psui3905/ncbi_genes_summary huggingface dataset:
HDDC2, Official Symbol HDDC2provided by HGNC Official Full Name HD domain containing 2provided by HGNC Primary source HGNC:HGNC:21078 See related Ensembl:ENSG00000111906 AllianceGenome:HGNC:21078 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 C6orf74; CGI-130; NS5ATP2; dJ167O5.2 Summary Predicted to enable 5'-deoxynucleotidase activity. Predicted to be involved in dephosphorylation. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 20.8), brain (RPKM 17.5) and 25 other tissues See more Orthologs mouse all
HDDC3, Official Symbol HDDC3provided by HGNC Official Full Name HD domain containing 3provided by HGNC Primary source HGNC:HGNC:30522 See related Ensembl:ENSG00000184508 AllianceGenome:HGNC:30522 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 MESH1; (ppGpp)ase Summary Predicted to enable guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 9.9), kidney (RPKM 7.9) and 25 other tissues See more Orthologs mouse all
HDGF, Official Symbol HDGFprovided by HGNC Official Full Name heparin binding growth factorprovided by HGNC Primary source HGNC:HGNC:4856 See related Ensembl:ENSG00000143321 MIM:600339; AllianceGenome:HGNC:4856 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 HMG1L2 Summary This gene encodes a member of the hepatoma-derived growth factor family. The encoded protein has mitogenic and DNA-binding activity and may play a role in cellular proliferation and differentiation. High levels of expression of this gene enhance the growth of many tumors. This gene was thought initially to be located on chromosome X; however, that location has been determined to correspond to a related pseudogene. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in bone marrow (RPKM 90.4), liver (RPKM 48.1) and 25 other tissues See more Orthologs mouse all
HDGFL1, Official Symbol HDGFL1provided by HGNC Official Full Name HDGF like 1provided by HGNC Primary source HGNC:HGNC:21095 See related Ensembl:ENSG00000112273 AllianceGenome:HGNC:21095 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 HRP-1; PWWP1; Hdgfrp1; dJ309H15.1 Summary Predicted to enable double-stranded DNA binding activity and transcription coregulator activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
HDGFL2, Official Symbol HDGFL2provided by HGNC Official Full Name HDGF like 2provided by HGNC Primary source HGNC:HGNC:14680 See related Ensembl:ENSG00000167674 MIM:617884; AllianceGenome:HGNC:14680 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 HRP2; HDGF2; HRP-2; HDGF-2; HDGFRP2 Summary This gene encodes a member of the hepatoma-derived growth factor (HDGF) family. The protein includes an N-terminal PWWP domain that binds to methyl-lysine-containing histones, with specific binding of this protein to tri-methylated lysines 36 and 79 of histone H3, and di- and tri-methylated lysine 20 of histone H4. The protein functions in LEDGF/p75-independent HIV-1 replication by determining HIV-1 integration site selection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014] Expression Ubiquitous expression in testis (RPKM 20.4), brain (RPKM 10.1) and 25 other tissues See more Orthologs mouse all
HDGFL3, Official Symbol HDGFL3provided by HGNC Official Full Name HDGF like 3provided by HGNC Primary source HGNC:HGNC:24937 See related Ensembl:ENSG00000166503 MIM:616643; AllianceGenome:HGNC:24937 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 HDGF2; HRP-3; HDGF-2; CGI-142; HDGFRP3 Summary Predicted to enable double-stranded DNA binding activity; microtubule binding activity; and transcription coregulator activity. Predicted to be involved in several processes, including microtubule polymerization; negative regulation of microtubule depolymerization; and neuron projection development. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 18.5), brain (RPKM 17.0) and 22 other tissues See more Orthologs mouse all
HDGFP1, Official Symbol HDGFP1provided by HGNC Official Full Name heparin binding growth factor pseudogene 1provided by HGNC Primary source HGNC:HGNC:31836 See related AllianceGenome:HGNC:31836 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 HDGFP
HDHD2, Official Symbol HDHD2provided by HGNC Official Full Name haloacid dehalogenase like hydrolase domain containing 2provided by HGNC Primary source HGNC:HGNC:25364 See related Ensembl:ENSG00000167220 AllianceGenome:HGNC:25364 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 HEL-S-301; 3110052N05Rik Summary Enables enzyme binding activity. Predicted to be involved in dephosphorylation. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 11.6), thyroid (RPKM 10.9) and 25 other tissues See more Orthologs mouse all
HDHD3, Official Symbol HDHD3provided by HGNC Official Full Name haloacid dehalogenase like hydrolase domain containing 3provided by HGNC Primary source HGNC:HGNC:28171 See related Ensembl:ENSG00000119431 AllianceGenome:HGNC:28171 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 C9orf158; 2810435D12Rik Summary Located in nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in duodenum (RPKM 36.7), adrenal (RPKM 34.5) and 25 other tissues See more Orthologs mouse all
HDHD5, Official Symbol HDHD5provided by HGNC Official Full Name haloacid dehalogenase like hydrolase domain containing 5provided by HGNC Primary source HGNC:HGNC:1843 See related Ensembl:ENSG00000069998 AllianceGenome:HGNC:1843 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 CECR5 Summary Predicted to be involved in glycerophospholipid biosynthetic process. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in duodenum (RPKM 7.4), heart (RPKM 7.2) and 25 other tissues See more Orthologs mouse all
HDHD5-AS1, Official Symbol HDHD5-AS1provided by HGNC Official Full Name HDHD5 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:1842 See related Ensembl:ENSG00000185837 AllianceGenome:HGNC:1842 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 CECR4; CECR5-AS1; NCRNA00017 Expression Low expression observed in reference dataset See more
HDLBP, Official Symbol HDLBPprovided by HGNC Official Full Name high density lipoprotein binding proteinprovided by HGNC Primary source HGNC:HGNC:4857 See related Ensembl:ENSG00000115677 MIM:142695; AllianceGenome:HGNC:4857 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 HBP; VGL; PRO2900 Summary The protein encoded by this gene binds high density lipoprotein (HDL) and may function to regulate excess cholesterol levels in cells. The encoded protein also binds RNA and can induce heterochromatin formation. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in testis (RPKM 89.6), thyroid (RPKM 63.1) and 25 other tissues See more Orthologs mouse all
HDX, Official Symbol HDXprovided by HGNC Official Full Name highly divergent homeoboxprovided by HGNC Primary source HGNC:HGNC:26411 See related Ensembl:ENSG00000165259 MIM:300994; AllianceGenome:HGNC:26411 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 CXorf43; D030011N01Rik Summary Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. Predicted to be part of chromatin. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
HEATR1, Official Symbol HEATR1provided by HGNC Official Full Name HEAT repeat containing 1provided by HGNC Primary source HGNC:HGNC:25517 See related Ensembl:ENSG00000119285 MIM:620390; AllianceGenome:HGNC:25517 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 BAP28; UTP10 Summary Enables RNA binding activity. Involved in positive regulation of rRNA processing and positive regulation of transcription by RNA polymerase I. Located in fibrillar center and mitochondrion. Implicated in pancreatic ductal carcinoma. Biomarker of glioblastoma. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 12.5), appendix (RPKM 11.0) and 25 other tissues See more Orthologs mouse all
HEATR3, Official Symbol HEATR3provided by HGNC Official Full Name HEAT repeat containing 3provided by HGNC Primary source HGNC:HGNC:26087 See related Ensembl:ENSG00000155393 MIM:614951; AllianceGenome:HGNC:26087 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 SYO1; DBA21 Summary The protein encoded by this gene plays a role in ribosomal protein transport and in the assembly of the 5S ribonucleoprotein particle (5S RNP). The encoded protein also may be involved in NOD2-mediated NF-kappaB signaling. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in appendix (RPKM 5.5), spleen (RPKM 4.5) and 25 other tissues See more Orthologs mouse all
HEATR4, Official Symbol HEATR4provided by HGNC Official Full Name HEAT repeat containing 4provided by HGNC Primary source HGNC:HGNC:16761 See related Ensembl:ENSG00000187105 AllianceGenome:HGNC:16761 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 oxidoreductase activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 3.3), duodenum (RPKM 0.3) and 12 other tissues See more Orthologs mouse all
HEATR5A, Official Symbol HEATR5Aprovided by HGNC Official Full Name HEAT repeat containing 5Aprovided by HGNC Primary source HGNC:HGNC:20276 See related Ensembl:ENSG00000129493 AllianceGenome:HGNC:20276 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 p200b; C14orf125 Summary Predicted to be involved in endocytosis; protein localization; and retrograde transport, endosome to Golgi. Predicted to be located in cytosol. Predicted to be active in endocytic vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in colon (RPKM 6.4), thyroid (RPKM 5.2) and 25 other tissues See more Orthologs mouse all
HEATR5B, Official Symbol HEATR5Bprovided by HGNC Official Full Name HEAT repeat containing 5Bprovided by HGNC Primary source HGNC:HGNC:29273 See related Ensembl:ENSG00000008869 MIM:619627; AllianceGenome:HGNC:29273 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 p200; p200a Summary Predicted to be involved in endocytosis; protein localization; and retrograde transport, endosome to Golgi. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 6.3), thyroid (RPKM 6.0) and 25 other tissues See more Orthologs mouse all
HEATR6, Official Symbol HEATR6provided by HGNC Official Full Name HEAT repeat containing 6provided by HGNC Primary source HGNC:HGNC:24076 See related Ensembl:ENSG00000068097 AllianceGenome:HGNC:24076 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 ABC1 Summary Enables RNA binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 3.1), testis (RPKM 3.0) and 25 other tissues See more Orthologs mouse all
HEATR6-DT, Official Symbol HEATR6-DTprovided by HGNC Official Full Name HEATR6 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:52929 See related Ensembl:ENSG00000267416 AllianceGenome:HGNC:52929 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 esophagus (RPKM 5.2), skin (RPKM 4.1) and 7 other tissues See more
HEATR9, Official Symbol HEATR9provided by HGNC Official Full Name HEAT repeat containing 9provided by HGNC Primary source HGNC:HGNC:26548 See related Ensembl:ENSG00000270379 AllianceGenome:HGNC:26548 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 C17orf66 Summary Predicted to act upstream of or within hematopoietic progenitor cell differentiation. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 5.0) See more Orthologs mouse all
HEBP1, Official Symbol HEBP1provided by HGNC Official Full Name heme binding protein 1provided by HGNC Primary source HGNC:HGNC:17176 See related Ensembl:ENSG00000013583 MIM:605826; AllianceGenome:HGNC:17176 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 HBP; HEBP Summary The full-length protein encoded by this gene is an intracellular tetrapyrrole-binding protein. This protein includes a natural chemoattractant peptide of 21 amino acids at the N-terminus, which is a natural ligand for formyl peptide receptor-like receptor 2 (FPRL2) and promotes calcium mobilization and chemotaxis in monocytes and dendritic cells. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in duodenum (RPKM 103.7), small intestine (RPKM 72.8) and 25 other tissues See more Orthologs mouse all
HEBP2, Official Symbol HEBP2provided by HGNC Official Full Name heme binding protein 2provided by HGNC Primary source HGNC:HGNC:15716 See related Ensembl:ENSG00000051620 MIM:605825; AllianceGenome:HGNC:15716 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 PP23; SOUL; C6orf34; C6ORF34B Summary The protein encoded by this gene is found predominately in the cytoplasm, where it plays a role in the collapse of mitochondrial membrane potential (MMP) prior to necrotic cell death. The encoded protein enhances outer and inner mitochondrial membrane permeabilization, especially under conditions of oxidative stress. [provided by RefSeq, May 2016] Expression Ubiquitous expression in fat (RPKM 80.4), prostate (RPKM 27.2) and 22 other tissues See more Orthologs mouse all
HECA, Official Symbol HECAprovided by HGNC Official Full Name hdc homolog, cell cycle regulatorprovided by HGNC Primary source HGNC:HGNC:21041 See related Ensembl:ENSG00000112406 MIM:607977; AllianceGenome:HGNC:21041 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 HDC; HDCL; HHDC; dJ225E12.1 Summary This gene encodes the homolog of the Drosophila headcase protein, a highly basic, cytoplasmic protein that regulates the re-entry of imaginal cells into the mitotic cycle during adult morphogenesis. In Drosophila, the encoded protein also inhibits terminal branching of neighboring cells during tracheal development. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 16.9), spleen (RPKM 16.5) and 25 other tissues See more Orthologs mouse all
HECTD1, Official Symbol HECTD1provided by HGNC Official Full Name HECT domain E3 ubiquitin protein ligase 1provided by HGNC Primary source HGNC:HGNC:20157 See related Ensembl:ENSG00000092148 MIM:618649; AllianceGenome:HGNC:20157 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 EULIR Summary Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in anatomical structure development; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; and protein K63-linked ubiquitination. Predicted to act upstream of or within several processes, including animal organ development; negative regulation of protein localization to plasma membrane; and protein autoubiquitination. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 22.9), testis (RPKM 20.1) and 25 other tissues See more Orthologs mouse all
HECTD2, Official Symbol HECTD2provided by HGNC Official Full Name HECT domain E3 ubiquitin protein ligase 2provided by HGNC Primary source HGNC:HGNC:26736 See related Ensembl:ENSG00000165338 AllianceGenome:HGNC:26736 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 ubiquitin-protein transferase activity. Predicted to be involved in protein ubiquitination. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 5.7), brain (RPKM 4.5) and 24 other tissues See more Orthologs mouse all
HECTD3, Official Symbol HECTD3provided by HGNC Official Full Name HECT domain E3 ubiquitin protein ligase 3provided by HGNC Primary source HGNC:HGNC:26117 See related Ensembl:ENSG00000126107 MIM:618638; AllianceGenome:HGNC:26117 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The protein encoded by this gene transfers ubiquitin from an E2 ubiquitin-conjugating enzyme to targeted substrates, leading to the degradation of those substrates. The encoded protein has been shown to transfer ubiquitin to TRIOBP to facilitate cell cycle progression, and to STX8. [provided by RefSeq, Dec 2012] Expression Ubiquitous expression in duodenum (RPKM 25.9), small intestine (RPKM 22.6) and 25 other tissues See more Orthologs mouse all
HECTD4, Official Symbol HECTD4provided by HGNC Official Full Name HECT domain E3 ubiquitin protein ligase 4provided by HGNC Primary source HGNC:HGNC:26611 See related Ensembl:ENSG00000173064 MIM:620209; AllianceGenome:HGNC:26611 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 HEEL; POTAGE; NEDSSCC; C12ord51; C12orf51 Summary Predicted to enable ubiquitin-protein transferase activity. Involved in glucose homeostasis and glucose metabolic process. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 8.7), bone marrow (RPKM 7.2) and 25 other tissues See more Orthologs mouse all
HECW1, Official Symbol HECW1provided by HGNC Official Full Name HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1provided by HGNC Primary source HGNC:HGNC:22195 See related Ensembl:ENSG00000002746 MIM:610384; AllianceGenome:HGNC:22195 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 NEDL1 Summary Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in several processes, including cellular protein metabolic process; negative regulation of sodium ion transmembrane transporter activity; and regulation of dendrite morphogenesis. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in kidney (RPKM 3.0), brain (RPKM 2.6) and 3 other tissues See more Orthologs mouse all
HECW1-IT1, Official Symbol HECW1-IT1provided by HGNC Official Full Name HECW1 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41465 See related Ensembl:ENSG00000181211 AllianceGenome:HGNC:41465 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
HECW2, Official Symbol HECW2provided by HGNC Official Full Name HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2provided by HGNC Primary source HGNC:HGNC:29853 See related Ensembl:ENSG00000138411 MIM:617245; AllianceGenome:HGNC:29853 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 NEDL2; NDHSAL Summary This gene encodes a member of a family of E3 ubiquitin ligases which plays an important role in the proliferation, migration and differentiation of neural crest cells as a regulator of glial cell line-derived neurotrophic factor (GDNF)/Ret signaling. This gene also plays an important role in angiogenesis through stabilization of endothelial cell-to-cell junctions as a regulator of angiomotin-like 1 stability. The encoded protein contains an N-terminal calcium/lipid-binding (C2) domain involved in membrane targeting, two-four WW domains responsible for cellular localization and substrate recognition, and a C-terminal homologous with E6-associated protein C-terminus (HECT) catalytic domain. Naturally occurring mutations in this gene are associated with neurodevelopmental delay, hypotonia, and epilepsy. The decreased expression of this gene in the aganglionic colon is associated with Hirschsprung's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017] Expression Broad expression in spleen (RPKM 4.0), placenta (RPKM 3.5) and 19 other tissues See more Orthologs mouse all
HECW2-AS1, Official Symbol HECW2-AS1provided by HGNC Official Full Name HECW2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:54062 See related Ensembl:ENSG00000229056 AllianceGenome:HGNC:54062 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 placenta (RPKM 10.0), prostate (RPKM 6.7) and 7 other tissues See more
HEG1, Official Symbol HEG1provided by HGNC Official Full Name heart development protein with EGF like domains 1provided by HGNC Primary source HGNC:HGNC:29227 See related Ensembl:ENSG00000173706 MIM:614182; AllianceGenome:HGNC:29227 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 HEG; MST112; MSTP112 Summary Predicted to enable calcium ion binding activity. Involved in several processes, including negative regulation of Rho protein signal transduction; negative regulation of Rho-dependent protein serine/threonine kinase activity; and negative regulation of membrane permeability. Located in cell-cell junction. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in thyroid (RPKM 26.8), lung (RPKM 26.7) and 23 other tissues See more Orthologs mouse all
HEIH, Official Symbol HEIHprovided by HGNC Official Full Name hepatocellular carcinoma up-regulated EZH2-associated long non-coding RNAprovided by HGNC Primary source HGNC:HGNC:45049 See related Ensembl:ENSG00000278970 MIM:618615; AllianceGenome:HGNC:45049 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 HCCAT2; LINC-HEIH; LINC00848; lncRNA-HEIH
HELB, Official Symbol HELBprovided by HGNC Official Full Name DNA helicase Bprovided by HGNC Primary source HGNC:HGNC:17196 See related Ensembl:ENSG00000127311 MIM:614539; AllianceGenome:HGNC:17196 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 DHB; hDHB Summary This gene encodes a DNA-dependent ATPase which catalyzes the unwinding of DNA necessary for DNA replication, repair, recombination, and transcription. This gene is thought to function specifically during the S phase entry of the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Expression Broad expression in bone marrow (RPKM 1.7), appendix (RPKM 1.4) and 24 other tissues See more Orthologs mouse all
HELLS, Official Symbol HELLSprovided by HGNC Official Full Name helicase, lymphoid specificprovided by HGNC Primary source HGNC:HGNC:4861 See related Ensembl:ENSG00000119969 MIM:603946; AllianceGenome:HGNC:4861 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 LSH; ICF4; PASG; SALNR; SMARCA6; Nbla10143 Summary This gene encodes a lymphoid-specific helicase. Other helicases function in processes involving DNA strand separation, including replication, repair, recombination, and transcription. This protein is thought to be involved with cellular proliferation and may play a role in leukemogenesis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2014] Annotation information Note: The sequence defining GeneID 220513, which was based on XM_017508.4 and annotated on 12q13.12, currently corresponds to this locus. [08 Feb 2009] Expression Broad expression in testis (RPKM 2.1), bone marrow (RPKM 1.7) and 22 other tissues See more Orthologs mouse all
HELQ, Official Symbol HELQprovided by HGNC Official Full Name helicase, POLQ likeprovided by HGNC Primary source HGNC:HGNC:18536 See related Ensembl:ENSG00000163312 MIM:606769; AllianceGenome:HGNC:18536 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 HEL308 Summary HEL308 is a single-stranded DNA-dependent ATPase and DNA helicase (Marini and Wood, 2002 [PubMed 11751861]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in adrenal (RPKM 4.5), ovary (RPKM 4.1) and 25 other tissues See more Orthologs mouse all
HELT, Official Symbol HELTprovided by HGNC Official Full Name helt bHLH transcription factorprovided by HGNC Primary source HGNC:HGNC:33783 See related Ensembl:ENSG00000187821 MIM:617546; AllianceGenome:HGNC:33783 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 Mgn; HESL; HCM1228; bHLHb44 Summary Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in anterior/posterior pattern specification; regulation of neurogenesis; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including nervous system development; regulation of transcription by RNA polymerase II; and suckling behavior. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
HELZ, Official Symbol HELZprovided by HGNC Official Full Name helicase with zinc fingerprovided by HGNC Primary source HGNC:HGNC:16878 See related Ensembl:ENSG00000198265 MIM:606699; AllianceGenome:HGNC:16878 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 DHRC; DRHC; HUMORF5 Summary HELZ is a member of the superfamily I class of RNA helicases. RNA helicases alter the conformation of RNA by unwinding double-stranded regions, thereby altering the biologic activity of the RNA molecule and regulating access to other proteins (Wagner et al., 1999 [PubMed 10471385]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in testis (RPKM 6.5), ovary (RPKM 6.3) and 25 other tissues See more Orthologs mouse all
HELZ-AS1, Official Symbol HELZ-AS1provided by HGNC Official Full Name HELZ antisense RNA 1provided by HGNC Primary source HGNC:HGNC:55319 See related AllianceGenome:HGNC:55319 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 1.6), kidney (RPKM 0.3) and 4 other tissues See more
HELZ2, Official Symbol HELZ2provided by HGNC Official Full Name helicase with zinc finger 2provided by HGNC Primary source HGNC:HGNC:30021 See related Ensembl:ENSG00000130589 MIM:611265; AllianceGenome:HGNC:30021 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 PDIP-1; PRIC285 Summary The protein encoded by this gene is a nuclear transcriptional co-activator for peroxisome proliferator activated receptor alpha. The encoded protein contains a zinc finger and is a helicase that appears to be part of the peroxisome proliferator activated receptor alpha interacting complex. This gene is a member of the DNA2/NAM7 helicase gene family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in spleen (RPKM 6.7), bone marrow (RPKM 5.2) and 25 other tissues See more Orthologs mouse all
HEMGN, Official Symbol HEMGNprovided by HGNC Official Full Name hemogenprovided by HGNC Primary source HGNC:HGNC:17509 See related Ensembl:ENSG00000136929 MIM:610715; AllianceGenome:HGNC:17509 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 NDR; EDAG; CT155; EDAG-1 Summary Predicted to be involved in regulation of osteoblast differentiation. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in bone marrow (RPKM 77.2) and testis (RPKM 23.8) See more Orthologs mouse all
HEMK1, Official Symbol HEMK1provided by HGNC Official Full Name HemK methyltransferase family member 1provided by HGNC Primary source HGNC:HGNC:24923 See related Ensembl:ENSG00000114735 MIM:618609; AllianceGenome:HGNC:24923 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 HEMK; MTQ1; MPRMC Summary Predicted to enable DNA binding activity and methyltransferase activity. Predicted to be involved in DNA methylation and protein methylation. Predicted to be located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 4.4), ovary (RPKM 4.1) and 25 other tissues See more Orthologs mouse all
HENMT1, Official Symbol HENMT1provided by HGNC Official Full Name HEN methyltransferase 1provided by HGNC Primary source HGNC:HGNC:26400 See related Ensembl:ENSG00000162639 MIM:612178; AllianceGenome:HGNC:26400 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 HEN1; C1orf59 Summary Enables small RNA 2'-O-methyltransferase. Involved in RNA methylation. Predicted to be located in P granule. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 38.3), lymph node (RPKM 5.6) and 13 other tissues See more Orthologs mouse all
HEPACAM, Official Symbol HEPACAMprovided by HGNC Official Full Name hepatic and glial cell adhesion moleculeprovided by HGNC Primary source HGNC:HGNC:26361 See related Ensembl:ENSG00000165478 MIM:611642; AllianceGenome:HGNC:26361 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 HEPN1; MLC2A; MLC2B; GlialCAM Summary The protein encoded by this gene is a single-pass type I membrane protein that localizes to the cytoplasmic side of the cell membrane. The encoded protein acts as a homodimer and is involved in cell motility and cell-matrix interactions. The expression of this gene is downregulated or undetectable in many cancer cell lines, so this may be a tumor suppressor gene. [provided by RefSeq, Jul 2011] Expression Biased expression in brain (RPKM 47.9), fat (RPKM 15.6) and 1 other tissue See more Orthologs mouse all
HEPACAM2, Official Symbol HEPACAM2provided by HGNC Official Full Name HEPACAM family member 2provided by HGNC Primary source HGNC:HGNC:27364 See related Ensembl:ENSG00000188175 MIM:614133; AllianceGenome:HGNC:27364 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 MIKI Summary This gene encodes a protein related to the immunoglobulin superfamily that plays a role in mitosis. Knockdown of this gene results in prometaphase arrest, abnormal nuclear morphology and apoptosis. Poly(ADP-ribosylation) of the encoded protein promotes its translocation to centrosomes, which may stimulate centrosome maturation. A chromosomal deletion including this gene may be associated with myeloid leukemia and myelodysplastic syndrome in human patients. [provided by RefSeq, Oct 2016] Expression Biased expression in colon (RPKM 38.5), small intestine (RPKM 21.6) and 3 other tissues See more Orthologs mouse all
HEPH, Official Symbol HEPHprovided by HGNC Official Full Name hephaestinprovided by HGNC Primary source HGNC:HGNC:4866 See related Ensembl:ENSG00000089472 MIM:300167; AllianceGenome:HGNC:4866 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 CPL Summary This gene encodes a member of the multicopper oxidase protein family. The encoded protein is involved in the transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system, and may be involved in copper transport and homeostasis. In mouse, defects in this gene can lead to severe microcytic anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Expression Broad expression in small intestine (RPKM 39.0), colon (RPKM 38.6) and 16 other tissues See more Orthologs mouse all
HEPHL1, Official Symbol HEPHL1provided by HGNC Official Full Name hephaestin like 1provided by HGNC Primary source HGNC:HGNC:30477 See related Ensembl:ENSG00000181333 MIM:618455; AllianceGenome:HGNC:30477 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 ZP; HJDD Summary Enables ferroxidase activity. Involved in cellular iron ion homeostasis. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in esophagus (RPKM 1.6), testis (RPKM 0.2) and 2 other tissues See more Orthologs mouse all
HEPN1, Official Symbol HEPN1provided by HGNC Official Full Name hepatocellular carcinoma, down-regulated 1provided by HGNC Primary source HGNC:HGNC:34400 See related Ensembl:ENSG00000221932 MIM:611641; AllianceGenome:HGNC:34400 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 is expressed predominantly in the liver. Transient transfection studies show the expression of this gene significantly inhibits cell growth, suggesting a role for this gene in apoptosis. Expression of this gene is down-regulated or lost in hepatocellular carcinomas (HCC), suggesting that loss of this gene is involved in carcinogenesis of hepatocytes (PMID:12971969). This gene maps to the 3'-noncoding region of the HEPACAM gene (GeneID:220296) on the antisense strand. [provided by RefSeq, Aug 2020] Orthologs all
HERC1, Official Symbol HERC1provided by HGNC Official Full Name HECT and RLD domain containing E3 ubiquitin protein ligase family member 1provided by HGNC Primary source HGNC:HGNC:4867 See related Ensembl:ENSG00000103657 MIM:605109; AllianceGenome:HGNC:4867 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 p532; p619; MDFPMR Summary This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012] Expression Ubiquitous expression in brain (RPKM 7.7), ovary (RPKM 7.5) and 25 other tissues See more Orthologs mouse all
HERC2, Official Symbol HERC2provided by HGNC Official Full Name HECT and RLD domain containing E3 ubiquitin protein ligase 2provided by HGNC Primary source HGNC:HGNC:4868 See related Ensembl:ENSG00000128731 MIM:605837; AllianceGenome:HGNC:4868 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 jdf2; p528; MRT38; SHEP1; D15F37S1 Summary This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012] Expression Ubiquitous expression in brain (RPKM 8.9), ovary (RPKM 8.1) and 25 other tissues See more Orthologs mouse all
HERC2P5, Official Symbol HERC2P5provided by HGNC Official Full Name HERC2 pseudogene 5provided by HGNC Primary source HGNC:HGNC:4873 See related Ensembl:ENSG00000260644 AllianceGenome:HGNC:4873 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 D16F37S6
HERC2P6, Official Symbol HERC2P6provided by HGNC Official Full Name HERC2 pseudogene 6provided by HGNC Primary source HGNC:HGNC:4874 See related Ensembl:ENSG00000261418 AllianceGenome:HGNC:4874 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HERC2P8, Official Symbol HERC2P8provided by HGNC Official Full Name HERC2 pseudogene 8provided by HGNC Primary source HGNC:HGNC:38747 See related Ensembl:ENSG00000261599 AllianceGenome:HGNC:38747 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HERC2P9, Official Symbol HERC2P9provided by HGNC Official Full Name HERC2 pseudogene 9provided by HGNC Primary source HGNC:HGNC:30495 See related Ensembl:ENSG00000291082 AllianceGenome:HGNC:30495 Gene type pseudo RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Ubiquitous expression in urinary bladder (RPKM 20.7), brain (RPKM 19.3) and 25 other tissues See more
HERC3, Official Symbol HERC3provided by HGNC Official Full Name HECT and RLD domain containing E3 ubiquitin protein ligase 3provided by HGNC Primary source HGNC:HGNC:4876 See related Ensembl:ENSG00000138641 MIM:605200; AllianceGenome:HGNC:4876 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol and binds ubiquitin via a HECT domain. Mutations in this gene have been associated with colorectal and gastric carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012] Expression Ubiquitous expression in prostate (RPKM 6.4), thyroid (RPKM 5.6) and 25 other tissues See more Orthologs mouse all
HERC4, Official Symbol HERC4provided by HGNC Official Full Name HECT and RLD domain containing E3 ubiquitin protein ligase 4provided by HGNC Primary source HGNC:HGNC:24521 See related Ensembl:ENSG00000148634 MIM:609248; AllianceGenome:HGNC:24521 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 HERC4 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in lymph node (RPKM 8.1), adrenal (RPKM 7.4) and 25 other tissues See more Orthologs mouse all