GJA3, gap junction protein alpha 3, 2700

N. diseases: 40; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0086543
Disease: Cataract
Cataract
0.100 Biomarker disease BEFREE Mutations in connexin50 (Cx50) and connexin46 (Cx46) cause cataracts. 31117126 2019
CUI: C0086543
Disease: Cataract
Cataract
0.100 Biomarker disease BEFREE Nitric oxide (NO) is a key element in non-genetic cataract formation and Cx46 hemichannels have been shown to be sensitive to NO. 30797972 2019
CUI: C0086543
Disease: Cataract
Cataract
0.100 GeneticVariation disease BEFREE 'Hot spots' of genetic mutations linked to hereditary cataract formation map to the core structural-functional elements identified in Cx46/50, suggesting explanations for many of the disease-causing effects. 30542154 2018
CUI: C0086543
Disease: Cataract
Cataract
0.100 GeneticVariation disease BEFREE Cataract-associated connexin 46 mutation alters its interaction with calmodulin and function of hemichannels. 29298900 2018
CUI: C0086543
Disease: Cataract
Cataract
0.100 GeneticVariation disease BEFREE A novel cytosine insertion at position 1195 of CX46 cDNA (c.1194_1195ins C) was found in the samples of 5 tested cataract patients but not in the unaffected 2 individuals nor in normal controls, which resulted in 30 amino acids more extension in CX46C-terminus (cx46fs400) compared with the wild-type CX46. 28546921 2017
CUI: C0086543
Disease: Cataract
Cataract
0.100 GeneticVariation disease BEFREE Such hereditary disorders include nonsyndromic or syndromic deafness (Cx26, Cx30), Charcot Marie Tooth disease (Cx32), occulodentodigital dysplasia and cardiopathies (Cx43), and cataracts (Cx46, Cx50). 27228968 2016
CUI: C0086543
Disease: Cataract
Cataract
0.100 GeneticVariation disease BEFREE Properties of two cataract-associated mutations located in the NH2 terminus of connexin 46. 23302783 2013
CUI: C0086543
Disease: Cataract
Cataract
0.100 GeneticVariation disease BEFREE These changes include a homozygous missense change of c.649G>A (Val196Met) in GJA8/connexin 50 (Cx50) in a family with autosomal recessive cataract, two heterozygous missense changes, c.658C>T (Pro199Ser) in GJA8/Cx50 and c.589C>T (Pro197Ser) in GJA3/connexin 46 (Cx46) in two separate families with autosomal dominant cataract, and a silent change ( c.84G>A/p.Val28Val, predicted to result in the creation of a new potential branch point) in GJA8 one family with an autosomal dominant inheritance of cataract. 23734083 2013
CUI: C0086543
Disease: Cataract
Cataract
0.100 GeneticVariation disease BEFREE These findings imply that the Gja8(R205G) mutation differentially impairs the functions of Cx50 and Cx46 to cause cataracts, small lenses and microphthalmia. 23300808 2012
CUI: C0086543
Disease: Cataract
Cataract
0.100 GeneticVariation disease BEFREE Mutations in Cx50 and Cx46 correlate with cataracts, but the functional relationship between the mutations and cataract formation is not always clear. 22843197 2012
CUI: C0086543
Disease: Cataract
Cataract
0.100 GeneticVariation disease BEFREE Direct sequencing of the candidate gene GJA3 (gap junction protein alpha-3) revealed a c.427G>A transition in exon 2 of GJA3 that co-segregated with the cataract in the family members and was not observed in 100 control patients. 22876138 2012
CUI: C0086543
Disease: Cataract
Cataract
0.100 GeneticVariation disease BEFREE Wild type (wt) and mutant Cx46 plasmids were transfected into HeLa cells to examine the molecular basis of cataract formation. 21681855 2011
CUI: C0086543
Disease: Cataract
Cataract
0.100 GeneticVariation disease BEFREE We have genetically tested whether enhanced lens gap junction communication, provided by increased α3 connexin (Cx46) proteins expressed from α8(Kiα3) knock-in alleles in Gja8tm1(Gja3)Tww mice, could prevent nuclear cataracts caused by the γB-crystallin S11R mutation in CrygbS11R/S11R mice. 20844585 2010
CUI: C0086543
Disease: Cataract
Cataract
0.100 GeneticVariation disease BEFREE Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms. 21031021 2010
CUI: C0086543
Disease: Cataract
Cataract
0.100 GeneticVariation disease LHGDN These findings expand the mutation spectrum of GJA3 in association with congenital cataract. 17893674 2007
CUI: C0086543
Disease: Cataract
Cataract
0.100 GeneticVariation disease BEFREE The present study describes a novel mutation (R33L) in the GJA3 associated with finely granular embryonal cataract. 17893674 2007
CUI: C0086543
Disease: Cataract
Cataract
0.100 GeneticVariation disease BEFREE A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene. 17615540 2007
CUI: C0086543
Disease: Cataract
Cataract
0.100 GeneticVariation disease LHGDN It is also the first reported cataract-causing mutation in the NH2-terminal region of the Cx46 protein. 16885921 2006
CUI: C0086543
Disease: Cataract
Cataract
0.100 GeneticVariation disease BEFREE The congenital "ant-egg" cataract phenotype is caused by a L11S mutation in connexin46 (Cx46) located in the signal peptide domain. 16971895 2006
CUI: C0086543
Disease: Cataract
Cataract
0.100 GeneticVariation disease BEFREE It is also the first reported cataract-causing mutation in the NH2-terminal region of the Cx46 protein. 16885921 2006
CUI: C0086543
Disease: Cataract
Cataract
0.100 GeneticVariation disease LHGDN PCR based Single Stranded Conformational Polymorphism (SSCP) analysis was used to screen sixty probands with nonsyndromic congenital cataract for mutations in the Cx46 gene (GJA3), followed by direct sequencing of samples that showed an electrophoretic shift. 16254549 2005
CUI: C0086543
Disease: Cataract
Cataract
0.100 GeneticVariation disease LHGDN A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance. 15286166 2004
CUI: C0086543
Disease: Cataract
Cataract
0.100 GeneticVariation disease BEFREE 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. 15208569 2004