GJB4

Chr 1p34.3

gap junction protein beta 4

Aliases:: CX30.3
MANE:: ENST00000339480.3

OMIM: 605425 ↗NCBI: 127534 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

GJB4 · Q9NTQ9

v62025-08-01

Predicted Aligned Error matrix for GJB4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.1/ 100

Confident

266 residues

Confidence breakdown

Very high(≥ 90)40%
Confident(70–90)34%
Low(50–70)11%
Very low(< 50)15%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ichthyosis and erythrokeratoderma
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar keratoderma and erythrokeratodermas
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare genetic inflammatory skin disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Monogenic hearing loss

Disease associations (Open Targets)

erythrokeratodermia variabilis
0.77
dermatophytosis
0.21
liver disorder
0.20
gestational diabetes
0.19
hereditary disease
0.19
malignant renal pelvis neoplasm
0.18
alcohol drinking
0.18
gallbladder disorder
0.18
non-autoimmune hemolytic anemia
0.15
poisoning
0.15

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

Protein function (UniProt)

Gap junction beta-4 protein

Structural component of gap junctions (By similarity). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane (By similarity). Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (By similarity)