psui3905/ncbi_genes_summary huggingface dataset:
CSMD3, Official Symbol CSMD3provided by HGNC Official Full Name CUB and Sushi multiple domains 3provided by HGNC Primary source HGNC:HGNC:19291 See related Ensembl:ENSG00000164796 MIM:608399; AllianceGenome:HGNC:19291 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 involved in regulation of dendrite development. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 1.9), testis (RPKM 0.7) and 1 other tissue See more Orthologs mouse all
CSN1S1, Official Symbol CSN1S1provided by HGNC Official Full Name casein alpha s1provided by HGNC Primary source HGNC:HGNC:2445 See related Ensembl:ENSG00000126545 MIM:115450; AllianceGenome:HGNC:2445 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 CASA; CSN1 Summary Predicted to be involved in response to dehydroepiandrosterone; response to estradiol; and response to steroid hormone. Located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward fat (RPKM 9.4) See more Orthologs mouse all
CSN1S2AP, Official Symbol CSN1S2APprovided by HGNC Official Full Name casein alpha s2 like A, pseudogeneprovided by HGNC Primary source HGNC:HGNC:20230 See related Ensembl:ENSG00000234124 AllianceGenome:HGNC:20230 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 CSN1S2A Summary This locus is the equivalent of casein gamma in mouse (GeneID 12993) and is found in a cluster of casein genes, similar to other mammals. In human, the potential open reading frame that matches the homologous protein from other species is prematurely truncated shortly after the signal peptide. Therefore, this locus appears to be a pseudogene. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more
CSN2, Official Symbol CSN2provided by HGNC Official Full Name casein betaprovided by HGNC Primary source HGNC:HGNC:2447 See related Ensembl:ENSG00000135222 MIM:115460; AllianceGenome:HGNC:2447 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 CASB; PDC213 Summary This gene is a member of the beta casein family. There are two types of casein protein, beta (encoded by this gene) and kappa, both of which are secreted in human milk. Beta casein is the principal protein in human milk and the primary source of essential amino acids for a suckling infant. Beta and kappa casein proteins acting together form spherical micelles which bind within them important dietary minerals, such as calcium and phosphorous. In addition, the C-terminal 14 aa of the protein has antimicrobial activity, especially in preterm milk, displaying antibacterial activity against S. aureus and Y. enterocolitica. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2020] Expression Low expression observed in reference dataset See more Orthologs mouse all
CSN3, Official Symbol CSN3provided by HGNC Official Full Name casein kappaprovided by HGNC Primary source HGNC:HGNC:2446 See related Ensembl:ENSG00000171209 MIM:601695; AllianceGenome:HGNC:2446 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 KCA; CSNK; CNS10; CSN10 Summary Involved in lactation and protein stabilization. Located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward salivary gland (RPKM 13.6) See more Orthologs mouse all
CSNK1A1, Official Symbol CSNK1A1provided by HGNC Official Full Name casein kinase 1 alpha 1provided by HGNC Primary source HGNC:HGNC:2451 See related Ensembl:ENSG00000113712 MIM:600505; AllianceGenome:HGNC:2451 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 CK1; CK1a; CKIa; HLCDGP1; PRO2975; HEL-S-77p Summary Enables protein serine/threonine kinase activity. Involved in several processes, including negative regulation of canonical Wnt signaling pathway; peptidyl-serine phosphorylation; and positive regulation of proteasomal ubiquitin-dependent protein catabolic process. Located in centrosome; cytosol; and nuclear speck. Part of beta-catenin destruction complex. Colocalizes with keratin filament and mRNA cleavage and polyadenylation specificity factor complex. Biomarker of Alzheimer's disease and inclusion body myositis. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in esophagus (RPKM 69.2), gall bladder (RPKM 47.2) and 25 other tissues See more Orthologs mouse all
CSNK1A1L, Official Symbol CSNK1A1Lprovided by HGNC Official Full Name casein kinase 1 alpha 1 likeprovided by HGNC Primary source HGNC:HGNC:20289 See related Ensembl:ENSG00000180138 AllianceGenome:HGNC:20289 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 CK1 Summary Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in negative regulation of canonical Wnt signaling pathway and peptidyl-serine phosphorylation. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
CSNK1D, Official Symbol CSNK1Dprovided by HGNC Official Full Name casein kinase 1 deltaprovided by HGNC Primary source HGNC:HGNC:2452 See related Ensembl:ENSG00000141551 MIM:600864; AllianceGenome:HGNC:2452 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 ASPS; CKId; HCKID; FASPS2; CKIdelta; CKI-delta Summary This gene is a member of the casein kinase I (CKI) gene family whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein may also be involved in the regulation of apoptosis, circadian rhythm, microtubule dynamics, chromosome segregation, and p53-mediated effects on growth. The encoded protein is highly similar to the mouse and rat CK1 delta homologs. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014] Expression Ubiquitous expression in spleen (RPKM 17.2), prostate (RPKM 17.2) and 25 other tissues See more Orthologs mouse all
CSNK1E, Official Symbol CSNK1Eprovided by HGNC Official Full Name casein kinase 1 epsilonprovided by HGNC Primary source HGNC:HGNC:2453 See related Ensembl:ENSG00000213923 MIM:600863; AllianceGenome:HGNC:2453 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 CKIe; HCKIE; CKIepsilon Summary The protein encoded by this gene is a serine/threonine protein kinase and a member of the casein kinase I protein family, whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein is found in the cytoplasm as a monomer and can phosphorylate a variety of proteins, including itself. This protein has been shown to phosphorylate period, a circadian rhythm protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2014] Expression Ubiquitous expression in brain (RPKM 32.2), endometrium (RPKM 32.2) and 25 other tissues See more Orthologs mouse all
CSNK1G1, Official Symbol CSNK1G1provided by HGNC Official Full Name casein kinase 1 gamma 1provided by HGNC Primary source HGNC:HGNC:2454 See related Ensembl:ENSG00000169118 MIM:606274; AllianceGenome:HGNC:2454 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 CK1gamma1 Summary This gene encodes a member of the casein kinase I gene family. This family is comprised of serine/threonine kinases that phosphorylate acidic proteins such as caseins. The encoded kinase plays a role in cell cycle checkpoint arrest in response to stalled replication forks by phosphorylating Claspin. A mutation in this gene may be associated with non-syndromic early-onset epilepsy (NSEOE). [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in testis (RPKM 6.6), thyroid (RPKM 4.2) and 25 other tissues See more Orthologs mouse all
CSNK1G2, Official Symbol CSNK1G2provided by HGNC Official Full Name casein kinase 1 gamma 2provided by HGNC Primary source HGNC:HGNC:2455 See related Ensembl:ENSG00000133275 MIM:602214; AllianceGenome:HGNC:2455 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 CK1g2 Summary Enables protein serine/threonine kinase activity. Involved in peptidyl-serine phosphorylation. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 21.2), spleen (RPKM 15.0) and 25 other tissues See more Orthologs mouse all
CSNK1G2-AS1, Official Symbol CSNK1G2-AS1provided by HGNC Official Full Name CSNK1G2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:28604 See related Ensembl:ENSG00000180846 AllianceGenome:HGNC:28604 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 C19orf34 Expression Restricted expression toward testis (RPKM 3.9) See more
CSNK1G2P1, Official Symbol CSNK1G2P1provided by HGNC Official Full Name casein kinase 1 gamma 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:49739 See related AllianceGenome:HGNC:49739 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CSNK1G3, Official Symbol CSNK1G3provided by HGNC Official Full Name casein kinase 1 gamma 3provided by HGNC Primary source HGNC:HGNC:2456 See related Ensembl:ENSG00000151292 MIM:604253; AllianceGenome:HGNC:2456 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 CSNK1G3L; CKI-gamma 3 Summary This gene encodes a member of a family of serine/threonine protein kinases that phosphorylate caseins and other acidic proteins. A related protein in the African clawed frog participates in the transmission of Wnt/beta-catenin signaling. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] Expression Ubiquitous expression in colon (RPKM 8.2), small intestine (RPKM 7.3) and 25 other tissues See more Orthologs mouse all
CSNK2A1, Official Symbol CSNK2A1provided by HGNC Official Full Name casein kinase 2 alpha 1provided by HGNC Primary source HGNC:HGNC:2457 See related Ensembl:ENSG00000101266 MIM:115440; AllianceGenome:HGNC:2457 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 CKII; Cka1; Cka2; CK2A1; OCNDS Summary Casein kinase II is a serine/threonine protein kinase that phosphorylates acidic proteins such as casein. It is involved in various cellular processes, including cell cycle control, apoptosis, and circadian rhythm. The kinase exists as a tetramer and is composed of an alpha, an alpha-prime, and two beta subunits. The alpha subunits contain the catalytic activity while the beta subunits undergo autophosphorylation. The protein encoded by this gene represents the alpha subunit. Multiple transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Apr 2018] Expression Ubiquitous expression in testis (RPKM 33.5), brain (RPKM 25.8) and 25 other tissues See more Orthologs mouse all
CSNK2A2, Official Symbol CSNK2A2provided by HGNC Official Full Name casein kinase 2 alpha 2provided by HGNC Primary source HGNC:HGNC:2459 See related Ensembl:ENSG00000070770 MIM:115442; AllianceGenome:HGNC:2459 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 CK2A2; CSNK2A1; CK2alpha' Summary This gene encodes the alpha', or alpha 2, catalytic subunit of the protein kinase enzyme, casein kinase 2 (CK2). Casein kinase 2 is a serine/threonine protein kinase that phosphorylates acidic proteins such as casein. It is involved in various cellular processes, including cell cycle control, apoptosis, and circadian rhythms. This heterotetrameric kinase includes two catalytic subunits, either alpha or alpha', and two regulatory beta subunits. The closely related gene paralog encoding the alpha, or alpha 1 subunit (CSNK2A1, Gene ID: 1457) is found on chromosome 20. An intronic variant in this gene (alpha 2) may be associated with leukocyte telomere length in a South Asian population. A related transcribed pseudogene is found on chromosome 11. [provided by RefSeq, Aug 2017] Expression Broad expression in testis (RPKM 55.0), skin (RPKM 19.3) and 24 other tissues See more Orthologs mouse all
CSNK2A3, Official Symbol CSNK2A3provided by HGNC Official Full Name casein kinase 2 alpha 3provided by HGNC Primary source HGNC:HGNC:2458 See related Ensembl:ENSG00000254598 AllianceGenome:HGNC:2458 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 CSNK2A1P Summary This gene encodes a protein that is highly similar to the casein kinase II alpha protein. Casein kinase II is a serine/threonine protein kinase complex that phosphorylates numerous substrates including casein. The alpha subunit is the catalytic component of the complex. Mutations in this gene may be associated with a susceptibility to lung cancer. There are contradictory views among published reports of this gene as to whether or not it is a protein-coding gene or a processed pseudogene (PMIDs: 20625391, 20625391 and 10094393). [provided by RefSeq, Feb 2012]
CSNK2B, Official Symbol CSNK2Bprovided by HGNC Official Full Name casein kinase 2 betaprovided by HGNC Primary source HGNC:HGNC:2460 See related Ensembl:ENSG00000204435 MIM:115441; AllianceGenome:HGNC:2460 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 G5A; CK2B; CK2N; Ckb1; Ckb2; CSK2B; POBINDS Summary This gene encodes the beta subunit of casein kinase II, a ubiquitous protein kinase which regulates metabolic pathways, signal transduction, transcription, translation, and replication. The enzyme is composed of three subunits, alpha, alpha prime and beta, which form a tetrameric holoenzyme. The alpha and alpha prime subunits are catalytic, while the beta subunit serves regulatory functions. The enzyme localizes to the endoplasmic reticulum and the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] Expression Ubiquitous expression in testis (RPKM 91.5), skin (RPKM 69.4) and 25 other tissues See more Orthologs mouse all
CSNKA2IP, Official Symbol CSNKA2IPprovided by HGNC Official Full Name casein kinase 2 subunit alpha' interacting proteinprovided by HGNC Primary source HGNC:HGNC:53637 See related Ensembl:ENSG00000283434 AllianceGenome:HGNC:53637 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 located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
CSP1, Official Symbol CSP1provided by HGNC Official Full Name CS pseudogene 1provided by HGNC Primary source HGNC:HGNC:54777 See related AllianceGenome:HGNC:54777 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CSP2, Official Symbol CSP2provided by HGNC Official Full Name CS pseudogene 2provided by HGNC Primary source HGNC:HGNC:54779 See related Ensembl:ENSG00000241218 AllianceGenome:HGNC:54779 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CSPG4, Official Symbol CSPG4provided by HGNC Official Full Name chondroitin sulfate proteoglycan 4provided by HGNC Primary source HGNC:HGNC:2466 See related Ensembl:ENSG00000173546 MIM:601172; AllianceGenome:HGNC:2466 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 NG2; MCSP; MCSPG; MSK16; CSPG4A; HMW-MAA; MEL-CSPG Summary A human melanoma-associated chondroitin sulfate proteoglycan plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes. CSPG4 represents an integral membrane chondroitin sulfate proteoglycan expressed by human malignant melanoma cells. [provided by RefSeq, Jul 2008] Expression Broad expression in fat (RPKM 18.8), placenta (RPKM 10.9) and 19 other tissues See more Orthologs mouse all
CSPG4BP, Official Symbol CSPG4BPprovided by HGNC Official Full Name chondroitin sulfate proteoglycan family member 4B, pseudogeneprovided by HGNC Primary source HGNC:HGNC:51505 See related Ensembl:ENSG00000232517 AllianceGenome:HGNC:51505 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CSPG4P11, Official Symbol CSPG4P11provided by HGNC Official Full Name chondroitin sulfate proteoglycan 4 pseudogene 11provided by HGNC Primary source HGNC:HGNC:48363 See related AllianceGenome:HGNC:48363 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CSPG4P12, Official Symbol CSPG4P12provided by HGNC Official Full Name chondroitin sulfate proteoglycan 4 pseudogene 12provided by HGNC Primary source HGNC:HGNC:48362 See related Ensembl:ENSG00000259295 AllianceGenome:HGNC:48362 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CSPG4P9
CSPG4P13, Official Symbol CSPG4P13provided by HGNC Official Full Name chondroitin sulfate proteoglycan 4 pseudogene 13provided by HGNC Primary source HGNC:HGNC:49195 See related Ensembl:ENSG00000260139 AllianceGenome:HGNC:49195 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CSPG4P1Y, Official Symbol CSPG4P1Yprovided by HGNC Official Full Name CSPG4 pseudogene 1 Y-linkedprovided by HGNC Primary source HGNC:HGNC:16478 See related Ensembl:ENSG00000240450 MIM:400034; AllianceGenome:HGNC:16478 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 CSPG4LY; CSPG4P1; CSPG4PY1; CSPG4LYP1 Summary There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]
CSPG4P2Y, Official Symbol CSPG4P2Yprovided by HGNC Official Full Name CSPG4 pseudogene 2 Y-linkedprovided by HGNC Primary source HGNC:HGNC:32424 See related Ensembl:ENSG00000244231 AllianceGenome:HGNC:32424 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CSPG4P2; CSPG4PY2; CSPG4LYP2 Summary There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more centromeric copy. This gene is identical to the transcribed locus CSPG4P1Y, GeneID 114758, but is represented as non-transcribed because there is no representative transcript available in a public sequence database. [provided by RefSeq, Feb 2011]
CSPG5, Official Symbol CSPG5provided by HGNC Official Full Name chondroitin sulfate proteoglycan 5provided by HGNC Primary source HGNC:HGNC:2467 See related Ensembl:ENSG00000114646 MIM:606775; AllianceGenome:HGNC:2467 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 NGC Summary The protein encoded by this gene is a proteoglycan that may function as a neural growth and differentiation factor. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] Expression Restricted expression toward brain (RPKM 49.7) See more Orthologs mouse all
CSPP1, Official Symbol CSPP1provided by HGNC Official Full Name centrosome and spindle pole associated protein 1provided by HGNC Primary source HGNC:HGNC:26193 See related Ensembl:ENSG00000104218 MIM:611654; AllianceGenome:HGNC:26193 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 CSPP; CSPP-L; JBTS21 Summary This gene encodes a centrosome and spindle pole associated protein. The encoded protein plays a role in cell-cycle progression and spindle organization, regulates cytokinesis, interacts with Nephrocystin 8 and is required for cilia formation. Mutations in this gene result in primary cilia abnormalities and classical Joubert syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014] Expression Broad expression in testis (RPKM 7.4), kidney (RPKM 3.8) and 25 other tissues See more Orthologs mouse all
CSRNP1, Official Symbol CSRNP1provided by HGNC Official Full Name cysteine and serine rich nuclear protein 1provided by HGNC Primary source HGNC:HGNC:14300 See related Ensembl:ENSG00000144655 MIM:606458; AllianceGenome:HGNC:14300 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 AXUD1; URAX1; TAIP-3; CSRNP-1; FAM130B Summary This gene encodes a protein that localizes to the nucleus and expression of this gene is induced in response to elevated levels of axin. The Wnt signalling pathway, which is negatively regulated by axin, is important in axis formation in early development and impaired regulation of this signalling pathway is often involved in tumors. A decreased level of expression of this gene in tumors compared to the level of expression in their corresponding normal tissues suggests that this gene product has a tumor suppressor function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Expression Broad expression in bone marrow (RPKM 36.5), gall bladder (RPKM 21.9) and 24 other tissues See more Orthologs mouse all
CSRNP2, Official Symbol CSRNP2provided by HGNC Official Full Name cysteine and serine rich nuclear protein 2provided by HGNC Primary source HGNC:HGNC:16006 See related Ensembl:ENSG00000110925 MIM:620404; AllianceGenome:HGNC:16006 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 C12orf2; PPP1R72; TAIP-12; C12orf22; FAM130A1 Summary The protein encoded by this gene belongs to the CSRNP family of nuclear proteins that share conserved regions, including cysteine- and serine- rich regions, a basic domain, a transcriptional activation domain, and bind the sequence 'AGAGTG', thus have the hallmark of transcription factors. Studies in mice suggest that these genes may have redundant functions. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011] Expression Broad expression in testis (RPKM 16.6), brain (RPKM 11.7) and 25 other tissues See more Orthologs mouse all
CSRNP3, Official Symbol CSRNP3provided by HGNC Official Full Name cysteine and serine rich nuclear protein 3provided by HGNC Primary source HGNC:HGNC:30729 See related Ensembl:ENSG00000178662 MIM:620405; AllianceGenome:HGNC:30729 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 MBU1; TAIP2; TAIP-2; PPP1R73; FAM130A2 Summary Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific DNA binding activity. Predicted to be involved in positive regulation of apoptotic process and positive regulation of transcription by RNA polymerase II. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 7.4), endometrium (RPKM 2.0) and 15 other tissues See more Orthologs mouse all
CSRP1, Official Symbol CSRP1provided by HGNC Official Full Name cysteine and glycine rich protein 1provided by HGNC Primary source HGNC:HGNC:2469 See related Ensembl:ENSG00000159176 MIM:123876; AllianceGenome:HGNC:2469 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 CRP; CRP1; CSRP; CYRP; D1S181E; HEL-141; HEL-S-286 Summary This gene encodes a member of the cysteine-rich protein (CSRP) family. This gene family includes a group of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this gene product occurs in proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010] Expression Broad expression in prostate (RPKM 425.1), endometrium (RPKM 406.6) and 22 other tissues See more Orthologs mouse all
CSRP2, Official Symbol CSRP2provided by HGNC Official Full Name cysteine and glycine rich protein 2provided by HGNC Primary source HGNC:HGNC:2470 See related Ensembl:ENSG00000175183 MIM:601871; AllianceGenome:HGNC:2470 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 CRP2; LMO5; SmLIM Summary CSRP2 is a member of the CSRP family of genes, encoding a group of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. CRP2 contains two copies of the cysteine-rich amino acid sequence motif (LIM) with putative zinc-binding activity, and may be involved in regulating ordered cell growth. Other genes in the family include CSRP1 and CSRP3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in esophagus (RPKM 37.2), placenta (RPKM 35.3) and 23 other tissues See more Orthologs mouse all
CSRP3, Official Symbol CSRP3provided by HGNC Official Full Name cysteine and glycine rich protein 3provided by HGNC Primary source HGNC:HGNC:2472 See related Ensembl:ENSG00000129170 MIM:600824; AllianceGenome:HGNC:2472 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 CLP; MLP; CRP3; LMO4; CMD1M; CMH12 Summary This gene encodes a member of the CSRP family of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this protein is found in a group of proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Mutations in this gene are thought to cause heritable forms of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in humans. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008] Expression Restricted expression toward heart (RPKM 715.6) See more Orthologs mouse all
CSRP3-AS1, Official Symbol CSRP3-AS1provided by HGNC Official Full Name CSRP3 and E2F8 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:54183 See related AllianceGenome:HGNC:54183 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
CST1, Official Symbol CST1provided by HGNC Official Full Name cystatin SNprovided by HGNC Primary source HGNC:HGNC:2473 See related Ensembl:ENSG00000170373 MIM:123855; AllianceGenome:HGNC:2473 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a cysteine proteinase inhibitor found in saliva, tears, urine, and seminal fluid. [provided by RefSeq, Jul 2008] Expression Restricted expression toward salivary gland (RPKM 7300.7) See more
CST11, Official Symbol CST11provided by HGNC Official Full Name cystatin 11provided by HGNC Primary source HGNC:HGNC:15959 See related Ensembl:ENSG00000125831 MIM:609731; AllianceGenome:HGNC:15959 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 SC13; CST8L; CTES2; dJ322G13.6 Summary The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes an epididymal-specific protein shown to have antimicrobial activity against E. coli. Alternative splicing yields two variants encoding distinct isoforms. [provided by RefSeq, Sep 2014] Expression Low expression observed in reference dataset See more Orthologs mouse all
CST12P, Official Symbol CST12Pprovided by HGNC Official Full Name cystatin 12, pseudogeneprovided by HGNC Primary source HGNC:HGNC:31920 See related Ensembl:ENSG00000226344 AllianceGenome:HGNC:31920 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as E2; Cst; Ctes4
CST2, Official Symbol CST2provided by HGNC Official Full Name cystatin SAprovided by HGNC Primary source HGNC:HGNC:2474 See related Ensembl:ENSG00000170369 MIM:123856; AllianceGenome:HGNC:2474 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a secreted thiol protease inhibitor found at high levels in saliva, tears and seminal plasma. [provided by RefSeq, Jul 2008] Expression Restricted expression toward salivary gland (RPKM 1475.8) See more Orthologs all
CST3, Official Symbol CST3provided by HGNC Official Full Name cystatin Cprovided by HGNC Primary source HGNC:HGNC:2475 See related Ensembl:ENSG00000101439 MIM:604312; AllianceGenome:HGNC:2475 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 ARMD11; HEL-S-2 Summary The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes the most abundant extracellular inhibitor of cysteine proteases, which is found in high concentrations in biological fluids and is expressed in virtually all organs of the body. A mutation in this gene has been associated with amyloid angiopathy. Expression of this protein in vascular wall smooth muscle cells is severely reduced in both atherosclerotic and aneurysmal aortic lesions, establishing its role in vascular disease. In addition, this protein has been shown to have an antimicrobial function, inhibiting the replication of herpes simplex virus. Alternative splicing results in multiple transcript variants encoding a single protein. [provided by RefSeq, Nov 2014] Expression Ubiquitous expression in brain (RPKM 148.6), salivary gland (RPKM 118.0) and 25 other tissues See more Orthologs mouse all
CST4, Official Symbol CST4provided by HGNC Official Full Name cystatin Sprovided by HGNC Primary source HGNC:HGNC:2476 See related Ensembl:ENSG00000101441 MIM:123857; AllianceGenome:HGNC:2476 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a type 2 salivary cysteine peptidase inhibitor. The protein is an S-type cystatin, based on its high level of expression in saliva, tears and seminal plasma. The specific role in these fluids is unclear but antibacterial and antiviral activity is present, consistent with a protective function. [provided by RefSeq, Jul 2008] Expression Restricted expression toward salivary gland (RPKM 5781.4) See more
CST5, Official Symbol CST5provided by HGNC Official Full Name cystatin Dprovided by HGNC Primary source HGNC:HGNC:2477 See related Ensembl:ENSG00000170367 MIM:123858; AllianceGenome:HGNC:2477 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein found in saliva and tears. The encoded protein may play a protective role against proteinases present in the oral cavity. [provided by RefSeq, Jul 2008] Expression Restricted expression toward salivary gland (RPKM 368.3) See more Orthologs all
CST6, Official Symbol CST6provided by HGNC Official Full Name cystatin E/Mprovided by HGNC Primary source HGNC:HGNC:2478 See related Ensembl:ENSG00000175315 MIM:601891; AllianceGenome:HGNC:2478 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 ECTD15 Summary The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. This gene encodes a cystatin from the type 2 family, which is down-regulated in metastatic breast tumor cells as compared to primary tumor cells. Loss of expression is likely associated with the progression of a primary tumor to a metastatic phenotype. [provided by RefSeq, Jul 2008] Expression Biased expression in skin (RPKM 70.4) and lung (RPKM 4.9) See more Orthologs mouse all
CST7, Official Symbol CST7provided by HGNC Official Full Name cystatin Fprovided by HGNC Primary source HGNC:HGNC:2479 See related Ensembl:ENSG00000077984 MIM:603253; AllianceGenome:HGNC:2479 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 CMAP Summary The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. This gene encodes a glycosylated cysteine protease inhibitor with a putative role in immune regulation through inhibition of a unique target in the hematopoietic system. Expression of the protein has been observed in various human cancer cell lines established from malignant tumors. [provided by RefSeq, Jul 2008] Expression Biased expression in bone marrow (RPKM 321.5), spleen (RPKM 27.1) and 1 other tissue See more Orthologs mouse all
CST8, Official Symbol CST8provided by HGNC Official Full Name cystatin 8provided by HGNC Primary source HGNC:HGNC:2480 See related Ensembl:ENSG00000125815 MIM:608683; AllianceGenome:HGNC:2480 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 CRES; CTES5 Summary The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein similar to type 2 cystatins. The encoded protein exhibits highly tissue-specific expression in the reproductive tract, suggesting implicit roles in reproduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Expression Restricted expression toward testis (RPKM 2.7) See more Orthologs mouse all
CST9, Official Symbol CST9provided by HGNC Official Full Name cystatin 9provided by HGNC Primary source HGNC:HGNC:13261 See related Ensembl:ENSG00000173335 MIM:616543; AllianceGenome:HGNC:13261 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 CLM; CTES7A Summary The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a secreted protein that may play a role in hematopoietic differentiation or inflammation. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs all
CST9L, Official Symbol CST9Lprovided by HGNC Official Full Name cystatin 9 likeprovided by HGNC Primary source HGNC:HGNC:16233 See related Ensembl:ENSG00000101435 MIM:616536; AllianceGenome:HGNC:16233 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 CTES7B; bA218C14.1 Summary The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein similar to mouse cystatin 9. Based on its testis-specific expression, it is likely to have a role in tissue reorganization during early testis development. [provided by RefSeq, Jul 2008] Expression Restricted expression toward testis (RPKM 37.7) See more Orthologs all