psui3905/ncbi_genes_summary huggingface dataset:
DMAC2, Official Symbol DMAC2provided by HGNC Official Full Name distal membrane arm assembly component 2provided by HGNC Primary source HGNC:HGNC:25496 See related Ensembl:ENSG00000105341 MIM:617262; AllianceGenome:HGNC:25496 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ATP5SL Summary Involved in mitochondrial respiratory chain complex I assembly. Colocalizes with mitochondrial respiratory chain complex I. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 21.0), duodenum (RPKM 16.7) and 25 other tissues See more Orthologs mouse all
DMAC2L, Official Symbol DMAC2Lprovided by HGNC Official Full Name distal membrane arm assembly component 2 likeprovided by HGNC Primary source HGNC:HGNC:18799 See related Ensembl:ENSG00000125375 MIM:618579; AllianceGenome:HGNC:18799 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FB; ATPW; ATP5S; HSU79253 Summary This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. This gene encodes the subunit s, also known as factor B, of the proton channel. This subunit is necessary for the energy transduction activity of the ATP synthase complexes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 3.9), kidney (RPKM 3.3) and 25 other tissues See more Orthologs mouse all
DMAP1, Official Symbol DMAP1provided by HGNC Official Full Name DNA methyltransferase 1 associated protein 1provided by HGNC Primary source HGNC:HGNC:18291 See related Ensembl:ENSG00000178028 MIM:605077; AllianceGenome:HGNC:18291 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EAF2; SWC4; MEAF2; DNMAP1; DNMTAP1 Summary This gene encodes a subunit of several, distinct complexes involved in the repression or activation of transcription. The encoded protein can independently repress transcription and is targeted to replication foci throughout S phase by interacting directly with the N-terminus of DNA methyltransferase 1. During late S phase, histone deacetylase 2 is added to this complex, providing a means to deacetylate histones in transcriptionally inactive heterochromatin following replication. The encoded protein is also a component of the nucleosome acetyltransferase of H4 complex and interacts with the transcriptional corepressor tumor susceptibility gene 101 and the pro-apoptotic death-associated protein 6, among others. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in adrenal (RPKM 14.7), ovary (RPKM 11.2) and 25 other tissues See more Orthologs mouse all
DMBT1, Official Symbol DMBT1provided by HGNC Official Full Name deleted in malignant brain tumors 1provided by HGNC Primary source HGNC:HGNC:2926 See related Ensembl:ENSG00000187908 MIM:601969; AllianceGenome:HGNC:2926 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SAG; GP340; SALSA; muclin Summary Loss of sequences from human chromosome 10q has been associated with the progression of human cancers. This gene was originally isolated based on its deletion in a medulloblastoma cell line. This gene is expressed with transcripts of 6.0, 7.5, and 8.0 kb in fetal lung and with one transcript of 8.0 kb in adult lung, although the 7.5 kb transcript has not been characterized. The encoded protein precursor is a glycoprotein containing multiple scavenger receptor cysteine-rich (SRCR) domains separated by SRCR-interspersed domains (SID). Transcript variant 2 (8.0 kb) has been shown to bind surfactant protein D independently of carbohydrate recognition. This indicates that DMBT1 may not be a classical tumor suppressor gene, but rather play a role in the interaction of tumor cells and the immune system. [provided by RefSeq, Mar 2016] Expression Biased expression in duodenum (RPKM 482.0), small intestine (RPKM 157.2) and 1 other tissue See more Orthologs mouse all
DMBT1L1, Official Symbol DMBT1L1provided by HGNC Official Full Name deleted in malignant brain tumors 1 like 1 (pseudogene)provided by HGNC Primary source HGNC:HGNC:49497 See related Ensembl:ENSG00000176584 AllianceGenome:HGNC:49497 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DMBT1P1 Expression Low expression observed in reference dataset See more Orthologs all
DMBX1, Official Symbol DMBX1provided by HGNC Official Full Name diencephalon/mesencephalon homeobox 1provided by HGNC Primary source HGNC:HGNC:19026 See related Ensembl:ENSG00000197587 MIM:607410; AllianceGenome:HGNC:19026 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Atx; MBX; OTX3; PAXB Summary This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
DMC1, Official Symbol DMC1provided by HGNC Official Full Name DNA meiotic recombinase 1provided by HGNC Primary source HGNC:HGNC:2927 See related Ensembl:ENSG00000100206 MIM:602721; AllianceGenome:HGNC:2927 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DMC1H; LIM15; dJ199H16.1 Summary This gene encodes a member of the superfamily of recombinases (also called DNA strand-exchange proteins). Recombinases are important for repairing double-strand DNA breaks during mitosis and meiosis. This protein, which is evolutionarily conserved, is reported to be essential for meiotic homologous recombination and may thus play an important role in generating diversity of genetic information. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] Expression Biased expression in testis (RPKM 4.8), lymph node (RPKM 0.7) and 8 other tissues See more Orthologs mouse all
DMD, Official Symbol DMDprovided by HGNC Official Full Name dystrophinprovided by HGNC Primary source HGNC:HGNC:2928 See related Ensembl:ENSG00000198947 MIM:300377; AllianceGenome:HGNC:2928 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BMD; CMD3B; MRX85; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272 Summary This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016] Expression Ubiquitous expression in heart (RPKM 7.1), fat (RPKM 4.3) and 23 other tissues See more Orthologs mouse all
DMGDH, Official Symbol DMGDHprovided by HGNC Official Full Name dimethylglycine dehydrogenaseprovided by HGNC Primary source HGNC:HGNC:24475 See related Ensembl:ENSG00000132837 MIM:605849; AllianceGenome:HGNC:24475 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DMGDHD; ME2GLYDH Summary This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. Mutation in this gene causes dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form of creatine kinase in serum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Biased expression in kidney (RPKM 31.5), liver (RPKM 24.3) and 1 other tissue See more Orthologs mouse all
DMKN, Official Symbol DMKNprovided by HGNC Official Full Name dermokineprovided by HGNC Primary source HGNC:HGNC:25063 See related Ensembl:ENSG00000161249 MIM:617211; AllianceGenome:HGNC:25063 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as UNQ729; ZD52F10 Summary This gene is upregulated in inflammatory diseases, and it was first observed as expressed in the differentiated layers of skin. The most interesting aspect of this gene is the differential use of promoters and terminators to generate isoforms with unique cellular distributions and domain components. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2010] Expression Biased expression in skin (RPKM 387.3) and esophagus (RPKM 47.0) See more Orthologs mouse all
DMP1, Official Symbol DMP1provided by HGNC Official Full Name dentin matrix acidic phosphoprotein 1provided by HGNC Primary source HGNC:HGNC:2932 See related Ensembl:ENSG00000152592 MIM:600980; AllianceGenome:HGNC:2932 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ARHP; ARHR; DMP-1 Summary Dentin matrix acidic phosphoprotein is an extracellular matrix protein and a member of the small integrin binding ligand N-linked glycoprotein family. This protein, which is critical for proper mineralization of bone and dentin, is present in diverse cells of bone and tooth tissues. The protein contains a large number of acidic domains, multiple phosphorylation sites, a functional arg-gly-asp cell attachment sequence, and a DNA binding domain. In undifferentiated osteoblasts it is primarily a nuclear protein that regulates the expression of osteoblast-specific genes. During osteoblast maturation the protein becomes phosphorylated and is exported to the extracellular matrix, where it orchestrates mineralized matrix formation. Mutations in the gene are known to cause autosomal recessive hypophosphatemia, a disease that manifests as rickets and osteomalacia. The gene structure is conserved in mammals. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
DMPK, Official Symbol DMPKprovided by HGNC Official Full Name DM1 protein kinaseprovided by HGNC Primary source HGNC:HGNC:2933 See related Ensembl:ENSG00000104936 MIM:605377; AllianceGenome:HGNC:2933 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DM; DM1; DMK; MDPK; DM1PK; MT-PK Summary The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include myogenin, the beta-subunit of the L-type calcium channels, and phospholemman. The 3' untranslated region of this gene contains 5-38 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to 50-5,000 copies causes myotonic dystrophy type I, which increases in severity with increasing repeat element copy number. Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of genes in this region. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in heart (RPKM 38.6), prostate (RPKM 25.3) and 23 other tissues See more Orthologs mouse all
DMRT1, Official Symbol DMRT1provided by HGNC Official Full Name doublesex and mab-3 related transcription factor 1provided by HGNC Primary source HGNC:HGNC:2934 See related Ensembl:ENSG00000137090 MIM:602424; AllianceGenome:HGNC:2934 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DMT1; CT154 Summary This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like DNA-binding motif (DM domain). The DM domain is an ancient, conserved component of the vertebrate sex-determining pathway that is also a key regulator of male development in flies and nematodes. This gene exhibits a gonad-specific and sexually dimorphic expression pattern. Defective testicular development and XY feminization occur when this gene is hemizygous. [provided by RefSeq, Jul 2008] Expression Restricted expression toward testis (RPKM 15.0) See more Orthologs mouse all
DMRT2, Official Symbol DMRT2provided by HGNC Official Full Name doublesex and mab-3 related transcription factor 2provided by HGNC Primary source HGNC:HGNC:2935 See related Ensembl:ENSG00000173253 MIM:604935; AllianceGenome:HGNC:2935 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DSXL-2 Summary The protein encoded by this gene belongs to the DMRT gene family, sharing a DM DNA-binding domain with Drosophila 'doublesex' (dsx) and C. elegans mab3, genes involved in sex determination in these organisms. Also, this gene is located in a region of the human genome (chromosome 9p24.3) associated with gonadal dysgenesis and XY sex reversal. Hence this gene is one of the candidates for sex-determining gene(s) on chr 9. [provided by RefSeq, Apr 2010] Expression Biased expression in kidney (RPKM 4.2), fat (RPKM 1.8) and 2 other tissues See more Orthologs mouse all
DMRT3, Official Symbol DMRT3provided by HGNC Official Full Name doublesex and mab-3 related transcription factor 3provided by HGNC Primary source HGNC:HGNC:13909 See related Ensembl:ENSG00000064218 MIM:614754; AllianceGenome:HGNC:13909 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DMRTA3 Summary Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in male sex differentiation and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including adult walking behavior; transmission of nerve impulse; and ventral spinal cord interneuron specification. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in thyroid (RPKM 4.6), testis (RPKM 2.6) and 2 other tissues See more Orthologs mouse all
DMRTA1, Official Symbol DMRTA1provided by HGNC Official Full Name DMRT like family A1provided by HGNC Primary source HGNC:HGNC:13826 See related Ensembl:ENSG00000176399 MIM:614803; AllianceGenome:HGNC:13826 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DMO; DMRT4 Summary Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in germ cell development; regulation of transcription by RNA polymerase II; and sex differentiation. Predicted to act upstream of or within male mating behavior and ovarian follicle development. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in liver (RPKM 4.0), kidney (RPKM 3.0) and 19 other tissues See more Orthologs mouse all
DMRTA2, Official Symbol DMRTA2provided by HGNC Official Full Name DMRT like family A2provided by HGNC Primary source HGNC:HGNC:13908 See related Ensembl:ENSG00000142700 MIM:614804; AllianceGenome:HGNC:13908 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II and sex differentiation. Predicted to act upstream of or within nervous system development and skeletal muscle cell differentiation. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
DMRTB1, Official Symbol DMRTB1provided by HGNC Official Full Name DMRT like family B with proline rich C-terminal 1provided by HGNC Primary source HGNC:HGNC:13913 See related Ensembl:ENSG00000143006 MIM:614805; AllianceGenome:HGNC:13913 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in germ cell development; regulation of transcription by RNA polymerase II; and sex differentiation. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 31.2) See more Orthologs mouse all
DMRTC1, Official Symbol DMRTC1provided by HGNC Official Full Name DMRT like family C1provided by HGNC Primary source HGNC:HGNC:13910 See related Ensembl:ENSG00000269502 MIM:300878; AllianceGenome:HGNC:13910 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to be involved in regulation of transcription, DNA-templated. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 5.5), ovary (RPKM 3.3) and 12 other tissues See more Orthologs all
DMRTC1B, Official Symbol DMRTC1Bprovided by HGNC Official Full Name DMRT like family C1Bprovided by HGNC Primary source HGNC:HGNC:31686 See related Ensembl:ENSG00000184911 AllianceGenome:HGNC:31686 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to be involved in regulation of transcription, DNA-templated. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 5.4), ovary (RPKM 3.3) and 12 other tissues See more Orthologs mouse all
DMRTC2, Official Symbol DMRTC2provided by HGNC Official Full Name DMRT like family C2provided by HGNC Primary source HGNC:HGNC:13911 See related Ensembl:ENSG00000142025 MIM:614806; AllianceGenome:HGNC:13911 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in germ cell development; regulation of transcription by RNA polymerase II; and sex differentiation. Predicted to act upstream of or within male gamete generation and positive regulation of histone H3-K9 methylation. Predicted to be located in XY body. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 14.6) See more Orthologs mouse all
DMTF1, Official Symbol DMTF1provided by HGNC Official Full Name cyclin D binding myb like transcription factor 1provided by HGNC Primary source HGNC:HGNC:14603 See related Ensembl:ENSG00000135164 MIM:608491; AllianceGenome:HGNC:14603 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DMP1; DMTF; MRUL; hDMP1 Summary This gene encodes a transcription factor that contains a cyclin D-binding domain, three central Myb-like repeats, and two flanking acidic transactivation domains at the N- and C-termini. The encoded protein is induced by the oncogenic Ras signaling pathway and functions as a tumor suppressor by activating the transcription of ARF and thus the ARF-p53 pathway to arrest cell growth or induce apoptosis. It also activates the transcription of aminopeptidase N and may play a role in hematopoietic cell differentiation. The transcriptional activity of this protein is regulated by binding of D-cyclins. This gene is hemizygously deleted in approximately 40% of human non-small-cell lung cancer and is a potential prognostic and gene-therapy target for non-small-cell lung cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] Expression Ubiquitous expression in testis (RPKM 18.8), lymph node (RPKM 11.3) and 25 other tissues See more Orthologs mouse all
DMTN, Official Symbol DMTNprovided by HGNC Official Full Name dematin actin binding proteinprovided by HGNC Primary source HGNC:HGNC:3382 See related Ensembl:ENSG00000158856 MIM:125305; AllianceGenome:HGNC:3382 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DMT; EPB49 Summary The protein encoded by this gene is an actin binding and bundling protein that plays a structural role in erythrocytes, by stabilizing and attaching the spectrin/actin cytoskeleton to the erythrocyte membrane in a phosphorylation-dependent manner. This protein contains a core domain in the N-terminus, and a headpiece domain in the C-terminus that binds F-actin. When purified from erythrocytes, this protein exists as a trimer composed of two 48 kDa polypeptides and a 52 kDa polypeptide. The different subunits arise from alternative splicing in the 3' coding region, where the headpiece domain is located. Disruption of this gene has been correlated with the autosomal dominant Marie Unna hereditary hypotrichosis disease, while loss of heterozygosity of this gene is thought to play a role in prostate cancer progression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014] Expression Broad expression in brain (RPKM 41.4), bone marrow (RPKM 23.9) and 18 other tissues See more Orthologs mouse all
DMWD, Official Symbol DMWDprovided by HGNC Official Full Name DM1 locus, WD repeat containingprovided by HGNC Primary source HGNC:HGNC:2936 See related Ensembl:ENSG00000185800 MIM:609857; AllianceGenome:HGNC:2936 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DMRN9; DMR-N9; gene59; D19S593E Summary Predicted to be located in dendrite; nucleus; and perikaryon. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 11.5), brain (RPKM 11.3) and 25 other tissues See more Orthologs mouse all
DMXL1, Official Symbol DMXL1provided by HGNC Official Full Name Dmx like 1provided by HGNC Primary source HGNC:HGNC:2937 See related Ensembl:ENSG00000172869 MIM:605671; AllianceGenome:HGNC:2937 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The protein encoded by this gene is a member of the WD repeat superfamily of proteins, which have regulatory functions. This gene is expressed in many tissue types including several types of eye tissue, and it has been associated with ocular phenotypes. In addition, it is upregulated in cultured cells that overexpress growth factor independence 1B, a transcription factor that is essential for hematopoietic cell development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Expression Ubiquitous expression in prostate (RPKM 16.8), thyroid (RPKM 7.3) and 25 other tissues See more Orthologs mouse all
DMXL2, Official Symbol DMXL2provided by HGNC Official Full Name Dmx like 2provided by HGNC Primary source HGNC:HGNC:2938 See related Ensembl:ENSG00000104093 MIM:612186; AllianceGenome:HGNC:2938 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RC3; DEE81; PEPNS; DFNA71; EIEE81 Summary This gene encodes a protein with 12 WD domains. Proteins with WD domains are involved in many functions including participation in signal transduction pathways. Participation of the encoded protein in regulation of the Notch signaling pathway has been demonstrated in vitro using several human cell lines (PMID:20810660). A gene encoding a similar protein is located on chromosome 5. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in brain (RPKM 8.0), bone marrow (RPKM 7.9) and 25 other tissues See more Orthologs mouse all
DNA2, Official Symbol DNA2provided by HGNC Official Full Name DNA replication helicase/nuclease 2provided by HGNC Primary source HGNC:HGNC:2939 See related Ensembl:ENSG00000138346 MIM:601810; AllianceGenome:HGNC:2939 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DNA2L; hDNA2 Summary This gene encodes a member of the DNA2/NAM7 helicase family. The encoded protein is a conserved helicase/nuclease involved in the maintenance of mitochondrial and nuclear DNA stability. Mutations in this gene are associated with autosomal dominant progressive external ophthalmoplegia-6 (PEOA6) and Seckel syndrome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014] Expression Broad expression in lymph node (RPKM 2.7), testis (RPKM 1.9) and 24 other tissues See more Orthologs mouse all
DNAAF1, Official Symbol DNAAF1provided by HGNC Official Full Name dynein axonemal assembly factor 1provided by HGNC Primary source HGNC:HGNC:30539 See related Ensembl:ENSG00000154099 MIM:613190; AllianceGenome:HGNC:30539 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as swt; DAU1; ODA7; CILD13; LRRC50 Summary The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Expression Broad expression in testis (RPKM 17.0), lung (RPKM 5.3) and 20 other tissues See more Orthologs mouse all
DNAAF2, Official Symbol DNAAF2provided by HGNC Official Full Name dynein axonemal assembly factor 2provided by HGNC Primary source HGNC:HGNC:20188 See related Ensembl:ENSG00000165506 MIM:612517; AllianceGenome:HGNC:20188 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KTU; PF13; CILD10; C14orf104 Summary This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for cilia formation. Mutations in this gene have been associated with primary ciliary dyskinesia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] Expression Ubiquitous expression in testis (RPKM 4.1), kidney (RPKM 3.9) and 25 other tissues See more Orthologs mouse all
DNAAF3, Official Symbol DNAAF3provided by HGNC Official Full Name dynein axonemal assembly factor 3provided by HGNC Primary source HGNC:HGNC:30492 See related Ensembl:ENSG00000167646 MIM:614566; AllianceGenome:HGNC:30492 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PCD; DAB1; PF22; CILD2; C19orf51 Summary The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] Expression Biased expression in testis (RPKM 22.9), heart (RPKM 3.1) and 1 other tissue See more Orthologs mouse all
DNAAF4, Official Symbol DNAAF4provided by HGNC Official Full Name dynein axonemal assembly factor 4provided by HGNC Primary source HGNC:HGNC:21493 See related Ensembl:ENSG00000256061 MIM:608706; AllianceGenome:HGNC:21493 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RD; DYX1; EKN1; DYXC1; CILD25; DYX1C1 Summary This gene encodes a tetratricopeptide repeat domain-containing protein. The encoded protein interacts with estrogen receptors and the heat shock proteins, Hsp70 and Hsp90. An homologous protein in rat has been shown to function in neuronal migration in the developing neocortex. A chromosomal translocation involving this gene is associated with a susceptibility to developmental dyslexia. Mutations in this gene are associated with deficits in reading and spelling. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream cell cycle progression 1 (CCPG1) gene. [provided by RefSeq, Mar 2011] Expression Broad expression in testis (RPKM 4.6), thyroid (RPKM 3.5) and 15 other tissues See more Orthologs mouse all
DNAAF4-CCPG1, Official Symbol DNAAF4-CCPG1provided by HGNC Official Full Name DNAAF4-CCPG1 readthrough (NMD candidate)provided by HGNC Primary source HGNC:HGNC:43019 See related Ensembl:ENSG00000261771 AllianceGenome:HGNC:43019 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DYX1C1-CCPG1 Summary This locus represents naturally occurring read-through transcription between the neighboring dyslexia susceptibility 1 candidate 1 (DYX1C1) and cell cycle progression 1 (CCPG1) genes on chromosome 15. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Mar 2011] Expression Ubiquitous expression in thyroid (RPKM 44.1), gall bladder (RPKM 27.8) and 25 other tissues See more
DNAAF5, Official Symbol DNAAF5provided by HGNC Official Full Name dynein axonemal assembly factor 5provided by HGNC Primary source HGNC:HGNC:26013 See related Ensembl:ENSG00000164818 MIM:614864; AllianceGenome:HGNC:26013 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CILD18; HEATR2 Summary The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013] Expression Ubiquitous expression in testis (RPKM 5.5), colon (RPKM 5.1) and 25 other tissues See more Orthologs mouse all
DNAAF6, Official Symbol DNAAF6provided by HGNC Official Full Name dynein axonemal assembly factor 6provided by HGNC Primary source HGNC:HGNC:28570 See related Ensembl:ENSG00000080572 MIM:300933; AllianceGenome:HGNC:28570 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CILD36; PIH1D3; CXorf41; NYSAR97; TWISTER Summary Enables dynein intermediate chain binding activity. Involved in flagellated sperm motility; inner dynein arm assembly; and outer dynein arm assembly. Located in trans-Golgi network. Implicated in primary ciliary dyskinesia 36. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 2.7) See more Orthologs mouse all
DNAAF9, Official Symbol DNAAF9provided by HGNC Official Full Name dynein axonemal assembly factor 9provided by HGNC Primary source HGNC:HGNC:17721 See related Ensembl:ENSG00000088854 MIM:614146; AllianceGenome:HGNC:17721 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C20orf194 Summary This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear to be a disease candidate. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in brain (RPKM 9.9), testis (RPKM 8.0) and 25 other tissues See more Orthologs mouse all
DNAH1, Official Symbol DNAH1provided by HGNC Official Full Name dynein axonemal heavy chain 1provided by HGNC Primary source HGNC:HGNC:2940 See related Ensembl:ENSG00000114841 MIM:603332; AllianceGenome:HGNC:2940 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HL11; HDHC7; HL-11; CILD37; DNAHC1; HSRF-1; SPGF18; XLHSRF-1 Summary This gene encodes an inner dynein arm heavy chain that provides structural support between the radial spokes and the outer doublet of the sperm tail. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and multiple morphological anomalies of the flagella that result in asthenozoospermia and male infertility. Mice with a homozygous knockout of the orthologous gene are viable but have reduced sperm motility and are infertile. [provided by RefSeq, Feb 2017] Expression Broad expression in testis (RPKM 4.1), bone marrow (RPKM 2.9) and 25 other tissues See more Orthologs mouse all
DNAH10, Official Symbol DNAH10provided by HGNC Official Full Name dynein axonemal heavy chain 10provided by HGNC Primary source HGNC:HGNC:2941 See related Ensembl:ENSG00000197653 MIM:605884; AllianceGenome:HGNC:2941 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SPGF56 Summary Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH10 is an inner arm dynein heavy chain (Maiti et al., 2000 [PubMed 11175280]).[supplied by OMIM, Mar 2008] Expression Biased expression in testis (RPKM 3.1), bone marrow (RPKM 0.9) and 3 other tissues See more Orthologs mouse all
DNAH10OS, Official Symbol DNAH10OSprovided by HGNC Official Full Name dynein axonemal heavy chain 10 opposite strandprovided by HGNC Primary source HGNC:HGNC:37121 See related AllianceGenome:HGNC:37121 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
DNAH11, Official Symbol DNAH11provided by HGNC Official Full Name dynein axonemal heavy chain 11provided by HGNC Primary source HGNC:HGNC:2942 See related Ensembl:ENSG00000105877 MIM:603339; AllianceGenome:HGNC:2942 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CILD7; DNHBL; DPL11; DNAHBL; DNAHC11 Summary This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013] Expression Broad expression in thyroid (RPKM 1.1), lung (RPKM 1.1) and 25 other tissues See more Orthologs mouse all
DNAH12, Official Symbol DNAH12provided by HGNC Official Full Name dynein axonemal heavy chain 12provided by HGNC Primary source HGNC:HGNC:2943 See related Ensembl:ENSG00000174844 MIM:603340; AllianceGenome:HGNC:2943 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DHC3; DLP3; HL19; DLP12; DNHD2; HDHC3; HL-19; DNAH7L; DNAHC3; DNAH12L; DNAHC12 Summary Predicted to enable several functions, including ATP binding activity; dynein intermediate chain binding activity; and dynein light intermediate chain binding activity. Predicted to be involved in microtubule-based movement. Predicted to be located in cilium; cytoplasm; and microtubule. Predicted to be part of dynein complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 1.9), lung (RPKM 0.7) and 2 other tissues See more Orthologs mouse all
DNAH14, Official Symbol DNAH14provided by HGNC Official Full Name dynein axonemal heavy chain 14provided by HGNC Primary source HGNC:HGNC:2945 See related Ensembl:ENSG00000185842 MIM:603341; AllianceGenome:HGNC:2945 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HL18; HL-18; C1orf67; Dnahc14 Summary Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH14 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM, Mar 2008] Expression Biased expression in testis (RPKM 2.0), thyroid (RPKM 0.3) and 6 other tissues See more Orthologs mouse all
DNAH17, Official Symbol DNAH17provided by HGNC Official Full Name dynein axonemal heavy chain 17provided by HGNC Primary source HGNC:HGNC:2946 See related Ensembl:ENSG00000187775 MIM:610063; AllianceGenome:HGNC:2946 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DNEL2; DNAHL1; SPGF39 Summary Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008] Expression Biased expression in testis (RPKM 7.4), brain (RPKM 1.0) and 4 other tissues See more Orthologs mouse all
DNAH2, Official Symbol DNAH2provided by HGNC Official Full Name dynein axonemal heavy chain 2provided by HGNC Primary source HGNC:HGNC:2948 See related Ensembl:ENSG00000183914 MIM:603333; AllianceGenome:HGNC:2948 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DNHD3; DNAHC2; SPGF45 Summary Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH2 is an axonemal inner arm dynein heavy chain (Chapelin et al., 1997 [PubMed 9256245]).[supplied by OMIM, Mar 2008] Expression Biased expression in testis (RPKM 2.3), lung (RPKM 0.5) and 2 other tissues See more Orthologs mouse all
DNAH3, Official Symbol DNAH3provided by HGNC Official Full Name dynein axonemal heavy chain 3provided by HGNC Primary source HGNC:HGNC:2949 See related Ensembl:ENSG00000158486 MIM:603334; AllianceGenome:HGNC:2949 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HDHC8; HEL-36; DNAHC3B; HSADHC3; DNAHC3-B Summary This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016] Expression Biased expression in testis (RPKM 2.3), lung (RPKM 0.6) and 4 other tissues See more Orthologs mouse all
DNAH5, Official Symbol DNAH5provided by HGNC Official Full Name dynein axonemal heavy chain 5provided by HGNC Primary source HGNC:HGNC:2950 See related Ensembl:ENSG00000039139 MIM:603335; AllianceGenome:HGNC:2950 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HL1; PCD; CILD3; KTGNR; DNAHC5 Summary This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009] Expression Biased expression in lung (RPKM 1.0), thyroid (RPKM 0.6) and 10 other tissues See more Orthologs mouse all
DNAH6, Official Symbol DNAH6provided by HGNC Official Full Name dynein axonemal heavy chain 6provided by HGNC Primary source HGNC:HGNC:2951 See related Ensembl:ENSG00000115423 MIM:603336; AllianceGenome:HGNC:2951 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HL2; HL-2; DNHL1; Dnahc6 Summary This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016] Expression Biased expression in testis (RPKM 1.8), thyroid (RPKM 0.7) and 11 other tissues See more Orthologs mouse all