| General information | Literature | Expression | Regulation | Variant | 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 |
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 |