GJB2 Chromosome 13
Gap junction protein beta 2
Upload your DNA to see your personal genotypes for variants in GJB2.
What This Gene Does
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]
Gene Info
Gene Group
Gap junction proteins
Locus Type
gene with protein product
Location
13q12.11
Ensembl
ENSG00000165474
Associated Conditions (53)
Autosomal recessive nonsyndromic hearing loss 1A
Hearing impairment
Rare genetic deafness
Hearing loss
Nonsyndromic genetic hearing loss
GJB2-related disorder
7 conditions
Mutilating keratoderma
Sensorineural hearing loss disorder
Autosomal dominant nonsyndromic hearing loss 3A
Ichthyosis
hystrix-like
with hearing loss
8 conditions
Nonsyndromic Deafness
nonsyndromic sensorineural hearing loss
Knuckle pads
deafness AND leukonychia syndrome
Palmoplantar keratoderma-deafness syndrome
Clear cell carcinoma of kidney
+33 more conditions
Key Variants
RS1036073348
Conflicting classifications of pathogenicity
Health Risk
RS104894398
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 1A, Hearing impairment, Rare genetic deafness
Health Risk
RS104894403
Conflicting classifications of pathogenicity
Hearing loss, Mutilating keratoderma, Sensorineural hearing loss disorder
Health Risk
RS1057517976
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A
Health Risk
RS111033196
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A
Health Risk
RS111033203
Conflicting classifications of pathogenicity
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 1A, 7 conditions
Health Risk
RS111033222
Conflicting classifications of pathogenicity
Ichthyosis, hystrix-like, with hearing loss
Health Risk
RS111033327
Conflicting classifications of pathogenicity
Ichthyosis, hystrix-like, with hearing loss
Health Risk
RS111033360
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 1A, 8 conditions, Autosomal recessive nonsyndromic hearing loss 1A
Health Risk
RS1250849257
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A
Health Risk
RS1268045311
Conflicting classifications of pathogenicity
Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
Health Risk
RS1275901105
Conflicting classifications of pathogenicity
Health Risk
All Variants (226)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894407 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 3A, Hearing impairment, Autosomal recessive nonsyndromic hearing loss 1A |
| RS104894409 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 1A, Hearing impairment, Rare genetic deafness |
| RS104894410 | Health Risk | Pathogenic | Knuckle pads, deafness AND leukonychia syndrome, Palmoplantar keratoderma-deafness syndrome |
| RS104894412 | Health Risk | Pathogenic | Knuckle pads, deafness AND leukonychia syndrome, Knuckle pads |
| RS104894413 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 3A, Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 1A |
| RS1057517508 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 3A, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A |
| RS1057517519 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A, Hearing loss |
| RS111033204 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 1A, Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 1B |
| RS111033296 | Health Risk | Pathogenic | Rare genetic deafness, Nonsyndromic genetic hearing loss, Autosomal recessive nonsyndromic hearing loss 1A |
| RS111033297 | Health Risk | Pathogenic | Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 1A, Hearing loss |
| RS1165937383 | Health Risk | Pathogenic | — |
| RS1190349163 | Health Risk | Pathogenic | — |
| RS1195692356 | Health Risk | Pathogenic | — |
| RS121912968 | Health Risk | Pathogenic | Palmoplantar keratoderma-deafness syndrome, Palmoplantar keratoderma-deafness syndrome |
| RS1291519904 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A, nonsyndromic sensorineural hearing loss |
| RS143343083 | Health Risk | Pathogenic | Hearing impairment, Autosomal recessive nonsyndromic hearing loss 1A, Rare genetic deafness |
| RS1441862662 | Health Risk | Pathogenic | — |
| RS1555341931 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A |
| RS1555341945 | Health Risk | Pathogenic | Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Porokeratotic adnexal ostial nevus, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome |
| RS1555341954 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A |
| RS1555341986 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A |
| RS1566528711 | Health Risk | Pathogenic | Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome |
| RS1593351503 | Health Risk | Pathogenic | Noonan syndrome 1, Noonan syndrome 1 |
| RS1959060696 | Health Risk | Pathogenic | Nonsyndromic genetic hearing loss, Autosomal recessive nonsyndromic hearing loss 1A, Nonsyndromic genetic hearing loss |
| RS1959062017 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A |
| RS2137307021 | Health Risk | Pathogenic | — |
| RS2137307128 | Health Risk | Pathogenic | — |
| RS2137308116 | Health Risk | Pathogenic | — |
| RS2137308372 | Health Risk | Pathogenic | — |
| RS2137308740 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A |
| RS2137308765 | Health Risk | Pathogenic | — |
| RS2137308791 | Health Risk | Pathogenic | — |
| RS2500249538 | Health Risk | Pathogenic | — |
| RS2500250149 | Health Risk | Pathogenic | — |
| RS2500250227 | Health Risk | Pathogenic | Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss |
| RS2500250786 | Health Risk | Pathogenic | — |
| RS2500250876 | Health Risk | Pathogenic | — |
| RS2500251103 | Health Risk | Pathogenic | — |
| RS2500252186 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A |
| RS2500252717 | Health Risk | Pathogenic | — |
| RS2500253846 | Health Risk | Pathogenic | Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss |
| RS28929485 | Health Risk | Pathogenic | Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome |
| RS28931593 | Health Risk | Pathogenic | Palmoplantar keratoderma-deafness syndrome, Autosomal dominant nonsyndromic hearing loss 3A, Rare genetic deafness |
| RS28931594 | Health Risk | Pathogenic | Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Ichthyosis, hystrix-like |
| RS371024165 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 1A, Rare genetic deafness, 7 conditions |
| RS371086981 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A, Nonsyndromic genetic hearing loss |
| RS374625633 | Health Risk | Pathogenic | — |
| RS375759781 | Health Risk | Pathogenic | Hearing loss, Autosomal recessive nonsyndromic hearing loss 1A, Hearing loss |
| RS397516873 | Health Risk | Pathogenic | Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A |
| RS397516874 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 1A, Rare genetic deafness, Hearing loss |