CDH8

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

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
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 99,024,471 bp[2] End 99,416,471 bp[2]
RNA expression pattern 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 • cell 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: 99.02 – 99.42 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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): 467–71. doi:10.1006/geno.1998.5281. PMID 9615235.
6. 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.
7. "Entrez Gene: CDH8 cadherin 8, type 2".
8. 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.
9. 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

• 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. 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.

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.