CTNND2

Chr 5

catenin delta 2

Also known as: GT24, NPRAP

NCBI Gene: 1501 ENSG00000169862 UniProt: Q9UQB3 OMIM: 604275

The protein regulates dendritic spine and synapse formation in neurons, controls Wnt signaling through beta-catenin regulation, and functions in neuronal cell adhesion. Mutations cause autosomal recessive intellectual disability with severe speech delay, often accompanied by autism spectrum disorder and behavioral abnormalities. This gene is extremely intolerant to loss-of-function variants, indicating its critical role in neurodevelopment.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.10

LOEUF· LoF intol.

LOF

Mechanism· G2P