GJB3, gap junction protein beta 3, 2707

N. diseases: 79; N. variants: 16
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315319
rs74315319
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C0018780
Disease:
Hearing Loss, High-Frequency 		0.010 GeneticVariation BEFREE Mutations in GJB3 were originally shown to underlie an autosomal dominant form of non-syndromic deafness in Chinese patients and the c.538C>T (p.R180*) variants caused high-frequency hearing loss. 29106878 2017
dbSNP: rs148388884
rs148388884
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C0339789
Disease:
Congenital deafness 		0.010 GeneticVariation BEFREE The p.V37I (c.109G>A) mutation in the GJB2 gene is the common frequent cause of congenital deafness; however, its pathogenicity is debated. 27350192 2016
dbSNP: rs749431664
rs749431664
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C3711374
Disease:
Nonsyndromic Deafness 		0.010 GeneticVariation BEFREE Mechanism of a novel missense mutation, p.V174M, of the human connexin31 (GJB3) in causing nonsyndromic hearing loss. 24913888 2014
dbSNP: rs74315316
rs74315316
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C0031117
Disease:
Peripheral Neuropathy 		0.010 GeneticVariation BEFREE The Cx31 mutants (R42P)Cx31, (C86S)Cx31 and (G12D)Cx31 are associated with EKV and the mutant (66delD)Cx31 with peripheral neuropathy and hearing loss, however the mechanisms of pathogenesis remain to be elucidated. 19755382 2009
dbSNP: rs74315316
rs74315316
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4721453
Disease:
Peripheral Nervous System Diseases 		0.010 GeneticVariation BEFREE The Cx31 mutants (R42P)Cx31, (C86S)Cx31 and (G12D)Cx31 are associated with EKV and the mutant (66delD)Cx31 with peripheral neuropathy and hearing loss, however the mechanisms of pathogenesis remain to be elucidated. 19755382 2009
dbSNP: rs74315317
rs74315317
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C0031117
Disease:
Peripheral Neuropathy 		0.010 GeneticVariation BEFREE The Cx31 mutants (R42P)Cx31, (C86S)Cx31 and (G12D)Cx31 are associated with EKV and the mutant (66delD)Cx31 with peripheral neuropathy and hearing loss, however the mechanisms of pathogenesis remain to be elucidated. 19755382 2009
dbSNP: rs74315317
rs74315317
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4721453
Disease:
Peripheral Nervous System Diseases 		0.010 GeneticVariation BEFREE The Cx31 mutants (R42P)Cx31, (C86S)Cx31 and (G12D)Cx31 are associated with EKV and the mutant (66delD)Cx31 with peripheral neuropathy and hearing loss, however the mechanisms of pathogenesis remain to be elucidated. 19755382 2009
dbSNP: rs74315321
rs74315321
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C0031117
Disease:
Peripheral Neuropathy 		0.010 GeneticVariation BEFREE The Cx31 mutants (R42P)Cx31, (C86S)Cx31 and (G12D)Cx31 are associated with EKV and the mutant (66delD)Cx31 with peripheral neuropathy and hearing loss, however the mechanisms of pathogenesis remain to be elucidated. 19755382 2009
dbSNP: rs74315321
rs74315321
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4721453
Disease:
Peripheral Nervous System Diseases 		0.010 GeneticVariation BEFREE The Cx31 mutants (R42P)Cx31, (C86S)Cx31 and (G12D)Cx31 are associated with EKV and the mutant (66delD)Cx31 with peripheral neuropathy and hearing loss, however the mechanisms of pathogenesis remain to be elucidated. 19755382 2009
dbSNP: rs28937583
rs28937583
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C0265961
Disease:
Erythrokeratodermia variabilis 		0.010 GeneticVariation BEFREE The fluorescent localization assay showed no gap junction plaque formation in the cells expressing the recessive EKV-associated mutant (L34P) and four hearing impairment-associated mutants (66delD, 141delI, R180X and E183K), significantly reduced plaque formation in the cells with five EKV-associated dominant mutants (G12R, G12D, R42P, C86S and F137L) and no obvious change in the cells with two other mutants (I141V and 652del12). 16077902 2005
dbSNP: rs28937583
rs28937583
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C1384666
Disease:
hearing impairment 		0.010 GeneticVariation BEFREE The fluorescent localization assay showed no gap junction plaque formation in the cells expressing the recessive EKV-associated mutant (L34P) and four hearing impairment-associated mutants (66delD, 141delI, R180X and E183K), significantly reduced plaque formation in the cells with five EKV-associated dominant mutants (G12R, G12D, R42P, C86S and F137L) and no obvious change in the cells with two other mutants (I141V and 652del12). 16077902 2005
dbSNP: rs74315315
rs74315315
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C0265961
Disease:
Erythrokeratodermia variabilis 		0.010 GeneticVariation BEFREE Additionally, the expression of five EKV-associated dominant mutants (G12R, G12D, R42P, C86S and F137L) caused cell death in HeLa cells. 16077902 2005
dbSNP: rs74315318
rs74315318
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C0265961
Disease:
Erythrokeratodermia variabilis 		0.010 GeneticVariation BEFREE The fluorescent localization assay showed no gap junction plaque formation in the cells expressing the recessive EKV-associated mutant (L34P) and four hearing impairment-associated mutants (66delD, 141delI, R180X and E183K), significantly reduced plaque formation in the cells with five EKV-associated dominant mutants (G12R, G12D, R42P, C86S and F137L) and no obvious change in the cells with two other mutants (I141V and 652del12). 16077902 2005
dbSNP: rs74315318
rs74315318
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C1384666
Disease:
hearing impairment 		0.010 GeneticVariation BEFREE The fluorescent localization assay showed no gap junction plaque formation in the cells expressing the recessive EKV-associated mutant (L34P) and four hearing impairment-associated mutants (66delD, 141delI, R180X and E183K), significantly reduced plaque formation in the cells with five EKV-associated dominant mutants (G12R, G12D, R42P, C86S and F137L) and no obvious change in the cells with two other mutants (I141V and 652del12). 16077902 2005
dbSNP: rs1064794946
rs1064794946
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C0162361
Disease:
Hidrotic Ectodermal Dysplasia 		0.010 GeneticVariation BEFREE Nevertheless, screening of GJB6 revealed a heterozygous missense mutation (V37E) predicted to alter sequence and charge of the first transmembrane helix of Cx30, which was previously implicated in Clouston syndrome (Smith et al, 2002). 15140211 2004
dbSNP: rs1064794946
rs1064794946
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C0175694
Disease:
Smith-Lemli-Opitz Syndrome 		0.010 GeneticVariation BEFREE Nevertheless, screening of GJB6 revealed a heterozygous missense mutation (V37E) predicted to alter sequence and charge of the first transmembrane helix of Cx30, which was previously implicated in Clouston syndrome (Smith et al, 2002). 15140211 2004
dbSNP: rs74315316
rs74315316
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C0265961
Disease:
Erythrokeratodermia variabilis 		0.010 GeneticVariation BEFREE These mutations include G12D, which replaces a conserved glycine residue in the amino-terminus of Cx31 and is associated with a severe EKV phenotype. 12702148 2003
dbSNP: rs74315321
rs74315321
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C0265961
Disease:
Erythrokeratodermia variabilis 		0.010 GeneticVariation BEFREE Immunostaining of a biopsy taken from an EKV patient harbouring the R42P mutation revealed sparse epidermal staining of Cx31, and, when present, it had a perinuclear localization. 12165562 2002
dbSNP: rs74315321
rs74315321
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C0432330
Disease:
Erythrokeratoderma 		0.010 GeneticVariation BEFREE Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. 10594760 1999
dbSNP: rs74315319
rs74315319
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C1384666
Disease:
hearing impairment 		0.020 GeneticVariation BEFREE This study investigated the relationship between the GJB3 c.538C>T variant and hearing phenotype in Chinese to assist with risk assessment and genetic counseling for hearing loss patients and their families. 29106878 2017
dbSNP: rs74315319
rs74315319
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C1384666
Disease:
hearing impairment 		0.020 GeneticVariation BEFREE The fluorescent localization assay showed no gap junction plaque formation in the cells expressing the recessive EKV-associated mutant (L34P) and four hearing impairment-associated mutants (66delD, 141delI, R180X and E183K), significantly reduced plaque formation in the cells with five EKV-associated dominant mutants (G12R, G12D, R42P, C86S and F137L) and no obvious change in the cells with two other mutants (I141V and 652del12). 16077902 2005
dbSNP: rs2359644
rs2359644
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C0040420
Disease:
Tonometry 		C 0.700 GeneticVariation GWASCAT Genome-wide analysis identified 17 new loci influencing intraocular pressure in Chinese population. 30591961 2019
dbSNP: rs74315320
rs74315320
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C2675236
Disease:
Deafness, Autosomal Dominant 2B 		0.700 GeneticVariation UNIPROT Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. 9843210 1998
dbSNP: rs121908851
rs121908851
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C2673761
Disease:
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder) 		G 0.700 CausalMutation CLINVAR
dbSNP: rs144964568
rs144964568
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C3711374
Disease:
Nonsyndromic Deafness 		T 0.700 GeneticVariation CLINVAR