CST2

CST2
Identifiers
Aliases	CST2 , cystatin SA
External IDs	OMIM: 123856; GeneCards: CST2; OMA:CST2 - orthologs
Gene location (Human) Chr. Chromosome 20 (human) [1] Band 20p11.21 Start 23,823,769 bp [1] End 23,826,729 bp [1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in parotid gland decidua tongue seminal vesicula thalamus thymus right adrenal cortex gallbladder olfactory zone of nasal mucosa gonad n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function peptidase inhibitor activity protein binding protease binding cysteine-type endopeptidase inhibitor activity Cellular component extracellular region extracellular space Biological process negative regulation of peptidase activity detection of chemical stimulus involved in sensory perception of bitter taste negative regulation of cysteine-type endopeptidase activity negative regulation of endopeptidase activity Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1470 n/a Ensembl ENSG00000170369 n/a UniProt P09228 n/a RefSeq (mRNA) NM_001322 n/a RefSeq (protein) NP_001313 n/a Location (UCSC) Chr 20: 23.82 – 23.83 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

Cystatin-SA is a protein that in humans is encoded by the CST2 gene. ^[3]

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. ^[3]

References

1. GRCh38: Ensembl release 89: ENSG00000170369 – Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Entrez Gene: CST2 cystatin SA".

External links

• The MEROPS online database for peptidases and their inhibitors: I25.009
• Human CST2 genome location and CST2 gene details page in the UCSC Genome Browser .

Further reading

• Brown WM, Dziegielewska KM (1997). "Friends and relations of the cystatin superfamily--new members and their evolution". Protein Sci. 6 (1): 5–12. doi:10.1002/pro.5560060102. PMC   2143511 . PMID   9007972.
• Abrahamson M, Jonsdottir S, Olafsson I, et al. (1992). "Hereditary cystatin C amyloid angiopathy: identification of the disease-causing mutation and specific diagnosis by polymerase chain reaction based analysis". Hum. Genet. 89 (4): 377–80. doi:10.1007/BF00194306. PMID   1352269. S2CID   24226058.
• Takahashi M, Honda Y, Ogawa K, Barka T (1993). "Immunofluorescence localization of cystatins in human lacrimal gland and in the exorbital lacrimal gland of the rat". Acta Ophthalmologica. 70 (5): 625–31. doi:10.1111/j.1755-3768.1992.tb02143.x. PMID   1471486. S2CID   30180390.
• Isemura S, Saitoh E, Sanada K, Minakata K (1992). "Identification of full-sized forms of salivary (S-type) cystatins (cystatin SN, cystatin SA, cystatin S, and two phosphorylated forms of cystatin S) in human whole saliva and determination of phosphorylation sites of cystatin S". J. Biochem. 110 (4): 648–54. doi:10.1093/oxfordjournals.jbchem.a123634. PMID   1778989.
• Bobek LA, Aguirre A, Levine MJ (1991). "Human salivary cystatin S. Cloning, sequence analysis, hybridization in situ and immunocytochemistry". Biochem. J. 278 (3): 627–35. doi:10.1042/bj2780627. PMC   1151393 . PMID   1898352.
• Abrahamson M, Olafsson I, Palsdottir A, et al. (1990). "Structure and expression of the human cystatin C gene". Biochem. J. 268 (2): 287–94. doi:10.1042/bj2680287. PMC   1131430 . PMID   2363674.
• Levy E, Lopez-Otin C, Ghiso J, et al. (1989). "Stroke in Icelandic patients with hereditary amyloid angiopathy is related to a mutation in the cystatin C gene, an inhibitor of cysteine proteases". J. Exp. Med. 169 (5): 1771–8. doi:10.1084/jem.169.5.1771. PMC   2189307 . PMID   2541223.
• Saitoh E, Sabatini LM, Eddy RL, et al. (1989). "The human cystatin C gene (CST3) is a member of the cystatin gene family which is localized on chromosome 20". Biochem. Biophys. Res. Commun. 162 (3): 1324–31. doi:10.1016/0006-291X(89)90818-8. PMID   2764935.
• Saitoh E, Isemura S, Sanada K, et al. (1989). "Cystatin superfamily. Evidence that family II cystatin genes are evolutionarily related to family III cystatin genes". Biol. Chem. Hoppe-Seyler. 369 Suppl: 191–7. PMID   3202964.
• Isemura S, Saitoh E, Sanada K (1988). "Characterization and amino acid sequence of a new acidic cysteine proteinase inhibitor (cystatin SA) structurally closely related to cystatin S, from human whole saliva". J. Biochem. 102 (4): 693–704. doi:10.1093/oxfordjournals.jbchem.a122107. PMID   3436950.
• Saitoh E, Kim HS, Smithies O, Maeda N (1988). "Human cysteine-proteinase inhibitors: nucleotide sequence analysis of three members of the cystatin gene family". Gene. 61 (3): 329–38. doi:10.1016/0378-1119(87)90196-X. PMID   3446578.
• Abrahamson M, Grubb A, Olafsson I, Lundwall A (1987). "Molecular cloning and sequence analysis of cDNA coding for the precursor of the human cysteine proteinase inhibitor cystatin C". FEBS Lett. 216 (2): 229–33. doi: 10.1016/0014-5793(87)80695-6 . PMID   3495457. S2CID   27976400.
• Grubb A, Löfberg H (1982). "Human gamma-trace, a basic microprotein: amino acid sequence and presence in the adenohypophysis". Proc. Natl. Acad. Sci. U.S.A. 79 (9): 3024–7. Bibcode:1982PNAS...79.3024G. doi: 10.1073/pnas.79.9.3024 . PMC   346341 . PMID   6283552.
• Brzin J, Popovic T, Turk V, et al. (1984). "Human cystatin, a new protein inhibitor of cysteine proteinases". Biochem. Biophys. Res. Commun. 118 (1): 103–9. doi:10.1016/0006-291X(84)91073-8. PMID   6365094.
• Turk V, Brzin J, Longer M, et al. (1984). "Protein inhibitors of cysteine proteinases. III. Amino-acid sequence of cystatin from chicken egg white". Hoppe-Seyler's Z. Physiol. Chem. 364 (11): 1487–96. doi:10.1515/bchm2.1983.364.2.1487. PMID   6662498.
• Dickinson DP, Thiesse M, Dempsey LD, Millar SJ (1993). "Genomic cloning, physical mapping, and expression of human type 2 cystatin genes". Crit. Rev. Oral Biol. Med. 4 (3–4): 573–80. doi:10.1177/10454411930040034401. PMID   7690606.
• Dickinson DP, Zhao Y, Thiesse M, Siciliano MJ (1995). "Direct mapping of seven genes encoding human type 2 cystatins to a single site located at 20p11.2". Genomics. 24 (1): 172–5. doi:10.1006/geno.1994.1595. PMID   7896273.
• Thiesse M, Millar SJ, Dickinson DP (1994). "The human type 2 cystatin gene family consists of eight to nine members, with at least seven genes clustered at a single locus on human chromosome 20". DNA Cell Biol. 13 (2): 97–116. doi:10.1089/dna.1994.13.97. PMID   8179826.
• Janowski R, Kozak M, Jankowska E, et al. (2001). "Human cystatin C, an amyloidogenic protein, dimerizes through three-dimensional domain swapping" (PDF). Nat. Struct. Biol. 8 (4): 316–20. doi:10.1038/86188. PMID   11276250. S2CID   28916747.