Property Summary

NCBI Gene PubMed Count 52
Grant Count 165
R01 Count 154
Funding $16,620,156.34
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 0.000
adult high grade glioma -1.100 0.000
psoriasis 1.700 0.000

Synonym

Accession Q9Y6H8 Q0VAB7 Q9H537
Symbols CX46
CZP3
CTRCT14

Gene

PANTHER Protein Class (2)

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
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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.
More...