Bioinformatics and Systems Medicine Laboratory
General information | Expression | Regulation | Mutation | Interaction

Basic Information

Gene ID

2706

Name

GJB2

Synonym

CX26|DFNA3|DFNA3A|DFNB1|DFNB1A|HID|KID|NSRD1|PPK;gap junction protein, beta 2, 26kDa;GJB2;gap junction protein, beta 2, 26kDa

Definition

connexin 26|gap junction beta-2 protein

Position

13q11-q12

Gene Type

protein-coding

Source

Count: 2; Pubmed_search,Generif

Literature support

Count: 3 PubMed records as below.

Evidence Status

Description

reviewed

[The expressions and clinical significance of tumor suppressor gene CX26 in laryngeal squamous cell carcinoma].

reviewed

The expression of the tumor suppressor gene connexin 26 is not mediated by methylation in human esophageal cancer cells.

potential

Variable promoter region CpG island methylation of the putative tumor suppressor gene Connexin 26 in breast cancer.
More detail of all 3 literatures about GJB2

Pathways and Diseases

Pathway

Membrane Trafficking;Reactome;REACT:11123

Pathway

Oligomerization of connexins into connexons;PID Reactome;500020

Pathway

Transport of connexons to the plasma membrane;PID Reactome;500021

Disease

Deafness, autosomal dominant 3A;OMIM

Disease

Cancer;FunDO

Disease

Deafness;GAD

Disease

nonsyndromic hearing impairment;GAD

Disease

Vohwinkel syndrome;OMIM

Disease

Hearing Loss, Sensorineural;GAD

Disease

hearing loss, sensorineural nonsyndromic;GAD

Disease

Hystrix-like ichthyosis with deafness;OMIM

Disease

Ectodermal dysplasia;FunDO

Disease

Bart-Pumphrey syndrome;OMIM

Disease

Keratoconjunctivitis Sicca;FunDO

Disease

Deafness;FunDO

Disease

Deafness, autosomal recessive 1A;OMIM

Disease

non-syndromic neurosensory deafness (DFNB1);GAD

Disease

nonsyndromic hearing loss;GAD

Disease

Keratitis-ichthyosis-deafness syndrome;OMIM

Disease

Shigella infection;FunDO

Disease

hearing loss/deafness;GAD

Disease

Skin disease;FunDO

Disease

Congenital abnormality;FunDO

Disease

GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations;GAD

Disease

Keratoderma, palmoplantar, with deafness;OMIM

External Links

Links to Entrez Gene

2706

Links to all GeneRIF Items

2706

Links to iHOP

2706

Sequence Information

Nucleotide Sequence

>2706 : length: 681
atggattggggcacgctgcagacgatcctggggggtgtgaacaaacactccaccagcatt
ggaaagatctggctcaccgtcctcttcatttttcgcattatgatcctcgttgtggctgca
aaggaggtgtggggagatgagcaggccgactttgtctgcaacaccctgcagccaggctgc
aagaacgtgtgctacgatcactacttccccatctcccacatccggctatgggccctgcag
ctgatcttcgtgtccacgccagcgctcctagtggccatgcacgtggcctaccggagacat
gagaagaagaggaagttcatcaagggggagataaagagtgaatttaaggacatcgaggag
atcaaaacccagaaggtccgcatcgaaggctccctgtggtggacctacacaagcagcatc
ttcttccgggtcatcttcgaagccgccttcatgtacgtcttctatgtcatgtacgacggc
ttctccatgcagcggctggtgaagtgcaacgcctggccttgtcccaacactgtggactgc
tttgtgtcccggcccacggagaagactgtcttcacagtgttcatgattgcagtgtctgga
atttgcatcctgctgaatgtcactgaattgtgttatttgctaattagatattgttctggg
aagtcaaaaaagccagtttaa

Protein Sequence

>2706 : length: 226
MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGC
KNVCYDHYFPISHIRLWALQLIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEE
IKTQKVRIEGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDGFSMQRLVKCNAWPCPNTVDC
FVSRPTEKTVFTVFMIAVSGICILLNVTELCYLLIRYCSGKSKKPV



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