psui3905/ncbi_genes_summary huggingface dataset:
SPDEF, Official Symbol SPDEFprovided by HGNC Official Full Name SAM pointed domain containing ETS transcription factorprovided by HGNC Primary source HGNC:HGNC:17257 See related Ensembl:ENSG00000124664 MIM:608144; AllianceGenome:HGNC:17257 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 PDEF; bA375E1.3 Summary The protein encoded by this gene belongs to the ETS family of transcription factors. It is highly expressed in the prostate epithelial cells, and functions as an androgen-independent transactivator of prostate-specific antigen (PSA) promoter. Higher expression of this protein has also been reported in brain, breast, lung and ovarian tumors, compared to the corresponding normal tissues, and it shows better tumor-association than other cancer-associated molecules, making it a more suitable target for developing specific cancer therapies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] Expression Biased expression in prostate (RPKM 50.1), salivary gland (RPKM 10.8) and 5 other tissues See more Orthologs mouse all
SPDL1, Official Symbol SPDL1provided by HGNC Official Full Name spindle apparatus coiled-coil protein 1provided by HGNC Primary source HGNC:HGNC:26010 See related Ensembl:ENSG00000040275 MIM:616401; AllianceGenome:HGNC:26010 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 CCDC99 Summary This gene encodes a coiled-coil domain-containing protein that functions in mitotic spindle formation and chromosome segregation. The encoded protein plays a role in coordinating microtubule attachment by promoting recruitment of dynein proteins, and in mitotic checkpoint signaling. [provided by RefSeq, Jul 2016] Expression Broad expression in testis (RPKM 14.1), lymph node (RPKM 4.5) and 21 other tissues See more Orthologs mouse all
SPDYA, Official Symbol SPDYAprovided by HGNC Official Full Name speedy/RINGO cell cycle regulator family member Aprovided by HGNC Primary source HGNC:HGNC:30613 See related Ensembl:ENSG00000163806 MIM:614029; AllianceGenome:HGNC:30613 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 SPY1; SPDY1; RINGO3; RINGOA Summary Enables protein kinase activator activity and protein kinase binding activity. Involved in several processes, including G1/S transition of mitotic cell cycle; positive regulation of cell population proliferation; and positive regulation of protein kinase activity. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 22.5), duodenum (RPKM 1.7) and 10 other tissues See more Orthologs mouse all
SPDYC, Official Symbol SPDYCprovided by HGNC Official Full Name speedy/RINGO cell cycle regulator family member Cprovided by HGNC Primary source HGNC:HGNC:32681 See related Ensembl:ENSG00000204710 MIM:614030; AllianceGenome:HGNC:32681 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 RINGOC; Ringo2; SPDYE4 Summary Enables protein kinase binding activity. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs all
SPDYE1, Official Symbol SPDYE1provided by HGNC Official Full Name speedy/RINGO cell cycle regulator family member E1provided by HGNC Primary source HGNC:HGNC:16408 See related Ensembl:ENSG00000136206 MIM:617623; AllianceGenome:HGNC:16408 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 SPDYE; Ringo1; WBSCR19; SPDYB2L2 Summary This gene is located at chromosome 7p13 which is close to the Williams Beuren syndrome chromosome region 7q11.23. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 3.3), skin (RPKM 0.9) and 21 other tissues See more Orthologs all
SPDYE11, Official Symbol SPDYE11provided by HGNC Official Full Name speedy/RINGO cell cycle regulator family member E11provided by HGNC Primary source HGNC:HGNC:51507 See related Ensembl:ENSG00000275976 AllianceGenome:HGNC:51507 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Enables acetylcholine receptor regulator activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 9.9), skin (RPKM 2.8) and 23 other tissues See more
SPDYE13, Official Symbol SPDYE13provided by HGNC Official Full Name speedy/RINGO cell cycle regulator family member E13provided by HGNC Primary source HGNC:HGNC:51509 See related Ensembl:ENSG00000286038 AllianceGenome:HGNC:51509 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 SPDYE13P
SPDYE14, Official Symbol SPDYE14provided by HGNC Official Full Name speedy/RINGO cell cycle regulator family member E14provided by HGNC Primary source HGNC:HGNC:51510 See related Ensembl:ENSG00000286137 AllianceGenome:HGNC:51510 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 SPDYE13; SPDYE14P
SPDYE15, Official Symbol SPDYE15provided by HGNC Official Full Name speedy/RINGO cell cycle regulator family member E15provided by HGNC Primary source HGNC:HGNC:51511 See related Ensembl:ENSG00000286014 AllianceGenome:HGNC:51511 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 SPDYE15P
SPDYE16, Official Symbol SPDYE16provided by HGNC Official Full Name speedy/RINGO cell cycle regulator family member E16provided by HGNC Primary source HGNC:HGNC:51512 See related Ensembl:ENSG00000185040 AllianceGenome:HGNC:51512 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 protein kinase binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 3.6), skin (RPKM 1.1) and 24 other tissues See more
SPDYE17, Official Symbol SPDYE17provided by HGNC Official Full Name speedy/RINGO cell cycle regulator family member E17provided by HGNC Primary source HGNC:HGNC:51513 See related Ensembl:ENSG00000186645 AllianceGenome:HGNC:51513 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 Expression Broad expression in testis (RPKM 9.5), skin (RPKM 2.8) and 23 other tissues See more
SPDYE18, Official Symbol SPDYE18provided by HGNC Official Full Name speedy/RINGO cell cycle regulator family member E18provided by HGNC Primary source HGNC:HGNC:51514 See related Ensembl:ENSG00000205482 AllianceGenome:HGNC:51514 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 Expression Broad expression in testis (RPKM 7.2), thyroid (RPKM 1.9) and 23 other tissues See more
SPDYE2, Official Symbol SPDYE2provided by HGNC Official Full Name speedy/RINGO cell cycle regulator family member E2provided by HGNC Primary source HGNC:HGNC:33841 See related Ensembl:ENSG00000205238 MIM:617624; AllianceGenome:HGNC:33841 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 SPDYB2L1; SPDYB2-L1 Summary Predicted to enable protein kinase binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 4.7), spleen (RPKM 2.6) and 24 other tissues See more
SPDYE21, Official Symbol SPDYE21provided by HGNC Official Full Name speedy/RINGO cell cycle regulator family member E21provided by HGNC Primary source HGNC:HGNC:51517 See related Ensembl:ENSG00000230358 AllianceGenome:HGNC:51517 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 SPDYE21P Orthologs all
SPDYE2B, Official Symbol SPDYE2Bprovided by HGNC Official Full Name speedy/RINGO cell cycle regulator family member E2Bprovided by HGNC Primary source HGNC:HGNC:48334 See related Ensembl:ENSG00000173678 AllianceGenome:HGNC:48334 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 SPDYE2L Summary Predicted to enable protein kinase binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 4.5), spleen (RPKM 2.9) and 25 other tissues See more
SPDYE3, Official Symbol SPDYE3provided by HGNC Official Full Name speedy/RINGO cell cycle regulator family member E3provided by HGNC Primary source HGNC:HGNC:35462 See related Ensembl:ENSG00000214300 MIM:617625; AllianceGenome:HGNC:35462 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 SPDYB2 Summary Predicted to enable protein kinase binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 3.8), lymph node (RPKM 1.4) and 23 other tissues See more Orthologs all
SPDYE4, Official Symbol SPDYE4provided by HGNC Official Full Name speedy/RINGO cell cycle regulator family member E4provided by HGNC Primary source HGNC:HGNC:35463 See related Ensembl:ENSG00000183318 MIM:617628; AllianceGenome:HGNC:35463 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 protein kinase binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 1.5) See more Orthologs all
SPDYE5, Official Symbol SPDYE5provided by HGNC Official Full Name speedy/RINGO cell cycle regulator family member E5provided by HGNC Primary source HGNC:HGNC:35464 See related Ensembl:ENSG00000170092 AllianceGenome:HGNC:35464 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 protein kinase binding activity. Predicted to be involved in positive regulation of cyclin-dependent protein serine/threonine kinase activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 3.6), skin (RPKM 1.2) and 23 other tissues See more
SPDYE6, Official Symbol SPDYE6provided by HGNC Official Full Name speedy/RINGO cell cycle regulator family member E6provided by HGNC Primary source HGNC:HGNC:35465 See related Ensembl:ENSG00000260097 AllianceGenome:HGNC:35465 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a cell cycle regulatory protein which plays an important role in cell cycle progression by binding and activating cyclin-dependent kinases. The encoded protein belongs to a family of cyclin-dependent kinase regulators that contain a speedy box domain which is required for cyclin-dependent kinase activation. [provided by RefSeq, Jul 2017] Expression Broad expression in testis (RPKM 6.2), spleen (RPKM 2.1) and 22 other tissues See more Orthologs all
SPDYE8, Official Symbol SPDYE8provided by HGNC Official Full Name speedy/RINGO cell cycle regulator family member E8provided by HGNC Primary source HGNC:HGNC:33771 See related Ensembl:ENSG00000273520 AllianceGenome:HGNC:33771 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 SPDYE9; SPDYE8P Expression Broad expression in testis (RPKM 7.7), skin (RPKM 2.0) and 23 other tissues See more
SPDYE9, Official Symbol SPDYE9provided by HGNC Official Full Name speedy/RINGO cell cycle regulator family member E9provided by HGNC Primary source HGNC:HGNC:45034 See related Ensembl:ENSG00000262461 AllianceGenome:HGNC:45034 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 SPDYE9P
SPECC1, Official Symbol SPECC1provided by HGNC Official Full Name sperm antigen with calponin homology and coiled-coil domains 1provided by HGNC Primary source HGNC:HGNC:30615 See related Ensembl:ENSG00000128487 MIM:608793; AllianceGenome:HGNC:30615 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 NSP; NSP5; CYTSB; HCMOGT1; HCMOGT-1 Summary The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly expressed in testis and some cancer cell lines. A chromosomal translocation involving this gene and platelet-derived growth factor receptor, beta gene (PDGFRB) may be a cause of juvenile myelomonocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] Expression Broad expression in brain (RPKM 6.4), testis (RPKM 6.0) and 23 other tissues See more Orthologs mouse all
SPECC1L, Official Symbol SPECC1Lprovided by HGNC Official Full Name sperm antigen with calponin homology and coiled-coil domains 1 likeprovided by HGNC Primary source HGNC:HGNC:29022 See related Ensembl:ENSG00000100014 MIM:614140; AllianceGenome:HGNC:29022 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 TBHS; CYTSA; GBBB2; TBHS1; OBLFC1 Summary This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013] Expression Ubiquitous expression in testis (RPKM 21.3), thyroid (RPKM 13.1) and 25 other tissues See more Orthologs mouse all
SPECC1L-ADORA2A, Official Symbol SPECC1L-ADORA2Aprovided by HGNC Official Full Name SPECC1L-ADORA2A readthrough (NMD candidate)provided by HGNC Primary source HGNC:HGNC:49185 See related Ensembl:ENSG00000258555 AllianceGenome:HGNC:49185 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This locus represents naturally occurring readthrough transcription between the neighboring SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and ADORA2A (adenosine A2a receptor) genes on chromosome 22. The readthrough transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is unlikely to produce a protein product. [provided by RefSeq, Jun 2013] Expression Ubiquitous expression in testis (RPKM 16.3), thyroid (RPKM 10.6) and 25 other tissues See more
SPECC1P2, Official Symbol SPECC1P2provided by HGNC Official Full Name SPECC1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:53868 See related Ensembl:ENSG00000244456 AllianceGenome:HGNC:53868 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SPEF1, Official Symbol SPEF1provided by HGNC Official Full Name sperm flagellar 1provided by HGNC Primary source HGNC:HGNC:15874 See related Ensembl:ENSG00000101222 MIM:610674; AllianceGenome:HGNC:15874 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 CLAMP; SPEF1A; C20orf28 Summary Enables actin binding activity. Involved in filopodium assembly; lamellipodium assembly; and negative regulation of cell death. Located in several cellular components, including basolateral plasma membrane; lamellipodium; and microvillus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 4.6), brain (RPKM 1.1) and 4 other tissues See more Orthologs mouse all
SPEF2, Official Symbol SPEF2provided by HGNC Official Full Name sperm flagellar 2provided by HGNC Primary source HGNC:HGNC:26293 See related Ensembl:ENSG00000152582 MIM:610172; AllianceGenome:HGNC:26293 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 KPL2; CT122; SPGF43 Summary Involved in sperm axoneme assembly. Located in sperm flagellum. Implicated in spermatogenic failure 43. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in endometrium (RPKM 2.4), testis (RPKM 2.1) and 24 other tissues See more Orthologs mouse all
SPEG, Official Symbol SPEGprovided by HGNC Official Full Name striated muscle enriched protein kinaseprovided by HGNC Primary source HGNC:HGNC:16901 See related Ensembl:ENSG00000072195 MIM:615950; AllianceGenome:HGNC:16901 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 BPEG; CNM5; APEG1; MYLK6; APEG-1; SPEGbeta; SPEGalpha Summary This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016] Expression Broad expression in endometrium (RPKM 4.8), prostate (RPKM 4.5) and 17 other tissues See more Orthologs mouse all
SPEGNB, Official Symbol SPEGNBprovided by HGNC Official Full Name SPEG neighborprovided by HGNC Primary source HGNC:HGNC:51251 See related Ensembl:ENSG00000286095 AllianceGenome:HGNC:51251 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 Annotation information Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene. Expression Low expression observed in reference dataset See more Orthologs all
SPEM1, Official Symbol SPEM1provided by HGNC Official Full Name spermatid maturation 1provided by HGNC Primary source HGNC:HGNC:32429 See related Ensembl:ENSG00000181323 MIM:615116; AllianceGenome:HGNC:32429 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 C17orf83 Summary Predicted to be involved in flagellated sperm motility and sperm individualization. Predicted to act upstream of or within spermatogenesis. Predicted to be integral component of membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 24.6) See more Orthologs mouse all
SPEM2, Official Symbol SPEM2provided by HGNC Official Full Name SPEM family member 2provided by HGNC Primary source HGNC:HGNC:27315 See related Ensembl:ENSG00000184560 AllianceGenome:HGNC:27315 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 C17orf74 Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 18.5) See more Orthologs mouse all
SPEM3, Official Symbol SPEM3provided by HGNC Official Full Name SPEM family member 3provided by HGNC Primary source HGNC:HGNC:53651 See related Ensembl:ENSG00000283439 AllianceGenome:HGNC:53651 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 be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 23.1) See more Orthologs mouse all
SPEN, Official Symbol SPENprovided by HGNC Official Full Name spen family transcriptional repressorprovided by HGNC Primary source HGNC:HGNC:17575 See related Ensembl:ENSG00000065526 MIM:613484; AllianceGenome:HGNC:17575 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 MINT; SHARP; RATARS; RBM15C; HIAA0929 Summary This gene encodes a hormone inducible transcriptional repressor. Repression of transcription by this gene product can occur through interactions with other repressors, by the recruitment of proteins involved in histone deacetylation, or through sequestration of transcriptional activators. The product of this gene contains a carboxy-terminal domain that permits binding to other corepressor proteins. This domain also permits interaction with members of the NuRD complex, a nucleosome remodeling protein complex that contains deacetylase activity. In addition, this repressor contains several RNA recognition motifs that confer binding to a steroid receptor RNA coactivator; this binding can modulate the activity of both liganded and nonliganded steroid receptors. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 13.5), bone marrow (RPKM 9.9) and 25 other tissues See more Orthologs mouse all
SPESP1, Official Symbol SPESP1provided by HGNC Official Full Name sperm equatorial segment protein 1provided by HGNC Primary source HGNC:HGNC:15570 See related Ensembl:ENSG00000258484 MIM:609399; AllianceGenome:HGNC:15570 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 ESP; SP-ESP Summary The encoded protein is a human alloantigen involved in sperm-egg binding and fusion. [provided by RefSeq, Apr 2010] Expression Biased expression in testis (RPKM 44.1), placenta (RPKM 5.7) and 4 other tissues See more Orthologs mouse all
SPG11, Official Symbol SPG11provided by HGNC Official Full Name SPG11 vesicle trafficking associated, spatacsinprovided by HGNC Primary source HGNC:HGNC:11226 See related Ensembl:ENSG00000104133 MIM:610844; AllianceGenome:HGNC:11226 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 ALS5; CMT2X; KIAA1840 Summary The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] Expression Ubiquitous expression in thyroid (RPKM 18.4), testis (RPKM 13.2) and 25 other tissues See more Orthologs mouse all
SPG21, Official Symbol SPG21provided by HGNC Official Full Name SPG21 abhydrolase domain containing, maspardinprovided by HGNC Primary source HGNC:HGNC:20373 See related Ensembl:ENSG00000090487 MIM:608181; AllianceGenome:HGNC:20373 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 MAST; ACP33; GL010; ABHD21; BM-019 Summary The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014] Expression Ubiquitous expression in thyroid (RPKM 30.9), placenta (RPKM 23.1) and 25 other tissues See more Orthologs mouse all
SPG7, Official Symbol SPG7provided by HGNC Official Full Name SPG7 matrix AAA peptidase subunit, parapleginprovided by HGNC Primary source HGNC:HGNC:11237 See related Ensembl:ENSG00000197912 MIM:602783; AllianceGenome:HGNC:11237 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 CAR; PGN; CMAR; SPG5C Summary This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014] Expression Ubiquitous expression in thyroid (RPKM 11.5), skin (RPKM 10.1) and 25 other tissues See more Orthologs mouse all
SPHK1, Official Symbol SPHK1provided by HGNC Official Full Name sphingosine kinase 1provided by HGNC Primary source HGNC:HGNC:11240 See related Ensembl:ENSG00000176170 MIM:603730; AllianceGenome:HGNC:11240 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 SPHK Summary The protein encoded by this gene catalyzes the phosphorylation of sphingosine to form sphingosine-1-phosphate (S1P), a lipid mediator with both intra- and extracellular functions. Intracellularly, S1P regulates proliferation and survival, and extracellularly, it is a ligand for cell surface G protein-coupled receptors. This protein, and its product S1P, play a key role in TNF-alpha signaling and the NF-kappa-B activation pathway important in inflammatory, antiapoptotic, and immune processes. Phosphorylation of this protein alters its catalytic activity and promotes its translocation to the plasma membrane. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2017] Expression Ubiquitous expression in gall bladder (RPKM 4.9), esophagus (RPKM 4.2) and 25 other tissues See more Orthologs mouse all
SPHK2, Official Symbol SPHK2provided by HGNC Official Full Name sphingosine kinase 2provided by HGNC Primary source HGNC:HGNC:18859 See related Ensembl:ENSG00000063176 MIM:607092; AllianceGenome:HGNC:18859 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 SK 2; SK-2; SPK 2; SPK-2 Summary This gene encodes one of two sphingosine kinase isozymes that catalyze the phosphorylation of sphingosine into sphingosine 1-phosphate. Sphingosine 1-phosphate mediates many cellular processes including migration, proliferation and apoptosis, and also plays a role in several types of cancer by promoting angiogenesis and tumorigenesis. The encoded protein may play a role in breast cancer proliferation and chemoresistance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in kidney (RPKM 6.4), duodenum (RPKM 5.5) and 25 other tissues See more Orthologs mouse all
SPHKAP, Official Symbol SPHKAPprovided by HGNC Official Full Name SPHK1 interactor, AKAP domain containingprovided by HGNC Primary source HGNC:HGNC:30619 See related Ensembl:ENSG00000153820 MIM:611646; AllianceGenome:HGNC:30619 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 SKIP Summary Enables protein kinase A binding activity. Predicted to be located in Z disc. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in heart (RPKM 11.8), brain (RPKM 8.0) and 1 other tissue See more Orthologs mouse all
SPI1, Official Symbol SPI1provided by HGNC Official Full Name Spi-1 proto-oncogeneprovided by HGNC Primary source HGNC:HGNC:11241 See related Ensembl:ENSG00000066336 MIM:165170; AllianceGenome:HGNC:11241 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 OF; PU.1; AGM10; SFPI1; SPI-1; SPI-A Summary This gene encodes an ETS-domain transcription factor that activates gene expression during myeloid and B-lymphoid cell development. The nuclear protein binds to a purine-rich sequence known as the PU-box found near the promoters of target genes, and regulates their expression in coordination with other transcription factors and cofactors. The protein can also regulate alternative splicing of target genes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in bone marrow (RPKM 36.5), appendix (RPKM 27.0) and 18 other tissues See more Orthologs mouse all
SPIB, Official Symbol SPIBprovided by HGNC Official Full Name Spi-B transcription factorprovided by HGNC Primary source HGNC:HGNC:11242 See related Ensembl:ENSG00000269404 MIM:606802; AllianceGenome:HGNC:11242 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 SPI-B Summary The protein encoded by this gene is a transcriptional activator that binds to the PU-box (5'-GAGGAA-3') and acts as a lymphoid-specific enhancer. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] Expression Biased expression in lymph node (RPKM 17.1), appendix (RPKM 10.5) and 7 other tissues See more Orthologs mouse all
SPIC, Official Symbol SPICprovided by HGNC Official Full Name Spi-C transcription factorprovided by HGNC Primary source HGNC:HGNC:29549 See related Ensembl:ENSG00000166211 MIM:612568; AllianceGenome:HGNC:29549 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 SPI-C Summary The protein encoded by this gene regulates the development of red pulp macrophages, which are necessary for iron homeostasis and the recycling of red blood cells. [provided by RefSeq, Aug 2016] Expression Restricted expression toward spleen (RPKM 12.9) See more Orthologs mouse all
SPICE1, Official Symbol SPICE1provided by HGNC Official Full Name spindle and centriole associated protein 1provided by HGNC Primary source HGNC:HGNC:25083 See related Ensembl:ENSG00000163611 MIM:613447; AllianceGenome:HGNC:25083 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 SPICE; CCDC52 Summary Involved in metaphase plate congression; mitotic spindle assembly; and regulation of centriole replication. Located in centriole; centrosome; and spindle. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 3.6), endometrium (RPKM 3.3) and 25 other tissues See more Orthologs mouse all
SPIDR, Official Symbol SPIDRprovided by HGNC Official Full Name scaffold protein involved in DNA repairprovided by HGNC Primary source HGNC:HGNC:28971 See related Ensembl:ENSG00000164808 MIM:615384; AllianceGenome:HGNC:28971 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 ODG9; KIAA0146 Summary Involved in several processes, including cellular response to camptothecin; cellular response to hydroxyurea; and regulation of double-strand break repair. Located in nuclear chromosome and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lung (RPKM 8.1), thyroid (RPKM 7.9) and 25 other tissues See more Orthologs mouse all
SPIN1, Official Symbol SPIN1provided by HGNC Official Full Name spindlin 1provided by HGNC Primary source HGNC:HGNC:11243 See related Ensembl:ENSG00000106723 MIM:609936; AllianceGenome:HGNC:11243 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 SPIN; TDRD24 Summary Enables methylated histone binding activity. Involved in positive regulation of Wnt signaling pathway; positive regulation of transcription, DNA-templated; and rRNA transcription. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in endometrium (RPKM 40.9), brain (RPKM 36.4) and 25 other tissues See more Orthologs mouse all
SPIN2A, Official Symbol SPIN2Aprovided by HGNC Official Full Name spindlin family member 2Aprovided by HGNC Primary source HGNC:HGNC:20694 See related Ensembl:ENSG00000147059 MIM:300621; AllianceGenome:HGNC:20694 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 DXF34; SPIN2; TDRD25; dJ323P24.1 Summary This gene encodes one of three members of the DXF34 gene family, located in a 100-kb region of chromosome Xp11.21. [provided by RefSeq, Nov 2009] Expression Ubiquitous expression in brain (RPKM 1.5), prostate (RPKM 1.4) and 25 other tissues See more
SPIN2B, Official Symbol SPIN2Bprovided by HGNC Official Full Name spindlin family member 2Bprovided by HGNC Primary source HGNC:HGNC:33147 See related Ensembl:ENSG00000186787 MIM:300517; AllianceGenome:HGNC:33147 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 SPIN-2; TDRD26; SPIN-2B; dJ323P24.2; SPIN2_duplicate Summary Enables methylated histone binding activity. Predicted to be involved in regulation of transcription, DNA-templated. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 2.6), brain (RPKM 2.6) and 25 other tissues See more Orthologs all
SPIN2P1, Official Symbol SPIN2P1provided by HGNC Official Full Name SPIN2 family pseudogene 1provided by HGNC Primary source HGNC:HGNC:54967 See related Ensembl:ENSG00000237708 AllianceGenome:HGNC:54967 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SPIN3, Official Symbol SPIN3provided by HGNC Official Full Name spindlin family member 3provided by HGNC Primary source HGNC:HGNC:27272 See related Ensembl:ENSG00000204271 AllianceGenome:HGNC:27272 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 SPIN-3; TDRD27; bA445O16.1 Summary Enables methylated histone binding activity. Predicted to be involved in regulation of transcription, DNA-templated. Predicted to be integral component of membrane. Predicted to be active in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 4.7), prostate (RPKM 3.7) and 24 other tissues See more Orthologs all
SPIN4, Official Symbol SPIN4provided by HGNC Official Full Name spindlin family member 4provided by HGNC Primary source HGNC:HGNC:27040 See related Ensembl:ENSG00000186767 AllianceGenome:HGNC:27040 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 TDRD28 Summary Enables methylated histone binding activity. Predicted to be involved in regulation of transcription, DNA-templated. Predicted to be active in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
SPIN4-AS1, Official Symbol SPIN4-AS1provided by HGNC Official Full Name SPIN4 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41177 See related AllianceGenome:HGNC:41177 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SPINDOC, Official Symbol SPINDOCprovided by HGNC Official Full Name spindlin interactor and repressor of chromatin bindingprovided by HGNC Primary source HGNC:HGNC:25115 See related Ensembl:ENSG00000168005 AllianceGenome:HGNC:25115 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 C11orf84; SPIN-DOC Summary Involved in negative regulation of transcription, DNA-templated. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 9.7), placenta (RPKM 7.2) and 23 other tissues See more Orthologs mouse all
SPINK1, Official Symbol SPINK1provided by HGNC Official Full Name serine peptidase inhibitor Kazal type 1provided by HGNC Primary source HGNC:HGNC:11244 See related Ensembl:ENSG00000164266 MIM:167790; AllianceGenome:HGNC:11244 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 TCP; PCTT; PSTI; TATI; Spink3 Summary The protein encoded by this gene is a trypsin inhibitor, which is secreted from pancreatic acinar cells into pancreatic juice. It is thought to function in the prevention of trypsin-catalyzed premature activation of zymogens within the pancreas and the pancreatic duct. Mutations in this gene are associated with hereditary pancreatitis and tropical calcific pancreatitis. [provided by RefSeq, Oct 2008] Expression Biased expression in pancreas (RPKM 2401.2), stomach (RPKM 337.4) and 2 other tissues See more Orthologs mouse all
SPINK13, Official Symbol SPINK13provided by HGNC Official Full Name serine peptidase inhibitor Kazal type 13provided by HGNC Primary source HGNC:HGNC:27200 See related Ensembl:ENSG00000214510 MIM:615205; AllianceGenome:HGNC:27200 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 LiESP6; SPINK5L3; HESPINTOR; HBVDNAPTP1 Summary Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of acrosome reaction. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
SPINK14, Official Symbol SPINK14provided by HGNC Official Full Name serine peptidase inhibitor Kazal type 14 (putative)provided by HGNC Primary source HGNC:HGNC:33825 See related Ensembl:ENSG00000196800 AllianceGenome:HGNC:33825 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 SPINK5L2 Summary Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of endopeptidase activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
SPINK2, Official Symbol SPINK2provided by HGNC Official Full Name serine peptidase inhibitor Kazal type 2provided by HGNC Primary source HGNC:HGNC:11245 See related Ensembl:ENSG00000128040 MIM:605753; AllianceGenome:HGNC:11245 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 SPGF29; HUSI-II Summary This gene encodes a member of the family of serine protease inhibitors of the Kazal type (SPINK). The encoded protein acts as a trypsin and acrosin inhibitor in the genital tract and is localized in the spermatozoa. The protein has been associated with the progression of lymphomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] Expression Restricted expression toward testis (RPKM 57.3) See more Orthologs mouse all
SPINK4, Official Symbol SPINK4provided by HGNC Official Full Name serine peptidase inhibitor Kazal type 4provided by HGNC Primary source HGNC:HGNC:16646 See related Ensembl:ENSG00000122711 MIM:613929; AllianceGenome:HGNC:16646 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 PEC60; HEL136; PEC-60 Summary Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of endopeptidase activity and response to xenobiotic stimulus. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in colon (RPKM 295.5), small intestine (RPKM 212.3) and 2 other tissues See more Orthologs mouse all
SPINK5, Official Symbol SPINK5provided by HGNC Official Full Name serine peptidase inhibitor Kazal type 5provided by HGNC Primary source HGNC:HGNC:15464 See related Ensembl:ENSG00000133710 MIM:605010; AllianceGenome:HGNC:15464 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 NS; NETS; LEKTI; LETKI; VAKTI Summary This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] Expression Biased expression in esophagus (RPKM 472.7) and skin (RPKM 127.7) See more Orthologs mouse all