| Gene ID | 2706 |
| Symbol | GJB2 |
| Synonymous | CX26|DFNA3|DFNA3A|DFNB1|DFNB1A|HID|KID|NSRD1|PPK |
| Full name | gap junction protein, beta 2, 26kDa |
| Gene description | connexin 26|gap junction beta-2 protein|gap junction protein beta 2 |
| Cytoband | 13q11-q12 |
| Gene type | protein-coding |
| Synonymous | MIM:121011; HGNC:HGNC:4284; Ensembl:ENSG00000165474; HPRD:00413; Vega:OTTHUMG00000016513 |
Pathways and Diseases | Detail |
|---|---|
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 |
Sequence Information | |
|---|---|
Nucleotide Sequence | >2706 : length: 2347 GGGGTGCGGTTAAAAGGCGCCACGGCGGGAGACAGGTGTTGCGGCCCCGCAGCGCCCGCGCGCTCCTCTCCCCGACTCGGAGCCCCTCGGCGGCGCCCGGCCCAGGACCCGCCTAGGAGC GCAGGAGCCCCAGCGCAGAGACCCCAACGCCGAGACCCCCGCCCCGGCCCCGCCGCGCTTCCTCCCGACGCAGAGCAAACCGCCCAGAGTAGAAGATGGATTGGGGCACGCTGCAGACGA TCCTGGGGGGTGTGAACAAACACTCCACCAGCATTGGAAAGATCTGGCTCACCGTCCTCTTCATTTTTCGCATTATGATCCTCGTTGTGGCTGCAAAGGAGGTGTGGGGAGATGAGCAGG CCGACTTTGTCTGCAACACCCTGCAGCCAGGCTGCAAGAACGTGTGCTACGATCACTACTTCCCCATCTCCCACATCCGGCTATGGGCCCTGCAGCTGATCTTCGTGTCCACGCCAGCGC TCCTAGTGGCCATGCACGTGGCCTACCGGAGACATGAGAAGAAGAGGAAGTTCATCAAGGGGGAGATAAAGAGTGAATTTAAGGACATCGAGGAGATCAAAACCCAGAAGGTCCGCATCG AAGGCTCCCTGTGGTGGACCTACACAAGCAGCATCTTCTTCCGGGTCATCTTCGAAGCCGCCTTCATGTACGTCTTCTATGTCATGTACGACGGCTTCTCCATGCAGCGGCTGGTGAAGT GCAACGCCTGGCCTTGTCCCAACACTGTGGACTGCTTTGTGTCCCGGCCCACGGAGAAGACTGTCTTCACAGTGTTCATGATTGCAGTGTCTGGAATTTGCATCCTGCTGAATGTCACTG AATTGTGTTATTTGCTAATTAGATATTGTTCTGGGAAGTCAAAAAAGCCAGTTTAACGCATTGCCCAGTTGTTAGATTAAGAAATAGACAGCATGAGAGGGATGAGGCAACCCGTGCTCA GCTGTCAAGGCTCAGTCGCTAGCATTTCCCAACACAAAGATTCTGACCTTAAATGCAACCATTTGAAACCCCTGTAGGCCTCAGGTGAAACTCCAGATGCCACAATGGAGCTCTGCTCCC CTAAAGCCTCAAAACAAAGGCCTAATTCTATGCCTGTCTTAATTTTCTTTCACTTAAGTTAGTTCCACTGAGACCCCAGGCTGTTAGGGGTTATTGGTGTAAGGTACTTTCATATTTTAA ACAGAGGATATCGGCATTTGTTTCTTTCTCTGAGGACAAGAGAAAAAAGCCAGGTTCCACAGAGGACACAGAGAAGGTTTGGGTGTCCTCCTGGGGTTCTTTTTGCCAACTTTCCCCACG TTAAAGGTGAACATTGGTTCTTTCATTTGCTTTGGAAGTTTTAATCTCTAACAGTGGACAAAGTTACCAGTGCCTTAAACTCTGTTACACTTTTTGGAAGTGAAAACTTTGTAGTATGAT AGGTTATTTTGATGTAAAGATGTTCTGGATACCATTATATGTTCCCCCTGTTTCAGAGGCTCAGATTGTAATATGTAAATGGTATGTCATTCGCTACTATGATTTAATTTGAAATATGGT CTTTTGGTTATGAATACTTTGCAGCACAGCTGAGAGGCTGTCTGTTGTATTCATTGTGGTCATAGCACCTAACAACATTGTAGCCTCAATCGAGTGAGACAGACTAGAAGTTCCTAGTGA TGGCTTATGATAGCAAATGGCCTCATGTCAAATATTTAGATGTAATTTTGTGTAAGAAATACAGACTGGATGTACCACCAACTACTACCTGTAATGACAGGCCTGTCCAACACATCTCCC TTTTCCATGACTGTGGTAGCCAGCATCGGAAAGAACGCTGATTTAAAGAGGTCGCTTGGGAATTTTATTGACACAGTACCATTTAATGGGGAGGACAAAATGGGGCAGGGGAGGGAGAAG TTTCTGTCGTTAAAAACAGATTTGGAAAGACTGGACTCTAAAGTCTGTTGATTAAAGATGAGCTTTGTCTACTTCAAAAGTTTGTTTGCTTACCCCTTCAGCCTCCAATTTTTTAAGTGA AAATATAGCTAATAACATGTGAAAAGAATAGAAGCTAAGGTTTAGATAAATATTGAGCAGATCTATAGGAAGATTGAACCTGAATATTGCCATTATGCTTGACATGGTTTCCAAAAAATG GTACTCCACATATTTCAGTGAGGGTAAGTATTTTCCTGTTGTCAAGAATAGCATTGTAAAAGCATTTTGTAATAATAAAGAATAGCTTTAATGATATGCTTGTAACTAAAATAATTTTGT AATGTATCAAATACATTTAAAACATTAAAATATAATCTCTATAATAATTTAAAAAAAAAAAAAAAAA |
Protein Sequence | >2706 : length: 226 MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGCKNVCYDHYFPISHIRLWALQLIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEE IKTQKVRIEGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDGFSMQRLVKCNAWPCPNTVDCFVSRPTEKTVFTVFMIAVSGICILLNVTELCYLLIRYCSGKSKKPV |