GJA4

Chr 1p34.3

gap junction protein alpha 4

Aliases:: CX37
MANE:: ENST00000342280.5

OMIM: 121012 ↗NCBI: 2701 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

GJA4 · P35212

v62025-08-01

Predicted Aligned Error matrix for GJA4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

74.3/ 100

Confident

333 residues

Confidence breakdown

Very high(≥ 90)32%
Confident(70–90)31%
Low(50–70)16%
Very low(< 50)21%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Mosaic skin disorders - deep sequencing
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Segmental overgrowth disorders - Deep sequencing
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

liver disorder
0.40
neurodegenerative disease
0.37
Hepatic hemangioma
0.33
skin hemangioma
0.33
neoplasm
0.10
colorectal carcinoma
0.08
Female infertility due to fertilization defect
0.08
metabolic syndrome
0.07
hepatocellular carcinoma
0.07
dermatophytosis
0.07

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

Protein function (UniProt)

Gap junction alpha-4 protein

One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell

Curated MONDO disease pages that list GJA4 among their top associated genes.

liver disorderRare

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with GJA4