AlphaFold predicted structure
GJB2 · P29033
Mean pLDDT
86.2/ 100
Confident
226 residues
Confidence breakdown
- Very high(≥ 90)51%
- Confident(70–90)36%
- Low(50–70)10%
- Very low(< 50)3%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
GJB2
Chr 13q12.11gap junction protein beta 2
- Aliases:
- CX26, NSRD1
- MANE:
- ENST00000382848.5
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Ichthyosis and erythrokeratoderma
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedMonogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomalPalmoplantar keratoderma and erythrokeratodermas
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedPalmoplantar keratodermas
BOTH monoallelic and biallelic, autosomal or pseudoautosomalEctodermal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFamilial hidradenitis suppurativa
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEctodermal dysplasia without a known gene mutation
UnknownFamilial cicatricial alopecia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Disease associations (Open Targets)
palmoplantar keratoderma-deafness syndrome
0.81autosomal dominant nonsyndromic hearing loss 3A
0.79keratoderma hereditarium mutilans
0.79Bart-Pumphrey syndrome
0.79autosomal dominant keratitis-ichthyosis-hearing loss syndrome
0.78KID syndrome
0.77Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
0.74autosomal recessive nonsyndromic hearing loss 1A
0.73hearing loss disorder
0.71deafness
0.71
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Gap junction beta-2 protein
Structural component of gap junctions (PubMed:16849369, PubMed:17551008, PubMed:19340074, PubMed:19384972, PubMed:21094651, PubMed:26753910). 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 (PubMed:17551008, PubMed:19340074, PubMed:21094651, PubMed:26753910). Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (PubMed:16849369, PubMed:19384972, PubMed:21094651)
Diseases associated with GJB2
Curated MONDO disease pages that list GJB2 among their top associated genes.