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Protein-coding gene in humans

CDH8

CDH8
All data from the card 18
Aliases
CDH8, Nbla04261, cadherin 8
External IDs
OMIM: 603008; MGI: 107434; GeneCards: CDH8
PDB
Ortholog search: PDBe RCSB
Chr.
Chromosome 16 (human)
Band
16q21
End
62,037,035 bp
Chr.
Chromosome 8 (mouse)
Band
8 D1|8 49.4 cM
End
100,143,103 bp
BioGPS
More reference expression data
Databases
NCBI: entry; OMA: entry
Species
Human
Entrez
1006
Ensembl
ENSG00000150394
UniProt
P55286
RefSeq (mRNA)
NM_001796
RefSeq (protein)
NP_001787
Location (UCSC)
Chr 16: 61.65 – 62.04 Mb

Cadherin-8 is a protein that in humans is encoded by the CDH8 gene.

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.

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Text from Wikipedia, CC BY-SA 4.0 · Source article