Property Summary

NCBI Gene PubMed Count 54
PubMed Score 625.60
PubTator Score 171.59

Knowledge Summary

Patent

No data available

Gene RIF (45)

PMID Text
26174669 These results indicated that the mutant Cx50 (S276F) might inhibit the function of gap junction channel in a dominant negative manner, but inhibit the hemichannel function in a recessive negative manner.
25947639 This is a novel missense mutation [c.829C > T, (p.H277Y)] identified in exon 2 of Cx50.
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).
25517998 GJA8 mutation (p.V44A) is associated with autosomal dominant congenital cataract.
25403472 We have used trio-based exome sequencing to uncover a recurrent missense mutation in CRYGD and two novel missense mutations in GJA8 associated with autosomal dominant cataract in three nuclear families.
25301372 A recurrent missense mutation c.773C>T (p.S258F) in exon 2 of the gap junction protein alpha 8 gene (GJA8) was identified in the proband with nuclear cataract.
25003127 structural bases of the varied functional consequences of Cx50 missense mutations, were determined.
24535056 Tthe molecular consequences of the p.P88T mutation in GJA8 include changes in connexin 50 protein localization patterns.
24281366 Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.
24005045 The results provide a molecular basis for the formation of various cataract phenotypes in human patients with Cx50 mutations.
23720739 Data indicate that after inhibition of new protein synthesis with cycloheximide, CX50fs disappeared much more rapidly than CX50, suggesting increased degradation of the mutant.
23592913 A novel connexin 50 gene (GJA8) mutation, resulting in the amino substitution p. D47H in a Chinese family with nuclear and zonular pulverulent congenital cataracts, is reported.
23555834 a novel G>A mutation of GJA8 in a three-generation Chinese pedigree was associated with perinuclear opacities of the lens involving the nucleus
21965293 A PDZ-binding motif and ZO-1 protein are necessary for Cx50 intercellular channel formation
21921990 A missense D47N mutation in GJA8 is associated with autosomal dominant congenital cataract in a Chinese family.
21686328 Mutations in GJA8 and CRYAA were identified in three Chinese families with cataract and microcornea.
21423869 Two novel nonsynonymous variations and four reported variations in CRYAB, CRYGC, CRYGD, and GJA8, were observed.
21386927 The genetic mutation in GJA3, GJA8, and LIM2 may slightly contribute to the development of age-related cataracts.
21378309 Autophagy is involoved in the degradation of CX43 and CX50.
21228318 The G46V and W45S mutations of connexin 50 are in adjacent amino acids. W45S inhibits gap junctional channel function while G46V reduces cell viability by forming open hemichannels.
21174522 The D47N mutation of Cx50 causes the hereditary nuclear cataract in this family in an autosomal dominant mode of inheritance with incomplete penetrance.
20806042 This report is the first to relate p.R198W mutation in GJA8 with congenital cataract-microcornea syndrome.
20597646 This study has identified a novel missense mutation located in the carboxyl terminus of GJA8 (S258F) associated with autosomal dominant nuclear cataract.
20582632 the gap junction protein-alpha 8 polymorphisms may have a role in age-related cataracts
20582632 Observational study of gene-disease association. (HuGE Navigator)
20019893 A novel mutation in GJA8 was detected in a Chinese family with autosomal dominant congenital nuclear cataract, providing clear evidence of a relationship between the genotype and the corresponding cataract phenotype.
19756179 Direct sequencing of the PCR product produced from lens cDNA showed that the proband was heterozygous for a G>T transition at position 741 of the GJA8 gene, encoding the exchange of methionine for isoleucine at position 247 of CX50.
19684000 The biochemical results indirectly suggest a potential novel mechanism by which connexin mutants could lead to cataracts.
18587493 A p.P88Q mutation in GJA8 associated with Y-sutural cataract in a family of Indian origin, is reported.
18483562 The ins776G mutation most likely causes a recessive triangular cataract with variable expressivity of a weak phenotype in heterozygotes.
18334966 A novel GJA8 gene mutation was found to be associated with hereditary cataract in a Chinese congenital cataract family.
18334966 Observational study of gene-disease association. (HuGE Navigator)
18334946 This is a novel mutation identified in the first transmembrane domain (M1) of GJA8.
18247306 A novel disease-causing mutation (D47Y) of GJA8 gene in a Chinese family with ADCC is reported.
18006672 Pulverulent cataracts present in members of a family are associated with a novel mutation, Cx50D47N, that acts as a loss-of-function mutation. The consequent decrease in lens intercellular communication may contribute to cataract formation.
17724170 Five novel mutations in CRYAA, CRYGD, and GJA8 genes were detected in congenital cataract in association with microcornea
17601931 Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract.
17546509 a cross-talk between CFTR and a variety of gap junction channels. Cytoskeletal scaffolding proteins and/or other intermediate cytoplasmic proteins are likely to play a role in CFTR-connexins interaction.
17412882 Observational study of gene-disease association. (HuGE Navigator)
17412882 Matched case-control and family study indicate that Cx50 may play a role in the genetic susceptibility to schizophrenia.
16740131 Resultsdemonstrated that Cx50 hemichannels gating control can be cooperated by CaM and Ca2+.
16604058 This is the first report of mutations in GJA8 (connexin50) to be associated with autosomal dominant cataract and microcornea.
16397066 The pulverulent cataract described in this family is associated with a novel GJA8 mutation and has a different clinical phenotype from previously described GJA8 mutants.
15696487 Study confirmed that GJA8 plays a vital role in the maintenance of human lens transparency and its mutation could be the genetic defect causing autosomal dominant congenital cataract .
11944087 the C-terminus of human Cx50 is involved in pHi sensitivity, but has little influence over single-channel conductance, voltage dependence, or gating kinetics.

AA Sequence

MGDWSFLGNILEEVNEHSTVIGRVWLTVLFIFRILILGTAAEFVWGDEQSDFVCNTQQPGCENVCYDEAF      1 - 70
PISHIRLWVLQIIFVSTPSLMYVGHAVHYVRMEEKRKSREAEELGQQAGTNGGPDQGSVKKSSGSKGTKK     71 - 140
FRLEGTLLRTYICHIIFKTLFEVGFIVGHYFLYGFRILPLYRCSRWPCPNVVDCFVSRPTEKTIFILFML    141 - 210
SVASVSLFLNVMELGHLGLKGIRSALKRPVEQPLGEIPEKSLHSIAVSSIQKAKGYQLLEEEKIVSHYFP    211 - 280
LTEVGMVETSPLPAKPFNQFEEKISTGPLGDLSRGYQETLPSYAQVGAQEVEGEGPPAEEGAEPEVGEKK    281 - 350
EEAERLTTEEQEKVAVPEGEKVETPGVDKEGEKEEPQSEKVSKQGLPAEKTPSLCPELTTDDARPLSRLS    351 - 420
KASSRARSDDLTV                                                             421 - 433
//

Text Mined References (59)

PMID Year Title
26174669 2015 Mutant connexin 50 (S276F) inhibits channel and hemichannel functions inducing cataract.
25947639 2015 A novel Cx50 (GJA8) p.H277Y mutation associated with autosomal dominant congenital cataract identified with targeted next-generation sequencing.
25549162 2015 Mutation analysis in Chinese families with autosomal dominant hereditary cataracts.
25517998 2014 A novel GJA8 mutation (p.V44A) causing autosomal dominant congenital cataract.
25403472 2014 Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract.
25301372 2014 Rapid and cost-effective molecular diagnosis using exome sequencing of one proband with autosomal dominant congenital cataract.
25003127 2014 Structure-function correlation analysis of connexin50 missense mutations causing congenital cataract: electrostatic potential alteration could determine intracellular trafficking fate of mutants.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
24535056 2014 Identification of a novel GJA8 (Cx50) point mutation causes human dominant congenital cataracts.
24281366 2014 Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.
24005045 2014 Functional effects of Cx50 mutations associated with congenital cataracts.
23720739 2013 A connexin50 mutant, CX50fs, that causes cataracts is unstable, but is rescued by a proteasomal inhibitor.
23592913 2013 A novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract.
23555834 2013 Identification and functional analysis of GJA8 mutation in a Chinese family with autosomal dominant perinuclear cataracts.
23508780 2013 Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
21965293 2011 Cx50 requires an intact PDZ-binding motif and ZO-1 for the formation of functional intercellular channels.
21921990 2011 Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract.
21686328 2011 Mutational screening of six genes in Chinese patients with congenital cataract and microcornea.
21423869 2011 Mutation screening and genotype phenotype correlation of ?-crystallin, ?-crystallin and GJA8 gene in congenital cataract.
21386927 2011 Genetic variations in GJA3, GJA8, LIM2, and age-related cataract in the Chinese population: a mutation screening study.
21378309 2011 Autophagy: a pathway that contributes to connexin degradation.
21228318 2011 Different consequences of cataract-associated mutations at adjacent positions in the first extracellular boundary of connexin50.
21174522 2011 Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract.
20806042 2010 A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree.
20597646 2010 A novel mutation in the connexin 50 gene (GJA8) associated with autosomal dominant congenital nuclear cataract in a Chinese family.
20582632 2011 Association between gap junction protein-alpha 8 polymorphisms and age-related cataract.
20019893 2009 A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.
19756179 2009 The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation.
19684000 2009 A mutant connexin50 with enhanced hemichannel function leads to cell death.
18587493 2008 A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.
18483562 2008 A novel GJA8 mutation causing a recessive triangular cataract.
18334966 2008 A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract.
18334946 2008 A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin.
18247306 2008 [A novel GJA8 mutation in a Chinese family with autosomal dominant congenital cataract].
18006672 2008 A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.
17724170 2007 Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.
17601931 2007 Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract.
17546509 2006 Interplay between cystic fibrosis transmembrane regulator and gap junction channels made of connexins 45, 40, 32 and 50 expressed in oocytes.
17412882 2007 Connexin 50 gene on human chromosome 1q21 is associated with schizophrenia in matched case control and family-based studies.
16740131 2006 The gating effect of calmodulin and calcium on the connexin50 hemichannel.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16604058 2006 Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.
16397066 2006 A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract.
16234473 2005 Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract.
15696487 2005 [A heterozygous transversion of connexin 50 in a family with congenital nuclear cataract in the northeast of China].
14627691 2003 A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.
12808044 2003 Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1).
12107413 2002 Expressed sequence tag analysis of adult human lens for the NEIBank Project: over 2000 non-redundant transcripts, novel genes and splice variants.
11846744 2001 Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract.
11023900 2000 Properties of gap junction channels formed by Cx46 alone and in combination with Cx50.
10480374 Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin.
9664032 1998 Assembly of connexins and MP26 in lens fiber plasma membranes studied by SDS-fracture immunolabeling.
9497259 1998 A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q.
9479004 1997 Regional mapping of the human MP70 (Cx50; connexin 50) gene by fluorescence in situ hybridization to 1q21.1.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8549164 1995 The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosome mapping.
7796604 1995 The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosome mapping.
1491428 1992 The permeability of reconstituted liposomes containing the purified lens fiber cell integral membrane proteins MP20, MP26 and MP70.
396131 1979 Report of the committee on the genetic constitution of chromosome 1.