psui3905/ncbi_genes_summary huggingface dataset:
SULT1E1, Official Symbol SULT1E1provided by HGNC Official Full Name sulfotransferase family 1E member 1provided by HGNC Primary source HGNC:HGNC:11377 See related Ensembl:ENSG00000109193 MIM:600043; AllianceGenome:HGNC:11377 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 EST; STE; EST-1; ST1E1 Summary Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that transfers a sulfo moiety to and from estrone, which may control levels of estrogen receptors. [provided by RefSeq, Jul 2008] Expression Biased expression in small intestine (RPKM 11.9), duodenum (RPKM 11.7) and 4 other tissues See more Orthologs all
SULT2A1, Official Symbol SULT2A1provided by HGNC Official Full Name sulfotransferase family 2A member 1provided by HGNC Primary source HGNC:HGNC:11458 See related Ensembl:ENSG00000105398 MIM:125263; AllianceGenome:HGNC:11458 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 HST; ST2; STD; hSTa; DHEAS; ST2A1; ST2A3; DHEA-ST; SULT2A3; DHEA-ST8 Summary This gene encodes a member of the sulfotransferase family. Sulfotransferases aid in the metabolism of drugs and endogenous compounds by converting these substances into more hydrophilic water-soluble sulfate conjugates that can be easily excreted. This protein catalyzes the sulfation of steroids and bile acids in the liver and adrenal glands, and may have a role in the inherited adrenal androgen excess in women with polycystic ovary syndrome. [provided by RefSeq, Mar 2010] Expression Biased expression in liver (RPKM 300.0), adrenal (RPKM 86.0) and 2 other tissues See more Orthologs all
SULT2B1, Official Symbol SULT2B1provided by HGNC Official Full Name sulfotransferase family 2B member 1provided by HGNC Primary source HGNC:HGNC:11459 See related Ensembl:ENSG00000088002 MIM:604125; AllianceGenome:HGNC:11459 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 HSST2; ARCI14 Summary Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene sulfates dehydroepiandrosterone but not 4-nitrophenol, a typical substrate for the phenol and estrogen sulfotransferase subfamilies. Two alternatively spliced variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008] Expression Biased expression in esophagus (RPKM 55.8), skin (RPKM 46.5) and 4 other tissues See more Orthologs mouse all
SULT4A1, Official Symbol SULT4A1provided by HGNC Official Full Name sulfotransferase family 4A member 1provided by HGNC Primary source HGNC:HGNC:14903 See related Ensembl:ENSG00000130540 MIM:608359; AllianceGenome:HGNC:14903 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 NST; BRSTL1; SULTX3; BR-STL-1; DJ388M5.3; hBR-STL-1 Summary This gene encodes a member of the sulfotransferase family. The encoded protein is a brain-specific sulfotransferase believed to be involved in the metabolism of neurotransmitters. Polymorphisms in this gene may be associated with susceptibility to schizophrenia. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 30.9), duodenum (RPKM 4.1) and 2 other tissues See more Orthologs mouse all
SULT6B1, Official Symbol SULT6B1provided by HGNC Official Full Name sulfotransferase family 6B member 1provided by HGNC Primary source HGNC:HGNC:33433 See related Ensembl:ENSG00000138068 MIM:617152; AllianceGenome:HGNC:33433 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 ST6B1 Summary Predicted to enable sulfotransferase activity. Predicted to be involved in sulfation. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
SUMF1, Official Symbol SUMF1provided by HGNC Official Full Name sulfatase modifying factor 1provided by HGNC Primary source HGNC:HGNC:20376 See related Ensembl:ENSG00000144455 MIM:607939; AllianceGenome:HGNC:20376 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 FGE; UNQ3037; AAPA3037 Summary This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] Expression Ubiquitous expression in kidney (RPKM 5.9), thyroid (RPKM 5.6) and 25 other tissues See more Orthologs mouse all
SUMF2, Official Symbol SUMF2provided by HGNC Official Full Name sulfatase modifying factor 2provided by HGNC Primary source HGNC:HGNC:20415 See related Ensembl:ENSG00000129103 MIM:607940; AllianceGenome:HGNC:20415 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 pFGE Summary The catalytic sites of sulfatases are only active if they contain a unique amino acid, C-alpha-formylglycine (FGly). The FGly residue is posttranslationally generated from a cysteine by enzymes with FGly-generating activity. The gene described in this record is a member of the sulfatase-modifying factor family and encodes a protein with a DUF323 domain that localizes to the lumen of the endoplasmic reticulum. This protein has low levels of FGly-generating activity but can heterodimerize with another family member - a protein with high levels of FGly-generating activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 45.6), kidney (RPKM 41.8) and 25 other tissues See more Orthologs mouse all
SUMO1, Official Symbol SUMO1provided by HGNC Official Full Name small ubiquitin like modifier 1provided by HGNC Primary source HGNC:HGNC:12502 See related Ensembl:ENSG00000116030 MIM:601912; AllianceGenome:HGNC:12502 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 DAP1; GMP1; PIC1; SMT3; UBL1; OFC10; SENP2; SMT3C; SMT3H3 Summary This gene encodes a protein that is a member of the SUMO (small ubiquitin-like modifier) protein family. It functions in a manner similar to ubiquitin in that it is bound to target proteins as part of a post-translational modification system. However, unlike ubiquitin which targets proteins for degradation, this protein is involved in a variety of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability. It is not active until the last four amino acids of the carboxy-terminus have been cleaved off. Several pseudogenes have been reported for this gene. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 51.9), adrenal (RPKM 51.8) and 25 other tissues See more Orthologs mouse all
SUMO1P1, Official Symbol SUMO1P1provided by HGNC Official Full Name SUMO1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:33148 See related AllianceGenome:HGNC:33148 Gene type pseudo RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as UBL2; UBL6; PIC1L Summary Enables identical protein binding activity. Involved in PML body organization and protein sumoylation. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
SUMO2, Official Symbol SUMO2provided by HGNC Official Full Name small ubiquitin like modifier 2provided by HGNC Primary source HGNC:HGNC:11125 See related Ensembl:ENSG00000188612 MIM:603042; AllianceGenome:HGNC:11125 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 HSMT3; SMT3B; SUMO3; Smt3A; SMT3H2 Summary This gene encodes a protein that is a member of the SUMO (small ubiquitin-like modifier) protein family. It functions in a manner similar to ubiquitin in that it is bound to target proteins as part of a post-translational modification system. However, unlike ubiquitin which targets proteins for degradation, this protein is involved in a variety of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability. It is not active until the last two amino acids of the carboxy-terminus have been cleaved off. Numerous pseudogenes have been reported for this gene. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in endometrium (RPKM 121.8), lymph node (RPKM 108.7) and 25 other tissues See more Orthologs mouse all
SUMO2P12, Official Symbol SUMO2P12provided by HGNC Official Full Name SUMO2 pseudogene 12provided by HGNC Primary source HGNC:HGNC:49350 See related Ensembl:ENSG00000218893 AllianceGenome:HGNC:49350 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SUMO2P13, Official Symbol SUMO2P13provided by HGNC Official Full Name SUMO2 pseudogene 13provided by HGNC Primary source HGNC:HGNC:49351 See related Ensembl:ENSG00000218359 AllianceGenome:HGNC:49351 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SUMO2P14, Official Symbol SUMO2P14provided by HGNC Official Full Name SUMO2 pseudogene 14provided by HGNC Primary source HGNC:HGNC:49352 See related Ensembl:ENSG00000271096 AllianceGenome:HGNC:49352 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SUMO2P15, Official Symbol SUMO2P15provided by HGNC Official Full Name SUMO2 pseudogene 15provided by HGNC Primary source HGNC:HGNC:49353 See related Ensembl:ENSG00000271236 AllianceGenome:HGNC:49353 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SUMO2P16, Official Symbol SUMO2P16provided by HGNC Official Full Name SUMO2 pseudogene 16provided by HGNC Primary source HGNC:HGNC:49354 See related Ensembl:ENSG00000253579 AllianceGenome:HGNC:49354 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SUMO2P17, Official Symbol SUMO2P17provided by HGNC Official Full Name SUMO2 pseudogene 17provided by HGNC Primary source HGNC:HGNC:49358 See related AllianceGenome:HGNC:49358 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SUMO2P19, Official Symbol SUMO2P19provided by HGNC Official Full Name SUMO2 pseudogene 19provided by HGNC Primary source HGNC:HGNC:49357 See related Ensembl:ENSG00000253328 AllianceGenome:HGNC:49357 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SUMO2P20, Official Symbol SUMO2P20provided by HGNC Official Full Name SUMO2 pseudogene 20provided by HGNC Primary source HGNC:HGNC:49355 See related AllianceGenome:HGNC:49355 Gene type pseudo RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SUMO2P21, Official Symbol SUMO2P21provided by HGNC Official Full Name SUMO2 pseudogene 21provided by HGNC Primary source HGNC:HGNC:55054 See related AllianceGenome:HGNC:55054 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SUMO2P5, Official Symbol SUMO2P5provided by HGNC Official Full Name SUMO2 pseudogene 5provided by HGNC Primary source HGNC:HGNC:39015 See related Ensembl:ENSG00000251663 AllianceGenome:HGNC:39015 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SUMO3, Official Symbol SUMO3provided by HGNC Official Full Name small ubiquitin like modifier 3provided by HGNC Primary source HGNC:HGNC:11124 See related Ensembl:ENSG00000184900 MIM:602231; AllianceGenome:HGNC:11124 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 SMT3A; Smt3B; SMT3H1; SUMO-3 Summary This gene encodes a member of the small ubiquitin-related modifier (SUMO) family of eukaryotic proteins. The encoded protein is covalently conjugated to other proteins via a post-translation modification known as sumoylation. Sumoylation may play a role in a wide variety of cellular processes, including nuclear transport, DNA replication and repair, mitosis, transcriptional regulation, and signal transduction. Alternatively spliced transcript variants encoding distinct proteins have been described. [provided by RefSeq, Feb 2014] Expression Ubiquitous expression in brain (RPKM 42.6), bone marrow (RPKM 40.3) and 25 other tissues See more Orthologs mouse all
SUMO4, Official Symbol SUMO4provided by HGNC Official Full Name small ubiquitin like modifier 4provided by HGNC Primary source HGNC:HGNC:21181 See related Ensembl:ENSG00000177688 MIM:608829; AllianceGenome:HGNC:21181 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 IDDM5; SMT3H4; SUMO-4; dJ281H8.4 Summary This gene is a member of the SUMO gene family. This family of genes encode small ubiquitin-related modifiers that are attached to proteins and control the target proteins' subcellular localization, stability, or activity. The protein described in this record is located in the cytoplasm and specifically modifies IKBA, leading to negative regulation of NF-kappa-B-dependent transcription of the IL12B gene. A specific polymorphism in this SUMO gene, which leads to the M55V substitution, has been associated with type I diabetes. The RefSeq contains this polymorphism. [provided by RefSeq, Jul 2008] Orthologs all
SUN1, Official Symbol SUN1provided by HGNC Official Full Name Sad1 and UNC84 domain containing 1provided by HGNC Primary source HGNC:HGNC:18587 See related Ensembl:ENSG00000164828 MIM:607723; AllianceGenome:HGNC:18587 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 UNC84A Summary This gene is a member of the unc-84 homolog family and encodes a nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2019] Expression Ubiquitous expression in endometrium (RPKM 45.0), skin (RPKM 41.1) and 25 other tissues See more Orthologs mouse all
SUN2, Official Symbol SUN2provided by HGNC Official Full Name Sad1 and UNC84 domain containing 2provided by HGNC Primary source HGNC:HGNC:14210 See related Ensembl:ENSG00000100242 MIM:613569; AllianceGenome:HGNC:14210 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 UNC84B; rab5IP Summary SUN1 (MIM 607723) and SUN2 are inner nuclear membrane (INM) proteins that play a major role in nuclear-cytoplasmic connection by formation of a 'bridge' across the nuclear envelope, known as the LINC complex, via interaction with the conserved luminal KASH domain of nesprins (e.g., SYNE1; MIM 608441) located in the outer nuclear membrane (ONM). The LINC complex provides a direct connection between the nuclear lamina and the cytoskeleton, which contributes to nuclear positioning and cellular rigidity (summary by Haque et al., 2010 [PubMed 19933576]).[supplied by OMIM, Nov 2010] Expression Ubiquitous expression in fat (RPKM 47.2), bone marrow (RPKM 33.2) and 25 other tissues See more Orthologs mouse all
SUN3, Official Symbol SUN3provided by HGNC Official Full Name Sad1 and UNC84 domain containing 3provided by HGNC Primary source HGNC:HGNC:22429 See related Ensembl:ENSG00000164744 MIM:618984; AllianceGenome:HGNC:22429 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 SUNC1 Summary Predicted to enable protein-membrane adaptor activity. Predicted to be involved in nuclear envelope organization. Predicted to be integral component of nuclear inner membrane. Predicted to be part of meiotic nuclear membrane microtubule tethering complex. Predicted to be active in nuclear envelope. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 18.0) See more Orthologs mouse all
SUN5, Official Symbol SUN5provided by HGNC Official Full Name Sad1 and UNC84 domain containing 5provided by HGNC Primary source HGNC:HGNC:16252 See related Ensembl:ENSG00000167098 MIM:613942; AllianceGenome:HGNC:16252 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 SPAG4L; SPGF16; TSARG4; dJ726C3.1 Summary The protein encoded by this gene appears to play a role in the meiotic stage of spermatogenesis. The encoded protein localizes to the junction between the sperm head and body and may be involved in nuclear envelope reconstitution and nuclear migration. Mutations in this gene have been implicated in acephalic spermatozoa syndrome. [provided by RefSeq, May 2017] Expression Restricted expression toward testis (RPKM 7.9) See more Orthologs mouse all
SUOX, Official Symbol SUOXprovided by HGNC Official Full Name sulfite oxidaseprovided by HGNC Primary source HGNC:HGNC:11460 See related Ensembl:ENSG00000139531 MIM:606887; AllianceGenome:HGNC:11460 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 Sulfite oxidase is a homodimeric protein localized to the intermembrane space of mitochondria. Each subunit contains a heme domain and a molybdopterin-binding domain. The enzyme catalyzes the oxidation of sulfite to sulfate, the final reaction in the oxidative degradation of the sulfur amino acids cysteine and methionine. Sulfite oxidase deficiency results in neurological abnormalities which are often fatal at an early age. Alternative splicing results in multiple transcript variants encoding identical proteins. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 16.6), liver (RPKM 11.2) and 24 other tissues See more Orthologs mouse all
SUPT16H, Official Symbol SUPT16Hprovided by HGNC Official Full Name SPT16 homolog, facilitates chromatin remodeling subunitprovided by HGNC Primary source HGNC:HGNC:11465 See related Ensembl:ENSG00000092201 MIM:605012; AllianceGenome:HGNC:11465 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 CDC68; SPT16; NEDDFAC; FACTP140; SPT16/CDC68 Summary Transcription of protein-coding genes can be reconstituted on naked DNA with only the general transcription factors and RNA polymerase II. However, this minimal system cannot transcribe DNA packaged into chromatin, indicating that accessory factors may facilitate access to DNA. One such factor, FACT (facilitates chromatin transcription), interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT is composed of an 80 kDa subunit and a 140 kDa subunit; this gene encodes the 140 kDa subunit. [provided by RefSeq, Feb 2009] Expression Ubiquitous expression in testis (RPKM 30.8), lymph node (RPKM 27.6) and 25 other tissues See more Orthologs mouse all
SUPT16HP1, Official Symbol SUPT16HP1provided by HGNC Official Full Name SPT16 homolog, facilitates chromatin remodeling subunit pseudogene 1provided by HGNC Primary source HGNC:HGNC:31388 See related Ensembl:ENSG00000256238 AllianceGenome:HGNC:31388 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 bcm670; SUPT16HP
SUPT20H, Official Symbol SUPT20Hprovided by HGNC Official Full Name SPT20 homolog, SAGA complex componentprovided by HGNC Primary source HGNC:HGNC:20596 See related Ensembl:ENSG00000102710 MIM:613417; AllianceGenome:HGNC:20596 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 C13; FP757; P38IP; SPT20; FAM48A; C13orf19 Summary Predicted to enable transcription coregulator activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of gluconeogenesis and positive regulation of transcription by RNA polymerase II. Part of SAGA-type complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 29.4), endometrium (RPKM 11.5) and 25 other tissues See more Orthologs mouse all
SUPT20HL1, Official Symbol SUPT20HL1provided by HGNC Official Full Name SUPT20H like 1provided by HGNC Primary source HGNC:HGNC:30773 See related Ensembl:ENSG00000223731 AllianceGenome:HGNC:30773 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 SPT20L; FAM48B1 Summary Predicted to enable transcription coregulator activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be part of SAGA complex. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
SUPT20HL2, Official Symbol SUPT20HL2provided by HGNC Official Full Name SUPT20H like 2provided by HGNC Primary source HGNC:HGNC:31797 See related Ensembl:ENSG00000223611 AllianceGenome:HGNC:31797 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 FAM48B1; FAM48B2 Summary Predicted to enable transcription coregulator activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
SUPT3H, Official Symbol SUPT3Hprovided by HGNC Official Full Name SPT3 homolog, SAGA and STAGA complex componentprovided by HGNC Primary source HGNC:HGNC:11466 See related Ensembl:ENSG00000196284 MIM:602947; AllianceGenome:HGNC:11466 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 SPT3; SPT3L Summary Enables transcription coactivator activity. Involved in histone H3 acetylation and histone deubiquitination. Located in nucleoplasm. Part of SAGA complex and transcription factor TFTC complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 1.4), ovary (RPKM 1.0) and 24 other tissues See more Orthologs mouse all
SUPT4H1, Official Symbol SUPT4H1provided by HGNC Official Full Name SPT4 homolog, DSIF elongation factor subunitprovided by HGNC Primary source HGNC:HGNC:11467 See related Ensembl:ENSG00000213246 MIM:603555; AllianceGenome:HGNC:11467 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 SPT4; SPT4H; SUPT4H; Supt4a Summary This gene encodes the small subunit of DRB (5,6-dichloro-1-beta-d-ribofuranosylbenzimidazole) sensitivity-inducing factor (DSIF) complex, which regulates mRNA processing and transcription elongation by RNA polymerase II. The encoded protein is localized to the nucleus and interacts with the large subunit (SUPT5H) to form the DSIF complex. Related pseudogenes have been identified on chromosomes 2 and 12. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012] Expression Ubiquitous expression in bone marrow (RPKM 34.4), brain (RPKM 26.3) and 25 other tissues See more Orthologs mouse all
SUPT4H1P1, Official Symbol SUPT4H1P1provided by HGNC Official Full Name SPT4 homolog, DSIF elongation factor subunit pseudogeneprovided by HGNC Primary source HGNC:HGNC:33981 See related AllianceGenome:HGNC:33981 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 SUPT4H1P
SUPT5H, Official Symbol SUPT5Hprovided by HGNC Official Full Name SPT5 homolog, DSIF elongation factor subunitprovided by HGNC Primary source HGNC:HGNC:11469 See related Ensembl:ENSG00000196235 MIM:602102; AllianceGenome:HGNC:11469 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 SPT5; SPT5H; Tat-CT1 Summary Enables enzyme binding activity and protein heterodimerization activity. Involved in positive regulation of macroautophagy; regulation of RNA metabolic process; and transcription elongation from RNA polymerase II promoter. Located in nucleoplasm. Part of DSIF complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 64.5), bone marrow (RPKM 32.4) and 25 other tissues See more Orthologs mouse all
SUPT6H, Official Symbol SUPT6Hprovided by HGNC Official Full Name SPT6 homolog, histone chaperone and transcription elongation factorprovided by HGNC Primary source HGNC:HGNC:11470 See related Ensembl:ENSG00000109111 MIM:601333; AllianceGenome:HGNC:11470 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 SPT6; SPT6H; emb-5 Summary Enables histone binding activity. Involved in negative regulation of histone H3-K27 methylation and positive regulation of transcription elongation from RNA polymerase II promoter. Predicted to be located in nucleoplasm. Predicted to be part of transcription elongation factor complex. Predicted to be active in transcriptionally active chromatin. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 15.3), ovary (RPKM 14.3) and 25 other tissues See more Orthologs mouse all
SUPT7L, Official Symbol SUPT7Lprovided by HGNC Official Full Name SPT7 like, STAGA complex subunit gammaprovided by HGNC Primary source HGNC:HGNC:30632 See related Ensembl:ENSG00000119760 MIM:612762; AllianceGenome:HGNC:30632 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 SPT7L; STAF65; SUPT7H; STAF65G; STAF65(gamma) Summary SUPT7L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).[supplied by OMIM, Apr 2009] Expression Ubiquitous expression in brain (RPKM 10.8), spleen (RPKM 8.8) and 25 other tissues See more Orthologs mouse all
SUPV3L1, Official Symbol SUPV3L1provided by HGNC Official Full Name Suv3 like RNA helicaseprovided by HGNC Primary source HGNC:HGNC:11471 See related Ensembl:ENSG00000156502 MIM:605122; AllianceGenome:HGNC:11471 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 SUV3 Summary Enables helicase activity; nucleic acid binding activity; and protein homodimerization activity. Involved in several processes, including mitochondrial RNA metabolic process; mitochondrion morphogenesis; and positive regulation of mitochondrial RNA catabolic process. Located in mitochondrial nucleoid and nucleus. Part of mitochondrial degradosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 11.2), bone marrow (RPKM 8.5) and 25 other tissues See more Orthologs mouse all
SURF1, Official Symbol SURF1provided by HGNC Official Full Name SURF1 cytochrome c oxidase assembly factorprovided by HGNC Primary source HGNC:HGNC:11474 See related Ensembl:ENSG00000148290 MIM:185620; AllianceGenome:HGNC:11474 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 SHY1; CMT4K; MC4DN1 Summary This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 18.7), kidney (RPKM 18.3) and 25 other tissues See more Orthologs mouse all
SURF2, Official Symbol SURF2provided by HGNC Official Full Name surfeit 2provided by HGNC Primary source HGNC:HGNC:11475 See related Ensembl:ENSG00000148291 MIM:185630; AllianceGenome:HGNC:11475 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 SURF-2 Summary This gene shares a bidirectional promoter with surfeit 1 (SURF1; GeneID: 6834), which is located on the opposite strand. It encodes a conserved protein that is expressed in a variety of tissues. [provided by RefSeq, Jul 2013] Expression Broad expression in testis (RPKM 30.3), kidney (RPKM 8.2) and 25 other tissues See more Orthologs mouse all
SURF4, Official Symbol SURF4provided by HGNC Official Full Name surfeit 4provided by HGNC Primary source HGNC:HGNC:11476 See related Ensembl:ENSG00000148248 MIM:185660; AllianceGenome:HGNC:11476 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 ERV29 Summary This gene is located in the surfeit gene cluster, which is comprised of very tightly linked housekeeping genes that do not share sequence similarity. The encoded protein is a conserved integral membrane protein that interacts with endoplasmic reticulum-Golgi intermediate compartment proteins. Disruption of this gene results in reduced numbers of endoplasmic reticulum-Golgi intermediate compartment clusters and redistribution of coat protein I to the cytosol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in duodenum (RPKM 40.0), small intestine (RPKM 39.7) and 25 other tissues See more Orthologs mouse all
SURF6, Official Symbol SURF6provided by HGNC Official Full Name surfeit 6provided by HGNC Primary source HGNC:HGNC:11478 See related Ensembl:ENSG00000148296 MIM:185642; AllianceGenome:HGNC:11478 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 RRP14 Summary This gene encodes a conserved protein that is localized to the nucleolus. The encoded protein may function as a nucleolar-matrix protein with nucleic acid-binding properties. There is a pseudogene for this gene on chromosome Y. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in colon (RPKM 12.0), ovary (RPKM 11.5) and 25 other tissues See more Orthologs mouse all
SURF6P1, Official Symbol SURF6P1provided by HGNC Official Full Name surfeit 6 pseudogene 1provided by HGNC Primary source HGNC:HGNC:37722 See related AllianceGenome:HGNC:37722 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SUSD1, Official Symbol SUSD1provided by HGNC Official Full Name sushi domain containing 1provided by HGNC Primary source HGNC:HGNC:25413 See related Ensembl:ENSG00000106868 AllianceGenome:HGNC:25413 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 calcium ion binding activity. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 5.9), urinary bladder (RPKM 5.8) and 25 other tissues See more Orthologs mouse all
SUSD2, Official Symbol SUSD2provided by HGNC Official Full Name sushi domain containing 2provided by HGNC Primary source HGNC:HGNC:30667 See related Ensembl:ENSG00000099994 MIM:615825; AllianceGenome:HGNC:30667 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 W5C5; BK65A6.2 Summary Involved in negative regulation of cell cycle G1/S phase transition and negative regulation of cell division. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in lung (RPKM 80.9), kidney (RPKM 36.6) and 4 other tissues See more Orthologs mouse all
SUSD2P2, Official Symbol SUSD2P2provided by HGNC Official Full Name sushi domain containing 2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:35197 See related Ensembl:ENSG00000278110 AllianceGenome:HGNC:35197 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information Note: There are two sushi domain containing 2 pseudogenes on chromosome 22. In October, 2008, the more centromeric one, sequenced in AC023490, was established to be SUSD2P2. [25 Oct 2008]
SUSD3, Official Symbol SUSD3provided by HGNC Official Full Name sushi domain containing 3provided by HGNC Primary source HGNC:HGNC:28391 See related Ensembl:ENSG00000157303 MIM:616429; AllianceGenome:HGNC:28391 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 Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 12.2), lymph node (RPKM 7.6) and 12 other tissues See more Orthologs mouse all
SUSD4, Official Symbol SUSD4provided by HGNC Official Full Name sushi domain containing 4provided by HGNC Primary source HGNC:HGNC:25470 See related Ensembl:ENSG00000143502 MIM:615827; AllianceGenome:HGNC:25470 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 PRO222 Summary Involved in negative regulation of complement activation, alternative pathway and negative regulation of complement activation, classical pathway. Predicted to be located in extracellular region. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in esophagus (RPKM 11.1), ovary (RPKM 10.5) and 13 other tissues See more Orthologs mouse all
SUSD5, Official Symbol SUSD5provided by HGNC Official Full Name sushi domain containing 5provided by HGNC Primary source HGNC:HGNC:29061 See related Ensembl:ENSG00000173705 MIM:619917; AllianceGenome:HGNC:29061 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 hyaluronic acid binding activity. Predicted to be involved in Notch signaling pathway. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 4.0), gall bladder (RPKM 3.2) and 19 other tissues See more Orthologs mouse all
SUSD6, Official Symbol SUSD6provided by HGNC Official Full Name sushi domain containing 6provided by HGNC Primary source HGNC:HGNC:19956 See related Ensembl:ENSG00000100647 MIM:616761; AllianceGenome:HGNC:19956 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 DRAGO; KIAA0247 Summary Involved in cell death and cellular response to DNA damage stimulus. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 26.4), appendix (RPKM 20.7) and 25 other tissues See more Orthologs mouse all
SUV39H1, Official Symbol SUV39H1provided by HGNC Official Full Name SUV39H1 histone lysine methyltransferaseprovided by HGNC Primary source HGNC:HGNC:11479 See related Ensembl:ENSG00000101945 MIM:300254; AllianceGenome:HGNC:11479 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 MG44; KMT1A; SUV39H; H3-K9-HMTase 1 Summary This gene encodes an evolutionarily-conserved protein containing an N-terminal chromodomain and a C-terminal SET domain. The encoded protein is a histone methyltransferase that trimethylates lysine 9 of histone H3, which results in transcriptional gene silencing. Loss of function of this gene disrupts heterochromatin formation and may cause chromosome instability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Expression Ubiquitous expression in bone marrow (RPKM 4.9), lymph node (RPKM 3.6) and 24 other tissues See more Orthologs mouse all
SUV39H2, Official Symbol SUV39H2provided by HGNC Official Full Name SUV39H2 histone lysine methyltransferaseprovided by HGNC Primary source HGNC:HGNC:17287 See related Ensembl:ENSG00000152455 MIM:606503; AllianceGenome:HGNC:17287 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 KMT1B Summary Enables S-adenosyl-L-methionine binding activity; histone methyltransferase activity (H3-K9 specific); and zinc ion binding activity. Involved in chromatin assembly or disassembly and chromatin remodeling. Acts upstream of or within cellular response to hypoxia and negative regulation of transcription by RNA polymerase II. Located in chromatin. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 10.3), lymph node (RPKM 2.1) and 23 other tissues See more Orthologs mouse all
SUZ12, Official Symbol SUZ12provided by HGNC Official Full Name SUZ12 polycomb repressive complex 2 subunitprovided by HGNC Primary source HGNC:HGNC:17101 See related Ensembl:ENSG00000178691 MIM:606245; AllianceGenome:HGNC:17101 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 CHET9; IMMAS; JJAZ1 Summary This zinc finger gene has been identified at the breakpoints of a recurrent chromosomal translocation reported in endometrial stromal sarcoma. Recombination of these breakpoints results in the fusion of this gene and JAZF1. The protein encoded by this gene contains a zinc finger domain in the C terminus of the coding region. [provided by RefSeq, Jul 2009] Expression Ubiquitous expression in testis (RPKM 13.7), lymph node (RPKM 12.3) and 25 other tissues See more Orthologs mouse all
SUZ12P1, Official Symbol SUZ12P1provided by HGNC Official Full Name SUZ12 pseudogene 1provided by HGNC Primary source HGNC:HGNC:32421 See related AllianceGenome:HGNC:32421 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SUZ12P Expression Ubiquitous expression in testis (RPKM 9.6), brain (RPKM 8.2) and 25 other tissues See more
SV2A, Official Symbol SV2Aprovided by HGNC Official Full Name synaptic vesicle glycoprotein 2Aprovided by HGNC Primary source HGNC:HGNC:20566 See related Ensembl:ENSG00000159164 MIM:185860; AllianceGenome:HGNC:20566 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 SV2; SLC22B1 Summary The protein encoded by this gene is one of three related synaptic vesicle proteins. The encoded protein may interact with synaptotagmin to enhance low frequency neurotransmission in quiescent neurons. [provided by RefSeq, Jun 2016] Expression Biased expression in brain (RPKM 68.4), adrenal (RPKM 5.1) and 1 other tissue See more Orthologs mouse all
SV2B, Official Symbol SV2Bprovided by HGNC Official Full Name synaptic vesicle glycoprotein 2Bprovided by HGNC Primary source HGNC:HGNC:16874 See related Ensembl:ENSG00000185518 MIM:185861; AllianceGenome:HGNC:16874 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 SLC22B2; HsT19680 Summary This gene encodes a member of the synaptic vesicle proteins 2 (SV2) family and major facilitator superfamily of proteins. This protein and other members of the family are localized to synaptic vesicles and may function in the regulation of vesicle trafficking and exocytosis. Studies in mice suggest that the encoded protein may act as a protein receptor for botulinum neurotoxin E in neurons, and that this protein may be important for the integrity of the glomerular filtration barrier. This gene shows reduced expression in areas of synaptic loss in the hippocampus of human temporal lobe epilepsy patients. [provided by RefSeq, Sep 2016] Expression Biased expression in brain (RPKM 7.7) and fat (RPKM 1.1) See more Orthologs mouse all