Gene Information
gap junction protein beta 2 [Source:HGNC Symbol;Acc:HGNC:4284]
GJB2 variants are associated with 7 diseases including Bart-Pumphrey syndrome and autosomal dominant nonsyndromic hearing loss and 5 others, with 75 documented clinical phenotypes.
The GJB2 gene is associated with 7 medical conditions, including:
Bart-Pumphrey syndrome
MONDO:0007866
autosomal dominant nonsyndromic hearing loss
MONDO:0019587
hearing loss, autosomal recessive
MONDO:0019588
keratoderma hereditarium mutilans
MONDO:0007422
palmoplantar keratoderma-deafness syndrome
MONDO:0007852
KID syndrome
MONDO:0018781
porokeratotic eccrine ostial and dermal duct nevus
MONDO:0015635
Research has identified 75 phenotypic features associated with GJB2 variants:
Blindness
HP:0000618
Sparse eyelashes
HP:0000653
Recurrent bacterial skin infections
HP:0005406
Palmoplantar keratoderma
HP:0000982
Digenic inheritance
HP:0010984
Mixed hearing impairment
HP:0000410
Punctate keratitis
HP:0011859
Autosomal dominant inheritance
HP:0000006
Hypohidrosis
HP:0000966
Absent eyelashes
HP:0000561
Scarring alopecia of scalp
HP:0004552
Hearing impairment
HP:0000365
Amniotic constriction ring
HP:0009775
Congenital onset
HP:0003577
Cobblestone-like hyperkeratosis
HP:0031288
ClinVar contains 10 variants associated with GJB2. Below are some notable variants:
NM_004004.6(GJB2):c.199C>T (p.His67Tyr)
Uncertain significanceVCV004088074
Review: criteria provided, single submitter
GRCh37/hg19 13q12.11(chr13:19748003-22275574)x1
PathogenicVCV004083504
Review: criteria provided, single submitter
NC_000013.11:g.20192985C>T
Uncertain significanceVCV004083250
Review: criteria provided, single submitter
NM_004004.6(GJB2):c.192C>A (p.Cys64Ter)
PathogenicVCV004079327
Review: criteria provided, single submitter
NM_004004.6(GJB2):c.97A>C (p.Ile33Leu)
Uncertain significanceVCV004076706
Review: criteria provided, single submitter
There are 616 publications about GJB2 indexed in PubMed. Below are some recent papers:
Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns.
Hao C, Hu X, Guo R
PMID: 41238831
•
2025 Nov 14
•
Commun Med (Lond)
[Audiological characterization of the GJB2 gene c.109G>A (p.V37I) hotspot variant during childhood and comparison between family members].
Zheng Z, Xue J, Ding L
PMID: 41230583
•
2025 Sep 10
•
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Characterizing the spectrum and clinical impact of GJB2 mutations in patients with hearing loss: Insights into genetic variability and phenotypic outcomes.
Akhbari E, Salehi R, Tafrihi M
PMID: 41205492
•
2025 Nov 4
•
Int J Pediatr Otorhinolaryngol
Integrating newborn genetic screening with traditional screening to improve newborn screening.
Men S, Wang Z, Liu S
PMID: 41198170
•
2025 Nov 3
•
J Matern Fetal Neonatal Med
Combined hearing screening and genetic screening of deafness among Sanya newborns in Hainan Province.
Chen L, Cai T, Zeng H
PMID: 41183462
•
2025 Oct 31
•
Int J Pediatr Otorhinolaryngol
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Last updated: 11/20/2025