| Gene ID | 2705 |
| Symbol | GJB1 |
| Synonymous | CMTX|CMTX1|CX32 |
| Full name | gap junction protein, beta 1, 32kDa |
| Gene description | GAP junction 28 kDa liver protein|connexin 32|connexin-32|gap junction beta-1 protein |
| Cytoband | Xq13.1 |
| Gene type | protein-coding |
| Synonymous | MIM:304040; HGNC:HGNC:4283; Ensembl:ENSG00000169562; HPRD:02367; Vega:OTTHUMG00000021797 |
Pathways and Diseases | Detail |
|---|---|
Pathway | Membrane Trafficking;Reactome;REACT:11123 |
Pathway | Oligomerization of connexins into connexons;PID Reactome;500020 |
Disease | Renal Cell cancer;FunDO |
Disease | Charcot-Marie-Tooth disease;FunDO |
Disease | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1;OMIM |
Disease | Liver tumor;FunDO |
Disease | Lung cancer;FunDO |
Disease | NEUROLOGICAL;GAD |
Disease | Liver cancer;FunDO |
Disease | X-linked Charcot-Marie tooth disease;GAD |
Disease | Neoplasm metastasis;FunDO |
Disease | Charcot-Marie-Tooth disease;GAD |
Sequence Information | |
|---|---|
Nucleotide Sequence | >2705 : length: 1707 ACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGA GCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAA CCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAA CACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCA CGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGAC CTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCC CAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCAT CCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGA GCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCA CCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCC TTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTC TGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGG GTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGG TGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATT TTACAGTAAATGAAGAGGTGGCTTGTG |
Protein Sequence | >2705 : length: 283 MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVCYDQFFPISHVRLWSLQLILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEV KRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGYAMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLS PEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC |