GJB2

Also known as CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1

Gap junction beta-2 protein (GJB2), also known as connexin 26 (Cx26) — is a protein that in humans is encoded by the GJB2 gene.

Gene data

GJB2

Name: gap junction protein beta 2
Type: protein-coding
Position: 20,187,463–20,192,980 (−)
Aliases: BAPS, CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK
Ensembl: ENSG00000165474
RefSeq RNA: NM_001445918.1, NM_001445919.1, NM_004004.6, XM_011535049.3, XM_054374463.1
RefSeq protein: NP_001432847.1, NP_001432848.1, NP_003995.2, XP_011533351.1, XP_054230438.1

This gene 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. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. Connexins form hexameric channels in the plasma membrane which regulate passage of ions and small molecules between the cell and its environment or, when joined with another cell, form a dodecameric intercellular gap junction channel. The connexin proteins are grouped into alpha, beta, and gamma subfamilies. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Mar 2026].