Property Summary

NCBI Gene PubMed Count 52
PubMed Score 130.17
PubTator Score 102.40

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
periodontitis -1.200 7.6e-29
adult high grade glioma -1.100 3.6e-04
psoriasis 1.700 2.3e-66

Gene RIF (36)

PMID Text
26683566 A novel missense GJA3 mutation that correlated with congenital cataract phenotype in a five-generation Chinese family.
26449341 The cataract related mutation N188T in human connexin46 revealed a critical role for residue N188 in the docking process of gap junction channels.
26018820 Taken together, in Jar cells, placental connexins 43 and 46 are regulated during periods of low oxygen in opposite manners
25959821 Glioblastoma cancer stem cells (CSCs) express Cx46, while Cx43 is predominantly expressed in non-CSCs. During differentiation, Cx46 is reduced, while Cx43 is increased, and targeting Cx46 compromises CSC maintenance
25635993 A novel missense mutation, c.428G>A (p.G143E), in the GJA3 gene, localized to the cytoplasmic loop, was suggested to be the genetic cause of congenital nuclear cataract, which further expands the gene mutation spectrum.
25549162 This study identified three mutations in three Chinese families with hereditary cataracts. Of the three mutations, two were novel (c.125 A > C in GJA3 and c.268 C > T in GJA3), one was previously reported (c.218 C > T in GJA8).
24772942 a GJA3 mutation in a Chinese family with congenital nuclear cataract
24728566 A novel GJA3 mutation (p.N55D) has been found in a Chinese family with congenital cataracts.
24319337 The crystallin beta cluster on chromosome 22, GJA3, and BFSP1 play a major role in maintaining lens transparency.
24019978 these results suggest that mutation of this highly conserved residue on the cytoplasmic loop domain of Cx46 enhances its interaction with the C-terminus, resulting in a reduction of gap junction channel function
23592915 A 1361 insertion of a cytosine mutation in the C-terminus of GJA3 is found to be associated with autosomal dominant congenital coralliform cataract.
23374644 Suggest that Cx46 and Cx26 expression in breast cancer may improve the assessment of pathological response and refine intermediate prognostic subgroups of residual tumour classifications used after neoadjuvant chemotherapy.
23302783 Coexpression of mutant with wild-type Cx50 or Cx46 gives rise to hemichannels with distinct electrophysiological properties, suggesting that the mutant connexins form heteromeric channels with wild-type connexins.
22876138 A c.427G>A transition in exon 2 of GJA3 co-segregated with the cataract in the family members and was not observed in 100 control patients.
22843197 the negatively charged aspartic acid residue at the third position of the N-terminus of hCx46 could be involved in the determination of the degree of metabolite cell-to-cell coupling and is essential for the voltage sensitivity of the hCx46 hemichannels.
22825713 These data indicate that biophysical and structural studies are converging towards a view that the N-terminal half of the Cx protein contains the principal components of the pore and gating elements.
22550389 A novel mutation (p.F206I) in the fourth transmembrane domain of connexin 46 is associated with autosomal dominant congenital cataract in a three-generation Chinese family.
22312188 Novel missense mutation in the second extracellular loop of the GJA3 protein was detected, causing coral-like opacities in a Chinese family.
21897748 A recurrent missense mutation in GJA3 is associated with autosomal dominant cataract linked to chromosome 13q in a 5-generation Caucasian American family.
21681855 Cx46G2D of GJA3 is a novel mutation that was identified in a Chinese family with autosomal dominant nuclear pulverulent and posterior polar congenital cataracts.
21647269 A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree.
21606502 Cx43 and Cx46 have novel functions in regulating each other's expression and turnover in a reciprocal manner in addition to their conventional roles as gap junction proteins in lens cells.
21552498 A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.
21386927 The genetic mutation in GJA3, GJA8, and LIM2 may slightly contribute to the development of age-related cataracts.
21031021 Two new mutations, one in GJA3 and the other in CRYBB2, were identified co-segregating along with the respective cataract phenotype within the families that were not seen in healthy controls from India or Germany.
20431721 Novel missense mutation identified in first extracellular loop of connexin 46; this expands mutation spectrum of GJA3 in association with congenital cataract.
20013805 Upregulation of connexin46 is associated with breast tumors.
17893674 Novel mutation (R33L) in the GJA3 associated with finely granular embryonal cataract.
17615540 This is a novel mutation identified in the second transmembrane domain of the connexin 46.
17492548 Particular form of Pelizaeus-Merzbacher disease involves mutation in connexin 46.
16971895 The congenital "ant-egg" cataract phenotype is caused by a L11S mutation in connexin46 (Cx46) located in the signal peptide domain.
16885921 This is the first report of a mutation in GJA3 causing autosomal dominant congenital cataract (ADCC) in this ethnic group. It is also the first reported cataract-causing mutation in the NH2-terminal region of the Cx46 protein.
16254549 We conclude that connexin 46 mutations might account for as much as 3.3% of the hereditary congenital cataract in the Indian population.
15286166 A novel CX46 missense mutation indetified in a large autosomal dominant congenital cataract Australian pedigree.
15208569 The present study has identified a fifth mutation in GJA3, rendering this connexin gene one of the most common non-crystallin genes associated with autosomal dominant cataracts in humans.
14627959 This finding is the first report of a mutation in the first transmembrane region of GJA3.

AA Sequence

MGDWSFLGRLLENAQEHSTVIGKVWLTVLFIFRILVLGAAAEDVWGDEQSDFTCNTQQPGCENVCYDRAF      1 - 70
PISHIRFWALQIIFVSTPTLIYLGHVLHIVRMEEKKKEREEEEQLKRESPSPKEPPQDNPSSRDDRGRVR     71 - 140
MAGALLRTYVFNIIFKTLFEVGFIAGQYFLYGFELKPLYRCDRWPCPNTVDCFISRPTEKTIFIIFMLAV    141 - 210
ACASLLLNMLEIYHLGWKKLKQGVTSRLGPDASEAPLGTADPPPLPPSSRPPAVAIGFPPYYAHTAAPLG    211 - 280
QARAVGYPGAPPPAADFKLLALTEARGKGQSAKLYNGHHHLLMTEQNWANQAAERQPPALKAYPAASTPA    281 - 350
APSPVGSSSPPLAHEAEAGAAPLLLDGSGSSLEGSALAGTPEEEEQAVTTAAQMHQPPLPLGDPGRASKA    351 - 420
SRASSGRARPEDLAI                                                           421 - 435
//

Text Mined References (54)

PMID Year Title
26683566 2016 Identification of a GJA3 Mutation in a Large Family with Bilateral Congenital Cataract.
26449341 2016 The cataract related mutation N188T in human connexin46 (hCx46) revealed a critical role for residue N188 in the docking process of gap junction channels.
26018820 2015 Oxygen Sensitivity of Placental Trophoblast Connexins 43 and 46: A Role in Preeclampsia?
25959821 2015 Differential connexin function enhances self-renewal in glioblastoma.
25635993 2015 Identification of a novel GJA3 mutation in congenital nuclear cataract.
25549162 2015 Mutation analysis in Chinese families with autosomal dominant hereditary cataracts.
24772942 2013 Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing.
24728566 2014 Identification of a novel mutation of the gene for gap junction protein ?3 (GJA3) in a Chinese family with congenital cataract.
24319337 2013 Molecular and structural analysis of genetic variations in congenital cataract.
24019978 2013 Cataract-causing mutation of human connexin 46 impairs gap junction, but increases hemichannel function and cell death.
23592915 2013 A novel insertional mutation in the connexin 46 (gap junction alpha 3) gene associated with autosomal dominant congenital cataract in a Chinese family.
23374644 2013 The potential prognostic value of connexin 26 and 46 expression in neoadjuvant-treated breast cancer.
23302783 2013 Properties of two cataract-associated mutations located in the NH2 terminus of connexin 46.
22876138 2012 A novel mutation in GJA3 associated with congenital Coppock-like cataract in a large Chinese family.
22864933 2012 Identification of novel germline polymorphisms governing capecitabine sensitivity.
22843197 2012 Cataract-associated D3Y mutation of human connexin46 (hCx46) increases the dye coupling of gap junction channels and suppresses the voltage sensitivity of hemichannels.
22825713 2012 The N-terminal half of the connexin protein contains the core elements of the pore and voltage gates.
22550389 2012 A novel p.F206I mutation in Cx46 associated with autosomal dominant congenital cataract.
22312188 2012 Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family.
21897748 2011 A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13q.
21681855 2011 A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family.
21647269 2011 A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree.
21606502 2011 Investigation of the reciprocal relationship between the expression of two gap junction connexin proteins, connexin46 and connexin43.
21552498 2011 A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.
21386927 2011 Genetic variations in GJA3, GJA8, LIM2, and age-related cataract in the Chinese population: a mutation screening study.
21031021 2010 Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms.
20431721 2010 Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3).
20013805 2010 A novel role of gap junction connexin46 protein to protect breast tumors from hypoxia.
17893674 2007 A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family.
17615540 2007 A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene.
17492548 2007 [Pelizaeus-Merzbacher-caused diseases in Connexin 46 mutation: a rare form of leukodystrophy].
16971895 2006 The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46.
16885921 2006 A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family.
16254549 2005 Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population.
16234473 2005 Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15467523 2004 Differential phosphorylation of connexin46 and connexin50 by H2O2 activation of protein kinase Cgamma.
15448617 2004 A novel connexin46 (GJA3) mutation in autosomal dominant congenital nuclear pulverulent cataract.
15286166 2004 A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance.
15208569 2004 A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q.
15057823 2004 The DNA sequence and analysis of human chromosome 13.
14627959 2003 A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract.
12808044 2003 Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11980479 2002 Connexin family members target to lipid raft domains and interact with caveolin-1.
11739633 2001 Multimeric connexin interactions prior to the trans-Golgi network.
10746562 2000 Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3).
10205266 1999 Connexin46 mutations in autosomal dominant congenital cataract.
9664032 1998 Assembly of connexins and MP26 in lens fiber plasma membranes studied by SDS-fracture immunolabeling.
9413992 1997 Disruption of alpha3 connexin gene leads to proteolysis and cataractogenesis in mice.
9199569 1997 A new locus for dominant "zonular pulverulent" cataract, on chromosome 13.
7342922 1981 Morning Glory Syndrome: a report of two cases.
1964417 1990 Six genes of the human connexin gene family coding for gap junctional proteins are assigned to four different human chromosomes.
1849321 1991 Distribution of genes for gap junction membrane channel proteins on human and mouse chromosomes.