Property Summary

NCBI Gene PubMed Count 144
Grant Count 139
R01 Count 80
Funding $16,633,342.39
PubMed Score 859.46
PubTator Score 273.53

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (18)

Disease log2 FC p
posterior fossa group A ependymoma -5.600 0.000
oligodendroglioma -3.500 0.000
astrocytoma -3.000 0.000
glioblastoma -5.700 0.000
osteosarcoma -2.845 0.000
group 3 medulloblastoma -7.000 0.000
atypical teratoid/rhabdoid tumor -5.800 0.000
medulloblastoma, large-cell -6.200 0.000
primitive neuroectodermal tumor -4.800 0.000
Atopic dermatitis 1.100 0.000
non-small cell lung cancer 4.622 0.000
interstitial cystitis -3.500 0.000
cystic fibrosis 3.200 0.000
adult high grade glioma -5.700 0.000
pilocytic astrocytoma -6.300 0.000
psoriasis 3.000 0.000
subependymal giant cell astrocytoma -4.986 0.001
spina bifida -1.291 0.031

Synonym

Accession O95452 B3KQN2 Q5Q1H9 Q5Q1I0 Q5Q1I1 Q5T5U0 Q8IUP0
Symbols ED2
EDH
HED
CX30
HED2
DFNA3
ECTD2
DFNA3B
DFNB1B

Gene

PANTHER Protein Class (2)

Gene RIF (144)

PMID Text
26620415 identification and functional characterization of a new Cx30 mutation in a family with hearing impairment in association with previously unreported skin anomalies
26265468 found that connexin 26 (Cx26) and Cx30 GJs readily diffuse within the plaque structures, whereas Cx43 GJs remain persistently immobile for more than 2 min after bleaching
26188157 An absence of GJB6 mutations and low frequency of SLC26A4 mutations suggest that additional genetic factors may contribute to nonsyndromic hearing loss in India.
26075227 results suggest that SNPs present in the GJB2 and GJB6 genes may have an influence on ARNSHL in humans.
26046157 Mutations in GJB2, GJB6 and GJA1 are not a major cause of non-syndromic deafness in black Africans
25989237 Screening of GJB6 gene large deletions among Syrians with congenital hearing impairment.
25715449 A new extended deletion in the GJB2 and GJB6 gene sequences (approximately 101 kb in size; NC_000013.10:g.20,757,021_20,858,394del), detected in three unrelated Russian patients, was described and characterized.
25383624 Results show high mRNA and protein levels for Cx43 and Cx30 in breast cancer but they are correlated with improved and bad outcome respectively suggesting that they may serve as prognostic markers in breast cancer.
25288386 GJB6 deletions were not detected.
25155356 Periostin is a robust marker of glioma malignancy and potential tumor recurrence. Abrogation of glioma stem cell tumorigenicity after periostin inhibition provides support for exploring the therapeutic impact of targeting periostin.
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AA Sequence

MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFP      1 - 70
VSHIRLWALQLIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIEDIKKQKVRIEGSLWWTYTSSI     71 - 140
FFRIIFEAAFMYVFYFLYNGYHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTIFMISASVICMLLNVAEL    141 - 210
CYLLLKVCFRRSKRAQTQKNHPNHALKESKQNEMNELISDSGQNAITGFPS                       211 - 261
//

Text Mined References (145)

PMID Year Title
26620415 2016 Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma.
26265468 2015 Connexin Type and Fluorescent Protein Fusion Tag Determine Structural Stability of Gap Junction Plaques.
26188157 2015 Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India.
26075227 2015 Single nucleotide polymorphisms of the GJB2 and GJB6 genes are associated with autosomal recessive nonsyndromic hearing loss.
26046157 2015 No evidence for clinical utility in investigating the connexin genes GJB2, GJB6 and GJA1 in non-syndromic hearing loss in black Africans.
25989237 2015 Screening of GJB6 gene large deletions among Syrians with congenital hearing impairment.
25715449 2014 [New recurrent extended deletion, including GJB2 and GJB6 genes, results in isolated sensorineural hearing impairment with autosomal recessive type of inheritance].
25383624 2014 Correlations of differentially expressed gap junction connexins Cx26, Cx30, Cx32, Cx43 and Cx46 with breast cancer progression and prognosis.
25288386 2014 GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico.
25155356 2015 Connexin 30 expression inhibits growth of human malignant gliomas but protects them against radiation therapy.
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