Property Summary

NCBI Gene PubMed Count 28
Grant Count 41
R01 Count 34
Funding $4,582,938.63
PubMed Score 85.00
PubTator Score 51.63

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
breast carcinoma -1.100 0.000
pediatric high grade glioma -1.100 0.000
lung adenocarcinoma -1.100 0.000
psoriasis -1.200 0.000

Gene RIF (19)

PMID Text
24374284 GJC2 promoter region mutation screening should be included in the evaluation of patients with unexplained hypomyelinating leukodystrophies.
23684670 a novel homozygous mutation in GJC2 was identified in a 21-year-old female patient with Pelizaeus-Merzbacher-like disease
23550541 we provide evidence that a mutation in GJA1 leads not only to ODD as already described in the literature, but can also lead to lymphoedema as an associated feature.
23544880 Most of the Pelizaeus-Merzbacher-like disease (PMLD)-linked Cx47 mutants disrupt Cx47/Cx47 and Cx47/Cx43 GJ function in the glial network, which may play a role in leading to PMLD symptoms
23142375 founder mutation c.-167A>G localized in the GJC2 protein promoter region in patients with Pelizaeus Merzbacher disease and Pelizaeus Merzbacher like disease
22669416 the extremely severe clinical Pelizaeus-Merzbacher-like disease form likely correlates with the predicted impairment of gap junction channel assembly resulting from the detrimental effect of the new p.Glu260Lys mutant allele on Cx47 protein
22351697 Cx47 mutations were identified in individuals having secondary lymphedema following breast cancer treatment; these novel mutations are dysfunctional and provide evidence that altered gap junction function leads to lymphedema
22283455 This study identified novel chromosomal rearrangements proximal and distal to, and exclusive of the PLP1 gene, showed equal frequencies of PLP1 and GJA12/GJC2 mutations
21959080 We report the identification of the GJC2 promoter mutation (c.-167A>G) in nine patients from three unrelated Pakistani families with Pelizaeus-Merzbacher-like disease. Linkage analysis was consistent with a likely founder effect of this mutation
21266381 Mutations within the GJC2 gene are associated with primary lymphoedema.
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AA Sequence

MTNMSWSFLTRLLEEIHNHSTFVGKVWLTVLVVFRIVLTAVGGEAIYSDEQAKFTCNTRQPGCDNVCYDA      1 - 70
FAPLSHVRFWVFQIVVISTPSVMYLGYAVHRLARASEQERRRALRRRPGPRRAPRAHLPPPHAGWPEPAD     71 - 140
LGEEEPMLGLGEEEEEEETGAAEGAGEEAEEAGAEEACTKAVGADGKAAGTPGPTGQHDGRRRIQREGLM    141 - 210
RVYVAQLVARAAFEVAFLVGQYLLYGFEVRPFFPCSRQPCPHVVDCFVSRPTEKTVFLLVMYVVSCLCLL    211 - 280
LNLCEMAHLGLGSAQDAVRGRRGPPASAPAPAPRPPPCAFPAAAAGLACPPDYSLVVRAAERARAHDQNL    281 - 350
ANLALQALRDGAAAGDRDRDSSPCVGLPAASRGPPRAGAPASRTGSATSAGTVGEQGRPGTHERPGAKPR    351 - 420
AGSEKGSASSRDGKTTVWI                                                       421 - 439
//

Text Mined References (26)

PMID Year Title
24374284 2014 GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.
23684670 2013 A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like disease.
23550541 2013 A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family.
23544880 2013 The distribution and functional properties of Pelizaeus-Merzbacher-like disease-linked Cx47 mutations on Cx47/Cx47 homotypic and Cx47/Cx43 heterotypic gap junctions.
23142375 2013 Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease.
22669416 2013 Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.
22351697 2012 Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment.
22283455 2013 High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.
21959080 2011 Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.
21266381 2011 Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.
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