psui3905/ncbi_genes_summary huggingface dataset:
DNAJC25-GNG10, Official Symbol DNAJC25-GNG10provided by HGNC Official Full Name DNAJC25-GNG10 readthroughprovided by HGNC Primary source HGNC:HGNC:37501 See related Ensembl:ENSG00000244115 AllianceGenome:HGNC:37501 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 This gene represents naturally-occurring mRNAs that are co-transcribed products of the neighboring DNAJC25 and GNG10 genes. These transcripts include the first exon of DNAJC25 and the last two exons of GNG10, resulting in a protein that combines the N-terminus of DNAJC25 and the C-terminus of GNG10. [provided by RefSeq, Dec 2008] Expression Ubiquitous expression in appendix (RPKM 46.3), adrenal (RPKM 41.5) and 25 other tissues See more Orthologs all
DNAJC27, Official Symbol DNAJC27provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member C27provided by HGNC Primary source HGNC:HGNC:30290 See related Ensembl:ENSG00000115137 MIM:613527; AllianceGenome:HGNC:30290 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 RBJ; RabJS Summary Predicted to enable GTPase activity. Predicted to be involved in intracellular protein transport and positive regulation of MAPK cascade. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 15.3), brain (RPKM 3.5) and 22 other tissues See more Orthologs mouse all
DNAJC27-AS1, Official Symbol DNAJC27-AS1provided by HGNC Official Full Name DNAJC27 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:42943 See related Ensembl:ENSG00000224165 AllianceGenome:HGNC:42943 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
DNAJC28, Official Symbol DNAJC28provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member C28provided by HGNC Primary source HGNC:HGNC:1297 See related Ensembl:ENSG00000177692 AllianceGenome:HGNC:1297 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 C21orf55; C21orf78 Summary This gene encodes a member of the DnaJ heat shock protein family. The encoded protein, which contains a conserved N-terminal DnaJ domain, is thought to play a role in protein folding or act as a molecular chaperone protein. [provided by RefSeq, Oct 2016] Expression Broad expression in testis (RPKM 4.6), thyroid (RPKM 2.4) and 23 other tissues See more Orthologs mouse all
DNAJC3, Official Symbol DNAJC3provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member C3provided by HGNC Primary source HGNC:HGNC:9439 See related Ensembl:ENSG00000102580 MIM:601184; AllianceGenome:HGNC:9439 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 P58; HP58; ACPHD; ERdj6; PRKRI; P58IPK; p58(IPK) Summary This gene encodes a protein with multiple tetratricopeptide repeat (TPR) motifs as well as the highly conserved J domain found in DNAJ chaperone family members. It is a member of the tetratricopeptide repeat family of proteins and acts as an inhibitor of the interferon-induced, dsRNA-activated protein kinase (PKR). [provided by RefSeq, Jul 2010] Expression Ubiquitous expression in thyroid (RPKM 25.8), prostate (RPKM 15.3) and 25 other tissues See more Orthologs mouse all
DNAJC3-DT, Official Symbol DNAJC3-DTprovided by HGNC Official Full Name DNAJC3 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:39808 See related Ensembl:ENSG00000247400 AllianceGenome:HGNC:39808 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 DNAJC3-AS1 Expression Broad expression in thyroid (RPKM 4.8), testis (RPKM 2.7) and 24 other tissues See more
DNAJC30, Official Symbol DNAJC30provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member C30provided by HGNC Primary source HGNC:HGNC:16410 See related Ensembl:ENSG00000176410 MIM:618202; AllianceGenome:HGNC:16410 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 LHONAR; MC1DN38; WBSCR18 Summary This intronless gene encodes a member of the DNAJ molecular chaperone homology domain-containing protein family. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq, Jul 2008] Orthologs mouse all
DNAJC4, Official Symbol DNAJC4provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member C4provided by HGNC Primary source HGNC:HGNC:5271 See related Ensembl:ENSG00000110011 MIM:604189; AllianceGenome:HGNC:5271 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 HSPF2; MCG18; DANJC4 Summary Predicted to be involved in response to unfolded protein. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 43.6), spleen (RPKM 17.2) and 25 other tissues See more Orthologs mouse all
DNAJC5, Official Symbol DNAJC5provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member C5provided by HGNC Primary source HGNC:HGNC:16235 See related Ensembl:ENSG00000101152 MIM:611203; AllianceGenome:HGNC:16235 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 CSP; NCL; CLN4; CLN4B; DNAJC5A; mir-941-2; mir-941-3; mir-941-4; mir-941-5 Summary This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. The encoded protein plays a role in membrane trafficking and protein folding, and has been shown to have anti-neurodegenerative properties. The encoded protein is known to play a role in cystic fibrosis and Huntington's disease. A pseudogene of this gene is located on the short arm of chromosome 8. [provided by RefSeq, Nov 2010] Expression Ubiquitous expression in brain (RPKM 26.3), esophagus (RPKM 19.9) and 25 other tissues See more Orthologs mouse all
DNAJC5B, Official Symbol DNAJC5Bprovided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member C5 betaprovided by HGNC Primary source HGNC:HGNC:24138 See related Ensembl:ENSG00000147570 MIM:613945; AllianceGenome:HGNC:24138 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 CSP-beta Summary This gene encodes a member of the DNAJ heat shock protein 40 family of co-chaperone proteins that is characterized by an N-terminal DNAJ domain, a linker region, and a cysteine-rich C-terminal domain. The encoded protein, together with heat shock protein 70, is thought to regulate the proper folding of other proteins. The orthologous mouse protein is membrane-associated and is targeted to the trans-golgi network. [provided by RefSeq, Mar 2017] Expression Biased expression in testis (RPKM 18.0), lymph node (RPKM 1.5) and 1 other tissue See more Orthologs mouse all
DNAJC5G, Official Symbol DNAJC5Gprovided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member C5 gammaprovided by HGNC Primary source HGNC:HGNC:24844 See related Ensembl:ENSG00000163793 MIM:613946; AllianceGenome:HGNC:24844 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 CSP-gamma Summary Predicted to be located in membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 12.4) See more Orthologs mouse all
DNAJC6, Official Symbol DNAJC6provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member C6provided by HGNC Primary source HGNC:HGNC:15469 See related Ensembl:ENSG00000116675 MIM:608375; AllianceGenome:HGNC:15469 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 DJC6; PARK19 Summary DNAJC6 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus, a glycine/phenylalanine (G/F)-rich region, and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008] Expression Biased expression in brain (RPKM 55.4), adrenal (RPKM 6.4) and 3 other tissues See more Orthologs mouse all
DNAJC7, Official Symbol DNAJC7provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member C7provided by HGNC Primary source HGNC:HGNC:12392 See related Ensembl:ENSG00000168259 MIM:601964; AllianceGenome:HGNC:12392 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 DJ11; DJC7; TPR2; TTC2 Summary This gene encodes a member of the DNAJ heat shock protein 40 family of proteins that is characterized by two N-terminal tetratricopeptide repeat domains and a C-terminal DNAJ domain. This protein binds the chaperone proteins heat shock proteins 70 and 90 in an ATP-dependent manner and may function as a co-chaperone. Pseudogenes of this gene are found on chromosomes 1 and 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009] Expression Ubiquitous expression in brain (RPKM 25.3), lymph node (RPKM 14.6) and 25 other tissues See more Orthologs mouse all
DNAJC8, Official Symbol DNAJC8provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member C8provided by HGNC Primary source HGNC:HGNC:15470 See related Ensembl:ENSG00000126698 AllianceGenome:HGNC:15470 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 SPF31; HSPC331 Summary Enables Hsp70 protein binding activity. Located in cytosol; intercellular bridge; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 41.4), endometrium (RPKM 36.7) and 25 other tissues See more Orthologs mouse all
DNAJC8P1, Official Symbol DNAJC8P1provided by HGNC Official Full Name DNAJC8 pseudogene 1provided by HGNC Primary source HGNC:HGNC:19928 See related AllianceGenome:HGNC:19928 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DNAJC9, Official Symbol DNAJC9provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member C9provided by HGNC Primary source HGNC:HGNC:19123 See related Ensembl:ENSG00000213551 MIM:611206; AllianceGenome:HGNC:19123 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 JDD1; SB73; HDJC9 Summary Enables chaperone binding activity; heat shock protein binding activity; and histone binding activity. Involved in nucleosome assembly and positive regulation of ATPase activity. Located in several cellular components, including cytosol; extracellular space; and nucleoplasm. Part of chaperone complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 34.5), lymph node (RPKM 15.2) and 24 other tissues See more Orthologs mouse all
DNAL1, Official Symbol DNAL1provided by HGNC Official Full Name dynein axonemal light chain 1provided by HGNC Primary source HGNC:HGNC:23247 See related Ensembl:ENSG00000119661 MIM:610062; AllianceGenome:HGNC:23247 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 LC1; CILD16; C14orf168 Summary This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011] Expression Broad expression in thyroid (RPKM 3.1), brain (RPKM 3.1) and 25 other tissues See more Orthologs mouse all
DNAL4, Official Symbol DNAL4provided by HGNC Official Full Name dynein axonemal light chain 4provided by HGNC Primary source HGNC:HGNC:2955 See related Ensembl:ENSG00000100246 MIM:610565; AllianceGenome:HGNC:2955 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 MRMV3; PIG27 Summary This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. [provided by RefSeq, Dec 2014] Expression Broad expression in testis (RPKM 25.2), thyroid (RPKM 13.3) and 25 other tissues See more Orthologs mouse all
DNALI1, Official Symbol DNALI1provided by HGNC Official Full Name dynein axonemal light intermediate chain 1provided by HGNC Primary source HGNC:HGNC:14353 See related Ensembl:ENSG00000163879 MIM:602135; AllianceGenome:HGNC:14353 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 P28; hp28; SPGF83; dJ423B22.5 Summary This gene is the human homolog of the Chlamydomonas inner dynein arm gene, p28. The precise function of this gene is not known, however, it is a potential candidate for immotile cilia syndrome (ICS). Ultrastructural defects of the inner dynein arms are seen in patients with ICS. Immotile mutant strains of Chlamydomonas, a biflagellated algae, exhibit similar defects. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 23.5), ovary (RPKM 8.6) and 16 other tissues See more Orthologs mouse all
DNASE1, Official Symbol DNASE1provided by HGNC Official Full Name deoxyribonuclease 1provided by HGNC Primary source HGNC:HGNC:2956 See related Ensembl:ENSG00000213918 MIM:125505; AllianceGenome:HGNC:2956 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 DNL1; DRNI Summary This gene encodes a member of the DNase family. This protein is stored in the zymogen granules of the nuclear envelope and functions by cleaving DNA in an endonucleolytic manner. At least six autosomal codominant alleles have been characterized, DNASE1*1 through DNASE1*6, and the sequence of DNASE1*2 represented in this record. Mutations in this gene have been associated with systemic lupus erythematosus (SLE), an autoimmune disease. A recombinant form of this protein is used to treat the one of the symptoms of cystic fibrosis by hydrolyzing the extracellular DNA in sputum and reducing its viscosity. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in small intestine (RPKM 12.9), duodenum (RPKM 11.9) and 25 other tissues See more Orthologs mouse all
DNASE1L1, Official Symbol DNASE1L1provided by HGNC Official Full Name deoxyribonuclease 1 like 1provided by HGNC Primary source HGNC:HGNC:2957 See related Ensembl:ENSG00000013563 MIM:300081; AllianceGenome:HGNC:2957 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 XIB; G4.8; DNL1L; DNASEX; DNAS1L1 Summary This gene encodes a deoxyribonuclease protein that shows high sequence similarity to DNase I. The encoded protein is localized to the endoplasmic reticulum and modified by N-linked glycosylation. Alternate transcriptional splice variants encoding the same protein have been observed. [provided by RefSeq, Jan 2015] Expression Ubiquitous expression in spleen (RPKM 6.9), heart (RPKM 6.8) and 25 other tissues See more Orthologs mouse all
DNASE1L2, Official Symbol DNASE1L2provided by HGNC Official Full Name deoxyribonuclease 1 like 2provided by HGNC Primary source HGNC:HGNC:2958 See related Ensembl:ENSG00000167968 MIM:602622; AllianceGenome:HGNC:2958 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 DNAS1L2 Summary Predicted to enable DNA binding activity and deoxyribonuclease I activity. Predicted to be involved in DNA catabolic process, endonucleolytic. Predicted to act upstream of or within corneocyte development and hair follicle development. Predicted to be located in cytoplasm and extracellular region. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in skin (RPKM 3.2), brain (RPKM 0.6) and 14 other tissues See more Orthologs mouse all
DNASE1L3, Official Symbol DNASE1L3provided by HGNC Official Full Name deoxyribonuclease 1 like 3provided by HGNC Primary source HGNC:HGNC:2959 See related Ensembl:ENSG00000163687 MIM:602244; AllianceGenome:HGNC:2959 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 LSD; DHP2; SLEB16; DNAS1L3 Summary This gene encodes a member of the deoxyribonuclease I family. The encoded protein hydrolyzes DNA, is not inhibited by actin, and mediates the breakdown of DNA during apoptosis. Mutations in this gene are a cause of systemic lupus erythematosus-16. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] Expression Biased expression in spleen (RPKM 118.4), liver (RPKM 61.9) and 11 other tissues See more Orthologs mouse all
DNASE2, Official Symbol DNASE2provided by HGNC Official Full Name deoxyribonuclease 2, lysosomalprovided by HGNC Primary source HGNC:HGNC:2960 See related Ensembl:ENSG00000105612 MIM:126350; AllianceGenome:HGNC:2960 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 DNL; DNL2; AIPCS; DNASE2A Summary This gene encodes a member of the DNase family. The protein, located in the lysosome, hydrolyzes DNA under acidic conditions and mediates the breakdown of DNA during erythropoiesis and apoptosis. Two codominant alleles have been characterized, DNASE2*L (low activity) and DNASE2*H (high activity), that differ at one nucleotide in the promoter region. The DNASE2*H allele is represented in this record. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 23.0), lymph node (RPKM 17.9) and 25 other tissues See more Orthologs mouse all
DNASE2B, Official Symbol DNASE2Bprovided by HGNC Official Full Name deoxyribonuclease 2 betaprovided by HGNC Primary source HGNC:HGNC:28875 See related Ensembl:ENSG00000137976 MIM:608057; AllianceGenome:HGNC:28875 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 DLAD Summary The protein encoded by this gene shares considerable sequence similarity to, and is structurally related to DNase II. The latter is a well characterized endonuclease that catalyzes DNA hydrolysis in the absence of divalent cations at acidic pH. Unlike DNase II which is ubiquitously expressed, expression of this gene product is restricted to the salivary gland and lungs. The gene has been localized to chromosome 1p22.3 adjacent (and in opposite orientation) to the uricase pseudogene. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in salivary gland (RPKM 18.6) and prostate (RPKM 1.5) See more Orthologs mouse all
DND1, Official Symbol DND1provided by HGNC Official Full Name DND microRNA-mediated repression inhibitor 1provided by HGNC Primary source HGNC:HGNC:23799 See related Ensembl:ENSG00000256453 MIM:609385; AllianceGenome:HGNC:23799 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 RBMS4 Summary This gene encodes a protein that binds to microRNA-targeting sequences of mRNAs, inhibiting microRNA-mediated repression. Reduced expression of this gene has been implicated in tongue squamous cell carcinoma. Two pseudogenes of this gene are located on the long arm of chromosome 17. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in testis (RPKM 7.3), colon (RPKM 6.1) and 25 other tissues See more Orthologs mouse all
DND1P1, Official Symbol DND1P1provided by HGNC Official Full Name DND microRNA-mediated repression inhibitor 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:31444 See related AllianceGenome:HGNC:31444 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DNER, Official Symbol DNERprovided by HGNC Official Full Name delta/notch like EGF repeat containingprovided by HGNC Primary source HGNC:HGNC:24456 See related Ensembl:ENSG00000187957 MIM:607299; AllianceGenome:HGNC:24456 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 bet; UNQ26 Summary Predicted to enable Notch binding activity. Involved in central nervous system development. Located in dendrite; early endosome; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 69.6), adrenal (RPKM 34.4) and 2 other tissues See more Orthologs mouse all
DNHD1, Official Symbol DNHD1provided by HGNC Official Full Name dynein heavy chain domain 1provided by HGNC Primary source HGNC:HGNC:26532 See related Ensembl:ENSG00000179532 MIM:617277; AllianceGenome:HGNC:26532 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 DHCD1; CCDC35; DNHD1L; SPGF65; C11orf47 Summary Predicted to enable dynein intermediate chain binding activity; dynein light intermediate chain binding activity; and minus-end-directed microtubule motor activity. Predicted to be involved in cilium movement. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 7.9), spleen (RPKM 1.7) and 18 other tissues See more Orthologs mouse all
DNLZ, Official Symbol DNLZprovided by HGNC Official Full Name DNL-type zinc fingerprovided by HGNC Primary source HGNC:HGNC:33879 See related Ensembl:ENSG00000213221 AllianceGenome:HGNC:33879 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 HEP; HEP1; ZIM17; TIMM15; C9orf151; bA413M3.2 Summary Predicted to enable chaperone binding activity. Predicted to be involved in protein folding; protein import into mitochondrial matrix; and protein stabilization. Located in mitochondrion and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 6.4), spleen (RPKM 4.8) and 25 other tissues See more Orthologs mouse all
DNM1, Official Symbol DNM1provided by HGNC Official Full Name dynamin 1provided by HGNC Primary source HGNC:HGNC:2972 See related Ensembl:ENSG00000106976 MIM:602377; AllianceGenome:HGNC:2972 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 DNM; DEE31; DEE31A; DEE31B; EIEE31 Summary This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin-mediated endocytosis and other vesicular trafficking processes. Actin and other cytoskeletal proteins act as binding partners for the encoded protein, which can also self-assemble leading to stimulation of GTPase activity. More than sixty highly conserved copies of the 3' region of this gene are found elsewhere in the genome, particularly on chromosomes Y and 15. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 103.8) and gall bladder (RPKM 8.7) See more Orthologs mouse all
DNM1L, Official Symbol DNM1Lprovided by HGNC Official Full Name dynamin 1 likeprovided by HGNC Primary source HGNC:HGNC:2973 See related Ensembl:ENSG00000087470 MIM:603850; AllianceGenome:HGNC:2973 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 DLP1; DRP1; DVLP; EMPF; OPA5; EMPF1; DYMPLE; HDYNIV Summary This gene encodes a member of the dynamin superfamily of GTPases. The encoded protein mediates mitochondrial and peroxisomal division, and is involved in developmentally regulated apoptosis and programmed necrosis. Dysfunction of this gene is implicated in several neurological disorders, including Alzheimer's disease. Mutations in this gene are associated with the autosomal dominant disorder, encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013] Expression Ubiquitous expression in brain (RPKM 31.0), testis (RPKM 22.9) and 25 other tissues See more Orthologs mouse all
DNM1P17, Official Symbol DNM1P17provided by HGNC Official Full Name dynamin 1 pseudogene 17provided by HGNC Primary source HGNC:HGNC:21134 See related AllianceGenome:HGNC:21134 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DNM1DN17; DNM1DN17@
DNM1P24, Official Symbol DNM1P24provided by HGNC Official Full Name dynamin 1 pseudogene 24provided by HGNC Primary source HGNC:HGNC:35171 See related AllianceGenome:HGNC:35171 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DNM1DN15@; DNM1DN15-1
DNM1P28, Official Symbol DNM1P28provided by HGNC Official Full Name dynamin 1 pseudogene 28provided by HGNC Primary source HGNC:HGNC:35175 See related AllianceGenome:HGNC:35175 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DNM1DN3@; DNM1DN3-1; DNM1DN3-3; DNM1DN3.1; DNM1DN3.3
DNM1P31, Official Symbol DNM1P31provided by HGNC Official Full Name dynamin 1 pseudogene 31provided by HGNC Primary source HGNC:HGNC:35178 See related AllianceGenome:HGNC:35178 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DNM1DN4@; DNM1DN4-2; DNM1DN4.2
DNM1P32, Official Symbol DNM1P32provided by HGNC Official Full Name dynamin 1 pseudogene 32provided by HGNC Primary source HGNC:HGNC:35179 See related AllianceGenome:HGNC:35179 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DNM1DN4@; DNM1DN4-5; DNM1DN4.5
DNM1P47, Official Symbol DNM1P47provided by HGNC Official Full Name dynamin 1 pseudogene 47provided by HGNC Primary source HGNC:HGNC:35200 See related AllianceGenome:HGNC:35200 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DNM1DN14@; DNM1DN14-3
DNM1P49, Official Symbol DNM1P49provided by HGNC Official Full Name dynamin 1 pseudogene 49provided by HGNC Primary source HGNC:HGNC:47040 See related Ensembl:ENSG00000261820 AllianceGenome:HGNC:47040 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DNM1DN8@
DNM2, Official Symbol DNM2provided by HGNC Official Full Name dynamin 2provided by HGNC Primary source HGNC:HGNC:2974 See related Ensembl:ENSG00000079805 MIM:602378; AllianceGenome:HGNC:2974 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 DYN2; CMT2M; DYNII; LCCS5; CMTDI1; CMTDIB; DI-CMTB Summary Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. Five alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined. [provided by RefSeq, Jun 2010] Expression Ubiquitous expression in colon (RPKM 49.5), stomach (RPKM 41.1) and 25 other tissues See more Orthologs mouse all
DNM3, Official Symbol DNM3provided by HGNC Official Full Name dynamin 3provided by HGNC Primary source HGNC:HGNC:29125 See related Ensembl:ENSG00000197959 MIM:611445; AllianceGenome:HGNC:29125 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 Dyna III Summary This gene encodes a member of a family of guanosine triphosphate (GTP)-binding proteins that associate with microtubules and are involved in vesicular transport. The encoded protein functions in the development of megakaryocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] Expression Biased expression in brain (RPKM 10.0), adrenal (RPKM 2.5) and 8 other tissues See more Orthologs mouse all
DNM3-IT1, Official Symbol DNM3-IT1provided by HGNC Official Full Name DNM3 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41494 See related Ensembl:ENSG00000233540 AllianceGenome:HGNC:41494 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
DNM3OS, Official Symbol DNM3OSprovided by HGNC Official Full Name DNM3 opposite strand/antisense RNAprovided by HGNC Primary source HGNC:HGNC:41228 See related AllianceGenome:HGNC:41228 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 DNM3-AS1; MIR199A2HG Summary Predicted to act upstream of or within bone mineralization and skeletal system development. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in ovary (RPKM 8.5), endometrium (RPKM 7.1) and 20 other tissues See more Orthologs mouse all
DNMBP, Official Symbol DNMBPprovided by HGNC Official Full Name dynamin binding proteinprovided by HGNC Primary source HGNC:HGNC:30373 See related Ensembl:ENSG00000107554 MIM:611282; AllianceGenome:HGNC:30373 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 TUBA; CTRCT48; ARHGEF36 Summary This gene encodes a protein belonging to the guanine nucleotide exchange factor family, and which regulates the configuration of cell junctions. It contains multiple binding sites for dynamin and thus links dynamin to actin regulatory proteins. Polymorphisms in this gene have been linked to Alzheimer's disease in some populations, though there are conflicting reports of such linkages in other populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in small intestine (RPKM 10.7), duodenum (RPKM 8.5) and 25 other tissues See more Orthologs mouse all
DNMBP-AS1, Official Symbol DNMBP-AS1provided by HGNC Official Full Name DNMBP antisense RNA 1provided by HGNC Primary source HGNC:HGNC:20431 See related Ensembl:ENSG00000227695 AllianceGenome:HGNC:20431 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 NCRNA00093 Expression Ubiquitous expression in skin (RPKM 3.0), endometrium (RPKM 2.9) and 25 other tissues See more
DNMT1, Official Symbol DNMT1provided by HGNC Official Full Name DNA methyltransferase 1provided by HGNC Primary source HGNC:HGNC:2976 See related Ensembl:ENSG00000130816 MIM:126375; AllianceGenome:HGNC:2976 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 AIM; DNMT; MCMT; CXXC9; HSN1E; ADCADN; m.HsaI Summary This gene encodes an enzyme that transfers methyl groups to cytosine nucleotides of genomic DNA. This protein is the major enzyme responsible for maintaining methylation patterns following DNA replication and shows a preference for hemi-methylated DNA. Methylation of DNA is an important component of mammalian epigenetic gene regulation. Aberrant methylation patterns are found in human tumors and associated with developmental abnormalities. Variation in this gene has been associated with cerebellar ataxia, deafness, and narcolepsy, and neuropathy, hereditary sensory, type IE. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Expression Broad expression in placenta (RPKM 28.0), lymph node (RPKM 23.6) and 24 other tissues See more Orthologs mouse all
DNMT3A, Official Symbol DNMT3Aprovided by HGNC Official Full Name DNA methyltransferase 3 alphaprovided by HGNC Primary source HGNC:HGNC:2978 See related Ensembl:ENSG00000119772 MIM:602769; AllianceGenome:HGNC:2978 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 TBRS; HESJAS; DNMT3A2; M.HsaIIIA Summary CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in placenta (RPKM 5.8), ovary (RPKM 3.9) and 25 other tissues See more Orthologs mouse all
DNMT3AP1, Official Symbol DNMT3AP1provided by HGNC Official Full Name DNA methyltransferase 3A pseudogene 1provided by HGNC Primary source HGNC:HGNC:23164 See related AllianceGenome:HGNC:23164 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DNMT3B, Official Symbol DNMT3Bprovided by HGNC Official Full Name DNA methyltransferase 3 betaprovided by HGNC Primary source HGNC:HGNC:2979 See related Ensembl:ENSG00000088305 MIM:602900; AllianceGenome:HGNC:2979 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 ICF; ICF1; FSHD4; M.HsaIIIB Summary CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011] Expression Broad expression in testis (RPKM 3.4), skin (RPKM 1.5) and 25 other tissues See more Orthologs mouse all
DNMT3L, Official Symbol DNMT3Lprovided by HGNC Official Full Name DNA methyltransferase 3 likeprovided by HGNC Primary source HGNC:HGNC:2980 See related Ensembl:ENSG00000142182 MIM:606588; AllianceGenome:HGNC:2980 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 CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a nuclear protein with similarity to DNA methyltransferases, but is not thought to function as a DNA methyltransferase as it does not contain the amino acid residues necessary for methyltransferase activity. However, it does stimulate de novo methylation by DNA cytosine methyltransferase 3 alpha and is thought to be required for the establishment of maternal genomic imprints. This protein also mediates transcriptional repression through interaction with histone deacetylase 1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012] Expression Biased expression in liver (RPKM 1.3), kidney (RPKM 1.0) and 3 other tissues See more Orthologs mouse all
DNMT3L-AS1, Official Symbol DNMT3L-AS1provided by HGNC Official Full Name DNMT3L antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40189 See related Ensembl:ENSG00000232010 AllianceGenome:HGNC:40189 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in kidney (RPKM 2.2), liver (RPKM 1.5) and 4 other tissues See more
DNPH1, Official Symbol DNPH1provided by HGNC Official Full Name 2'-deoxynucleoside 5'-phosphate N-hydrolase 1provided by HGNC Primary source HGNC:HGNC:21218 See related Ensembl:ENSG00000112667 MIM:618762; AllianceGenome:HGNC:21218 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 RCL; C6orf108; dJ330M21.3 Summary This gene was identified on the basis of its stimulation by c-Myc protein. The latter is a transcription factor that participates in the regulation of cell proliferation, differentiation, and apoptosis. The exact function of this gene is not known but studies in rat suggest a role in cellular proliferation and c-Myc-mediated transformation. Two alternative transcripts encoding different proteins have been described. [provided by RefSeq, Jul 2008] Expression Broad expression in kidney (RPKM 65.7), duodenum (RPKM 28.6) and 23 other tissues See more Orthologs mouse all
DNTT, Official Symbol DNTTprovided by HGNC Official Full Name DNA nucleotidylexotransferaseprovided by HGNC Primary source HGNC:HGNC:2983 See related Ensembl:ENSG00000107447 MIM:187410; AllianceGenome:HGNC:2983 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 TDT Summary This gene is a member of the DNA polymerase type-X family and encodes a template-independent DNA polymerase that catalyzes the addition of deoxynucleotides to the 3'-hydroxyl terminus of oligonucleotide primers. In vivo, the encoded protein is expressed in a restricted population of normal and malignant pre-B and pre-T lymphocytes during early differentiation, where it generates antigen receptor diversity by synthesizing non-germ line elements (N-regions) at the junctions of rearranged Ig heavy chain and T cell receptor gene segments. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008] Expression Restricted expression toward bone marrow (RPKM 10.1) See more Orthologs mouse all
DNTTIP1, Official Symbol DNTTIP1provided by HGNC Official Full Name deoxynucleotidyltransferase terminal interacting protein 1provided by HGNC Primary source HGNC:HGNC:16160 See related Ensembl:ENSG00000101457 MIM:611388; AllianceGenome:HGNC:16160 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 Tdif1; C20orf167; dJ447F3.4 Summary DNTTIP1 binds DNA and enhances the activity of terminal deoxynucleotidyltransferase (TDT, or DNTT; MIM 187410), a DNA polymerase that catalyzes the polymerization of DNA in the absence of a DNA template (Yamashita et al., 2001 [PubMed 11473582]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in testis (RPKM 14.1), bone marrow (RPKM 12.1) and 25 other tissues See more Orthologs mouse all
DNTTIP2, Official Symbol DNTTIP2provided by HGNC Official Full Name deoxynucleotidyltransferase terminal interacting protein 2provided by HGNC Primary source HGNC:HGNC:24013 See related Ensembl:ENSG00000067334 MIM:611199; AllianceGenome:HGNC:24013 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 ERBP; FCF2; TdIF2; HSU15552; LPTS-RP2 Summary This gene is thought to be involved in chromatin remodeling and gene transcription. The encoded nuclear protein binds to and enhances the transcriptional activity of the estrogen receptor alpha, and also interacts with terminal deoxynucleotidyltransferase. The expression profile of this gene is a potential biomarker for chronic obstructive pulmonary disease. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in bone marrow (RPKM 37.4), testis (RPKM 17.8) and 25 other tissues See more Orthologs mouse all