Property Summary

NCBI Gene PubMed Count 673
Grant Count 275
R01 Count 182
Funding $43,004,285.73
PubMed Score 1444.20
PubTator Score 1611.10

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (54)

Disease Z-score Confidence
Nonsyndromic deafness 121 8.201 4.0
Sensorineural hearing loss 107 7.353 3.7
Enlarged vestibular aqueduct 10 5.724 2.9
Keratitis 42 5.426 2.7
Keratosis 34 5.047 2.5
Clouston syndrome 9 4.879 2.4
Bart-Pumphrey syndrome 4 4.779 2.4
Ainhum 5 4.102 2.1
Usher syndrome 34 4.096 2.0
Oculodentodigital dysplasia 14 3.652 1.8
Erythrokeratodermia variabilis 10 3.444 1.7
Cancer 2,346 3.343 1.7
Neuropathy 210 3.132 1.6
Atopic dermatitis 944
Breast cancer 3,094
Cellulitis 13
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorde... 2 
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disord... 3 
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder) 2
DEAFNESS, DIGENIC, GJB2/GJB6 (disorder) 2
Deafness 18
Hidradenitis suppurativa 12
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS 1
Ichthyoses 3
Knuckle pads, leuconychia and sensorineu... 1 
Mutilating keratoderma 1
Palmoplantar Keratoderma with Deafness 1
Palmoplantar keratosis 36 4.0
Porokeratotic eccrine ostial and dermal ... 1 
Sensorineural Hearing Loss (disorder) 11
Senter syndrome 1
Skin Neoplasms 49
adult high grade glioma 2,148
breast carcinoma 1,614
cystic fibrosis 1,665
ductal carcinoma in situ 1,745
ependymoma 2,514
facioscapulohumeral dystrophy 286
head and neck cancer 270
intraductal papillary-mucinous carcinoma... 2,988 
intraductal papillary-mucinous neoplasm ... 3,289 
invasive ductal carcinoma 2,950
lung adenocarcinoma 2,713
medulloblastoma 1,524
medulloblastoma, large-cell 6,234
non-small cell lung cancer 2,798
ovarian cancer 8,484
pancreatic cancer 2,300
primary pancreatic ductal adenocarcinoma 1,271
primitive neuroectodermal tumor 3,031
psoriasis 6,685
spina bifida 1,064
tuberculosis and treatment for 3 months 327
ulcerative colitis 2,087 1.0

Expression

Synonym

Accession P29033 Q508A5 Q508A6 Q5YLL0 Q5YLL1 Q5YLL4 Q6IPV5 Q86U88 Q96AK0 Q9H536 Q9NNY4
Symbols HID
KID
PPK
CX26
DFNA3
DFNB1
NSRD1
DFNA3A
DFNB1A

Gene

PANTHER Protein Class (2)

PDB

1XIR   2ZW3   3IZ1   3IZ2   5ER7   5ERA  

Gene RIF (724)

PMID Text
27057829 The detection rate of the single GJB2 mutation among the 160 SNHL subjects in the present study (6.25%) was higher than 2.58% in normal hearing controls in Korean. The DFNB1 was clearly excluded as a molecular etiology in four (40%) subjects
26977562 GJB2 mutation is associated with hereditary deafness in Yakutiya.
26896187 The results show a very high proportion of GJB2-positive individuals in Lithuanian patients affected with sensorineural hearing loss.
26831144 Connexin26 I30N and D50Y mutations resulted in the retention of Cx26 protein in the Golgi apparatus.
26810281 We have found a 148G-A transition in the GJB2 gene, resulting in an asp50-to-asn (D50N) substitution in a girl with congenital deafness. This finding allowed us to diagnose small a, Cyrillic KID syndrome.
26763442 Connexin26 mutation is responsible for palmoplantar keratoderma and deafness.
26753910 Cx26 structure is nearly identical with and without bound Ca2+. Ca2+ regulates Cx26 via ionic conduction block via an electrostatic barrier rather than steric occlusion of the channel pore.
26749107 although all variants were able to function normally as hetero-oligomeric gap junction channels, six variants (p.E47K, p.E47Q, p.H100L, p.H100Y, p.R127L, and p.M195L) did not function normally as homo-oligomeric GJ channels
26663044 Data suggest that ombined hearing screening and genetic screening of gap junction protein beta 2 (GJB2), mtDNA 12srRNA and solute carrier family 26, member 4 protein SLC26A4 mutations can improve the rate of detection.
26648344 Cx26 overexpression by transfection of Cx26 plasmid DNA enhanced OXA cytotoxicity.
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AA Sequence

MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGCKNVCYDHYFP      1 - 70
ISHIRLWALQLIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEEIKTQKVRIEGSLWWTYTSSI     71 - 140
FFRVIFEAAFMYVFYVMYDGFSMQRLVKCNAWPCPNTVDCFVSRPTEKTVFTVFMIAVSGICILLNVTEL    141 - 210
CYLLIRYCSGKSKKPV                                                          211 - 226
//

Text Mined References (676)

PMID Year Title
27057829 2016 Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not?
26977562 2016 [The audiological analysis in the patients homozygous for the c.-23+1G>A mutation in the GJB2 gene presenting with the loss of hearing in Yakutiya].
26896187 2016 The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.
26831144 2016 Altered cellular localization and hemichannel activities of KID syndrome associated connexin26 I30N and D50Y mutations.
26810281 2016 Phenotype in a patient with p.D50N mutation in GJB2 gene resemble both KID and Clouston syndromes.
26763442 2016 Connexin26 Mutations Causing Palmoplantar Keratoderma and Deafness Interact with Connexin43, Modifying Gap Junction and Hemichannel Properties.
26753910 2016 An electrostatic mechanism for Ca(2+)-mediated regulation of gap junction channels.
26749107 2016 The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis.
26663044 2015 [Combined hearing and deafness gene mutation screening of 11,046 Chinese newborns].
26648344 2016 Impaired gap junctions in human hepatocellular carcinoma limit intrinsic oxaliplatin chemosensitivity: A key role of connexin 26.
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