CDH8

CDH8
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1ZXK, 2A62
Identifiers
Aliases	CDH8 , Nbla04261, cadherin 8
External IDs	OMIM: 603008; MGI: 107434; HomoloGene: 55604; GeneCards: CDH8; OMA:CDH8 - orthologs
Gene location (Human) Chr. Chromosome 16 (human) [1] Band 16q21 Start 61,647,242 bp [1] End 62,037,035 bp [1]
Gene location (Mouse) Chr. Chromosome 8 (mouse) [2] Band 8 D1|8 49.4 cM Start 99,751,103 bp [2] End 100,143,103 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell Brodmann area 23 prefrontal cortex lateral nuclear group of thalamus entorhinal cortex gonad middle temporal gyrus testicle dorsolateral prefrontal cortex Brodmann area 9 Top expressed in habenula lateral septal nucleus globus pallidus dorsal tegmental nucleus ventral tegmental area medial dorsal nucleus lateral hypothalamus dentate gyrus of hippocampal formation granule cell medial vestibular nucleus lateral geniculate nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding metal ion binding identical protein binding cytoskeletal protein binding protein homodimerization activity cadherin binding Cellular component axon terminus integral component of membrane synaptic cleft membrane plasma membrane synaptic membrane glutamatergic synapse cell surface catenin complex Biological process response 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 morphogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1006 12564 Ensembl ENSG00000150394 ENSMUSG00000036510 UniProt P55286 P97291 RefSeq (mRNA) NM_001796 NM_001039154 NM_001285913 NM_001285914 NM_007667 RefSeq (protein) NP_001787 NP_001034243 NP_001272842 NP_001272843 NP_031693 Location (UCSC) Chr 16: 61.65 – 62.04 Mb Chr 8: 99.75 – 100.14 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Cadherin-8 is a protein that in humans is encoded by the CDH8 gene. ^{[5] [6] [7]}

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. ^[7]

Clinical significance

Disruptions of CDH8 in humans have been implicated in autism. ^{[8] [9]}

References

1. GRCh38: Ensembl release 89: ENSG00000150394 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000036510 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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): 467–471. doi:10.1006/geno.1998.5281. PMID   9615235.
6. Suzuki S, Sano K, Tanihara H (April 1991). "Diversity of the cadherin family: evidence for eight new cadherins in nervous tissue". Cell Regulation. 2 (4): 261–270. doi:10.1091/mbc.2.4.261. PMC   361775 . PMID   2059658.
7. "Entrez Gene: CDH8 cadherin 8, type 2".
8. Pagnamenta AT, Khan H, Walker S, Gerrelli D, Wing K, Bonaglia MC, et al. (January 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.
9. Brandler WM, Antaki D, Gujral M, Noor A, Rosanio G, Chapman TR, et al. (April 2016). "Frequency and Complexity of De Novo Structural Mutation in Autism". American Journal of Human Genetics. 98 (4): 667–679. doi:10.1016/j.ajhg.2016.02.018. PMC   4833290 . PMID   27018473.

Further reading

• Tanihara H, Sano K, Heimark RL, St John T, Suzuki S (April 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, et al. (March 1998). "Molecular properties and chromosomal location of cadherin-8". Genomics. 48 (2): 186–194. doi:10.1006/geno.1997.5152. PMID   9521872.
• Shimoyama Y, Tsujimoto G, Kitajima M, Natori M (July 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): 159–167. doi:10.1042/0264-6021:3490159. PMC   1221133 . PMID   10861224.
• Blaschke S, Mueller CA, Markovic-Lipkovski J, Puch S, Miosge N, Becker V, et al. (October 2002). "Expression of cadherin-8 in renal cell carcinoma and fetal kidney". International Journal of Cancer. 101 (4): 327–334. doi:10.1002/ijc.10623. PMID   12209956. S2CID   7052911.

External links

• CDH8 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 .