Property Summary

NCBI Gene PubMed Count 58
Grant Count 41
R01 Count 18
Funding $5,218,578.75
PubMed Score 128.34
PubTator Score 105.76

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
osteosarcoma 1.171 0.000
pancreatic ductal adenocarcinoma liver m... 1.150 0.019
non-small cell lung cancer 2.067 0.000
intraductal papillary-mucinous neoplasm ... 1.300 0.006
colon cancer 1.800 0.017
pancreatic cancer 1.600 0.000
interstitial cystitis -1.200 0.015
spina bifida -1.382 0.036
ulcerative colitis 1.300 0.002
ovarian cancer 1.500 0.000

Gene RIF (44)

PMID Text
26251042 study suggests that Connexin-31 mutant proteins are un/misfolded to cause erythrokeratodermia variabilis likely via an AP-1-mediated mechanism and identifies a small molecule with therapeutic potential of the disease
26037344 Mutations in 12S rRNA, SLC26A4, GJB2 and GJB3 are highly associated with deafness.
25556823 identified dominant pathogenic missense mutation in the M4 transmembrane domain of GJB3; mutation led to the erythrokeratodermia variabilis (EKV) phenotype in the patient's family; results, combined with literature review, suggest dominant missense mutations outside the E2 domain in GJB3 are associated with EKV, and those within the E2 domain cause ADNSHL
24913888 The CX31 V174M mutant may have an effect on the formation and function of the gap junction, in nonsyndromic hearing loss.
23678955 In this study, we found no mutations of GJB3 in two Progressive symmetrical erythrokeratoderma families.
23638949 mutations prevalent in hearing loss patients
22681493 We report a missense mutation p.G45E in the GJB3 gene, which was responsible for Erythrokeratodermia variabilis in a Chinese family.
22617145 GJB3 and GJB6 genetic variants are associated with the pathogenicity of nonsyndromic sensorineural hearing loss.
22393412 Pathogenic connexin-31 forms constitutively active hemichannels to promote necrotic cell death
21950330 Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis.
More...

AA Sequence

MDWKTLQALLSGVNKYSTAFGRIWLSVVFVFRVLVYVVAAERVWGDEQKDFDCNTKQPGCTNVCYDNYFP      1 - 70
ISNIRLWALQLIFVTCPSLLVILHVAYREERERRHRQKHGDQCAKLYDNAGKKHGGLWWTYLFSLIFKLI     71 - 140
IEFLFLYLLHTLWHGFNMPRLVQCANVAPCPNIVDCYIARPTEKKIFTYFMVGASAVCIVLTICELCYLI    141 - 210
CHRVLRGLHKDKPRGGCSPSSSASRASTCRCHHKLVEAGEVDPDPGNNKLQASAPNLTPI              211 - 270
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Text Mined References (59)

PMID Year Title
26251042 2015 Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism.
26037344 2015 [Analysis of common mutations of deafness-related genes in 2725 newborns].
25556823 2015 The novel GJB3 mutation p.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermia variabilis.
24913888 2014 Mechanism of a novel missense mutation, p.V174M, of the human connexin31 (GJB3) in causing nonsyndromic hearing loss.
23678955 2013 Progressive symmetrical erythrokeratoderma: report of two Chinese families and evaluation for mutations in the loricrin, connexin 30.3 and connexin 31 genes.
23638949 2013 Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.
22681493 2012 A missense mutation in the GJB3 gene responsible for erythrokeratodermia variabilis in a Chinese family.
22617145 2013 Evaluation of the pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss.
22393412 2012 Pathogenic connexin-31 forms constitutively active hemichannels to promote necrotic cell death.
21950330 2012 Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis.
More...