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
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 entorhinal cortex middle temporal gyrus dorsolateral prefrontal cortex Brodmann area 9 superior frontal gyrus nucleus accumbens pons Top expressed in habenula globus pallidus dorsal tegmental nucleus ventral tegmental area medial dorsal nucleus lateral hypothalamus medial vestibular nucleus lateral geniculate nucleus mammillary body olfactory tubercle 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
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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

Further reading

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.

This article on a gene on human chromosome 16 is a stub. You can help Wikipedia by expanding it.

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This page was last edited on 18 August 2023, at 13:19