Property Summary

NCBI Gene PubMed Count 22
Grant Count 9
R01 Count 3
Funding $281,987.2
PubMed Score 39.05
PubTator Score 24.35

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
osteosarcoma 1.257 0.000
medulloblastoma, large-cell 1.500 0.000
adult high grade glioma 1.100 0.008
ovarian cancer 1.400 0.000
psoriasis -3.400 0.000

Gene RIF (14)

PMID Text
25333454 GJB4 may be a genetic risk factor for the development of nonsyndromic hearing loss and the data from the present study can be used to direct the clinical evaluation and effectively manage the care of families of children with GJB4.
23678955 In this study, we found no mutations of GJB4 in two Progressive symmetrical erythrokeratoderma families.
23037955 Letter: describe erythrokeratodermia variabilis phenotype related to novel mutation in GJB4 gene.
22266302 Bidirectional sequencing of the coding region of GJB4 revealed a novel c.295G>A missense mutation.
21950330 Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis.
21198793 There were no mutations found in the GJB4 gene and the true pathogenesis of progressive symmetrical erythrokeratodermia remains unknown.
20593197 Observational study of gene-disease association. (HuGE Navigator)
19578796 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19523148 Observational study of gene-disease association. (HuGE Navigator)
19291775 Five patients with erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron had the same mutation in the GJB4 gene causing the amino acid substitution p.Gly12Asp (G12D).
More...

AA Sequence

MNWAFLQGLLSGVNKYSTVLSRIWLSVVFIFRVLVYVVAAEEVWDDEQKDFVCNTKQPGCPNVCYDEFFP      1 - 70
VSHVRLWALQLILVTCPSLLVVMHVAYREERERKHHLKHGPNAPSLYDNLSKKRGGLWWTYLLSLIFKAA     71 - 140
VDAGFLYIFHRLYKDYDMPRVVACSVEPCPHTVDCYISRPTEKKVFTYFMVTTAAICILLNLSEVFYLVG    141 - 210
KRCMEIFGPRHRRPRCRECLPDTCPPYVLSQGGHPEDGNSVLMKAGSAPVDAGGYP                  211 - 266
//

Text Mined References (22)

PMID Year Title
25333454 2015 Association between mutations in the gap junction ?4 gene and nonsyndromic hearing loss: genotype-phenotype correlation patterns.
23678955 2013 Progressive symmetrical erythrokeratoderma: report of two Chinese families and evaluation for mutations in the loricrin, connexin 30.3 and connexin 31 genes.
23037955 2013 Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis.
22266302 Erythrokeratodermia variabilis: report of two cases and a novel missense variant in GJB4 encoding connexin 30.3.
21950330 2012 Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis.
21198793 2011 Evidence for the absence of mutations at GJB3, GJB4 and LOR in progressive symmetrical erythrokeratodermia.
20593197 2010 Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation.
19578796 2009 Association of genetic variants with chronic kidney disease in individuals with different lipid profiles.
19523148 2009 Analysis of gene polymorphisms associated with K ion circulation in the inner ear of patients susceptible and resistant to noise-induced hearing loss.
19291775 2009 The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron.
More...