GJB2

This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq]

gap junction protein, beta 2, 26kDa

Structural component of gap junctions (PubMed:17551008, PubMed:19340074, PubMed:21094651, PubMed:26753910, PubMed:16849369, PubMed:19384972).

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:21094651, PubMed:16849369, PubMed:19384972).

Aging Source: Ensembl
Cell-cell signaling Source: UniProtKB
Cellular response to dexamethasone stimulus Source: Ensembl
Cellular response to glucagon stimulus Source: Ensembl
Cellular response to oxidative stress Source: Ensembl
Decidualization Source: Ensembl
Epididymis development Source: Ensembl
Gap junction assembly Source: ARUK-UCL
Gap junction-mediated intercellular transport Source: UniProtKB
Inner ear development Source: Ensembl
Response to antibiotic Source: Ensembl
Response to estradiol Source: Ensembl
Response to human chorionic gonadotropin Source: Ensembl
Response to ischemia Source: Ensembl
Response to lipopolysaccharide Source: Ensembl
Response to progesterone Source: Ensembl
Response to retinoic acid Source: Ensembl
Sensory perception of sound Source: UniProtKB-KW
Transmembrane transport Source: ARUK-UCL

Cell membrane; Gap junction. Colocalizes with GJB4 at gap junction plaques in the cochlea.

Deafness, autosomal recessive, 1A (DFNB1A):
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Deafness, autosomal dominant, 3A (DFNA3A):
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Vohwinkel syndrome (VOWNKL):
An autosomal dominant disease characterized by hyperkeratosis, constriction on fingers and toes and congenital deafness.
Keratoderma, palmoplantar, with deafness (PPKDFN):
An autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high-frequency, sensorineural deafness.
Keratitis-ichthyosis-deafness syndrome, autosomal dominant (KIDAD):
An autosomal dominant form of keratitis-ichthyosis-deafness syndrome, a disease characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. Clinical features include deafness, ichthyosis, photophobia, absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating and dysplastic finger and toenails.
Bart-Pumphrey syndrome (BAPS):
An autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability.
Ichthyosis hystrix-like with deafness syndrome (HID syndrome):
An autosomal dominant keratinizing disorder characterized by sensorineural deafness and spiky hyperkeratosis affecting the entire skin. HID syndrome is considered to differ from the similar KID syndrome in the extent and time of occurrence of skin symptoms and the severity of the associated keratitis.