Property Summary

NCBI Gene PubMed Count 13
Grant Count 20
R01 Count 12
Funding $2,351,672.75
PubMed Score 18.84
PubTator Score 20.27

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
inflammatory breast cancer -2.600 0.001
psoriasis -1.400 0.000

Gene RIF (8)

PMID Text
23179405 Although p.R15G and p.L23H mutants do not decrease the trafficking of CX proteins, mutations in GJC3 genes result in a loss of hemichannel function of CX30.2/CX31.3 protein, possibly causing hearing loss.
21480002 The connexin30.2/CX31.3 shares functional properties with pannexin (hemi) channels rather than gap junction channels of other Connexins.
20632892 Mutations in the Cx29 gene do not play a role in the causation of non syndromic hearing impairment in Indian population.
20632892 Observational study of gene-disease association. (HuGE Navigator)
20593197 Observational study of gene-disease association. (HuGE Navigator)
19876648 Data show that the p.E269D missense mutation resulted in accumulation of the Cx29 mutant protein in the endoplasmic reticulum rather than in the cytoplasmic membrane.
19657183 We suggest that the c.[43C-->G(+)230G-->C] compound heterozygous variant of Cx29 may be a risk factor for the development of hearing loss in Taiwanese.
18353664 Cx31.3 is localized to the gray matter along small myelinated fibers and is co-expressed with Cx32 in oligodendrocytes.

AA Sequence

MCGRFLRRLLAEESRRSTPVGRLLLPVLLGFRLVLLAASGPGVYGDEQSEFVCHTQQPGCKAACFDAFHP      1 - 70
LSPLRFWVFQVILVAVPSALYMGFTLYHVIWHWELSGKGKEEETLIQGREGNTDVPGAGSLRLLWAYVAQ     71 - 140
LGARLVLEGAALGLQYHLYGFQMPSSFACRREPCLGSITCNLSRPSEKTIFLKTMFGVSGFCLLFTFLEL    141 - 210
VLLGLGRWWRTWKHKSSSSKYFLTSESTRRHKKATDSLPVVETKEQFQEAVPGRSLAQEKQRPVGPRDA     211 - 279
//

Text Mined References (14)

PMID Year Title
23179405 2013 Mechanism of two novel human GJC3 missense mutations in causing non-syndromic hearing loss.
21742272 2010 The atrioventricular node: origin, development, and genetic program.
21480002 2011 Human connexin30.2/31.3 (GJC3) does not form functional gap junction channels but causes enhanced ATP release in HeLa cells.
20632892 2010 Mutations in the connexin 29 gene are not a major cause of nonsyndromic hearing impairment in India.
20593197 2010 Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation.
19876648 2010 A novel mutation in the connexin 29 gene may contribute to nonsyndromic hearing loss.
19657183 2010 Identification of novel variants in the Cx29 gene of nonsyndromic hearing loss patients using buccal cells and restriction fragment length polymorphism method.
18353664 2008 Human oligodendrocytes express Cx31.3: function and interactions with Cx32 mutants.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15293232 2004 Unique distributions of the gap junction proteins connexin29, connexin32, and connexin47 in oligodendrocytes.
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