psui3905/ncbi_genes_summary huggingface dataset:
ETV3, Official Symbol ETV3provided by HGNC Official Full Name ETS variant transcription factor 3provided by HGNC Primary source HGNC:HGNC:3492 See related Ensembl:ENSG00000117036 MIM:164873; AllianceGenome:HGNC:3492 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 PE1; METS; PE-1 Summary Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in cell differentiation and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 12.1), gall bladder (RPKM 6.8) and 25 other tissues See more Orthologs mouse all
ETV3L, Official Symbol ETV3Lprovided by HGNC Official Full Name ETS variant transcription factor 3 likeprovided by HGNC Primary source HGNC:HGNC:33834 See related Ensembl:ENSG00000253831 AllianceGenome:HGNC:33834 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in cell differentiation and regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
ETV4, Official Symbol ETV4provided by HGNC Official Full Name ETS variant transcription factor 4provided by HGNC Primary source HGNC:HGNC:3493 See related Ensembl:ENSG00000175832 MIM:600711; AllianceGenome:HGNC:3493 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 E1AF; PEA3; E1A-F; PEAS3 Summary Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of keratinocyte differentiation and positive regulation of transcription by RNA polymerase II. Located in chromosome and nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in thyroid (RPKM 3.5), brain (RPKM 3.4) and 20 other tissues See more Orthologs mouse all
ETV5, Official Symbol ETV5provided by HGNC Official Full Name ETS variant transcription factor 5provided by HGNC Primary source HGNC:HGNC:3494 See related Ensembl:ENSG00000244405 MIM:601600; AllianceGenome:HGNC:3494 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 ERM Summary Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in cellular response to oxidative stress; negative regulation of transcription by RNA polymerase II; and positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 25.8), adrenal (RPKM 22.0) and 23 other tissues See more Orthologs mouse all
ETV5-AS1, Official Symbol ETV5-AS1provided by HGNC Official Full Name ETV5 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40222 See related AllianceGenome:HGNC:40222 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
ETV6, Official Symbol ETV6provided by HGNC Official Full Name ETS variant transcription factor 6provided by HGNC Primary source HGNC:HGNC:3495 See related Ensembl:ENSG00000139083 MIM:600618; AllianceGenome:HGNC:3495 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 TEL; THC5; TEL/ABL Summary This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. [provided by RefSeq, Sep 2008] Expression Ubiquitous expression in appendix (RPKM 7.0), bone marrow (RPKM 6.7) and 25 other tissues See more Orthologs mouse all
ETV7, Official Symbol ETV7provided by HGNC Official Full Name ETS variant transcription factor 7provided by HGNC Primary source HGNC:HGNC:18160 See related Ensembl:ENSG00000010030 MIM:605255; AllianceGenome:HGNC:18160 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 TEL2; TELB; TEL-2 Summary The protein encoded by this gene belongs to the ETS family of transcription factors, which is a large group of evolutionarily conserved transcriptional regulators that play an important role in a variety of cellular processes throughout development and differentiation, and are involved in oncogenesis as well. This protein is predominantly expressed in hematopoietic tissues. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene (PMID:11108721).[provided by RefSeq, May 2011] Expression Broad expression in duodenum (RPKM 4.4), small intestine (RPKM 3.6) and 19 other tissues See more Orthologs all
EVA1A, Official Symbol EVA1Aprovided by HGNC Official Full Name eva-1 homolog A, regulator of programmed cell deathprovided by HGNC Primary source HGNC:HGNC:25816 See related Ensembl:ENSG00000115363 MIM:618990; AllianceGenome:HGNC:25816 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 FAM176A; TMEM166 Summary Predicted to be involved in apoptotic process and autophagy. Located in intracellular membrane-bounded organelle and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in liver (RPKM 20.6), lung (RPKM 8.7) and 7 other tissues See more Orthologs mouse all
EVA1A-AS, Official Symbol EVA1A-ASprovided by HGNC Official Full Name EVA1A antisense RNAprovided by HGNC Primary source HGNC:HGNC:55283 See related Ensembl:ENSG00000231172 AllianceGenome:HGNC:55283 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 EVA1A-AS1 Expression Low expression observed in reference dataset See more
EVA1B, Official Symbol EVA1Bprovided by HGNC Official Full Name eva-1 homolog Bprovided by HGNC Primary source HGNC:HGNC:25558 See related Ensembl:ENSG00000142694 AllianceGenome:HGNC:25558 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 C1orf78; FAM176B Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in kidney (RPKM 6.9), fat (RPKM 6.6) and 23 other tissues See more Orthologs mouse all
EVA1C, Official Symbol EVA1Cprovided by HGNC Official Full Name eva-1 homolog Cprovided by HGNC Primary source HGNC:HGNC:13239 See related Ensembl:ENSG00000166979 AllianceGenome:HGNC:13239 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 B18; B19; SUE21; PRED34; FAM176C; C21orf63; C21orf64 Summary Enables heparin binding activity. Colocalizes with extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 3.9), gall bladder (RPKM 3.7) and 25 other tissues See more Orthologs mouse all
EVC, Official Symbol EVCprovided by HGNC Official Full Name EvC ciliary complex subunit 1provided by HGNC Primary source HGNC:HGNC:3497 See related Ensembl:ENSG00000072840 MIM:604831; AllianceGenome:HGNC:3497 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 EVC1; EVCL; DWF-1 Summary This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008] Expression Broad expression in ovary (RPKM 10.7), kidney (RPKM 10.3) and 23 other tissues See more Orthologs mouse all
EVC2, Official Symbol EVC2provided by HGNC Official Full Name EvC ciliary complex subunit 2provided by HGNC Primary source HGNC:HGNC:19747 See related Ensembl:ENSG00000173040 MIM:607261; AllianceGenome:HGNC:19747 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 LBN; WAD Summary This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in ovary (RPKM 2.2), endometrium (RPKM 1.3) and 22 other tissues See more Orthologs mouse all
EVI2A, Official Symbol EVI2Aprovided by HGNC Official Full Name ecotropic viral integration site 2Aprovided by HGNC Primary source HGNC:HGNC:3499 See related Ensembl:ENSG00000126860 MIM:158380; AllianceGenome:HGNC:3499 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 EVDA; EVI2; EVI-2A Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 20.1), appendix (RPKM 18.9) and 18 other tissues See more Orthologs mouse all
EVI2B, Official Symbol EVI2Bprovided by HGNC Official Full Name ecotropic viral integration site 2Bprovided by HGNC Primary source HGNC:HGNC:3500 See related Ensembl:ENSG00000185862 MIM:158381; AllianceGenome:HGNC:3500 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 EVDB; CD361; D17S376 Summary Involved in positive regulation of granulocyte differentiation. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lymph node (RPKM 78.2), spleen (RPKM 77.3) and 15 other tissues See more Orthologs mouse all
EVI5, Official Symbol EVI5provided by HGNC Official Full Name ecotropic viral integration site 5provided by HGNC Primary source HGNC:HGNC:3501 See related Ensembl:ENSG00000067208 MIM:602942; AllianceGenome:HGNC:3501 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 NB4S; EVI-5 Summary Enables GTPase activator activity and small GTPase binding activity. Involved in positive regulation of GTPase activity and retrograde transport, endosome to Golgi. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 3.8), placenta (RPKM 3.5) and 25 other tissues See more Orthologs mouse all
EVI5L, Official Symbol EVI5Lprovided by HGNC Official Full Name ecotropic viral integration site 5 likeprovided by HGNC Primary source HGNC:HGNC:30464 See related Ensembl:ENSG00000142459 AllianceGenome:HGNC:30464 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 GTPase activator activity and small GTPase binding activity. Involved in negative regulation of cilium assembly and positive regulation of GTPase activity. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 14.8), brain (RPKM 11.9) and 23 other tissues See more Orthologs mouse all
EVL, Official Symbol EVLprovided by HGNC Official Full Name Enah/Vasp-likeprovided by HGNC Primary source HGNC:HGNC:20234 See related Ensembl:ENSG00000196405 MIM:616912; AllianceGenome:HGNC:20234 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 RNB6 Summary Predicted to enable SH3 domain binding activity and profilin binding activity. Involved in negative regulation of epithelial cell migration; negative regulation of ruffle assembly; and positive regulation of stress fiber assembly. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lymph node (RPKM 31.5), spleen (RPKM 27.6) and 24 other tissues See more Orthologs mouse all
EVPL, Official Symbol EVPLprovided by HGNC Official Full Name envoplakinprovided by HGNC Primary source HGNC:HGNC:3503 See related Ensembl:ENSG00000167880 MIM:601590; AllianceGenome:HGNC:3503 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 EVPK Summary This gene encodes a member of the plakin family of proteins that forms a component of desmosomes and the epidermal cornified envelope. This gene is located in the tylosis oesophageal cancer locus on chromosome 17q25, and its deletion is associated with both familial and sporadic forms of oesophageal squamous cell carcinoma. Patients suffering from the autoimmune mucocutaneous disorder, paraneoplastic pemphigus, develop antibodies against the encoded protein. [provided by RefSeq, Jul 2016] Expression Biased expression in skin (RPKM 47.9), esophagus (RPKM 41.4) and 9 other tissues See more Orthologs mouse all
EVPLL, Official Symbol EVPLLprovided by HGNC Official Full Name envoplakin likeprovided by HGNC Primary source HGNC:HGNC:35236 See related Ensembl:ENSG00000214860 AllianceGenome:HGNC:35236 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable structural molecule activity. Predicted to be involved in intermediate filament cytoskeleton organization and wound healing. Predicted to be located in cornified envelope. Predicted to be active in cytoplasm and membrane. Predicted to colocalize with intermediate filament. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in skin (RPKM 3.2), esophagus (RPKM 2.4) and 9 other tissues See more Orthologs all
EVX1, Official Symbol EVX1provided by HGNC Official Full Name even-skipped homeobox 1provided by HGNC Primary source HGNC:HGNC:3506 See related Ensembl:ENSG00000106038 MIM:142996; AllianceGenome:HGNC:3506 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 EVX-1 Summary This gene encodes a member of the even-skipped homeobox family characterized by the presence of a homeodomain closely related to the Drosophila even-skipped (eve) segmentation gene of the pair-rule class. The encoded protein may play an important role as a transcriptional repressor during embryogenesis. [provided by RefSeq, Jul 2008] Expression Biased expression in prostate (RPKM 2.2), adrenal (RPKM 1.7) and 3 other tissues See more Orthologs mouse all
EVX1-AS, Official Symbol EVX1-ASprovided by HGNC Official Full Name EVX1 antisense RNAprovided by HGNC Primary source HGNC:HGNC:40223 See related Ensembl:ENSG00000253405 AllianceGenome:HGNC:40223 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 EVX1-AS1 Summary Predicted to enable chromatin binding activity. Predicted to be part of histone methyltransferase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in prostate (RPKM 5.7), adrenal (RPKM 4.4) and 3 other tissues See more Orthologs mouse all
EVX2, Official Symbol EVX2provided by HGNC Official Full Name even-skipped homeobox 2provided by HGNC Primary source HGNC:HGNC:3507 See related Ensembl:ENSG00000174279 MIM:142991; AllianceGenome:HGNC:3507 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 EVX-2 Summary This gene is located at the 5' end of the HOXD gene cluster on chromosome 2. The encoded protein is a homeobox transcription factor that is related to the protein encoded by the Drosophila even-skipped (eve) gene, a member of the pair-rule class of segmentation genes. A 117 kb microdeletion at the 5' end of the HOXD gene cluster, which includes this gene and the HOXD9-HOXD13 genes, causes synpolydactyly, a dominantly inherited disease resulting in limb malformation. [provided by RefSeq, Sep 2009] Expression Low expression observed in reference dataset See more Orthologs mouse all
EWSAT1, Official Symbol EWSAT1provided by HGNC Official Full Name Ewing sarcoma associated transcript 1provided by HGNC Primary source HGNC:HGNC:26596 See related Ensembl:ENSG00000212766 MIM:616492; AllianceGenome:HGNC:26596 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 TMEM84; LINC00277; NCRNA00277 Expression Biased expression in testis (RPKM 2.1), kidney (RPKM 0.6) and 4 other tissues See more
EWSR1, Official Symbol EWSR1provided by HGNC Official Full Name EWS RNA binding protein 1provided by HGNC Primary source HGNC:HGNC:3508 See related Ensembl:ENSG00000182944 MIM:133450; AllianceGenome:HGNC:3508 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 EWS; EWS-FLI1; bK984G1.4 Summary This gene encodes a multifunctional protein that is involved in various cellular processes, including gene expression, cell signaling, and RNA processing and transport. The protein includes an N-terminal transcriptional activation domain and a C-terminal RNA-binding domain. Chromosomal translocations between this gene and various genes encoding transcription factors result in the production of chimeric proteins that are involved in tumorigenesis. These chimeric proteins usually consist of the N-terminal transcriptional activation domain of this protein fused to the C-terminal DNA-binding domain of the transcription factor protein. Mutations in this gene, specifically a t(11;22)(q24;q12) translocation, are known to cause Ewing sarcoma as well as neuroectodermal and various other tumors. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1 and 14. [provided by RefSeq, Jul 2009] Expression Ubiquitous expression in testis (RPKM 27.8), bone marrow (RPKM 27.6) and 25 other tissues See more Orthologs mouse all
EXD1, Official Symbol EXD1provided by HGNC Official Full Name exonuclease 3'-5' domain containing 1provided by HGNC Primary source HGNC:HGNC:28507 See related Ensembl:ENSG00000178997 AllianceGenome:HGNC:28507 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 EXDL1 Summary Predicted to enable RNA binding activity and protein homodimerization activity. Predicted to be involved in gene silencing by RNA and piRNA metabolic process. Predicted to be located in P granule. Predicted to be part of PET complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 6.1) See more Orthologs mouse all
EXD2, Official Symbol EXD2provided by HGNC Official Full Name exonuclease 3'-5' domain containing 2provided by HGNC Primary source HGNC:HGNC:20217 See related Ensembl:ENSG00000081177 MIM:616940; AllianceGenome:HGNC:20217 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 EXDL2; C14orf114 Summary Enables 3'-5' exonuclease activity; metal ion binding activity; and protein homodimerization activity. Involved in nucleic acid metabolic process. Located in intermediate filament cytoskeleton; mitochondrial outer membrane; and site of DNA damage. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 9.7), brain (RPKM 8.0) and 25 other tissues See more Orthologs mouse all
EXD3, Official Symbol EXD3provided by HGNC Official Full Name exonuclease 3'-5' domain containing 3provided by HGNC Primary source HGNC:HGNC:26023 See related Ensembl:ENSG00000187609 AllianceGenome:HGNC:26023 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 Nbr; mut-7 Summary Predicted to enable 3'-5' exonuclease activity. Predicted to be involved in nucleic acid phosphodiester bond hydrolysis. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 2.6), fat (RPKM 2.4) and 25 other tissues See more Orthologs all
EXO1, Official Symbol EXO1provided by HGNC Official Full Name exonuclease 1provided by HGNC Primary source HGNC:HGNC:3511 See related Ensembl:ENSG00000174371 MIM:606063; AllianceGenome:HGNC:3511 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 HEX1; hExoI Summary This gene encodes a protein with 5' to 3' exonuclease activity as well as an RNase H activity. It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involved in mismatch repair and recombination. Alternative splicing of this gene results in three transcript variants encoding two different isoforms. [provided by RefSeq, Jul 2008] Expression Biased expression in bone marrow (RPKM 3.9), testis (RPKM 2.9) and 13 other tissues See more Orthologs mouse all
EXO5, Official Symbol EXO5provided by HGNC Official Full Name exonuclease 5provided by HGNC Primary source HGNC:HGNC:26115 See related Ensembl:ENSG00000164002 MIM:618601; AllianceGenome:HGNC:26115 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 DEM1; Exo V; hExo5; C1orf176 Summary The protein encoded by this gene is a single-stranded DNA (ssDNA)-specific exonuclease that can slide along the DNA before cutting it. However, human replication protein A binds ssDNA and restricts sliding of the encoded protein, providing a 5'-directionality to the enzyme. This protein localizes to nuclear repair loci after DNA damage. [provided by RefSeq, Nov 2016] Expression Ubiquitous expression in lymph node (RPKM 2.5), appendix (RPKM 2.1) and 25 other tissues See more Orthologs mouse all
EXOC1, Official Symbol EXOC1provided by HGNC Official Full Name exocyst complex component 1provided by HGNC Primary source HGNC:HGNC:30380 See related Ensembl:ENSG00000090989 MIM:607879; AllianceGenome:HGNC:30380 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 SEC3; SEC3P; BM-102; SEC3L1 Summary The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 10.9), skin (RPKM 9.9) and 25 other tissues See more Orthologs mouse all
EXOC1L, Official Symbol EXOC1Lprovided by HGNC Official Full Name exocyst complex component 1 likeprovided by HGNC Primary source HGNC:HGNC:53433 See related Ensembl:ENSG00000250821 AllianceGenome:HGNC:53433 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable phosphatidylinositol-4,5-bisphosphate binding activity. Predicted to be involved in Golgi to plasma membrane transport and exocytosis. Predicted to be part of exocyst. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs all
EXOC2, Official Symbol EXOC2provided by HGNC Official Full Name exocyst complex component 2provided by HGNC Primary source HGNC:HGNC:24968 See related Ensembl:ENSG00000112685 MIM:615329; AllianceGenome:HGNC:24968 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 SEC5; Sec5p; SEC5L1; NEDFACH Summary The protein encoded by this gene is a component of the exocyst complex, a multi-protein complex essential for the polarized targeting of exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and the functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. This interaction has been shown to mediate filopodia formation in fibroblasts. This protein has been shown to interact with the Ral subfamily of GTPases and thereby mediate exocytosis by tethering vesicles to the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] Expression Ubiquitous expression in testis (RPKM 4.7), thyroid (RPKM 3.9) and 25 other tissues See more Orthologs mouse all
EXOC3, Official Symbol EXOC3provided by HGNC Official Full Name exocyst complex component 3provided by HGNC Primary source HGNC:HGNC:30378 See related Ensembl:ENSG00000180104 MIM:608186; AllianceGenome:HGNC:30378 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 SEC6; Sec6p; SEC6L1 Summary The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in colon (RPKM 23.5), kidney (RPKM 21.1) and 25 other tissues See more Orthologs mouse all
EXOC3-AS1, Official Symbol EXOC3-AS1provided by HGNC Official Full Name EXOC3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:25175 See related AllianceGenome:HGNC:25175 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 C5orf55 Summary Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
EXOC3L1, Official Symbol EXOC3L1provided by HGNC Official Full Name exocyst complex component 3 like 1provided by HGNC Primary source HGNC:HGNC:27540 See related Ensembl:ENSG00000179044 MIM:614117; AllianceGenome:HGNC:27540 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 EXOC3L Summary Predicted to enable SNARE binding activity. Predicted to be involved in exocyst localization; exocytosis; and peptide hormone secretion. Predicted to be located in secretory granule. Predicted to be part of exocyst. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in spleen (RPKM 14.8), placenta (RPKM 3.6) and 9 other tissues See more Orthologs mouse all
EXOC3L2, Official Symbol EXOC3L2provided by HGNC Official Full Name exocyst complex component 3 like 2provided by HGNC Primary source HGNC:HGNC:30162 See related Ensembl:ENSG00000283632 MIM:616927; AllianceGenome:HGNC:30162 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 XTP7 Summary The protein encoded by this gene is upregulated by vascular endothelial growth factor A and interacts with exocyst complex component 4. The encoded protein may be part of an exocyst complex that plays a role in cell membrane dynamics. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, May 2017] Expression Broad expression in kidney (RPKM 8.1), spleen (RPKM 4.9) and 17 other tissues See more Orthologs mouse all
EXOC3L4, Official Symbol EXOC3L4provided by HGNC Official Full Name exocyst complex component 3 like 4provided by HGNC Primary source HGNC:HGNC:20120 See related Ensembl:ENSG00000205436 AllianceGenome:HGNC:20120 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 C14orf73 Summary Predicted to enable SNARE binding activity. Predicted to be involved in exocyst localization and exocytosis. Predicted to be part of exocyst. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in duodenum (RPKM 4.9), small intestine (RPKM 2.6) and 10 other tissues See more Orthologs mouse all
EXOC4, Official Symbol EXOC4provided by HGNC Official Full Name exocyst complex component 4provided by HGNC Primary source HGNC:HGNC:30389 See related Ensembl:ENSG00000131558 MIM:608185; AllianceGenome:HGNC:30389 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 SEC8; Sec8p; SEC8L1 Summary The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 6.6), brain (RPKM 6.1) and 25 other tissues See more Orthologs mouse all
EXOC5, Official Symbol EXOC5provided by HGNC Official Full Name exocyst complex component 5provided by HGNC Primary source HGNC:HGNC:10696 See related Ensembl:ENSG00000070367 MIM:604469; AllianceGenome:HGNC:10696 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 SEC10; HSEC10; SEC10P; PRO1912; SEC10L1 Summary The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 17.5), brain (RPKM 9.4) and 25 other tissues See more Orthologs mouse all
EXOC5P1, Official Symbol EXOC5P1provided by HGNC Official Full Name exocyst complex component 5 pseudogene 1provided by HGNC Primary source HGNC:HGNC:43870 See related Ensembl:ENSG00000180673 AllianceGenome:HGNC:43870 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
EXOC6, Official Symbol EXOC6provided by HGNC Official Full Name exocyst complex component 6provided by HGNC Primary source HGNC:HGNC:23196 See related Ensembl:ENSG00000138190 MIM:609672; AllianceGenome:HGNC:23196 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 SEC15; EXOC6A; SEC15L; Sec15p; SEC15L1; SEC15L3 Summary The protein encoded by this gene is highly similar to the Saccharomyces cerevisiae SEC15 gene product, which is essential for vesicular traffic from the Golgi apparatus to the cell surface in yeast. It is one of the components of a multiprotein complex required for exocytosis. The 5' portion of this gene and two neighboring cytochrome p450 genes are included in a deletion that results in an autosomal-dominant form of nonsyndromic optic nerve aplasia (ONA). Alternative splicing and the use of alternative promoters results in multiple transcript variants. A paralogous gene encoding a similar protein is present on chromosome 2. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in thyroid (RPKM 11.4), placenta (RPKM 9.4) and 25 other tissues See more Orthologs mouse all
EXOC6B, Official Symbol EXOC6Bprovided by HGNC Official Full Name exocyst complex component 6Bprovided by HGNC Primary source HGNC:HGNC:17085 See related Ensembl:ENSG00000144036 MIM:607880; AllianceGenome:HGNC:17085 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 SEC15B; SEC15L2; SEMDJL3 Summary This gene encodes a protein which is a part of the evolutionarily conserved exocyst, a multimeric protein complex necessary for exocytosis, which in turn, is crucial for cell growth, polarity and migration. Disruption of this gene may be associated with phenotypes exhibiting multiple symptoms including intellectual disability and developmental delay (DD). [provided by RefSeq, Jun 2016] Expression Ubiquitous expression in heart (RPKM 12.8), brain (RPKM 8.7) and 23 other tissues See more Orthologs mouse all
EXOC7, Official Symbol EXOC7provided by HGNC Official Full Name exocyst complex component 7provided by HGNC Primary source HGNC:HGNC:23214 See related Ensembl:ENSG00000182473 MIM:608163; AllianceGenome:HGNC:23214 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 BLOM4; EX070; EXO70; EXOC1; 2-5-3p; Exo70p; NEDSEBA; YJL085W Summary The protein encoded by this gene is a component of the exocyst complex. The exocyst complex plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. The encoded protein is required for assembly of the exocyst complex and docking of the complex to the plasma membrane. The encoded protein may also play a role in pre-mRNA splicing through interactions with pre-mRNA-processing factor 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Nov 2011] Expression Ubiquitous expression in prostate (RPKM 23.4), brain (RPKM 22.0) and 25 other tissues See more Orthologs mouse all
EXOC8, Official Symbol EXOC8provided by HGNC Official Full Name exocyst complex component 8provided by HGNC Primary source HGNC:HGNC:24659 See related Ensembl:ENSG00000116903 MIM:615283; AllianceGenome:HGNC:24659 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 EXO84; SEC84; Exo84p; NEDMISB Summary This gene encodes a component of the exocyst complex, an evolutionarily conserved multi-protein complex that plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. This protein is a target of activated Ral subfamily of GTPases and thereby regulates exocytosis by tethering vesicles to the plasma membrane. Mutations in this gene may be related to Joubert syndrome. [provided by RefSeq, Sep 2016] Orthologs mouse all
EXOG, Official Symbol EXOGprovided by HGNC Official Full Name exo/endonuclease Gprovided by HGNC Primary source HGNC:HGNC:3347 See related Ensembl:ENSG00000157036 MIM:604051; AllianceGenome:HGNC:3347 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 ENGL; ENGLA; ENGLB; ENGL-a; ENGL-b; ENDOGL1; ENDOGL2 Summary This gene encodes an endo/exonuclease with 5'-3' exonuclease activity. The encoded enzyme catalyzes the hydrolysis of ester linkages at the 5' end of a nucleic acid chain. This enzyme is localized to the mitochondria and may play a role in programmed cell death. Alternatively spliced transcript variants have been described. A pseudogene exists on chromosome 18. [provided by RefSeq, Feb 2009] Expression Ubiquitous expression in heart (RPKM 2.2), lymph node (RPKM 1.6) and 25 other tissues See more Orthologs mouse all
EXOSC1, Official Symbol EXOSC1provided by HGNC Official Full Name exosome component 1provided by HGNC Primary source HGNC:HGNC:17286 See related Ensembl:ENSG00000171311 MIM:606493; AllianceGenome:HGNC:17286 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 p13; CSL4; SKI4; Csl4p; PCH1F; Ski4p; CGI-108 Summary This gene encodes a core component of the exosome. The mammalian exosome is required for rapid degradation of AU rich element-containing RNAs but not for poly(A) shortening. The association of this protein with the exosome is mediated by protein-protein interactions with ribosomal RNA-processing protein 42 and ribosomal RNA-processing protein 46. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in lymph node (RPKM 9.3), urinary bladder (RPKM 7.6) and 25 other tissues See more Orthologs mouse all
EXOSC10, Official Symbol EXOSC10provided by HGNC Official Full Name exosome component 10provided by HGNC Primary source HGNC:HGNC:9138 See related Ensembl:ENSG00000171824 MIM:605960; AllianceGenome:HGNC:9138 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 p2; p3; p4; RRP6; PMSCL; Rrp6p; PM-Scl; PMSCL2; PM/Scl-100 Summary Enables 3'-5'-exoribonuclease activity. Involved in several processes, including RNA catabolic process; maturation of 5.8S rRNA; and negative regulation of telomere maintenance via telomerase. Located in cytosol; nuclear lumen; and transcriptionally active chromatin. Part of nuclear exosome (RNase complex). [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 18.4), testis (RPKM 18.0) and 25 other tissues See more Orthologs mouse all
EXOSC10-AS1, Official Symbol EXOSC10-AS1provided by HGNC Official Full Name EXOSC10 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40456 See related Ensembl:ENSG00000230337 AllianceGenome:HGNC:40456 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 Ubiquitous expression in testis (RPKM 2.6), ovary (RPKM 2.2) and 25 other tissues See more
EXOSC2, Official Symbol EXOSC2provided by HGNC Official Full Name exosome component 2provided by HGNC Primary source HGNC:HGNC:17097 See related Ensembl:ENSG00000130713 MIM:602238; AllianceGenome:HGNC:17097 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 p7; RRP4; SHRF; Rrp4p; hRrp4p Summary Predicted to enable RNA binding activity. Involved in positive regulation of cell growth. Located in cytoplasm; nucleolus; and nucleoplasm. Part of nuclear exosome (RNase complex). [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 5.3), ovary (RPKM 5.1) and 25 other tissues See more Orthologs mouse all
EXOSC3, Official Symbol EXOSC3provided by HGNC Official Full Name exosome component 3provided by HGNC Primary source HGNC:HGNC:17944 See related Ensembl:ENSG00000107371 MIM:606489; AllianceGenome:HGNC:17944 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 p10; PCH1B; RRP40; Rrp40p; CGI-102; hRrp-40; bA3J10.7 Summary This gene encodes a non-catalytic component of the human exosome, a complex with 3'-5' exoribonuclease activity that plays a role in numerous RNA processing and degradation activities. Related pseudogenes of this gene are found on chromosome 19 and 21. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2012] Expression Ubiquitous expression in testis (RPKM 9.5), lymph node (RPKM 7.7) and 25 other tissues See more Orthologs mouse all
EXOSC4, Official Symbol EXOSC4provided by HGNC Official Full Name exosome component 4provided by HGNC Primary source HGNC:HGNC:18189 See related Ensembl:ENSG00000178896 MIM:606491; AllianceGenome:HGNC:18189 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 SKI6; p12A; RRP41; Ski6p; RRP41A; Rrp41p; hRrp41p Summary Enables mRNA 3'-UTR AU-rich region binding activity. Involved in nucleic acid metabolic process and positive regulation of cell growth. Acts upstream of or within defense response to virus. Located in cytosol; nucleoplasm; and transcriptionally active chromatin. Part of exosome (RNase complex). [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 19.8), kidney (RPKM 7.7) and 25 other tissues See more Orthologs mouse all