psui3905/ncbi_genes_summary huggingface dataset:
DYNC2LI1, Official Symbol DYNC2LI1provided by HGNC Official Full Name dynein cytoplasmic 2 light intermediate chain 1provided by HGNC Primary source HGNC:HGNC:24595 See related Ensembl:ENSG00000138036 MIM:617083; AllianceGenome:HGNC:24595 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 LIC3; D2LIC; CGI-60 Summary This gene encodes a protein that is a component of the dynein-2 microtubule motor protein complex that plays a role in the retrograde transport of cargo in primary cilia via the intraflagellar transport system. This gene is ubiquitously expressed and its protein, which localizes to the axoneme and Golgi apparatus, interacts directly with the cytoplasmic dynein 2 heavy chain 1 protein to form part of the multi-protein dynein-2 complex. Mutations in this gene produce defects in the dynein-2 complex which result in several types of ciliopathy including short-rib thoracic dysplasia 15 with polydactyly (SRTD15). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017] Expression Ubiquitous expression in testis (RPKM 10.0), thyroid (RPKM 6.9) and 25 other tissues See more Orthologs mouse all
DYNLL1, Official Symbol DYNLL1provided by HGNC Official Full Name dynein light chain LC8-type 1provided by HGNC Primary source HGNC:HGNC:15476 See related Ensembl:ENSG00000088986 MIM:601562; AllianceGenome:HGNC:15476 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 LC8; PIN; DLC1; DLC8; LC8a; DNCL1; hdlc1; DNCLC1 Summary Cytoplasmic dyneins are large enzyme complexes with a molecular mass of about 1,200 kD. They contain two force-producing heads formed primarily from dynein heavy chains, and stalks linking the heads to a basal domain, which contains a varying number of accessory intermediate chains. The complex is involved in intracellular transport and motility. The protein described in this record is a light chain and exists as part of this complex but also physically interacts with and inhibits the activity of neuronal nitric oxide synthase. Binding of this protein destabilizes the neuronal nitric oxide synthase dimer, a conformation necessary for activity, and it may regulate numerous biologic processes through its effects on nitric oxide synthase activity. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008] 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 Ubiquitous expression in brain (RPKM 141.7), esophagus (RPKM 133.4) and 25 other tissues See more Orthologs mouse all
DYNLL1P6, Official Symbol DYNLL1P6provided by HGNC Official Full Name dynein light chain LC8-type 1 pseudogene 6provided by HGNC Primary source HGNC:HGNC:49657 See related Ensembl:ENSG00000248820 AllianceGenome:HGNC:49657 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DYNLL2, Official Symbol DYNLL2provided by HGNC Official Full Name dynein light chain LC8-type 2provided by HGNC Primary source HGNC:HGNC:24596 See related Ensembl:ENSG00000264364 MIM:608942; AllianceGenome:HGNC:24596 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 Dlc2; DNCL1B; RSPH22 Summary Predicted to enable dynein intermediate chain binding activity and dynein light intermediate chain binding activity. Predicted to be involved in cilium assembly. Located in 9+0 non-motile cilium and centrosome. Is active in glutamatergic synapse and postsynapse. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 120.2), kidney (RPKM 90.1) and 25 other tissues See more Orthologs mouse all
DYNLL2-DT, Official Symbol DYNLL2-DTprovided by HGNC Official Full Name DYNLL2 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:52833 See related Ensembl:ENSG00000266290 AllianceGenome:HGNC:52833 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
DYNLRB1, Official Symbol DYNLRB1provided by HGNC Official Full Name dynein light chain roadblock-type 1provided by HGNC Primary source HGNC:HGNC:15468 See related Ensembl:ENSG00000125971 MIM:607167; AllianceGenome:HGNC:15468 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 BLP; BITH; DNCL2A; DNLC2A; ROBLD1 Summary This gene is a member of the roadblock dynein light chain family. The encoded cytoplasmic protein is capable of binding intermediate chain proteins, interacts with transforming growth factor-beta, and has been implicated in the regulation of actin modulating proteins. Upregulation of this gene has been associated with hepatocellular carcinomas, suggesting that this gene may be involved in tumor progression. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 12 and 18. [provided by RefSeq, Aug 2013] Expression Ubiquitous expression in brain (RPKM 34.0), kidney (RPKM 31.8) and 25 other tissues See more Orthologs mouse all
DYNLRB2, Official Symbol DYNLRB2provided by HGNC Official Full Name dynein light chain roadblock-type 2provided by HGNC Primary source HGNC:HGNC:15467 See related Ensembl:ENSG00000168589 MIM:607168; AllianceGenome:HGNC:15467 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 DNCL2B; DNLC2B; ROBLD2 Summary Predicted to enable dynein intermediate chain binding activity. Predicted to be involved in microtubule-based movement. Predicted to be located in ciliary tip. Predicted to be part of cytoplasmic dynein complex. Predicted to be active in centrosome and cytoplasm. Biomarker of hepatocellular carcinoma. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 21.0) See more Orthologs mouse all
DYNLT1, Official Symbol DYNLT1provided by HGNC Official Full Name dynein light chain Tctex-type 1provided by HGNC Primary source HGNC:HGNC:11697 See related Ensembl:ENSG00000146425 MIM:601554; AllianceGenome:HGNC:11697 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 CW-1; TCTEL1; TCTEX1; tctex-1 Summary This gene encodes a component of the motor complex, cytoplasmic dynein, which transports cellular cargo along microtubules in the cell. The encoded protein regulates the length of primary cilia which are sensory organelles found on the surface of cells. The protein encoded by this gene interacts with viral proteins, like the minor capsid protein L2 of human papillomavirus, and is required for dynein-mediated delivery of the viral nucleic acid to the host nucleus. This protein interacts with oncogenic nucleoporins to disrupt gene regulation and cause leukemic transformation. Pseudogenes of this gene are present on chromosomes 4 and 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014] Expression Ubiquitous expression in testis (RPKM 62.3), colon (RPKM 58.0) and 25 other tissues See more Orthologs all
DYNLT2, Official Symbol DYNLT2provided by HGNC Official Full Name dynein light chain Tctex-type 2provided by HGNC Primary source HGNC:HGNC:11695 See related Ensembl:ENSG00000184786 MIM:186977; AllianceGenome:HGNC:11695 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 TCTE3; TCTEX2; Tctex4; TCTEX1D3 Summary Predicted to enable dynein intermediate chain binding activity. Predicted to be involved in microtubule-based movement. Predicted to be located in cytosol and sperm flagellum. Predicted to be extrinsic component of membrane. Predicted to be part of cytoplasmic dynein complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 8.5), ovary (RPKM 0.9) and 7 other tissues See more Orthologs all
DYNLT2B, Official Symbol DYNLT2Bprovided by HGNC Official Full Name dynein light chain Tctex-type 2Bprovided by HGNC Primary source HGNC:HGNC:28482 See related Ensembl:ENSG00000213123 MIM:617353; AllianceGenome:HGNC:28482 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 SRTD17; TCTEX1D2 Summary Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains. This gene encodes a subunit of the human cytoplasmic dynein-2 complex. Mutations in this gene are associated with short-rib thoracic dysplasia 17 with or without polydactyly. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017] Expression Broad expression in testis (RPKM 12.7), brain (RPKM 6.1) and 23 other tissues See more Orthologs mouse all
DYNLT3, Official Symbol DYNLT3provided by HGNC Official Full Name dynein light chain Tctex-type 3provided by HGNC Primary source HGNC:HGNC:11694 See related Ensembl:ENSG00000165169 MIM:300302; AllianceGenome:HGNC:11694 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 RP3; TCTE1L; TCTEX1L Summary This gene encodes a member of a subclass of dynein light chains. The encoded protein homodimerizes and forms the light chain component of the cytoplasmic dynein motor protein complex. This protein may be important for binding dynein to specific cargos including the spindle checkpoint protein BUB3. This protein may also function independently of dynein as a transcriptional modulator. Pseudogenes of this gene are found on chromosomes 2 and 20.[provided by RefSeq, Mar 2010] Expression Ubiquitous expression in adrenal (RPKM 36.5), esophagus (RPKM 35.0) and 24 other tissues See more Orthologs mouse all
DYNLT3P1, Official Symbol DYNLT3P1provided by HGNC Official Full Name dynein light chain Tctex-type 3 pseudogene 1provided by HGNC Primary source HGNC:HGNC:16571 See related AllianceGenome:HGNC:16571 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 TCTE1P; dJ531H16.2
DYNLT4, Official Symbol DYNLT4provided by HGNC Official Full Name dynein light chain Tctex-type 4provided by HGNC Primary source HGNC:HGNC:32315 See related Ensembl:ENSG00000188396 MIM:611713; AllianceGenome:HGNC:32315 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 TCTEX1D4 Summary Enables protein phosphatase 1 binding activity. Predicted to be involved in microtubule-based movement. Located in acrosomal vesicle; cytoskeleton; and sperm flagellum. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in esophagus (RPKM 3.3), appendix (RPKM 2.9) and 25 other tissues See more Orthologs mouse all
DYNLT5, Official Symbol DYNLT5provided by HGNC Official Full Name dynein light chain Tctex-type family member 5provided by HGNC Primary source HGNC:HGNC:26882 See related Ensembl:ENSG00000152760 MIM:619994; AllianceGenome:HGNC:26882 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 TCTEX1D1 Summary Predicted to enable dynein intermediate chain binding activity. Predicted to be involved in microtubule-based movement. Predicted to be part of cytoplasmic dynein complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in placenta (RPKM 2.7), liver (RPKM 2.4) and 14 other tissues See more Orthologs mouse all
DYRK1A, Official Symbol DYRK1Aprovided by HGNC Official Full Name dual specificity tyrosine phosphorylation regulated kinase 1Aprovided by HGNC Primary source HGNC:HGNC:3091 See related Ensembl:ENSG00000157540 MIM:600855; AllianceGenome:HGNC:3091 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 MNB; DYRK; HP86; MNBH; MRD7; DYRK1 Summary This gene encodes a member of the Dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family. This member contains a nuclear targeting signal sequence, a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive-histidine repeat. It catalyzes its autophosphorylation on serine/threonine and tyrosine residues. It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. This gene is a homolog of Drosophila mnb (minibrain) gene and rat Dyrk gene. It is localized in the Down syndrome critical region of chromosome 21, and is considered to be a strong candidate gene for learning defects associated with Down syndrome. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5' UTR or in the 3' coding region. These variants encode at least five different isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 11.6), testis (RPKM 9.5) and 25 other tissues See more Orthologs mouse all
DYRK1B, Official Symbol DYRK1Bprovided by HGNC Official Full Name dual specificity tyrosine phosphorylation regulated kinase 1Bprovided by HGNC Primary source HGNC:HGNC:3092 See related Ensembl:ENSG00000105204 MIM:604556; AllianceGenome:HGNC:3092 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 MIRK; AOMS3 Summary This gene encodes a member of a family of nuclear-localized protein kinases. The encoded protein participates in the regulation of the cell cycle. Expression of this gene may be altered in tumor cells, and mutations in this gene were found to cause abdominal obesity-metabolic syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] Expression Broad expression in testis (RPKM 21.5), prostate (RPKM 4.7) and 23 other tissues See more Orthologs mouse all
DYRK3, Official Symbol DYRK3provided by HGNC Official Full Name dual specificity tyrosine phosphorylation regulated kinase 3provided by HGNC Primary source HGNC:HGNC:3094 See related Ensembl:ENSG00000143479 MIM:603497; AllianceGenome:HGNC:3094 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 RED; REDK; DYRK5; hYAK3-2 Summary This gene product belongs to the DYRK family of dual-specificity protein kinases that catalyze autophosphorylation on serine/threonine and tyrosine residues. The members of this family share structural similarity, however, differ in their substrate specificity, suggesting their involvement in different cellular functions. The encoded protein has been shown to autophosphorylate on tyrosine residue and catalyze phosphorylation of histones H3 and H2B in vitro. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 8.5), gall bladder (RPKM 5.7) and 19 other tissues See more Orthologs mouse all
DYRK3-AS1, Official Symbol DYRK3-AS1provided by HGNC Official Full Name DYRK3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40199 See related Ensembl:ENSG00000237605 AllianceGenome:HGNC:40199 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 5.9), fat (RPKM 0.7) and 1 other tissue See more
DYRK4, Official Symbol DYRK4provided by HGNC Official Full Name dual specificity tyrosine phosphorylation regulated kinase 4provided by HGNC Primary source HGNC:HGNC:3095 See related Ensembl:ENSG00000010219 MIM:609181; AllianceGenome:HGNC:3095 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 an enzyme that belongs to a conserved family of serine/threonine protein kinases. Members of this dual specificity kinase family are thought to function in the regulation of cell differentiation and proliferation, survival, and in development. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013] Expression Broad expression in testis (RPKM 18.7), thyroid (RPKM 5.2) and 23 other tissues See more Orthologs mouse all
DYSF, Official Symbol DYSFprovided by HGNC Official Full Name dysferlinprovided by HGNC Primary source HGNC:HGNC:3097 See related Ensembl:ENSG00000135636 MIM:603009; AllianceGenome:HGNC:3097 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 MMD1; FER1L1; LGMD2B; LGMDR2 Summary The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008] Expression Broad expression in spleen (RPKM 14.1), placenta (RPKM 13.8) and 21 other tissues See more Orthologs mouse all
DYTN, Official Symbol DYTNprovided by HGNC Official Full Name dystrotelinprovided by HGNC Primary source HGNC:HGNC:23279 See related Ensembl:ENSG00000232125 MIM:618510; AllianceGenome:HGNC:23279 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 belongs to the dystrophin superfamily, which is characterized by the presence of four EF-hand motifs and a ZZ-domain. It is a likely ortholog of the Drosophila 'discontinuous actin hexagon' gene. It is noteworthy that the coding region of this gene lacks two coding exons that are found in the mouse ortholog. Human transcripts including these two exons are subject to nonsense-mediated transcript decay (NMD). On the other hand, transcripts skipping the two coding exons are expressed at very low levels. While this gene maintains an intact CDS, it may be an evolving pseudogene. However, after a discussion about this gene within the RefSeq group, as well as in the consensus coding sequence (CCDS) collaboration, it was decided to keep it as a protein-coding gene in the RefSeq, Ensembl-GENCODE and the CCDS sets. [provided by RefSeq, Jul 2019] Annotation information Note: Although the evidence for the protein-coding potential of this gene is not unambiguous, RefSeq has erred on the side of annotating it as a protein-coding gene. [25 Jul 2019] Expression Low expression observed in reference dataset See more Orthologs mouse all
DZANK1, Official Symbol DZANK1provided by HGNC Official Full Name double zinc ribbon and ankyrin repeat domains 1provided by HGNC Primary source HGNC:HGNC:15858 See related Ensembl:ENSG00000089091 AllianceGenome:HGNC:15858 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 ANKRD64; C20orf12; C20orf84 Summary This gene contains two ankyrin repeat-encoding regions. Ankyrin repeats are tandemly repeated modules of about 33 amino acids described as L-shaped structures consisting of a beta-hairpin and two alpha-helices. Ankyrin repeats occur in a large number of functionally diverse proteins, mainly from eukaryotes, and are known to function as protein-protein interaction domains. [provided by RefSeq, Dec 2018] Expression Broad expression in testis (RPKM 1.9), thyroid (RPKM 1.7) and 23 other tissues See more Orthologs mouse all
DZIP1, Official Symbol DZIP1provided by HGNC Official Full Name DAZ interacting zinc finger protein 1provided by HGNC Primary source HGNC:HGNC:20908 See related Ensembl:ENSG00000134874 MIM:608671; AllianceGenome:HGNC:20908 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 DZIP; MVP3; MMVP3; DZIPt1; SPGF47 Summary Predicted to enable metal ion binding activity. Involved in cilium assembly; germ cell development; and spermatogenesis. Located in cytosol; microtubule organizing center; and nucleoplasm. Colocalizes with centriole. Implicated in mitral valve prolapse and spermatogenic failure 47. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 14.7), kidney (RPKM 9.9) and 20 other tissues See more Orthologs mouse all
DZIP1L, Official Symbol DZIP1Lprovided by HGNC Official Full Name DAZ interacting zinc finger protein 1 likeprovided by HGNC Primary source HGNC:HGNC:26551 See related Ensembl:ENSG00000158163 MIM:617570; AllianceGenome:HGNC:26551 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 PKD5; DZIP2 Summary Predicted to enable metal ion binding activity. Involved in cilium assembly and regulation of protein localization. Located in ciliary basal body. Colocalizes with centriole. Implicated in polycystic kidney disease 5. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in stomach (RPKM 1.1), skin (RPKM 1.0) and 24 other tissues See more Orthologs mouse all
DZIP3, Official Symbol DZIP3provided by HGNC Official Full Name DAZ interacting zinc finger protein 3provided by HGNC Primary source HGNC:HGNC:30938 See related Ensembl:ENSG00000198919 MIM:608672; AllianceGenome:HGNC:30938 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 UURF2; PPP1R66; hRUL138 Summary Enables several functions, including phosphatase binding activity; polyubiquitin modification-dependent protein binding activity; and ubiquitin-protein transferase activity. Involved in protein polyubiquitination. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 21.6), brain (RPKM 12.1) and 21 other tissues See more Orthologs mouse all
E2F1, Official Symbol E2F1provided by HGNC Official Full Name E2F transcription factor 1provided by HGNC Primary source HGNC:HGNC:3113 See related Ensembl:ENSG00000101412 MIM:189971; AllianceGenome:HGNC:3113 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 RBP3; E2F-1; RBAP1; RBBP3 Summary The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F2 and E2F3, have an additional cyclin binding domain. This protein binds preferentially to retinoblastoma protein pRB in a cell-cycle dependent manner. It can mediate both cell proliferation and p53-dependent/independent apoptosis. [provided by RefSeq, Jul 2008] Expression Broad expression in bone marrow (RPKM 12.7), testis (RPKM 5.6) and 17 other tissues See more Orthologs mouse all
E2F2, Official Symbol E2F2provided by HGNC Official Full Name E2F transcription factor 2provided by HGNC Primary source HGNC:HGNC:3114 See related Ensembl:ENSG00000007968 MIM:600426; AllianceGenome:HGNC:3114 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 E2F-2 Summary The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F1 and E2F3, have an additional cyclin binding domain. This protein binds specifically to retinoblastoma protein pRB in a cell-cycle dependent manner, and it exhibits overall 46% amino acid identity to E2F1. [provided by RefSeq, Jul 2008] Expression Biased expression in bone marrow (RPKM 17.6), lymph node (RPKM 3.1) and 8 other tissues See more Orthologs mouse all
E2F3, Official Symbol E2F3provided by HGNC Official Full Name E2F transcription factor 3provided by HGNC Primary source HGNC:HGNC:3115 See related Ensembl:ENSG00000112242 MIM:600427; AllianceGenome:HGNC:3115 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 E2F-3 Summary This gene encodes a member of a small family of transcription factors that function through binding of DP interaction partner proteins. The encoded protein recognizes a specific sequence motif in DNA and interacts directly with the retinoblastoma protein (pRB) to regulate the expression of genes involved in the cell cycle. Altered copy number and activity of this gene have been observed in a number of human cancers. There are pseudogenes for this gene on chromosomes 2 and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] Expression Ubiquitous expression in bone marrow (RPKM 4.1), appendix (RPKM 3.3) and 24 other tissues See more Orthologs mouse all
E2F3-IT1, Official Symbol E2F3-IT1provided by HGNC Official Full Name E2F3 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41329 See related Ensembl:ENSG00000224707 AllianceGenome:HGNC:41329 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 RBAT1
E2F4, Official Symbol E2F4provided by HGNC Official Full Name E2F transcription factor 4provided by HGNC Primary source HGNC:HGNC:3118 See related Ensembl:ENSG00000205250 MIM:600659; AllianceGenome:HGNC:3118 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 E2F-4 Summary The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein binds to all three of the tumor suppressor proteins pRB, p107 and p130, but with higher affinity to the last two. It plays an important role in the suppression of proliferation-associated genes, and its gene mutation and increased expression may be associated with human cancer. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 45.6), placenta (RPKM 31.6) and 25 other tissues See more Orthologs mouse all
E2F4P1, Official Symbol E2F4P1provided by HGNC Official Full Name E2F transcription factor 4 pseudogene 1provided by HGNC Primary source HGNC:HGNC:38684 See related AllianceGenome:HGNC:38684 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
E2F5, Official Symbol E2F5provided by HGNC Official Full Name E2F transcription factor 5provided by HGNC Primary source HGNC:HGNC:3119 See related Ensembl:ENSG00000133740 MIM:600967; AllianceGenome:HGNC:3119 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 E2F-5 Summary The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionarily conserved domains that are present in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein is differentially phosphorylated and is expressed in a wide variety of human tissues. It has higher identity to E2F4 than to other family members. Both this protein and E2F4 interact with tumor suppressor proteins p130 and p107, but not with pRB. Alternative splicing results in multiple variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Broad expression in lymph node (RPKM 12.6), thyroid (RPKM 6.4) and 25 other tissues See more Orthologs mouse all
E2F6, Official Symbol E2F6provided by HGNC Official Full Name E2F transcription factor 6provided by HGNC Primary source HGNC:HGNC:3120 See related Ensembl:ENSG00000169016 MIM:602944; AllianceGenome:HGNC:3120 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 E2F-6 Summary This gene encodes a member of a family of transcription factors that play a crucial role in the control of the cell cycle. The protein encoded by this gene lacks the transactivation and tumor suppressor protein association domains found in other family members, and contains a modular suppression domain that functions in the inhibition of transcription. It interacts in a complex with chromatin modifying factors. There are pseudogenes for this gene on chromosomes 22 and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] Expression Ubiquitous expression in testis (RPKM 4.1), endometrium (RPKM 3.9) and 25 other tissues See more Orthologs mouse all
E2F6P3, Official Symbol E2F6P3provided by HGNC Official Full Name E2F transcription factor 6 pseudogene 3provided by HGNC Primary source HGNC:HGNC:51451 See related AllianceGenome:HGNC:51451 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
E2F7, Official Symbol E2F7provided by HGNC Official Full Name E2F transcription factor 7provided by HGNC Primary source HGNC:HGNC:23820 See related Ensembl:ENSG00000165891 MIM:612046; AllianceGenome:HGNC:23820 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Enables DNA-binding transcription factor activity; cis-regulatory region sequence-specific DNA binding activity; and identical protein binding activity. Involved in several processes, including DNA damage response, signal transduction by p53 class mediator; regulation of transcription, DNA-templated; and sprouting angiogenesis. Located in nuclear speck. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 1.6), bone marrow (RPKM 1.5) and 16 other tissues See more Orthologs mouse all
E2F8, Official Symbol E2F8provided by HGNC Official Full Name E2F transcription factor 8provided by HGNC Primary source HGNC:HGNC:24727 See related Ensembl:ENSG00000129173 MIM:612047; AllianceGenome:HGNC:24727 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 E2F-8 Summary This gene encodes a member of a family of transcription factors which regulate the expression of genes required for progression through the cell cycle. The encoded protein regulates progression from G1 to S phase by ensuring the nucleus divides at the proper time. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2012] Expression Broad expression in bone marrow (RPKM 4.6), lymph node (RPKM 3.5) and 14 other tissues See more Orthologs mouse all
E4F1, Official Symbol E4F1provided by HGNC Official Full Name E4F transcription factor 1provided by HGNC Primary source HGNC:HGNC:3121 See related Ensembl:ENSG00000167967 MIM:603022; AllianceGenome:HGNC:3121 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 E4F Summary The zinc finger protein encoded by this gene is one of several cellular transcription factors whose DNA-binding activities are regulated through the action of adenovirus E1A. A 50-kDa amino-terminal product is generated from the full-length protein through proteolytic cleavage. The protein is differentially regulated by E1A-induced phosphorylation. The full-length gene product represses transcription from the E4 promoter in the absence of E1A, while the 50-kDa form acts as a transcriptional activator in its presence. Alternative splicing results in multiple transcripts encoding different proteins. [provided by RefSeq, Jan 2014] Expression Ubiquitous expression in spleen (RPKM 6.6), prostate (RPKM 5.8) and 25 other tissues See more Orthologs mouse all
EAF1, Official Symbol EAF1provided by HGNC Official Full Name ELL associated factor 1provided by HGNC Primary source HGNC:HGNC:20907 See related Ensembl:ENSG00000144597 MIM:608315; AllianceGenome:HGNC:20907 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Enables transcription elongation regulator activity. Involved in regulation of transcription elongation from RNA polymerase II promoter. Located in intercellular bridge and nuclear body. Part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 21.6), brain (RPKM 8.9) and 25 other tissues See more Orthologs mouse all
EAF1-AS1, Official Symbol EAF1-AS1provided by HGNC Official Full Name EAF1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:42328 See related AllianceGenome:HGNC:42328 Gene type ncRNA Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
EAF2, Official Symbol EAF2provided by HGNC Official Full Name ELL associated factor 2provided by HGNC Primary source HGNC:HGNC:23115 See related Ensembl:ENSG00000145088 MIM:607659; AllianceGenome:HGNC:23115 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 U19; BM040; TRAITS Summary Enables transcription elongation regulator activity. Involved in positive regulation of transcription by RNA polymerase II and regulation of transcription elongation from RNA polymerase II promoter. Part of transcription elongation factor complex. Biomarker of prostate cancer. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in bone marrow (RPKM 6.9), lymph node (RPKM 6.3) and 18 other tissues See more Orthologs mouse all
EAPP, Official Symbol EAPPprovided by HGNC Official Full Name E2F associated phosphoproteinprovided by HGNC Primary source HGNC:HGNC:19312 See related Ensembl:ENSG00000129518 MIM:609486; AllianceGenome:HGNC:19312 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 BM036; C14orf11 Summary This gene encodes a phosphoprotein that interacts with several members of the E2F family of proteins. The protein localizes to the nucleus, and is present throughout the cell cycle except during mitosis. It functions to modulate E2F-regulated transcription and stimulate proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in bone marrow (RPKM 22.0), colon (RPKM 18.0) and 25 other tissues See more Orthologs mouse all
EARS2, Official Symbol EARS2provided by HGNC Official Full Name glutamyl-tRNA synthetase 2, mitochondrialprovided by HGNC Primary source HGNC:HGNC:29419 See related Ensembl:ENSG00000103356 MIM:612799; AllianceGenome:HGNC:29419 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 MSE1; gluRS; COXPD12; mtGlnRS Summary This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of glutamate to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 12 (COXPD12). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015] Expression Ubiquitous expression in thyroid (RPKM 6.6), testis (RPKM 6.4) and 25 other tissues See more Orthologs mouse all
EBAG9, Official Symbol EBAG9provided by HGNC Official Full Name estrogen receptor binding site associated antigen 9provided by HGNC Primary source HGNC:HGNC:3123 See related Ensembl:ENSG00000147654 MIM:605772; AllianceGenome:HGNC:3123 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 EB9; PDAF Summary This gene was identified as an estrogen-responsive gene. Regulation of transcription by estrogen is mediated by estrogen receptor, which binds to the estrogen-responsive element found in the 5'-flanking region of this gene. The encoded protein is a tumor-associated antigen that is expressed at high frequency in a variety of cancers. Alternate splicing results in multiple transcript variants. A pseudogene of this gene has been defined on chromosome 10. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in thyroid (RPKM 14.2), adrenal (RPKM 7.5) and 25 other tissues See more Orthologs mouse all
EBAG9P1, Official Symbol EBAG9P1provided by HGNC Official Full Name EBAG9 pseudogene 1provided by HGNC Primary source HGNC:HGNC:45233 See related Ensembl:ENSG00000233690 AllianceGenome:HGNC:45233 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
EBF1, Official Symbol EBF1provided by HGNC Official Full Name EBF transcription factor 1provided by HGNC Primary source HGNC:HGNC:3126 See related Ensembl:ENSG00000164330 MIM:164343; AllianceGenome:HGNC:3126 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 EBF; COE1; OLF1; O/E-1 Summary Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of transcription, DNA-templated. Predicted to be located in nucleus. Predicted to be part of chromatin. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in fat (RPKM 3.2), placenta (RPKM 0.8) and 17 other tissues See more Orthologs mouse all
EBF2, Official Symbol EBF2provided by HGNC Official Full Name EBF transcription factor 2provided by HGNC Primary source HGNC:HGNC:19090 See related Ensembl:ENSG00000221818 MIM:609934; AllianceGenome:HGNC:19090 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 COE2; OE-3; EBF-2; O/E-3 Summary The protein encoded by this gene belongs to the COE (Collier/Olf/EBF) family of non-basic, helix-loop-helix transcription factors that have a well conserved DNA binding domain. The COE family proteins play an important role in variety of developmental processes. Studies in mouse suggest that this gene may be involved in the differentiation of osteoblasts. [provided by RefSeq, Oct 2011] Expression Biased expression in fat (RPKM 8.6), heart (RPKM 4.4) and 7 other tissues See more Orthologs mouse all
EBF3, Official Symbol EBF3provided by HGNC Official Full Name EBF transcription factor 3provided by HGNC Primary source HGNC:HGNC:19087 See related Ensembl:ENSG00000108001 MIM:607407; AllianceGenome:HGNC:19087 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 COE3; OE-2; EBF-3; HADDS; O/E-2 Summary This gene encodes a member of the early B-cell factor (EBF) family of DNA binding transcription factors. EBF proteins are involved in B-cell differentiation, bone development and neurogenesis, and may also function as tumor suppressors. The encoded protein inhibits cell survival through the regulation of genes involved in cell cycle arrest and apoptosis, and aberrant methylation or deletion of this gene may play a role in multiple malignancies including glioblastoma multiforme and gastric carcinoma. [provided by RefSeq, Sep 2011] Expression Biased expression in fat (RPKM 8.2), lymph node (RPKM 3.7) and 12 other tissues See more Orthologs mouse all