| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 2705 |
Name | GJB1 |
Synonym | CMTX|CMTX1|CX32;gap junction protein, beta 1, 32kDa;GJB1;gap junction protein, beta 1, 32kDa |
Definition | GAP junction 28 kDa liver protein|connexin 32|connexin-32|gap junction beta-1 protein |
Position | Xq13.1 |
Gene Type | protein-coding |
Pathways and Diseases | |
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 |
External Links | |
Links to Entrez Gene | 2705 |
Links to all GeneRIF Items | 2705 |
Links to iHOP | 2705 |
Sequence Information | |
Nucleotide Sequence | >2705 : length: 1707 ACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTG TTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGA GCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAA AATGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAA CCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCAT GGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAA CACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGT GCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCA CGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCC CCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGAC CTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTA TCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCC CAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCAT GCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCAT CCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGG CTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGA GCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGC TGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCA CCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCC TGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCC TTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGT TACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTC TGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAAT CTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGG GTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCA GCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGG TGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCA CCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATT TTACAGTAAATGAAGAGGTGGCTTGTG |
Protein Sequence | >2705 : length: 283 MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGC NSVCYDQFFPISHVRLWSLQLILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEV KRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGYAMVRLVKCDVYPCPNTVDCF VSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLS PEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC |