Pathway candidateNCBI-verifiedprotein-coding

GJB2

gap junction protein beta 2

NCBI Gene: 2706 Ensembl GeneCards UniProt: P29033

Pathway candidate — not linked to PFS or PSSD by any record here

GJB2 is in the library because it belongs to the sensory & ion channels family. No study, report or commentary in the corpus names it, so a variant in GJB2 is not, by itself, evidence of anything related to post-drug syndromes.

Gene summary

A protein-coding gene on chromosome 13 (sensory and ion channels). Encodes a member of the gap junction protein family (gap junction beta 2) but is more commonly known as connexin 26. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells.

Source: NCBI Gene, accessed 2026-10-07.

Protein reference (UniProt)

Protein: Gap junction beta-2 protein
Function: Structural component of gap junctions. 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. Small molecules and ions diffuse from one cell to a neighboring cell via the central pore.
Subcellular location: Cell membrane; Cell junction, gap junction.
Associated conditions: Deafness, autosomal recessive, 1A (DFNB1A); Deafness, autosomal dominant, 3A (DFNA3A); Vohwinkel syndrome (VOWNKL); Keratoderma, palmoplantar, with deafness (PPKDFN); Keratitis-ichthyosis-deafness syndrome, autosomal dominant (KIDAD); Bart-Pumphrey syndrome (BAPS); Ichthyosis hystrix-like with deafness syndrome (HID syndrome).

Source: UniProtKB/Swiss-Prot P29033, release 2026_03, licensed CC BY 4.0. This is the protein’s normal biology, not evidence about post-drug syndromes; associated conditions are inherited disorders of the gene, not PFS, PSSD or PRSD.

Why its pathway is in the library

Gap-junction and ion-channel genes; no established post-drug-syndrome link — included for completeness of the panel.

Written for the whole sensory & ion channels family, not for GJB2 specifically.

Mentioned in 0 corpus records

No corpus record names GJB2 directly yet. It is in the library because it sits in a pathway the corpus tracks (Sensory & ion channels).

Also in sensory and ion channels

All 7 genes

Browse by family on the gene families page.

Gene summary

Source: NCBI Gene, accessed 2026-10-07.

Protein reference (UniProt)

Protein: Gap junction beta-2 protein
Function: Structural component of gap junctions. 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. Small molecules and ions diffuse from one cell to a neighboring cell via the central pore.
Subcellular location: Cell membrane; Cell junction, gap junction.
Associated conditions: Deafness, autosomal recessive, 1A (DFNB1A); Deafness, autosomal dominant, 3A (DFNA3A); Vohwinkel syndrome (VOWNKL); Keratoderma, palmoplantar, with deafness (PPKDFN); Keratitis-ichthyosis-deafness syndrome, autosomal dominant (KIDAD); Bart-Pumphrey syndrome (BAPS); Ichthyosis hystrix-like with deafness syndrome (HID syndrome).