Connexin 26 (CX26)

KID; DFNA3; DFNB1; HID; NSRD1; PPK; GJB2; Gap Junction Protein Beta 2

SPN	V363
HGNC	4284
MGI	95720
PubMed	10983956
RGD	728891
UniProt	P29033
Wiki	GJB2

GJB2, is a human gene encoding for Gap junction protein, beta 2, 26kDa, or Connexin 26. Defects in this gene lead to the most common form of congenital deafness in developed countries, called DFNB1, also known as Connexin 26 deafness or GJB2-related deafness.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. Proteins, called connexins, purified from fractions of enriched gap junctions from different tissues differ. The connexins are designated by their molecular mass. Another system of nomenclature divides gap junction proteins into 2 categories, alpha and beta, according to sequence similarities at the nucleotide and amino acid levels.

Reference

"Transcriptional downregulation of gap-junction proteins blocks junctional communication in human mammary tumor cell lines."
J. Cell Biol. 118:1213-1221(1992) [PubMed] [Europe PMC] [Abstract]

"Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana."
Hum. Mutat. 18:84-85(2001) [PubMed] [Europe PMC] [Abstract]

"Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants."
Hum. Mutat. 23:206-207(2004) [PubMed] [Europe PMC] [Abstract]

"GJB2 mutations: passage through Iran."
Am. J. Med. Genet. A 133:132-137(2005) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and analysis of human chromosome 13."
Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment."
J. Med. Genet. 42:588-594(2005) [PubMed] [Europe PMC] [Abstract]

"Structure of the connexin 26 gap junction channel at 3.5 A resolution."
Nature 458:597-602(2009) [PubMed] [Europe PMC] [Abstract]

"Connexin 26 mutations in hereditary non-syndromic sensorineural deafness."
Nature 387:80-83(1997) [PubMed] [Europe PMC] [Abstract]

"Connexin mutations and hearing loss."
Nature 391:32-32(1998) [PubMed] [Europe PMC] [Abstract]

"Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations."
Hum. Mol. Genet. 6:2163-2172(1997) [PubMed] [Europe PMC] [Abstract]

"Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene."
Hum. Mol. Genet. 6:2173-2177(1997) [PubMed] [Europe PMC] [Abstract]

"Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss."
Am. J. Hum. Genet. 62:792-799(1998) [PubMed] [Europe PMC] [Abstract]

"Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma."
Hum. Genet. 103:393-399(1998) [PubMed] [Europe PMC] [Abstract]

"Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss."
Hum. Mutat. 11:387-394(1998) [PubMed] [Europe PMC] [Abstract]

"Connexin 26 gene linked to a dominant deafness."
Nature 393:319-320(1998) [PubMed] [Europe PMC] [Abstract]

"Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa."
N. Engl. J. Med. 338:548-550(1998) [PubMed] [Europe PMC] [Abstract]

"A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families."
Hum. Mol. Genet. 8:1237-1243(1999) [PubMed] [Europe PMC] [Abstract]

"Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population."
Am. J. Med. Genet. 90:141-145(2000) [PubMed] [Europe PMC] [Abstract]

"Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family."
Eur. J. Hum. Genet. 8:141-144(2000) [PubMed] [Europe PMC] [Abstract]

"High frequency hearing loss correlated with mutations in the GJB2 gene."
Hum. Genet. 106:399-405(2000) [PubMed] [Europe PMC] [Abstract]

"A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)."
J. Med. Genet. 37:50-51(2000) [PubMed] [Europe PMC] [Abstract]

"A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss."
J. Med. Genet. 37:368-370(2000) [PubMed] [Europe PMC] [Abstract]

"Sensorineural hearing loss and the incidence of Cx26 mutations in Austria."
Eur. J. Hum. Genet. 9:226-230(2001) [PubMed] [Europe PMC] [Abstract]

"Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome."
Am. J. Hum. Genet. 70:1341-1348(2002) [PubMed] [Europe PMC] [Abstract]

"Exploring the clinical and epidemiological complexity of GJB2-linked deafness."
Am. J. Med. Genet. 112:38-45(2002) [PubMed] [Europe PMC] [Abstract]

"HID and KID syndromes are associated with the same connexin 26 mutation."
Br. J. Dermatol. 146:938-942(2002) [PubMed] [Europe PMC] [Abstract]

"Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss."
Clin. Genet. 61:459-464(2002) [PubMed] [Europe PMC] [Abstract]

"The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family."
Clin. Genet. 62:306-309(2002) [PubMed] [Europe PMC] [Abstract]

"De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome."
Am. J. Med. Genet. A 117:89-91(2003) [PubMed] [Europe PMC] [Abstract]

"Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome."
Br. J. Dermatol. 148:649-653(2003) [PubMed] [Europe PMC] [Abstract]

"A novel dominant missense mutation -- D179N -- in the GJB2 gene (connexin 26) associated with non-syndromic hearing loss."
Clin. Genet. 63:516-521(2003) [PubMed] [Europe PMC] [Abstract]

"GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation."
Hum. Genet. 112:329-333(2003) [PubMed] [Europe PMC] [Abstract]

"Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30."
Hum. Mol. Genet. 12:805-812(2003) [PubMed] [Europe PMC] [Abstract]

"Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India."
J. Med. Genet. 40:E68-E68(2003) [PubMed] [Europe PMC] [Abstract]

"Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene."
Eur. J. Hum. Genet. 12:279-284(2004) [PubMed] [Europe PMC] [Abstract]

"Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2."
J. Invest. Dermatol. 123:856-863(2004) [PubMed] [Europe PMC] [Abstract]

"G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome."
Am. J. Med. Genet. A 136:282-284(2005) [PubMed] [Europe PMC] [Abstract]

"Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss."
Clin. Genet. 68:161-166(2005) [PubMed] [Europe PMC] [Abstract]

"Mutation analysis of the GJB2 (connexin 26) gene in Egypt."
Hum. Mutat. 26:60-61(2005) [PubMed] [Europe PMC] [Abstract]

"Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness."
Nat. Cell Biol. 7:63-69(2005) [PubMed] [Europe PMC] [Abstract]

"Pathogenetic role of the deafness-related M34T mutation of Cx26."
Hum. Mol. Genet. 15:2569-2587(2006) [PubMed] [Europe PMC] [Abstract]

"M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance."
Am. J. Med. Genet. A 143:2534-2543(2007) [PubMed] [Europe PMC] [Abstract]

"A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort."
Genet. Med. 9:413-426(2007) [PubMed] [Europe PMC] [Abstract]

"A novel hearing-loss-related mutation occurring in the GJB2 basal promoter."
J. Med. Genet. 44:721-725(2007) [PubMed] [Europe PMC] [Abstract]

"A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness."
J. Med. Genet. 45:161-166(2008) [PubMed] [Europe PMC] [Abstract]

"Connexin mutations in Brazilian patients with skin disorders with or without hearing loss."
Am. J. Med. Genet. A 149:681-684(2009) [PubMed] [Europe PMC] [Abstract]

"New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma."
Am. J. Med. Genet. A 149:685-688(2009) [PubMed] [Europe PMC] [Abstract]

"Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss."
Br. J. Dermatol. 161:452-455(2009) [PubMed] [Europe PMC] [Abstract]

"Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss."
Hum. Mutat. 30:E716-E727(2009) [PubMed] [Europe PMC] [Abstract]

"Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss."
Gene 525:1-4(2013) [PubMed] [Europe PMC] [Abstract]