psui3905/ncbi_genes_summary huggingface dataset:
SRSF5, Official Symbol SRSF5provided by HGNC Official Full Name serine and arginine rich splicing factor 5provided by HGNC Primary source HGNC:HGNC:10787 See related Ensembl:ENSG00000100650 MIM:600914; AllianceGenome:HGNC:10787 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 HRS; SFRS5; SRP40 Summary The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in bone marrow (RPKM 175.0), skin (RPKM 153.9) and 25 other tissues See more Orthologs mouse all
SRSF6, Official Symbol SRSF6provided by HGNC Official Full Name serine and arginine rich splicing factor 6provided by HGNC Primary source HGNC:HGNC:10788 See related Ensembl:ENSG00000124193 MIM:601944; AllianceGenome:HGNC:10788 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 B52; SFRS6; SRP55; HEL-S-91 Summary The protein encoded by this gene is involved in mRNA splicing and may play a role in the determination of alternative splicing. The encoded nuclear protein belongs to the splicing factor SR family and has been shown to bind with and modulate another member of the family, SFRS12. Alternative splicing results in multiple transcript variants. In addition, two pseudogenes, one on chromosome 17 and the other on the X chromosome, have been found for this gene.[provided by RefSeq, Sep 2010] Expression Ubiquitous expression in bone marrow (RPKM 64.4), prostate (RPKM 51.8) and 25 other tissues See more Orthologs mouse all
SRSF7, Official Symbol SRSF7provided by HGNC Official Full Name serine and arginine rich splicing factor 7provided by HGNC Primary source HGNC:HGNC:10789 See related Ensembl:ENSG00000115875 MIM:600572; AllianceGenome:HGNC:10789 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 9G8; AAG3; SFRS7 Summary The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an N-terminal RNA recognition motif (RRM) for binding RNA and a C-terminal RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2018] Expression Ubiquitous expression in bone marrow (RPKM 57.8), lymph node (RPKM 43.5) and 25 other tissues See more Orthologs mouse all
SRSF8, Official Symbol SRSF8provided by HGNC Official Full Name serine and arginine rich splicing factor 8provided by HGNC Primary source HGNC:HGNC:16988 See related Ensembl:ENSG00000263465 MIM:603269; AllianceGenome:HGNC:16988 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 DSM-1; SRP46; SFRS2B Summary This gene encodes a member of a family of proteins containing a ribonucleoprotein (RNP)-type RNA binding motif and a carboxyl-terminal arginine-serine-rich (RS) domain. The encoded protein functions as a pre-mRNA splicing factor. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] Expression Ubiquitous expression in thyroid (RPKM 17.5), prostate (RPKM 14.1) and 25 other tissues See more Orthologs all
SRSF9, Official Symbol SRSF9provided by HGNC Official Full Name serine and arginine rich splicing factor 9provided by HGNC Primary source HGNC:HGNC:10791 See related Ensembl:ENSG00000111786 MIM:601943; AllianceGenome:HGNC:10791 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 SFRS9; SRp30c Summary The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two pseudogenes, one on chromosome 15 and the other on chromosome 21, have been found for this gene. [provided by RefSeq, Sep 2010] Expression Ubiquitous expression in testis (RPKM 59.8), lymph node (RPKM 55.2) and 25 other tissues See more Orthologs mouse all
SRXN1, Official Symbol SRXN1provided by HGNC Official Full Name sulfiredoxin 1provided by HGNC Primary source HGNC:HGNC:16132 See related Ensembl:ENSG00000271303 MIM:617583; AllianceGenome:HGNC:16132 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 SRX; Npn3; SRX1; C20orf139 Summary Enables oxidoreductase activity, acting on a sulfur group of donors. Involved in response to oxidative stress. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 21.6), esophagus (RPKM 17.3) and 25 other tissues See more Orthologs mouse all
SRY, Official Symbol SRYprovided by HGNC Official Full Name sex determining region Yprovided by HGNC Primary source HGNC:HGNC:11311 See related Ensembl:ENSG00000184895 MIM:480000; AllianceGenome:HGNC:11311 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 TDF; TDY; SRXX1; SRXY1 Summary This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. [provided by RefSeq, Jul 2008] Orthologs all
SS18, Official Symbol SS18provided by HGNC Official Full Name SS18 subunit of BAF chromatin remodeling complexprovided by HGNC Primary source HGNC:HGNC:11340 See related Ensembl:ENSG00000141380 MIM:600192; AllianceGenome:HGNC:11340 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 SYT; SSXT; SMARCL1 Summary Enables nuclear receptor coactivator activity. Involved in positive regulation of transcription by RNA polymerase II. Part of SWI/SNF complex. Implicated in synovial sarcoma. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 26.0), adrenal (RPKM 22.3) and 25 other tissues See more Orthologs mouse all
SS18L1, Official Symbol SS18L1provided by HGNC Official Full Name SS18L1 subunit of BAF chromatin remodeling complexprovided by HGNC Primary source HGNC:HGNC:15592 See related Ensembl:ENSG00000184402 MIM:606472; AllianceGenome:HGNC:15592 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 CREST; LP2261; SMARCL2 Summary This gene encodes a calcium-responsive transactivator which is an essential subunit of a neuron-specific chromatin-remodeling complex. The structure of this gene is similar to that of the SS18 gene. Mutations in this gene are involved in amyotrophic lateral sclerosis (ALS). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014] Expression Ubiquitous expression in skin (RPKM 3.8), brain (RPKM 3.7) and 25 other tissues See more Orthologs mouse all
SS18L2, Official Symbol SS18L2provided by HGNC Official Full Name SS18 like 2provided by HGNC Primary source HGNC:HGNC:15593 See related Ensembl:ENSG00000008324 MIM:606473; AllianceGenome:HGNC:15593 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 KIAA-iso Summary Synovial sarcomas occur most frequently in the extremities around large joints. More than 90% of cases have a recurrent and specific chromosomal translocation, t(X;18)(p11.2;q11.2), in which the 5-prime end of the SS18 gene (MIM 600192) is fused in-frame to the 3-prime end of the SSX1 (MIM 312820), SSX2 (MIM 300192), or SSX4 (MIM 300326) gene. The SS18L2 gene is homologous to SS18.[supplied by OMIM, Jul 2002] Expression Ubiquitous expression in lymph node (RPKM 8.2), prostate (RPKM 6.4) and 25 other tissues See more Orthologs mouse all
SS18L2P1, Official Symbol SS18L2P1provided by HGNC Official Full Name SS18 like 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:44965 See related AllianceGenome:HGNC:44965 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SS18L2P2, Official Symbol SS18L2P2provided by HGNC Official Full Name SS18 like 2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:44966 See related AllianceGenome:HGNC:44966 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SSB, Official Symbol SSBprovided by HGNC Official Full Name small RNA binding exonuclease protection factor Laprovided by HGNC Primary source HGNC:HGNC:11316 See related Ensembl:ENSG00000138385 MIM:109090; AllianceGenome:HGNC:11316 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 La; LARP3; La/SSB Summary The protein encoded by this gene is involved in diverse aspects of RNA metabolism, including binding and protecting poly(U) termini of nascent RNA polymerase III transcripts from exonuclease digestion, processing 5' and 3' ends of pre-tRNA precursors, acting as an RNA chaperone, and binding viral RNAs associated with hepatitis C virus. Autoantibodies reacting with this protein are found in the sera of patients with Sjogren syndrome and systemic lupus erythematosus. Alternative promoter usage results in two different transcript variants which encode the same protein. [provided by RefSeq, Jun 2014] Expression Ubiquitous expression in fat (RPKM 51.7), thyroid (RPKM 36.0) and 25 other tissues See more Orthologs mouse all
SSBL3P, Official Symbol SSBL3Pprovided by HGNC Official Full Name small RNA binding exonuclease protection factor La like 3, pseudogeneprovided by HGNC Primary source HGNC:HGNC:54984 See related Ensembl:ENSG00000257572 AllianceGenome:HGNC:54984 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SSBL5P, Official Symbol SSBL5Pprovided by HGNC Official Full Name small RNA binding exonuclease protection factor La like 5, pseudogeneprovided by HGNC Primary source HGNC:HGNC:54986 See related Ensembl:ENSG00000236048 AllianceGenome:HGNC:54986 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SSBP1, Official Symbol SSBP1provided by HGNC Official Full Name single stranded DNA binding protein 1provided by HGNC Primary source HGNC:HGNC:11317 See related Ensembl:ENSG00000106028 MIM:600439; AllianceGenome:HGNC:11317 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 SSBP; OPA13; mtSSB; Mt-SSB; SOSS-B1 Summary SSBP1 is a housekeeping gene involved in mitochondrial biogenesis (Tiranti et al., 1995 [PubMed 7789991]). It is also a subunit of a single-stranded DNA (ssDNA)-binding complex involved in the maintenance of genome stability (Huang et al., 2009) [PubMed 19683501].[supplied by OMIM, Feb 2010] Expression Ubiquitous expression in appendix (RPKM 9.8), adrenal (RPKM 9.6) and 25 other tissues See more Orthologs mouse all
SSBP2, Official Symbol SSBP2provided by HGNC Official Full Name single stranded DNA binding protein 2provided by HGNC Primary source HGNC:HGNC:15831 See related Ensembl:ENSG00000145687 MIM:607389; AllianceGenome:HGNC:15831 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 HSPC116; SOSS-B2 Summary This gene encodes a subunit of a protein complex that interacts with single-stranded DNA and is involved in the DNA damage response and maintenance of genome stability. The encoded protein may also play a role in telomere repair. A variant of this gene may be associated with survival in human glioblastoma patients. [provided by RefSeq, Sep 2016] Expression Ubiquitous expression in ovary (RPKM 6.2), brain (RPKM 5.5) and 25 other tissues See more Orthologs mouse all
SSBP3, Official Symbol SSBP3provided by HGNC Official Full Name single stranded DNA binding protein 3provided by HGNC Primary source HGNC:HGNC:15674 See related Ensembl:ENSG00000157216 MIM:607390; AllianceGenome:HGNC:15674 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 CSDP; SSDP; SSDP1 Summary Predicted to enable single-stranded DNA binding activity and transcription coactivator activity. Predicted to be involved in head development and positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within hematopoietic progenitor cell differentiation. Predicted to be part of protein-containing complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 35.7), brain (RPKM 22.6) and 24 other tissues See more Orthologs mouse all
SSBP3-AS1, Official Symbol SSBP3-AS1provided by HGNC Official Full Name SSBP3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:32328 See related Ensembl:ENSG00000198711 AllianceGenome:HGNC:32328 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 MST128; MSTP128; C1orf191 Summary Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
SSBP4, Official Symbol SSBP4provided by HGNC Official Full Name single stranded DNA binding protein 4provided by HGNC Primary source HGNC:HGNC:15676 See related Ensembl:ENSG00000130511 MIM:607391; AllianceGenome:HGNC:15676 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 single-stranded DNA binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to be integral component of membrane. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 6.5), fat (RPKM 4.8) and 25 other tissues See more Orthologs mouse all
SSC4D, Official Symbol SSC4Dprovided by HGNC Official Full Name scavenger receptor cysteine rich family member with 4 domainsprovided by HGNC Primary source HGNC:HGNC:14461 See related Ensembl:ENSG00000146700 MIM:607639; AllianceGenome:HGNC:14461 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 SRCRB4D; S4D-SRCRB; SRCRB-S4D Summary The scavenger receptor cysteine-rich (SRCR) superfamily is an ancient and highly conserved group of cell surface and/or secreted proteins, some of which are involved in the development of the immune system and the regulation of both innate and adaptive immune responses. Group B SRCR domains usually contain 8 regularly spaced cysteines that give rise to a well-defined intradomain disulfide-bond pattern.[supplied by OMIM, Apr 2004] Expression Broad expression in kidney (RPKM 1.3), thyroid (RPKM 1.0) and 21 other tissues See more Orthologs mouse all
SSC5D, Official Symbol SSC5Dprovided by HGNC Official Full Name scavenger receptor cysteine rich family member with 5 domainsprovided by HGNC Primary source HGNC:HGNC:26641 See related Ensembl:ENSG00000179954 MIM:618194; AllianceGenome:HGNC:26641 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 S5D-SRCRB Summary Predicted to enable fibronectin binding activity; laminin binding activity; and scavenger receptor activity. Predicted to be involved in defense response; detection of bacterial lipoprotein; and negative regulation of interleukin-8 production. Predicted to act upstream of or within regulation of interleukin-8 production. Predicted to be located in collagen-containing extracellular matrix. Predicted to be active in extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in gall bladder (RPKM 7.3), endometrium (RPKM 6.2) and 21 other tissues See more Orthologs mouse all
SSH1, Official Symbol SSH1provided by HGNC Official Full Name slingshot protein phosphatase 1provided by HGNC Primary source HGNC:HGNC:30579 See related Ensembl:ENSG00000084112 MIM:606778; AllianceGenome:HGNC:30579 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 SSH1L Summary The protein encoded by this gene belongs to the slingshot homolog (SSH) family of phosphatases, which regulate actin filament dynamics. The SSH proteins dephosphorylate and activate the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Cofilin is inactivated by kinases such as LIM domain kinase-1 (LIMK1), which may also be dephosphorylated and inactivated by SSH proteins. The SSH family thus appears to play a role in actin dynamics by reactivating cofilin proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in gall bladder (RPKM 6.2), endometrium (RPKM 5.8) and 25 other tissues See more Orthologs mouse all
SSH2, Official Symbol SSH2provided by HGNC Official Full Name slingshot protein phosphatase 2provided by HGNC Primary source HGNC:HGNC:30580 See related Ensembl:ENSG00000141298 MIM:606779; AllianceGenome:HGNC:30580 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 SSH-2; SSH-2L Summary This gene encodes a protein tyrosine phosphatase that plays a key role in the regulation of actin filaments. The encoded protein dephosphorylates and activates cofilin, which promotes actin filament depolymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Expression Broad expression in lymph node (RPKM 6.2), appendix (RPKM 6.0) and 24 other tissues See more Orthologs mouse all
SSH3, Official Symbol SSH3provided by HGNC Official Full Name slingshot protein phosphatase 3provided by HGNC Primary source HGNC:HGNC:30581 See related Ensembl:ENSG00000172830 MIM:606780; AllianceGenome:HGNC:30581 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 SSH3L Summary The ADF (actin-depolymerizing factor)/cofilin family (see MIM 601442) is composed of stimulus-responsive mediators of actin dynamics. ADF/cofilin proteins are inactivated by kinases such as LIM domain kinase-1 (LIMK1; MIM 601329). The SSH family appears to play a role in actin dynamics by reactivating ADF/cofilin proteins in vivo (Niwa et al., 2002 [PubMed 11832213]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in urinary bladder (RPKM 17.7), prostate (RPKM 14.2) and 25 other tissues See more Orthologs mouse all
SSMEM1, Official Symbol SSMEM1provided by HGNC Official Full Name serine rich single-pass membrane protein 1provided by HGNC Primary source HGNC:HGNC:29580 See related Ensembl:ENSG00000165120 AllianceGenome:HGNC:29580 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 C7orf45 Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 13.0) See more Orthologs mouse all
SSNA1, Official Symbol SSNA1provided by HGNC Official Full Name SS nuclear autoantigen 1provided by HGNC Primary source HGNC:HGNC:11321 See related Ensembl:ENSG00000176101 MIM:610882; AllianceGenome:HGNC:11321 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 N14; NA14; NA-14 Summary Enables identical protein binding activity. Predicted to act upstream of or within ciliary receptor clustering involved in smoothened signaling pathway and intraciliary transport. Located in centrosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 42.7), kidney (RPKM 20.7) and 25 other tissues See more Orthologs mouse all
SSPN, Official Symbol SSPNprovided by HGNC Official Full Name sarcospanprovided by HGNC Primary source HGNC:HGNC:11322 See related Ensembl:ENSG00000123096 MIM:601599; AllianceGenome:HGNC:11322 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 KRAG; NSPN; SPN1; SPN2; DAGA5 Summary This gene encodes a member of the dystrophin-glycoprotein complex (DGC). The DGC spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Two alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008] Expression Ubiquitous expression in heart (RPKM 16.0), ovary (RPKM 15.7) and 22 other tissues See more Orthologs mouse all
SSPOP, Official Symbol SSPOPprovided by HGNC Official Full Name SCO-spondin, pseudogeneprovided by HGNC Primary source HGNC:HGNC:21998 See related Ensembl:ENSG00000197558 MIM:617356; AllianceGenome:HGNC:21998 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 SSPO Summary Predicted to enable peptidase inhibitor activity. Predicted to be involved in several processes, including cell adhesion; negative regulation of catalytic activity; and regulation of peptidase activity. Predicted to be located in cytoplasm. Predicted to be active in extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Annotation category: suggests misassembly Expression Low expression observed in reference dataset See more Orthologs all
SSR1, Official Symbol SSR1provided by HGNC Official Full Name signal sequence receptor subunit 1provided by HGNC Primary source HGNC:HGNC:11323 See related Ensembl:ENSG00000124783 MIM:600868; AllianceGenome:HGNC:11323 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 TRAPA Summary The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein encoded by this gene and a 22-kD glycoprotein. This gene generates several mRNA species as a result of complex alternative polyadenylation. This gene is unusual in that it utilizes arrays of polyA signal sequences that are mostly non-canonical. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014] Expression Ubiquitous expression in thyroid (RPKM 19.2), appendix (RPKM 16.5) and 25 other tissues See more Orthologs mouse all
SSR1P1, Official Symbol SSR1P1provided by HGNC Official Full Name signal sequence receptor subunit 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39273 See related Ensembl:ENSG00000220598 AllianceGenome:HGNC:39273 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SSR1P2, Official Symbol SSR1P2provided by HGNC Official Full Name signal sequence receptor subunit 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:39274 See related Ensembl:ENSG00000226665 AllianceGenome:HGNC:39274 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SSR2, Official Symbol SSR2provided by HGNC Official Full Name signal sequence receptor subunit 2provided by HGNC Primary source HGNC:HGNC:11324 See related Ensembl:ENSG00000163479 MIM:600867; AllianceGenome:HGNC:11324 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 TLAP; HSD25; TRAPB; TRAP-BETA Summary The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein (alpha-SSR or SSR1) and a 22-kD glycoprotein (beta-SSR or SSR2). The human beta-signal sequence receptor gene (SSR2) maps to chromosome bands 1q21-q23. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 141.0), adrenal (RPKM 105.9) and 25 other tissues See more Orthologs mouse all
SSR3, Official Symbol SSR3provided by HGNC Official Full Name signal sequence receptor subunit 3provided by HGNC Primary source HGNC:HGNC:11325 See related Ensembl:ENSG00000114850 MIM:606213; AllianceGenome:HGNC:11325 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 TRAPG Summary The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR is comprised of four membrane proteins/subunits: alpha, beta, gamma, and delta. The first two are glycosylated subunits and the latter two are non-glycosylated subunits. This gene encodes the gamma subunit, which is predicted to span the membrane four times. [provided by RefSeq, Aug 2010] Expression Ubiquitous expression in thyroid (RPKM 48.0), endometrium (RPKM 38.4) and 25 other tissues See more Orthologs mouse all
SSR4, Official Symbol SSR4provided by HGNC Official Full Name signal sequence receptor subunit 4provided by HGNC Primary source HGNC:HGNC:11326 See related Ensembl:ENSG00000180879 MIM:300090; AllianceGenome:HGNC:11326 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 CDG1Y; TRAPD Summary This gene encodes the delta subunit of the translocon-associated protein complex which is involved in translocating proteins across the endoplasmic reticulum membrane. The encoded protein is located in the Xq28 region and is arranged in a compact head-to-head manner with the isocitrate dehydrogenase 3 (NAD+) gamma gene and both genes are driven by a CpG-embedded bidirectional promoter. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2011] Expression Ubiquitous expression in pancreas (RPKM 97.6), stomach (RPKM 67.4) and 25 other tissues See more Orthologs mouse all
SSR4P1, Official Symbol SSR4P1provided by HGNC Official Full Name signal sequence receptor subunit 4 pseudogene 1provided by HGNC Primary source HGNC:HGNC:23131 See related Ensembl:ENSG00000235374 AllianceGenome:HGNC:23131 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 PRED57; PRED90; C21orf122
SSRP1, Official Symbol SSRP1provided by HGNC Official Full Name structure specific recognition protein 1provided by HGNC Primary source HGNC:HGNC:11327 See related Ensembl:ENSG00000149136 MIM:604328; AllianceGenome:HGNC:11327 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 FACT; T160; FACT80 Summary The protein encoded by this gene is a subunit of a heterodimer that, along with SUPT16H, forms chromatin transcriptional elongation factor FACT. FACT interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT and cisplatin-damaged DNA may be crucial to the anticancer mechanism of cisplatin. This encoded protein contains a high mobility group box which most likely constitutes the structure recognition element for cisplatin-modified DNA. This protein also functions as a co-activator of the transcriptional activator p63. An alternatively spliced transcript variant of this gene has been described, but its full-length nature is not known. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 33.5), ovary (RPKM 32.7) and 25 other tissues See more Orthologs mouse all
SST, Official Symbol SSTprovided by HGNC Official Full Name somatostatinprovided by HGNC Primary source HGNC:HGNC:11329 See related Ensembl:ENSG00000157005 MIM:182450; AllianceGenome:HGNC:11329 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 SMST; SST1 Summary The hormone somatostatin has active 14 aa and 28 aa forms that are produced by alternate cleavage of the single preproprotein encoded by this gene. Somatostatin is expressed throughout the body and inhibits the release of numerous secondary hormones by binding to high-affinity G-protein-coupled somatostatin receptors. This hormone is an important regulator of the endocrine system through its interactions with pituitary growth hormone, thyroid stimulating hormone, and most hormones of the gastrointestinal tract. Somatostatin also affects rates of neurotransmission in the central nervous system and proliferation of both normal and tumorigenic cells. [provided by RefSeq, Jul 2008] Expression Biased expression in stomach (RPKM 141.6), duodenum (RPKM 136.3) and 5 other tissues See more Orthologs mouse all
SSTR1, Official Symbol SSTR1provided by HGNC Official Full Name somatostatin receptor 1provided by HGNC Primary source HGNC:HGNC:11330 See related Ensembl:ENSG00000139874 MIM:182451; AllianceGenome:HGNC:11330 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 SS1R; SST1; SS1-R; SRIF-2; SS-1-R Summary Somatostatins are peptide hormones that regulate diverse cellular functions such as neurotransmission, cell proliferation, and endocrine signaling as well as inhibiting the release of many hormones and other secretory proteins. Somatostatin has two active forms of 14 and 28 amino acids. The biological effects of somatostatins are mediated by a family of G-protein coupled somatostatin receptors that are expressed in a tissue-specific manner. The protein encoded by this gene is a member of the superfamily of somatostatin receptors having seven transmembrane segments. Somatostatin receptors form homodimers and heterodimers with other members of the superfamily as well as with other G-protein coupled receptors and receptor tyrosine kinases. This somatostatin receptor has greater affinity for somatostatin-14 than -28. [provided by RefSeq, Jul 2012] Expression Biased expression in stomach (RPKM 11.3), duodenum (RPKM 7.3) and 9 other tissues See more Orthologs mouse all
SSTR2, Official Symbol SSTR2provided by HGNC Official Full Name somatostatin receptor 2provided by HGNC Primary source HGNC:HGNC:11331 See related Ensembl:ENSG00000180616 MIM:182452; AllianceGenome:HGNC:11331 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 SST2 Summary Somatostatin acts at many sites to inhibit the release of many hormones and other secretory proteins. The biologic effects of somatostatin are probably mediated by a family of G protein-coupled receptors that are expressed in a tissue-specific manner. SSTR2 is a member of the superfamily of receptors having seven transmembrane segments and is expressed in highest levels in cerebrum and kidney. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 12.7), adrenal (RPKM 3.5) and 10 other tissues See more Orthologs mouse all
SSTR3, Official Symbol SSTR3provided by HGNC Official Full Name somatostatin receptor 3provided by HGNC Primary source HGNC:HGNC:11332 See related Ensembl:ENSG00000278195 MIM:182453; AllianceGenome:HGNC:11332 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 SS3R; SST3; SS3-R; SS-3-R; SSR-28 Summary This gene encodes a member of the somatostatin receptor protein family. Somatostatins are peptide hormones that regulate diverse cellular functions such as neurotransmission, cell proliferation, and endocrine signaling as well as inhibiting the release of many hormones and other secretory proteins. Somatostatin has two active forms of 14 and 28 amino acids. The biological effects of somatostatins are mediated by a family of G-protein coupled somatostatin receptors that are expressed in a tissue-specific manner. Somatostatin receptors form homodimers and heterodimers with other members of the superfamily as well as with other G-protein coupled receptors and receptor tyrosine kinases. This protein is functionally coupled to adenylyl cyclase. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Biased expression in testis (RPKM 3.5), brain (RPKM 1.1) and 8 other tissues See more Orthologs mouse all
SSTR4, Official Symbol SSTR4provided by HGNC Official Full Name somatostatin receptor 4provided by HGNC Primary source HGNC:HGNC:11333 See related Ensembl:ENSG00000132671 MIM:182454; AllianceGenome:HGNC:11333 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 SS4R; SST4; SS4-R; SS-4-R Summary Somatostatin acts at many sites to inhibit the release of many hormones and other secretory proteins. The biologic effects of somatostatin are probably mediated by a family of G protein-coupled receptors that are expressed in a tissue-specific manner. SSTR4 is a member of the superfamily of receptors having seven transmembrane segments and is expressed in highest levels in fetal and adult brain and lung. [provided by RefSeq, Jul 2008] Orthologs mouse all
SSTR5, Official Symbol SSTR5provided by HGNC Official Full Name somatostatin receptor 5provided by HGNC Primary source HGNC:HGNC:11334 See related Ensembl:ENSG00000162009 MIM:182455; AllianceGenome:HGNC:11334 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 SST5; SS-5-R Summary Somatostatin and its related peptide cortistatin exert multiple biological actions on normal and tumoral tissue targets by interacting with somatostatin receptors (SSTRs). The protein encoded by this gene is one of the SSTRs, which is a multi-pass membrane protein and belongs to the G-protein coupled receptor 1 family. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase, and different regions of this receptor molecule are required for the activation of different signaling pathways. A mutation in this gene results in somatostatin analog resistance. Alternatively spliced transcript variants have been identified in this gene.[provided by RefSeq, Feb 2010] Expression Low expression observed in reference dataset See more Orthologs mouse all
SSTR5-AS1, Official Symbol SSTR5-AS1provided by HGNC Official Full Name SSTR5 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:26502 See related Ensembl:ENSG00000261713 AllianceGenome:HGNC:26502 Gene type ncRNA RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in adrenal (RPKM 2.9), stomach (RPKM 1.1) and 8 other tissues See more
SSU72, Official Symbol SSU72provided by HGNC Official Full Name SSU72 homolog, RNA polymerase II CTD phosphataseprovided by HGNC Primary source HGNC:HGNC:25016 See related Ensembl:ENSG00000160075 MIM:617680; AllianceGenome:HGNC:25016 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 HSPC182; PNAS-120 Summary Enables RNA polymerase II CTD heptapeptide repeat phosphatase activity. Involved in dephosphorylation of RNA polymerase II C-terminal domain and mRNA polyadenylation. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 50.5), fat (RPKM 49.2) and 25 other tissues See more Orthologs mouse all
SSU72P1, Official Symbol SSU72P1provided by HGNC Official Full Name SSU72 pseudogene 1provided by HGNC Primary source HGNC:HGNC:43620 See related Ensembl:ENSG00000226547 AllianceGenome:HGNC:43620 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SSU72P6, Official Symbol SSU72P6provided by HGNC Official Full Name SSU72 pseudogene 6provided by HGNC Primary source HGNC:HGNC:43625 See related Ensembl:ENSG00000236175 AllianceGenome:HGNC:43625 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SSUH2, Official Symbol SSUH2provided by HGNC Official Full Name ssu-2 homologprovided by HGNC Primary source HGNC:HGNC:24809 See related Ensembl:ENSG00000125046 MIM:617479; AllianceGenome:HGNC:24809 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 SSU-2; fls485; C3orf32 Summary Involved in odontogenesis. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 1.1), small intestine (RPKM 0.7) and 8 other tissues See more Orthologs mouse all
SSX1, Official Symbol SSX1provided by HGNC Official Full Name SSX family member 1provided by HGNC Primary source HGNC:HGNC:11335 See related Ensembl:ENSG00000126752 MIM:312820; AllianceGenome:HGNC:11335 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 SSRC; CT5.1; SPGFX5 Summary The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. This gene, and also the SSX2 and SSX4 family members, have been involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. The encoded hybrid proteins are likely responsible for transforming activity. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Jul 2013] Expression Restricted expression toward testis (RPKM 3.9) See more Orthologs all
SSX2, Official Symbol SSX2provided by HGNC Official Full Name SSX family member 2provided by HGNC Primary source HGNC:HGNC:11336 See related Ensembl:ENSG00000241476 MIM:300192; AllianceGenome:HGNC:11336 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 SSX; HD21; CT5.2; CT5.2A; HOM-MEL-40 Summary The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. This gene, and also the SSX1 and SSX4 family members, have been involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. The encoded hybrid proteins are likely responsible for transforming activity. Alternative splicing of this gene results in multiple transcript variants. This gene also has an identical duplicate, GeneID: 727837, located about 45 kb downstream in the opposite orientation on chromosome X. [provided by RefSeq, Jul 2013] Expression Restricted expression toward testis (RPKM 18.4) See more