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.[7]
Clinical significanceedit
Disruptions of CDH8 in humans have been implicated in autism.[8][9]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000150394 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000036510 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Kremmidiotis G, Baker E, Crawford J, Eyre HJ, Nahmias J, Callen DF (May 1998). "Localization of human cadherin genes to chromosome regions exhibiting cancer-related loss of heterozygosity". Genomics. 49 (3): 467–71. doi:10.1006/geno.1998.5281. PMID 9615235.
^Suzuki S, Sano K, Tanihara H (Apr 1991). "Diversity of the cadherin family: evidence for eight new cadherins in nervous tissue". Cell Regulation. 2 (4): 261–70. doi:10.1091/mbc.2.4.261. PMC361775. PMID 2059658.
^Pagnamenta AT, Khan H, Walker S, Gerrelli D, Wing K, Bonaglia MC, et al. (Jan 2011). "Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability". Journal of Medical Genetics. 48 (1): 48–54. doi:10.1136/jmg.2010.079426. PMC3003876. PMID 20972252.
^Brandler WM, Antaki D, Gujral M, Noor A, Rosanio G, Chapman TR, et al. (2016). "Frequency and Complexity of De Novo Structural Mutation in Autism". The American Journal of Human Genetics. 98 (4): 1–13. doi:10.1016/j.ajhg.2016.02.018. PMC4833290. PMID 27018473.
Further readingedit
Tanihara H, Sano K, Heimark RL, St John T, Suzuki S (Apr 1994). "Cloning of five human cadherins clarifies characteristic features of cadherin extracellular domain and provides further evidence for two structurally different types of cadherin". Cell Adhesion and Communication. 2 (1): 15–26. doi:10.3109/15419069409014199. PMID 7982033.
Kido M, Obata S, Tanihara H, Rochelle JM, Seldin MF, Taketani S, Suzuki ST (Mar 1998). "Molecular properties and chromosomal location of cadherin-8". Genomics. 48 (2): 186–94. doi:10.1006/geno.1997.5152. PMID 9521872.
Shimoyama Y, Tsujimoto G, Kitajima M, Natori M (Jul 2000). "Identification of three human type-II classic cadherins and frequent heterophilic interactions between different subclasses of type-II classic cadherins". The Biochemical Journal. 349 (Pt 1): 159–67. doi:10.1042/0264-6021:3490159. PMC1221133. PMID 10861224.
Blaschke S, Mueller CA, Markovic-Lipkovski J, Puch S, Miosge N, Becker V, Mueller GA, Klein G (Oct 2002). "Expression of cadherin-8 in renal cell carcinoma and fetal kidney". International Journal of Cancer. 101 (4): 327–34. doi:10.1002/ijc.10623. PMID 12209956. S2CID 7052911.
cdh8, cadherin, protein, that, humans, encoded, gene, available, structurespdbortholog, search, pdbe, rcsblist, codes1zxk, 2a62identifiersaliases, nbla04261, cadherin, 8external, idsomim, 603008, 107434, homologene, 55604, genecards, gene, location, human, chr. Cadherin 8 is a protein that in humans is encoded by the CDH8 gene 5 6 7 CDH8Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes1ZXK 2A62IdentifiersAliasesCDH8 Nbla04261 cadherin 8External IDsOMIM 603008 MGI 107434 HomoloGene 55604 GeneCards CDH8Gene location Human Chr Chromosome 16 human 1 Band16q21Start61 647 242 bp 1 End62 037 035 bp 1 Gene location Mouse Chr Chromosome 8 mouse 2 Band8 D1 8 49 4 cMStart99 751 103 bp 2 End100 143 103 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inendothelial cellBrodmann area 23prefrontal cortexentorhinal cortexmiddle temporal gyrusdorsolateral prefrontal cortexBrodmann area 9superior frontal gyrusnucleus accumbensponsTop expressed inhabenulaglobus pallidusdorsal tegmental nucleusventral tegmental areamedial dorsal nucleuslateral hypothalamusmedial vestibular nucleuslateral geniculate nucleusmammillary bodyolfactory tubercleMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functioncalcium ion binding metal ion binding identical protein binding cytoskeletal protein binding protein homodimerization activity cadherin bindingCellular componentaxon terminus integral component of membrane synaptic cleft membrane plasma membrane synaptic membrane glutamatergic synapse cell surface catenin complexBiological processresponse to cold cell adhesion adherens junction organization synaptic transmission glutamatergic homophilic cell adhesion via plasma membrane adhesion molecules chemical synaptic transmission regulation of synapse organization cell cell junction assembly calcium dependent cell cell adhesion via plasma membrane cell adhesion molecules cell cell adhesion mediated by cadherin cell cell adhesion cell morphogenesisSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez100612564EnsemblENSG00000150394ENSMUSG00000036510UniProtP55286P97291RefSeq mRNA NM 001796NM 001039154NM 001285913NM 001285914NM 007667RefSeq protein NP 001787NP 001034243NP 001272842NP 001272843NP 031693Location UCSC Chr 16 61 65 62 04 MbChr 8 99 75 100 14 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Clinical significance 3 References 4 Further reading 5 External linksFunction editThis 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 7 Clinical significance editDisruptions of CDH8 in humans have been implicated in autism 8 9 References edit a b c GRCh38 Ensembl release 89 ENSG00000150394 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000036510 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Kremmidiotis G Baker E Crawford J Eyre HJ Nahmias J Callen DF May 1998 Localization of human cadherin genes to chromosome regions exhibiting cancer related loss of heterozygosity Genomics 49 3 467 71 doi 10 1006 geno 1998 5281 PMID 9615235 Suzuki S Sano K Tanihara H Apr 1991 Diversity of the cadherin family evidence for eight new cadherins in nervous tissue Cell Regulation 2 4 261 70 doi 10 1091 mbc 2 4 261 PMC 361775 PMID 2059658 a b Entrez Gene CDH8 cadherin 8 type 2 Pagnamenta AT Khan H Walker S Gerrelli D Wing K Bonaglia MC et al Jan 2011 Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 CDH8 in susceptibility to autism and learning disability Journal of Medical Genetics 48 1 48 54 doi 10 1136 jmg 2010 079426 PMC 3003876 PMID 20972252 Brandler WM Antaki D Gujral M Noor A Rosanio G Chapman TR et al 2016 Frequency and Complexity of De Novo Structural Mutation in Autism The American Journal of Human Genetics 98 4 1 13 doi 10 1016 j ajhg 2016 02 018 PMC 4833290 PMID 27018473 Further reading editTanihara H Sano K Heimark RL St John T Suzuki S Apr 1994 Cloning of five human cadherins clarifies characteristic features of cadherin extracellular domain and provides further evidence for two structurally different types of cadherin Cell Adhesion and Communication 2 1 15 26 doi 10 3109 15419069409014199 PMID 7982033 Kido M Obata S Tanihara H Rochelle JM Seldin MF Taketani S Suzuki ST Mar 1998 Molecular properties and chromosomal location of cadherin 8 Genomics 48 2 186 94 doi 10 1006 geno 1997 5152 PMID 9521872 Shimoyama Y Tsujimoto G Kitajima M Natori M Jul 2000 Identification of three human type II classic cadherins and frequent heterophilic interactions between different subclasses of type II classic cadherins The Biochemical Journal 349 Pt 1 159 67 doi 10 1042 0264 6021 3490159 PMC 1221133 PMID 10861224 Blaschke S Mueller CA Markovic Lipkovski J Puch S Miosge N Becker V Mueller GA Klein G Oct 2002 Expression of cadherin 8 in renal cell carcinoma and fetal kidney International Journal of Cancer 101 4 327 34 doi 10 1002 ijc 10623 PMID 12209956 S2CID 7052911 External links editCDH8 human gene location in the UCSC Genome Browser CDH8 human gene details in the UCSC Genome Browser Overview of all the structural information available in the PDB for UniProt P97291 Mouse Cadherin 8 at the PDBe KB nbsp This article on a gene on human chromosome 16 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title CDH8 amp oldid 1171007727, 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