CDH7

Chr 18

cadherin 7

Also known as: CDH7L1

NCBI Gene: 1005 ENSG00000081138 UniProt: Q9ULB5

This gene encodes cadherin-7, a calcium-dependent cell adhesion protein that mediates homophilic cell-cell binding and contributes to the sorting of heterogeneous cell types during development. Mutations in CDH7 have been associated with bipolar disorder. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.393), suggesting intolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium dependent cell-cell adhesion molecule is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I cadherins. Cadherins mediate cell-cell binding in a homophilic manner, contributing to the sorting of heterogeneous cell types. Mutations in this gene may be associated with bipolar disease in human patients. This gene is present in a gene cluster on chromosome 18. [provided by RefSeq, May 2016]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.39

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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