CTNND1

Chr 11q12.1

catenin delta 1

Aliases:: KIAA0384, p120, p120cas, p120ctn
MANE:: ENST00000399050.10

OMIM: 601045 ↗NCBI: 1500 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

CTNND1 · O60716

v62025-08-01

Predicted Aligned Error matrix for CTNND1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

65.1/ 100

Low

968 residues

Confidence breakdown

Very high(≥ 90)40%
Confident(70–90)9%
Low(50–70)4%
Very low(< 50)47%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Choanal atresia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial non syndromic congenital heart disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Retinal disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

Blepharo-cheilo-odontic syndrome
0.72
listeriosis
0.53
cleft lip
0.51
hereditary disease
0.42
Familial exudative vitreoretinopathy
0.38
exudative vitreoretinopathy
0.38
cleft palate
0.37
Global developmental delay
0.37
major depressive disorder
0.26
non-small cell lung carcinoma
0.21

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

Protein function (UniProt)

Catenin delta-1

Key regulator of cell-cell adhesion that associates with and regulates the cell adhesion properties of both C-, E- and N-cadherins, being critical for their surface stability (PubMed:14610055, PubMed:20371349). Promotes localization and retention of DSG3 at cell-cell junctions, via its interaction with DSG3 (PubMed:18343367). Beside cell-cell adhesion, regulates gene transcription through several transcription factors including ZBTB33/Kaiso2 and GLIS2, and the activity of Rho family GTPases and downstream cytoskeletal dynamics (PubMed:10207085, PubMed:20371349). Implicated both in cell transformation by SRC and in ligand-induced receptor signaling through the EGF, PDGF, CSF-1 and ERBB2 receptors (PubMed:17344476)