psui3905/ncbi_genes_summary huggingface dataset:
DIXDC1, Official Symbol DIXDC1provided by HGNC Official Full Name DIX domain containing 1provided by HGNC Primary source HGNC:HGNC:23695 See related Ensembl:ENSG00000150764 MIM:610493; AllianceGenome:HGNC:23695 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 CCD1 Summary The protein encoded by this gene is a positive regulator of the Wnt signaling pathway. The encoded protein is found associated with gamma tubulin at the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013] Expression Ubiquitous expression in brain (RPKM 11.3), endometrium (RPKM 10.0) and 23 other tissues See more Orthologs mouse all
DKC1, Official Symbol DKC1provided by HGNC Official Full Name dyskerin pseudouridine synthase 1provided by HGNC Primary source HGNC:HGNC:2890 See related Ensembl:ENSG00000130826 MIM:300126; AllianceGenome:HGNC:2890 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 DKC; CBF5; DKCX; NAP57; NOLA4; CHINE1; XAP101 Summary This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] Expression Ubiquitous expression in bone marrow (RPKM 13.6), lymph node (RPKM 11.6) and 25 other tissues See more Orthologs mouse all
DKFZP434A062, Gene symbol DKFZP434A062 Gene description uncharacterized LOC26102 See related Ensembl:ENSG00000262075 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DKK1, Official Symbol DKK1provided by HGNC Official Full Name dickkopf WNT signaling pathway inhibitor 1provided by HGNC Primary source HGNC:HGNC:2891 See related Ensembl:ENSG00000107984 MIM:605189; AllianceGenome:HGNC:2891 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 SK; DKK-1 Summary This gene encodes a member of the dickkopf family of proteins. Members of this family are secreted proteins characterized by two cysteine-rich domains that mediate protein-protein interactions. The encoded protein binds to the LRP6 co-receptor and inhibits beta-catenin-dependent Wnt signaling. This gene plays a role in embryonic development and may be important in bone formation in adults. Elevated expression of this gene has been observed in numerous human cancers and this protein may promote proliferation, invasion and growth in cancer cell lines. [provided by RefSeq, Sep 2017] Expression Biased expression in placenta (RPKM 39.1), urinary bladder (RPKM 8.2) and 3 other tissues See more Orthologs mouse all
DKK2, Official Symbol DKK2provided by HGNC Official Full Name dickkopf WNT signaling pathway inhibitor 2provided by HGNC Primary source HGNC:HGNC:2892 See related Ensembl:ENSG00000155011 MIM:605415; AllianceGenome:HGNC:2892 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 DKK-2 Summary This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. It can act as either an agonist or antagonist of Wnt/beta-catenin signaling, depending on the cellular context and the presence of the co-factor kremen 2. Activity of this protein is also modulated by binding to the Wnt co-receptor LDL-receptor related protein 6 (LRP6). [provided by RefSeq, Jul 2008] Expression Broad expression in lung (RPKM 4.8), ovary (RPKM 3.0) and 14 other tissues See more Orthologs mouse all
DKK3, Official Symbol DKK3provided by HGNC Official Full Name dickkopf WNT signaling pathway inhibitor 3provided by HGNC Primary source HGNC:HGNC:2893 See related Ensembl:ENSG00000050165 MIM:605416; AllianceGenome:HGNC:2893 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 RIG; CRRL; REIC Summary This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. The expression of this gene is decreased in a variety of cancer cell lines and it may function as a tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] Expression Biased expression in heart (RPKM 451.8), brain (RPKM 155.8) and 7 other tissues See more Orthologs mouse all
DKK4, Official Symbol DKK4provided by HGNC Official Full Name dickkopf WNT signaling pathway inhibitor 4provided by HGNC Primary source HGNC:HGNC:2894 See related Ensembl:ENSG00000104371 MIM:605417; AllianceGenome:HGNC:2894 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 DKK-4 Summary This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. Activity of this protein is modulated by binding to the Wnt co-receptor and the co-factor kremen 2. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
DKKL1, Official Symbol DKKL1provided by HGNC Official Full Name dickkopf like acrosomal protein 1provided by HGNC Primary source HGNC:HGNC:16528 See related Ensembl:ENSG00000104901 MIM:605418; AllianceGenome:HGNC:16528 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 SGY; CT34; SGY1; SGY-1 Summary The dickkopf protein family interacts with the Wnt signaling pathway and its members are characterized by two conserved cysteine-rich domains. This gene encodes a secreted protein that has low sequence similarity to the dickkopf-3 protein. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2010] Expression Restricted expression toward testis (RPKM 49.6) See more Orthologs mouse all
DLAT, Official Symbol DLATprovided by HGNC Official Full Name dihydrolipoamide S-acetyltransferaseprovided by HGNC Primary source HGNC:HGNC:2896 See related Ensembl:ENSG00000150768 MIM:608770; AllianceGenome:HGNC:2896 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 E2; PBC; DLTA; PDCE2; PDC-E2 Summary This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009] Expression Ubiquitous expression in heart (RPKM 30.4), fat (RPKM 17.2) and 24 other tissues See more Orthologs mouse all
DLC1, Official Symbol DLC1provided by HGNC Official Full Name DLC1 Rho GTPase activating proteinprovided by HGNC Primary source HGNC:HGNC:2897 See related Ensembl:ENSG00000164741 MIM:604258; AllianceGenome:HGNC:2897 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 HP; ARHGAP7; STARD12; p122-RhoGAP Summary This gene encodes a GTPase-activating protein (GAP) that is a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins. GAP family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. This gene functions as a tumor suppressor gene in a number of common cancers, including prostate, lung, colorectal, and breast cancers. Multiple transcript variants due to alternative promoters and alternative splicing have been found for this gene.[provided by RefSeq, Apr 2010] Annotation information Note: DLC1 (Gene ID: 10395) and DYNLL1 (Gene ID: 8655) share the DLC1 symbol/alias in common. DLC1 is sometimes used as an alternative name for dynein light chain LC8-type 1 (DYNLL1), which can be confused with the official symbol for DLC1 Rho GTPase activating protein (DLC1). [05 Jul 2018] Expression Broad expression in lung (RPKM 21.4), fat (RPKM 12.0) and 21 other tissues See more Orthologs mouse all
DLD, Official Symbol DLDprovided by HGNC Official Full Name dihydrolipoamide dehydrogenaseprovided by HGNC Primary source HGNC:HGNC:2898 See related Ensembl:ENSG00000091140 MIM:238331; AllianceGenome:HGNC:2898 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 E3; LAD; DLDD; DLDH; GCSL; PHE3; OGDC-E3 Summary This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] Expression Ubiquitous expression in heart (RPKM 53.0), fat (RPKM 39.4) and 25 other tissues See more Orthologs mouse all
DLEC1, Official Symbol DLEC1provided by HGNC Official Full Name DLEC1 cilia and flagella associated proteinprovided by HGNC Primary source HGNC:HGNC:2899 See related Ensembl:ENSG00000008226 MIM:604050; AllianceGenome:HGNC:2899 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 F56; DLC1; DLC-1; FAP81; CFAP81 Summary The cytogenetic location of this gene is 3p21.3, and it is located in a region that is commonly deleted in a variety of malignancies. Down-regulation of this gene has been observed in several human cancers including lung, esophageal, renal tumors, and head and neck squamous cell carcinoma. In some cases, reduced expression of this gene in tumor cells is a result of aberrant promoter methylation. Several alternatively spliced transcripts have been observed that contain disrupted coding regions and likely encode nonfunctional proteins.[provided by RefSeq, Mar 2016] Expression Biased expression in testis (RPKM 8.8), lung (RPKM 3.8) and 2 other tissues See more Orthologs mouse all
DLEC1P1, Official Symbol DLEC1P1provided by HGNC Official Full Name DLEC1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:44545 See related Ensembl:ENSG00000230123 AllianceGenome:HGNC:44545 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DLEU1, Official Symbol DLEU1provided by HGNC Official Full Name deleted in lymphocytic leukemia 1provided by HGNC Primary source HGNC:HGNC:13747 See related Ensembl:ENSG00000176124 MIM:605765; AllianceGenome:HGNC:13747 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 BCMS; DLB1; LEU1; LEU2; XTP6; BCMS1; DLEU2; LINC00021; NCRNA00021 Expression Ubiquitous expression in testis (RPKM 1.6), colon (RPKM 1.5) and 25 other tissues See more
DLEU2, Official Symbol DLEU2provided by HGNC Official Full Name deleted in lymphocytic leukemia 2provided by HGNC Primary source HGNC:HGNC:13748 See related Ensembl:ENSG00000231607 MIM:605766; AllianceGenome:HGNC:13748 Gene type ncRNA RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ALT1; DLB2; LEU2; RFP2; BCMSUN; RFP2OS; MIR15AHG; TRIM13OS; LINC00022; NCRNA00022 Summary This locus represents a microRNA host gene and also produces long alternatively spliced non-coding RNAs. This genome region was observed to be deleted or epigenetically suppressed in leukemia, and was implicated as a negative regulator of cell proliferation. However, an alternative transcript produced at this locus was also found to promote progression through the cell cycle via angiotensin I converting enzyme 2 and cyclin D1. [provided by RefSeq, Dec 2017] Expression Ubiquitous expression in bone marrow (RPKM 1.5), testis (RPKM 1.3) and 25 other tissues See more
DLEU2L, Official Symbol DLEU2Lprovided by HGNC Official Full Name deleted in lymphocytic leukemia 2 likeprovided by HGNC Primary source HGNC:HGNC:13225 See related AllianceGenome:HGNC:13225 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 BCMSUNL
DLEU7, Official Symbol DLEU7provided by HGNC Official Full Name deleted in lymphocytic leukemia 7provided by HGNC Primary source HGNC:HGNC:17567 See related Ensembl:ENSG00000186047 MIM:618634; AllianceGenome:HGNC:17567 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 Expression Low expression observed in reference dataset See more Orthologs mouse all
DLG1, Official Symbol DLG1provided by HGNC Official Full Name discs large MAGUK scaffold protein 1provided by HGNC Primary source HGNC:HGNC:2900 See related Ensembl:ENSG00000075711 MIM:601014; AllianceGenome:HGNC:2900 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 hdlg; DLGH1; SAP97; SAP-97 Summary This gene encodes a multi-domain scaffolding protein that is required for normal development. This protein may have a role in septate junction formation, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. A multitude of transcript variants deriving from alternative splicing and the use of multiple alternate promoter have been observed, including some splice variants that may be specific to brain and other tissues. An upstream uORF may regulate translation at some splice variants of this gene. [provided by RefSeq, Sep 2018] Expression Ubiquitous expression in thyroid (RPKM 13.8), brain (RPKM 11.7) and 25 other tissues See more Orthologs mouse all
DLG1-AS1, Official Symbol DLG1-AS1provided by HGNC Official Full Name DLG1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44154 See related Ensembl:ENSG00000227375 AllianceGenome:HGNC:44154 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 testis (RPKM 2.5), thyroid (RPKM 0.4) and 5 other tissues See more
DLG2, Official Symbol DLG2provided by HGNC Official Full Name discs large MAGUK scaffold protein 2provided by HGNC Primary source HGNC:HGNC:2901 See related Ensembl:ENSG00000150672 MIM:603583; AllianceGenome:HGNC:2901 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 PSD93; PSD-93; PPP1R58; chapsyn-110 Summary This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. The encoded protein forms a heterodimer with a related family member that may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described, but their full-length nature is not known. [provided by RefSeq, Dec 2008] Expression Biased expression in brain (RPKM 9.7), adrenal (RPKM 2.3) and 5 other tissues See more Orthologs mouse all
DLG3, Official Symbol DLG3provided by HGNC Official Full Name discs large MAGUK scaffold protein 3provided by HGNC Primary source HGNC:HGNC:2902 See related Ensembl:ENSG00000082458 MIM:300189; AllianceGenome:HGNC:2902 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 MRX; XLMR; MRX90; NEDLG; SAP102; XLID90; PPP1R82 Summary This gene encodes a member of the membrane-associated guanylate kinase protein family. The encoded protein may play a role in clustering of NMDA receptors at excitatory synapses. It may also negatively regulate cell proliferation through interaction with the C-terminal region of the adenomatosis polyposis coli tumor suppressor protein. Mutations in this gene have been associated with X-linked cognitive disability. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in brain (RPKM 7.8), colon (RPKM 6.2) and 23 other tissues See more Orthologs mouse all
DLG3-AS1, Official Symbol DLG3-AS1provided by HGNC Official Full Name DLG3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40182 See related Ensembl:ENSG00000231651 AllianceGenome:HGNC:40182 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
DLG4, Official Symbol DLG4provided by HGNC Official Full Name discs large MAGUK scaffold protein 4provided by HGNC Primary source HGNC:HGNC:2903 See related Ensembl:ENSG00000132535 MIM:602887; AllianceGenome:HGNC:2903 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 MRD62; PSD95; SAP90; SAP-90 Summary This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. It heteromultimerizes with another MAGUK protein, DLG2, and is recruited into NMDA receptor and potassium channel clusters. These two MAGUK proteins may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 34.6), testis (RPKM 6.2) and 17 other tissues See more Orthologs mouse all
DLG5, Official Symbol DLG5provided by HGNC Official Full Name discs large MAGUK scaffold protein 5provided by HGNC Primary source HGNC:HGNC:2904 See related Ensembl:ENSG00000151208 MIM:604090; AllianceGenome:HGNC:2904 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 PDLG; LP-DLG; P-DLG5 Summary This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 23.0), skin (RPKM 17.3) and 22 other tissues See more Orthologs mouse all
DLG5-AS1, Official Symbol DLG5-AS1provided by HGNC Official Full Name DLG5 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:45109 See related AllianceGenome:HGNC:45109 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DLGAP1, Official Symbol DLGAP1provided by HGNC Official Full Name DLG associated protein 1provided by HGNC Primary source HGNC:HGNC:2905 See related Ensembl:ENSG00000170579 MIM:605445; AllianceGenome:HGNC:2905 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 DAP1; GKAP; DAP-1; SAPAP1; DLGAP1A; DLGAP1B; DAP-1-BETA; DAP-1-ALPHA Summary Predicted to enable molecular adaptor activity. Predicted to be a structural constituent of postsynaptic density. Predicted to be involved in several processes, including aggresome assembly; regulation of postsynaptic neurotransmitter receptor activity; and regulation of proteasomal protein catabolic process. Predicted to be located in plasma membrane. Predicted to be part of postsynaptic density. Predicted to be active in glutamatergic synapse and postsynaptic density, intracellular component. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 19.8), testis (RPKM 1.7) and 2 other tissues See more Orthologs mouse all
DLGAP1-AS3, Official Symbol DLGAP1-AS3provided by HGNC Official Full Name DLGAP1 antisense RNA 3provided by HGNC Primary source HGNC:HGNC:27317 See related Ensembl:ENSG00000263724 AllianceGenome:HGNC:27317 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
DLGAP1-AS4, Official Symbol DLGAP1-AS4provided by HGNC Official Full Name DLGAP1 antisense RNA 4provided by HGNC Primary source HGNC:HGNC:44333 See related AllianceGenome:HGNC:44333 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 Restricted expression toward brain (RPKM 10.4) See more
DLGAP1-AS5, Official Symbol DLGAP1-AS5provided by HGNC Official Full Name DLGAP1 antisense RNA 5provided by HGNC Primary source HGNC:HGNC:27586 See related Ensembl:ENSG00000261520 AllianceGenome:HGNC:27586 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 salivary gland (RPKM 3.9), ovary (RPKM 0.3) and 2 other tissues See more
DLGAP2, Official Symbol DLGAP2provided by HGNC Official Full Name DLG associated protein 2provided by HGNC Primary source HGNC:HGNC:2906 See related Ensembl:ENSG00000198010 MIM:605438; AllianceGenome:HGNC:2906 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 DAP2; SAPAP2; C8orf68; ERICH1-AS1 Summary The product of this gene is a membrane-associated protein that may play a role in synapse organization and signalling in neuronal cells. This gene is biallelically expressed in the brain, however, only the paternal allele is expressed in the testis (PMID:18055845). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2014] Expression Biased expression in brain (RPKM 4.0), testis (RPKM 1.4) and 2 other tissues See more Orthologs mouse all
DLGAP2-AS1, Official Symbol DLGAP2-AS1provided by HGNC Official Full Name DLGAP2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:50467 See related Ensembl:ENSG00000253267 AllianceGenome:HGNC:50467 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 Restricted expression toward testis (RPKM 1.8) See more
DLGAP3, Official Symbol DLGAP3provided by HGNC Official Full Name DLG associated protein 3provided by HGNC Primary source HGNC:HGNC:30368 See related Ensembl:ENSG00000116544 MIM:611413; AllianceGenome:HGNC:30368 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 DAP3; SAPAP3; SPAPA3 Summary Predicted to enable PDZ domain binding activity; molecular adaptor activity; and scaffold protein binding activity. Predicted to be involved in protein-containing complex assembly and regulation of postsynaptic neurotransmitter receptor activity. Predicted to be located in synapse. Predicted to be part of postsynaptic density. Predicted to be active in several cellular components, including cholinergic synapse; glutamatergic synapse; and neuromuscular junction. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 6.5) and testis (RPKM 1.3) See more Orthologs mouse all
DLGAP4, Official Symbol DLGAP4provided by HGNC Official Full Name DLG associated protein 4provided by HGNC Primary source HGNC:HGNC:24476 See related Ensembl:ENSG00000080845 MIM:616191; AllianceGenome:HGNC:24476 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 DAP4; DLP4; DAP-4; SAPAP4; SAPAP-4 Summary The product of this gene is a membrane-associated guanylate kinase found at the postsynaptic density in neuronal cells. It is a signaling molecule that can interact with potassium channels and receptors, as well as other signaling molecules. The protein encoded by this gene can interact with PSD-95 through its guanylate kinase domain and may be involved in clustering PSD-95 in the postsynaptic density region. The encoded protein is one of at least four similar proteins that have been found. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 12.5), endometrium (RPKM 11.0) and 25 other tissues See more Orthologs mouse all
DLGAP4-AS1, Official Symbol DLGAP4-AS1provided by HGNC Official Full Name DLGAP4 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51223 See related Ensembl:ENSG00000232907 AllianceGenome:HGNC:51223 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 CCAT7 Expression Biased expression in testis (RPKM 2.6), spleen (RPKM 0.3) and 6 other tissues See more
DLGAP5, Official Symbol DLGAP5provided by HGNC Official Full Name DLG associated protein 5provided by HGNC Primary source HGNC:HGNC:16864 See related Ensembl:ENSG00000126787 MIM:617859; AllianceGenome:HGNC:16864 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 DLG7; HURP Summary Predicted to enable microtubule binding activity. Predicted to be involved in several processes, including centrosome localization; kinetochore assembly; and mitotic spindle organization. Located in several cellular components, including centrosome; cytosol; and mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in bone marrow (RPKM 9.4), testis (RPKM 9.1) and 12 other tissues See more Orthologs mouse all
DLGAP5P1, Official Symbol DLGAP5P1provided by HGNC Official Full Name DLGAP5 pseudogene 1provided by HGNC Primary source HGNC:HGNC:23945 See related Ensembl:ENSG00000237195 AllianceGenome:HGNC:23945 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DLGAP5P2, Official Symbol DLGAP5P2provided by HGNC Official Full Name DLGAP5 pseudogene 2provided by HGNC Primary source HGNC:HGNC:55016 See related AllianceGenome:HGNC:55016 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DLK1, Official Symbol DLK1provided by HGNC Official Full Name delta like non-canonical Notch ligand 1provided by HGNC Primary source HGNC:HGNC:2907 See related Ensembl:ENSG00000185559 MIM:176290; AllianceGenome:HGNC:2907 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 DLK; FA1; ZOG; pG2; DLK-1; PREF1; Delta1; Pref-1 Summary This gene encodes a transmembrane protein that contains multiple epidermal growth factor repeats that functions as a regulator of cell growth. The encoded protein is involved in the differentiation of several cell types including adipocytes. This gene is located in a region of chromosome 14 frequently showing unparental disomy, and is imprinted and expressed from the paternal allele. A single nucleotide variant in this gene is associated with child and adolescent obesity and shows polar overdominance, where heterozygotes carrying an active paternal allele express the phenotype, while mutant homozygotes are normal. [provided by RefSeq, Nov 2015] Expression Biased expression in placenta (RPKM 382.3) and adrenal (RPKM 208.0) See more Orthologs mouse all
DLK2, Official Symbol DLK2provided by HGNC Official Full Name delta like non-canonical Notch ligand 2provided by HGNC Primary source HGNC:HGNC:21113 See related Ensembl:ENSG00000171462 AllianceGenome:HGNC:21113 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 DLK-2; EGFL9 Summary Predicted to enable Notch binding activity. Involved in negative regulation of Notch signaling pathway. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in skin (RPKM 1.9), prostate (RPKM 1.6) and 23 other tissues See more Orthologs mouse all
DLL1, Official Symbol DLL1provided by HGNC Official Full Name delta like canonical Notch ligand 1provided by HGNC Primary source HGNC:HGNC:2908 See related Ensembl:ENSG00000198719 MIM:606582; AllianceGenome:HGNC:2908 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 DL1; Delta; DELTA1; NEDBAS Summary DLL1 is a human homolog of the Notch Delta ligand and is a member of the delta/serrate/jagged family. It plays a role in mediating cell fate decisions during hematopoiesis. It may play a role in cell-to-cell communication. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in spleen (RPKM 12.9), brain (RPKM 6.2) and 22 other tissues See more Orthologs mouse all
DLL3, Official Symbol DLL3provided by HGNC Official Full Name delta like canonical Notch ligand 3provided by HGNC Primary source HGNC:HGNC:2909 See related Ensembl:ENSG00000090932 MIM:602768; AllianceGenome:HGNC:2909 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 SCDO1 Summary This gene encodes a member of the delta protein ligand family. This family functions as Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. Mutations in this gene cause autosomal recessive spondylocostal dysostosis 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Expression Restricted expression toward brain (RPKM 16.1) See more Orthologs mouse all
DLL4, Official Symbol DLL4provided by HGNC Official Full Name delta like canonical Notch ligand 4provided by HGNC Primary source HGNC:HGNC:2910 See related Ensembl:ENSG00000128917 MIM:605185; AllianceGenome:HGNC:2910 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 AOS6; delta4; hdelta2 Summary This gene is a homolog of the Drosophila delta gene. The delta gene family encodes Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 11.5), fat (RPKM 11.2) and 22 other tissues See more Orthologs mouse all
DLST, Official Symbol DLSTprovided by HGNC Official Full Name dihydrolipoamide S-succinyltransferaseprovided by HGNC Primary source HGNC:HGNC:2911 See related Ensembl:ENSG00000119689 MIM:126063; AllianceGenome:HGNC:2911 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 DLTS; KGD2; PGL7 Summary This gene encodes a mitochondrial protein that belongs to the 2-oxoacid dehydrogenase family. This protein is one of the three components (the E2 component) of the 2-oxoglutarate dehydrogenase complex that catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011] Expression Ubiquitous expression in kidney (RPKM 40.7), heart (RPKM 35.9) and 25 other tissues See more Orthologs mouse all
DLX1, Official Symbol DLX1provided by HGNC Official Full Name distal-less homeobox 1provided by HGNC Primary source HGNC:HGNC:2914 See related Ensembl:ENSG00000144355 MIM:600029; AllianceGenome:HGNC:2914 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 This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein is localized to the nucleus where it may function as a transcriptional regulator of signals from multiple TGF-{beta} superfamily members. The encoded protein may play a role in the control of craniofacial patterning and the differentiation and survival of inhibitory neurons in the forebrain. This gene is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 2. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 2.1), adrenal (RPKM 1.3) and 5 other tissues See more Orthologs mouse all
DLX2, Official Symbol DLX2provided by HGNC Official Full Name distal-less homeobox 2provided by HGNC Primary source HGNC:HGNC:2915 See related Ensembl:ENSG00000115844 MIM:126255; AllianceGenome:HGNC:2915 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 TES1; TES-1 Summary Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 2. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
DLX2-DT, Official Symbol DLX2-DTprovided by HGNC Official Full Name DLX2 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:50638 See related Ensembl:ENSG00000236651 AllianceGenome:HGNC:50638 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 DLX2-AS1; TCONS_00003049 Expression Low expression observed in reference dataset See more
DLX3, Official Symbol DLX3provided by HGNC Official Full Name distal-less homeobox 3provided by HGNC Primary source HGNC:HGNC:2916 See related Ensembl:ENSG00000064195 MIM:600525; AllianceGenome:HGNC:2916 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 AI4; TDO Summary Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. Trichodentoosseous syndrome (TDO), an autosomal dominant condition, has been correlated with DLX3 gene mutation. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 17. Mutations in this gene have been associated with the autosomal dominant conditions trichodentoosseous syndrome and amelogenesis imperfecta with taurodontism. [provided by RefSeq, Jul 2008] Expression Biased expression in skin (RPKM 8.6), placenta (RPKM 4.8) and 2 other tissues See more Orthologs mouse all
DLX4, Official Symbol DLX4provided by HGNC Official Full Name distal-less homeobox 4provided by HGNC Primary source HGNC:HGNC:2917 See related Ensembl:ENSG00000108813 MIM:601911; AllianceGenome:HGNC:2917 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 BP1; DLX7; DLX8; DLX9; OFC15 Summary Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. Three transcript variants have been described for this gene, however, the full length nature of one variant has not been described. Studies of the two splice variants revealed that one encoded isoform functions as a repressor of the beta-globin gene while the other isoform lacks that function. [provided by RefSeq, Jul 2008] Expression Biased expression in placenta (RPKM 1.9), skin (RPKM 0.3) and 3 other tissues See more Orthologs mouse all
DLX5, Official Symbol DLX5provided by HGNC Official Full Name distal-less homeobox 5provided by HGNC Primary source HGNC:HGNC:2918 See related Ensembl:ENSG00000105880 MIM:600028; AllianceGenome:HGNC:2918 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 SHFM1; SHFM1D Summary This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7, may be associated with split-hand/split-foot malformation. [provided by RefSeq, Jul 2008] Expression Biased expression in endometrium (RPKM 4.3), placenta (RPKM 4.0) and 9 other tissues See more Orthologs mouse all
DLX6, Official Symbol DLX6provided by HGNC Official Full Name distal-less homeobox 6provided by HGNC Primary source HGNC:HGNC:2919 See related Ensembl:ENSG00000006377 MIM:600030; AllianceGenome:HGNC:2919 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 This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. This family is comprised of at least 6 different members that encode proteins with roles in forebrain and craniofacial development. This gene is in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7. [provided by RefSeq, Jul 2008] Expression Biased expression in testis (RPKM 2.2), placenta (RPKM 2.1) and 5 other tissues See more Orthologs mouse all
DLX6-AS1, Official Symbol DLX6-AS1provided by HGNC Official Full Name DLX6 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:37151 See related AllianceGenome:HGNC:37151 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 Evf-2; DLX6AS; DLX6-AS; NCRNA00212 Summary Predicted to act upstream of or within positive regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more
DM1-AS, Official Symbol DM1-ASprovided by HGNC Official Full Name DM1 locus antisense RNAprovided by HGNC Primary source HGNC:HGNC:53125 See related Ensembl:ENSG00000267395 AllianceGenome:HGNC:53125 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DMAC1, Official Symbol DMAC1provided by HGNC Official Full Name distal membrane arm assembly component 1provided by HGNC Primary source HGNC:HGNC:30536 See related Ensembl:ENSG00000137038 MIM:617261; AllianceGenome:HGNC:30536 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 TMEM261; C9orf123 Summary Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrial inner membrane. Colocalizes with mitochondrial respiratory chain complex I. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 8.9), kidney (RPKM 8.7) and 25 other tissues See more Orthologs mouse all
DMAC1P1, Official Symbol DMAC1P1provided by HGNC Official Full Name DMAC1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:49128 See related AllianceGenome:HGNC:49128 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 TMEM261P1