CDH8

{{Short description|Protein-coding gene in humans}}

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Cadherin-8 is a protein that in humans is encoded by the CDH8 gene.{{cite journal | vauthors = Kremmidiotis G, Baker E, Crawford J, Eyre HJ, Nahmias J, Callen DF | title = Localization of human cadherin genes to chromosome regions exhibiting cancer-related loss of heterozygosity | journal = Genomics | volume = 49 | issue = 3 | pages = 467–471 | date = May 1998 | pmid = 9615235 | doi = 10.1006/geno.1998.5281 }}{{cite journal | vauthors = Suzuki S, Sano K, Tanihara H | title = Diversity of the cadherin family: evidence for eight new cadherins in nervous tissue | journal = Cell Regulation | volume = 2 | issue = 4 | pages = 261–270 | date = April 1991 | pmid = 2059658 | pmc = 361775 | doi = 10.1091/mbc.2.4.261 }}{{cite web | title = Entrez Gene: CDH8 cadherin 8, type 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1006}}

Function

This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed in brain and is putatively involved in synaptic adhesion, axon outgrowth and guidance.

Clinical significance

Disruptions of CDH8 in humans have been implicated in autism.{{cite journal | vauthors = Pagnamenta AT, Khan H, Walker S, Gerrelli D, Wing K, Bonaglia MC, Giorda R, Berney T, Mani E, Molteni M, Pinto D, Le Couteur A, Hallmayer J, Sutcliffe JS, Szatmari P, Paterson AD, Scherer SW, Vieland VJ, Monaco AP | title = Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability | journal = Journal of Medical Genetics | volume = 48 | issue = 1 | pages = 48–54 | date = January 2011 | pmid = 20972252 | pmc = 3003876 | doi = 10.1136/jmg.2010.079426 }}{{cite journal | vauthors = Brandler WM, Antaki D, Gujral M, Noor A, Rosanio G, Chapman TR, Barrera DJ, Lin GN, Malhotra D, Watts AC, Wong LC, Estabillo JA, Gadomski TE, Hong O, Fajardo KV, Bhandari A, Owen R, Baughn M, Yuan J, Solomon T, Moyzis AG, Maile MS, Sanders SJ, Reiner GE, Vaux KK, Strom CM, Zhang K, Muotri AR, Akshoomoff N, Leal SM, Pierce K, Courchesne E, Iakoucheva LM, Corsello C, Sebat J | title = Frequency and Complexity of De Novo Structural Mutation in Autism | journal = American Journal of Human Genetics | volume = 98 | issue = 4 | pages = 667–679 | date = April 2016 | pmid = 27018473 | pmc = 4833290 | doi = 10.1016/j.ajhg.2016.02.018 }}

References

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Further reading

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  • {{cite journal | vauthors = Tanihara H, Sano K, Heimark RL, St John T, Suzuki S | title = Cloning of five human cadherins clarifies characteristic features of cadherin extracellular domain and provides further evidence for two structurally different types of cadherin | journal = Cell Adhesion and Communication | volume = 2 | issue = 1 | pages = 15–26 | date = April 1994 | pmid = 7982033 | doi = 10.3109/15419069409014199 }}
  • {{cite journal | vauthors = Kido M, Obata S, Tanihara H, Rochelle JM, Seldin MF, Taketani S, Suzuki ST | title = Molecular properties and chromosomal location of cadherin-8 | journal = Genomics | volume = 48 | issue = 2 | pages = 186–194 | date = March 1998 | pmid = 9521872 | doi = 10.1006/geno.1997.5152 }}
  • {{cite journal | vauthors = Shimoyama Y, Tsujimoto G, Kitajima M, Natori M | title = Identification of three human type-II classic cadherins and frequent heterophilic interactions between different subclasses of type-II classic cadherins | journal = The Biochemical Journal | volume = 349 | issue = Pt 1 | pages = 159–167 | date = July 2000 | pmid = 10861224 | pmc = 1221133 | doi = 10.1042/0264-6021:3490159 }}
  • {{cite journal | vauthors = Blaschke S, Mueller CA, Markovic-Lipkovski J, Puch S, Miosge N, Becker V, Mueller GA, Klein G | title = Expression of cadherin-8 in renal cell carcinoma and fetal kidney | journal = International Journal of Cancer | volume = 101 | issue = 4 | pages = 327–334 | date = October 2002 | pmid = 12209956 | doi = 10.1002/ijc.10623 | s2cid = 7052911 | doi-access = }}

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