CTNND2

Chr 5p15.2

catenin delta 2

Aliases:: NPRAP, GT24
MANE:: ENST00000304623.13

OMIM: 604275 ↗NCBI: 1501 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CTNND2 · Q9UQB3

v62025-08-01

Predicted Aligned Error matrix for CTNND2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

58.5/ 100

Low

1,225 residues

Confidence breakdown

Very high(≥ 90)31%
Confident(70–90)6%
Low(50–70)5%
Very low(< 50)58%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Non-syndromic familial congenital anorectal malformations

Disease associations (Open Targets)

hereditary disease
0.47
alcohol drinking
0.43
neurodevelopmental disorder
0.41
benign adult familial myoclonic epilepsy
0.38
epilepsy, familial adult myoclonic
0.38
autosomal dominant non-syndromic intellectual disability
0.37
retinal disorder
0.31
Tietze syndrome
0.30
dermatophytosis
0.30
lung adenocarcinoma
0.30

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Catenin delta-2

Has a critical role in neuronal development, particularly in the formation and/or maintenance of dendritic spines and synapses (PubMed:25807484). Involved in the regulation of Wnt signaling (PubMed:25807484). It probably acts on beta-catenin turnover, facilitating beta-catenin interaction with GSK3B, phosphorylation, ubiquitination and degradation (By similarity). Functions as a transcriptional activator when bound to ZBTB33 (By similarity). May be involved in neuronal cell adhesion and tissue morphogenesis and integrity by regulating adhesion molecules