Property Summary

NCBI Gene PubMed Count 58
PubMed Score 128.34
PubTator Score 105.76

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
osteosarcoma 1.171 3.5e-06
pancreatic ductal adenocarcinoma liver m... 1.150 1.9e-02
non-small cell lung cancer 2.067 4.2e-13
intraductal papillary-mucinous neoplasm ... 1.300 6.1e-03
colon cancer 1.800 1.7e-02
pancreatic cancer 1.600 9.8e-08
interstitial cystitis -1.200 1.5e-02
spina bifida -1.382 3.6e-02
ulcerative colitis 1.300 1.6e-03
ovarian cancer 1.500 4.6e-06

Gene RIF (44)

PMID Text
26251042 study suggests that Connexin-31 mutant proteins are un/misfolded to cause erythrokeratodermia variabilis likely via an AP-1-mediated mechanism and identifies a small molecule with therapeutic potential of the disease
26037344 Mutations in 12S rRNA, SLC26A4, GJB2 and GJB3 are highly associated with deafness.
25556823 identified dominant pathogenic missense mutation in the M4 transmembrane domain of GJB3; mutation led to the erythrokeratodermia variabilis (EKV) phenotype in the patient's family; results, combined with literature review, suggest dominant missense mutations outside the E2 domain in GJB3 are associated with EKV, and those within the E2 domain cause ADNSHL
24913888 The CX31 V174M mutant may have an effect on the formation and function of the gap junction, in nonsyndromic hearing loss.
23678955 In this study, we found no mutations of GJB3 in two Progressive symmetrical erythrokeratoderma families.
23638949 mutations prevalent in hearing loss patients
22681493 We report a missense mutation p.G45E in the GJB3 gene, which was responsible for Erythrokeratodermia variabilis in a Chinese family.
22617145 GJB3 and GJB6 genetic variants are associated with the pathogenicity of nonsyndromic sensorineural hearing loss.
22393412 Pathogenic connexin-31 forms constitutively active hemichannels to promote necrotic cell death
21950330 Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis.
21916817 A neonatal hearing screening program in Campania, Italy did not find any incidence of GJB6 or GJB3 mutations.
21198793 There were no mutations found in the GJB3 gene and the true pathogenesis of progressive symmetrical erythrokeratodermia remains unknown.
21055240 GJB3 gene mutations were not the main cause of hereditary nonsyndromic hearing loss in Uighur and Han people.
21055240 Observational study of gene-disease association. (HuGE Navigator)
20668687 Observational study of genetic testing. (HuGE Navigator)
20627047 Mutations in GJB3 and GJB2 might interact to produce deafness in a digenic mode of inheritance.
20627047 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20593197 Observational study of gene-disease association. (HuGE Navigator)
19814620 Observational study of gene-disease association. (HuGE Navigator)
19755382 endoplasmic reticulum stress leading to the unfolded protein response is the main mechanism of mutant Cx31-associated cell death.
19744334 Observational study of gene-disease association. (HuGE Navigator)
19558834 Observational study of gene-disease association. (HuGE Navigator)
19523148 Observational study of gene-disease association. (HuGE Navigator)
19254696 Observational study of gene-disease association. (HuGE Navigator)
19050930 Two different GJB3 mutations (N166S and A194T) occurring in compound heterozygosity with the 235delC and 299delAT of GJB2 were identified in three unrelated families (235delC/N166S, 235delC/A194T and 299delAT/A194T).
19027966 Observational study of gene-disease association. (HuGE Navigator)
18988928 Observational study of gene-disease association. (HuGE Navigator)
18809214 Observational study of gene-disease association. (HuGE Navigator)
18607988 The intent of this study was to investigate the prevalence of the point and digenic mutations including large deletions and duplications in the Cx26, 30, and 31 genes in a Swiss patient cohort with autosomal recessive nonsyndromic hearing impairment.
18338563 Some GJB2, GJB3, and GJB6 mutations occurred in deaf students.
18338563 Observational study of gene-disease association. (HuGE Navigator)
17672988 Observational study of gene-disease association. (HuGE Navigator)
16549784 provide an important first step in evaluating the pathogenesis of inherited human diseases associated with mutations in the gene for Cx31
16406239 Observational study of gene-disease association. (HuGE Navigator)
16297190 Not all clincally diagnosed inviduals with erythrokeratoderma variabilis harbor Cx31 disease-associated mutations.
16077902 In summary, disease-associated Cx31 mutants impair the formation of normal gap junctions at different levels.
15276679 Observational study of gene-disease association. (HuGE Navigator)
14583444 These results not only provide new insights into epidermal connexin synthesis and polymerization, but also allow a novel molecular explanation for the similarity of EKV phenotypes.
12702148 effects of sequence variants G12D and R32W on Cx31 biogenesis and gap junction activity
12630965 Observational study of genotype prevalence. (HuGE Navigator)
12630965 pathogenic mutations of CX31 are infrequent in sporadic non-syndromic hearing impairment
12176042 Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells
12165562 Connexin 31 mutation is associated with defective trafficking and cell death in skin disease
12019212 a homozygote mutation in the connexin 31 gene, found in a family that shows recessive inheritance of the disorder, thus providing the first molecular support for a recessive variant of erythrokeratodermia variabilis

AA Sequence

MDWKTLQALLSGVNKYSTAFGRIWLSVVFVFRVLVYVVAAERVWGDEQKDFDCNTKQPGCTNVCYDNYFP      1 - 70
ISNIRLWALQLIFVTCPSLLVILHVAYREERERRHRQKHGDQCAKLYDNAGKKHGGLWWTYLFSLIFKLI     71 - 140
IEFLFLYLLHTLWHGFNMPRLVQCANVAPCPNIVDCYIARPTEKKIFTYFMVGASAVCIVLTICELCYLI    141 - 210
CHRVLRGLHKDKPRGGCSPSSSASRASTCRCHHKLVEAGEVDPDPGNNKLQASAPNLTPI              211 - 270
//

Text Mined References (59)

PMID Year Title
26251042 2015 Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism.
26037344 2015 [Analysis of common mutations of deafness-related genes in 2725 newborns].
25556823 2015 The novel GJB3 mutation p.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermia variabilis.
24913888 2014 Mechanism of a novel missense mutation, p.V174M, of the human connexin31 (GJB3) in causing nonsyndromic hearing loss.
23678955 2013 Progressive symmetrical erythrokeratoderma: report of two Chinese families and evaluation for mutations in the loricrin, connexin 30.3 and connexin 31 genes.
23638949 2013 Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.
22681493 2012 A missense mutation in the GJB3 gene responsible for erythrokeratodermia variabilis in a Chinese family.
22617145 2013 Evaluation of the pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss.
22393412 2012 Pathogenic connexin-31 forms constitutively active hemichannels to promote necrotic cell death.
21950330 2012 Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis.
21916817 2011 Mutational analysis for GJB2, GJB6, and GJB3 genes in Campania within a universal neonatal hearing screening programme.
21198793 2011 Evidence for the absence of mutations at GJB3, GJB4 and LOR in progressive symmetrical erythrokeratodermia.
21055240 2010 [Study of mtDNA 12S rRNA A1555G, GJB2, GJB3 gene mutation in Uighur and Han people with hereditary nonsyndromic hearing loss in Xinjiang].
20668687 2010 Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice.
20627047 2010 [Sequence analysis of GJB3 in Chinese deafness population who carry one heterozygous GJB2 pathogenic mutation].
20593197 2010 Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation.
19814620 2009 GJB2 mutations in patients with nonsyndromic hearing loss from Croatia.
19755382 2009 EKV mutant connexin 31 associated cell death is mediated by ER stress.
19744334 2009 Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.
19558834 2009 [Etiologic analysis of severe to profound hearing loss patients from Chifeng city in Inner Mongolia].
19523148 2009 Analysis of gene polymorphisms associated with K ion circulation in the inner ear of patients susceptible and resistant to noise-induced hearing loss.
19283857 2009 Connexin mutations in Brazilian patients with skin disorders with or without hearing loss.
19254696 2009 Mutation in gap and tight junctions in patients with non-syndromic hearing loss.
19050930 2009 Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31.
19027966 2009 Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss.
18988928 2008 Genetic analysis of presbycusis by arrayed primer extension.
18809214 2008 Absence of GJB3 and GJB6 mutations in Moroccan familial and sporadic patients with autosomal recessive non-syndromic deafness.
18607988 2008 Mutation analysis of the Cx26, Cx30, and Cx31 genes in autosomal recessive nonsyndromic hearing impairment.
18338563 2008 [Mutation analysis of GJB2, GJB3 and GJB6 gene in deaf population from special educational school of Chifeng city].
17672988 2007 [The roles of connexin genes in sporadic hearing loss population].
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16549784 2006 Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness.
16406239 2006 Mutational analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in Tunisian patients with nonsyndromic hearing loss.
16341674 2005 Transcriptome analysis of human gastric cancer.
16297190 2005 Clinical and genetic heterogeneity of erythrokeratoderma variabilis.
16077902 2005 Intracellular distribution, assembly and effect of disease-associated connexin 31 mutants in HeLa cells.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15276679 2004 Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14583444 2003 Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis.
12702148 2003 Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro.
12630965 2003 Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12176042 2002 Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells.
12165562 2002 Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations.
12154091 2002 Molecular cloning, functional expression, and tissue distribution of a novel human gap junction-forming protein, connexin-31.9. Interaction with zona occludens protein-1.
12019212 2002 A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein.
11309368 2001 Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.
10798362 2000 The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.
10790215 2000 Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene.
10757647 2000 Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.
10594760 1999 Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis.
10587579 2000 Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss.
9843210 1998 Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.
9843209 1998 Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.
9704026 1998 Human gap junction protein connexin31: molecular cloning and expression analysis.
9126484 1997 Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p.
8035838 1994 Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families.