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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for GJB6 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 10804 Official gene symbol GJB6 Full name gap junction protein, beta 6, 30kDa Aliases ,CX30,DFNA3,DFNA3B,DFNB1B,ED2,EDH,HED, Gene summary Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq] Location Chromosome: 13   Locus: 13q11-q12.1|13q12 Gene position 20806534 - 20796101  Map Viewer Gene orientation minus Gene size 10434 bp Gene sequence >GJB6:complement(1776101..1786534):Length=10434 CCGCAGCCCGCCCGAGCCGCGTCAGGGCAGAGGCGGGGTGGGGCGCGGTTAAAAGGCGCA GCAGGTGGGAGCCGGGGCCTTCACCCGAAACCCGACGAGAGCCCGACAGCCGGCGGCGCC CGAGCCCGACCTGCCTGCCCAGCCGGAGCGAAGGGCGCCGCCCCGCGCAGAGCCCGCGCC AGGGCCGCCGGCCGCAGAGCAGGTAAGCGGGCGCGGACCGGCTGGGTCTTGCGGGGGGCG AGCGGGCGGTGCCACCTCGGCCCCCCAGCGGAGGAATTTCCTCCAAGAAAACAAAACAGG TGAGGTCGGCGGCTGGTCCCCACCTCGCCCCTGTCGCTCCTGTCTGGCACCGGATCAGAG CCGGCAGAGCGCGGCCGGGATGGGTGTCTGGCCGCACGTGGGGCGACCGGGCCCCCGATC TGCCTCTATCCGCACCCTCCTGTCCACGCGCCCCGGCCCCGGCCCGATGGCAGTGGGCGC CGCCCGCGCTGGACCCTCTCTCTGTACGCAGAGGAACGAGGATGGACTGGTTTGACTTTT ACCCCAGCGTGGTCCCCTTTGACTTGTACAACAGGTTTTATGAAGGTTTCATATCGTGTG TCTAAGAGGCCAGAGTGAGGGCCGGTGCCCCTTTCCCCCGTTTCATTTGCTGCGTGTTGG ATTTTCTAAGCTTTTGTGGGTCACCGGGGTGTCCCCTTGGATTTGGGGAGAAGAAAGCCA GGTCTAGGATGCGGGTTTCAGTTCAGACAAACCCTCAACTTGGGCCGATGCATAAGTCCC CGGAGAACCGCAGGGTATGGGCTGCGTGATGGGCTTCCGAGAAACTTGTGAAATGCTGAT GACAATAGCGTGGACGACAGTAATTAAAAGTAATTGGCGACACATCTTAGTTAAAACGTG CAGGCACCAGAAGGCACTTCCTGTCGGTGAAGAAGACCTGTCTCCGGTGTCACGGGCATC CTGTGTTTTGCAAACGGGGCTGACCTCCCTTCCTGGGGAGCAGGAAGGGTCAGGGTGAGT GTGGCCTGCCCGCAGCTCTGCACTCCCGGAGGGGTTAGGGACCTGCAACCAGGCGGGGAC ACTGGCCCAGCGACCTCAGTGTCCCCTGGGTGGGCGTGCACTCTGTTTAGTGTCTGATTG AACGTAACCGTGCCGGGTTGTTCTTTTCCCTCAAGTAGACTTTATGCCATACAGCTATTT TCTTGCCCCAGTTCTAGCAGAATCTAACCAGTGTTCTAGAAGAAAATGTCCTGCCCCCAT GCAGTCTCCTTAGAATTGCAGGGTGCTGCTCAGAACTGCTCCTGTGGAGAGCTTTGTCTG TTGTTTGGATCCAGCAGCGTCTTTGGGGGTGTTGCTTGAAGCTTGCCAAGGAGGAGAGGG GGGTTCTGAAGAGAGAACACCAGGGCTCTAGCCTGTCACATAACTGGGGGTGTGGAGAGC GCCTCATTGCCACTGCAGTGACTAAAGCTGGGAAGACGCTGGTCAGTTCACCTGCCCCAC TGGTTGTTTTTTAAACAAATTCTGATACAGGTAATGATGACTTTATGCTTTTTTTCTTAT GTCTTCTCTTCTGAATTCTGAGTGTTAGGAAGGAAAAGAAGTACAGAAGATCTGGCTAAA CAATTTCTGTATGGCGAAAGAAAAATTCTAACTTGTACGCCCTCTTCATGCATCTTTAAT TCAATTTGAATATTCCAGGTGCTGTGAGCAGTTTGCATATATTAGTTTAAATGTTAAATG GGATAAAATTGTGGGAAAGTGATTTCTGACCCAAGCTTCTTGGTCTGTGAGGGCATAACC TTCTAATGGCCACCTGCCATAGGTTATGATTTCTGTTTTAGTTGCTTAGTGCATGAGCAT AGACCTGGAACCCCAGAGGGCCTGCTCCATTTTTATTCCCAGGGTCATTTAAATCTAGTT GAGCTTAAATGTTTGGAAAGGACACAGGTTTGCTTGAATGAACAAACATATATTGCTAAC AAGACCCAGAGAAGGAAAGTTTAACTTAATGGAAATTAATTTTTAACTCTTTGAATTCTT AAATGATGTAAGAAACATACGTAATTGCATGAGTTTTCCATTTTTACATCTAGACTCCAC AGACAGAAACGTTTCATTTTTATTGAGTTAATTTTGAAATATATGAATCCCTGACCCATT GTTATCACTAGCTGTTACTCTATCAGGACAGTTGCTGAAGTTTTTTGTCACTAAATTTAA AAATCAACTATCAGGTTGTCCCTTGGATGACCTGAGATTTCTAGAGACAAAAGAAATCTA TTCTTCCTGATTGAAGAAAGAGTCTGAGATTTTTTTTAAACCACTGATTTGGGGATCAGG GTGTAGCCAGTGTCTCAAACTCTCCCCTGTCCCTTTTTGTTTTGCTCAAGGAGTGGGCTT GAGGCCTCAGATTGGGTGTTACTGTTATTTTGATAGGGAAAGGATCCTACTAAAGAGCAC CTTTGATTATTTTGTGTGTTCAAAGCATAGAGCATCAGGAAGCTGGCAATTTCTGAACTT ACCTCATAACAGTTCTGGGAATGAAGAAAAACTACCCACAAAGTTTATTCAGGGGACATA TTGCGGGGGGCGGGGGGGGGGGGAGTTAAAGGAATATGGCAACAGCTACTATTTTTCCCT CAACAGGCGACATCCTCACTGACCGAGCAAAGATTGACATTCGTATCATCACTGTGCACC ATTGGCTTCTAGGCACTCCAGTGGGGTAGGAGAAGGAGGTCTGAAACCCTCGCAGAGGGA TCTTGCCCTCATTCTTTGGGTCTGAAACACTGGCAGTCGTTGGAAACAGGACTCAGGTTT GCTTGTTTTGCTTTGATATTGTTTTCCTTTTATCTATGCAGACTCCCCGACTATCCAAAG CTAACTTCGAAATTGGGAGGCACATGTTCCTGTTCTCAGATCTATCAACTACTCCCTAGA TGGCCAGGCGCGATGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCTGAGGT CAGGAGTTCAAGACCAGCCTGACCAAGGTGGCAAAACCCTGTCACTACTAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAATTAACCAGGTATGGTGGCATATGCCTGTAGTCCCAGCTAT TCAGGAGGCTGAAGCACAAGAATCACTAGAACCGGGGAGGCAGATGTTGCAGTGAGCTGA GATTGCACCATTGCACTCCACCCTGGGCAACAGGGCAAGACTCTGTCTAAAAAAAAAAAA AAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTGCTAAATGACATTGAAAGGGGAACAGAG CTATCTAGAAAAATATGCTGAGGGGTTACACTCTAACTTTGGGGGCTTTAGTTTTGGTTC TGTCATTAGTGAAATTATAATGGCATAGATAAATAAGCTAGTTGTGATTAATTTCCTAAG AAGTTTTAAAACAATCAAGAAATTTCATTAGTGCAGTCAAATGCCAATAGATCTAAATTA TTTGAATTGTAAAAGGAAAGAACAACCTATCTTCACAATGCTGTGTGGATCCTCAAAAGT AAAGTCCATGGTTTACTTATTTTTAGAGCTAGATATTTCAGACTGGAGCTTTAGTATCAA GAATATAGCATGGGCCGGGCGCGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCC AAGGGGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTACTAAAAATACAAAAAATTAGCCGGGCTTGGTGGCAGGCGCCTGTAGTCCCAG CTGCTCAGAGAGGCTGAGGCGGGAGAACGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGTGCCACGGTACTCCAGCTTGGGCAACAGAGCTAGACTCCATCTCAAAAAA AACAAAAAACAAAAACAAAAAACAAAAACAAACAAACAAGAAAAAACAGCATCGAGTTCT TCACTATGATTACATTTACTACAAAACCGAACACAGTTTACCTTTTTAAGTTTAAATGTA ATCACATTCTTAGAAGTTGAAGACTGCAGAAGCTAAGCGTATCTATTCTTTCCTTAAAAG ACAGCCAGAGAGGCATCAGTTAAAATGAACCTCTCTGGTTTCCGAAGAAAGAGTTAATAT TTCACTTTGTATTGAAAAAGCTCCTCCCATTGGCTCCAGCCCTCCAGAAGCAGGAGAGGA AAGAGGTACTTTGTTTACTACAGTTGCAAAGGGTCCCAGTGGATGCGATGATTTTGGAAA GTAATTTGAAATTAGTGACGACTTCACAAATTGAAATAGCCTTCAAATCTTCTCCAACCA AGAGGGTTTGTGAAAGATTATGCCCTGTGGTTATGTGTTTTTACAAGGGAGAACCTGGGG GCTGGGCGCTTTCTTTGCCACCCCCAACCCACAACATCCTTCCTCTGGGCCCCTCTGCAG TCTGTCCACCCACCCTGTCCACCCACCAAAGTCAGGACAGGAGCAGTCAGTGGAGTTGAG TCCTCCTTAAAACTTGCTGAGTCTCCTGCGTTTACTGCCATCCTCCCACCGCTCCTTGAA TGGGAGCGTCTCCTGGGGCAGCCAGGCCTGGCCAGTAATGGCAGCAATGTGCTGGAAATT TGGGGGCTTGATAACCCGCAGCTGACCCATCACCCTGGCCTATCTCTTGACACTTGCGAG GGGAGCTCTCTTCTCCCTGGCTGTTGGCCTGCAGAGAATGATACGCACGGCAGATCCCCG GAGCTGGTTGGTGAGCCCCTCAGGTGTGACACAACCTGGAAAAGAATGGAAAGAGCCACT GTCTCACTGTCTCAGTTGGGAAACACCAGCTCAGGGTCACTGAGCACCCAGGGGCAGCCC ACTCAGGACCGGGCAGGTTCGGAGAGAGGACACAGCTTCTCCCTTGGATCACTTCTGCTG TTAGGAATAACAGGGCCTTTGTGGCTCTTGCAGGAGGACACTCTGAACCAGGAGACTGTC CTGAGTGACCGGGGAGTTAGACACACTTGTATTGGATTTAACCTCATTTTTCTCAGCAAG CTCGGCATCTCCTTTACTTTTCTTCCTTTAAAGGCATAGGTGGATTGCCAATTTTTAGTA CCGGTATCGAGAAGCGCGCATTGTGAAACAGATTATATTCTGTTCAGTTTTGCTATGTTG ATAGAACACCCTCAGACCGTGTGGCTTGGGGACCCAGAAAAATCCAAAGAAATTTAAAAA GCTACTGCCCTTATAATTGTCCCTGTTTTTAGAAAAAAAAAACAGGGAGAAGCCCAAAGC TGCAGAGGTCAGGGACCCTGCTTCTAGAAAGCGTGGACCAGTGTTCCTGGGGGGGAGTTG TGACCTCTTGACCTTTTCTGTGACTTTAGCCTCTCAGAATCATCCAGGCCATGTCCCCCT CTGGCTCCCTGATCTGTTTACTTCCTAGAAGGTTGGACCACAGGGGACCACGGGGTGCCG TTGTTCAGGCAGGCCACGGGCTAGAGAACCGAGAGAACACAGCTGTCTCACCTGCTGGGG AGGTTAAATTCTATGGACTTTGAAGTGTTGGAGAAAATGTGAACCATTTTTTGATAAATC AAACTCTTGCTGATTGGGCATTTTGTTGACCAAATTTCAATGGGAGGTGTTTCTTGGTTA ATAAGAAAACATCTTCATTTTATAAATAAACAGGACTGACCCCATAGGTGAACAGCTGCT GTAAAATATGTTTACACATCAAGACGTACAAATTTCTTGCTCCTCACTGGTCACATTTTG AAATGCTTTTGAGATAGAACATCAACAGTTAGGAAAATGTATTATGTCTTTCATCTGAGA ATAAAATTAATTTTACAAATCATATCATTTAACATGAGCTTTTTAAATGGAGCTGCATTT ACTGTGGACATTGGCCATCTCTTTTGGCTGTGAAATATGTTGTATATGAAAGGGAGGCAT TAGTACATACACTTTAATTATGGAACGCTGGGACCAGGGCTTCCAGAGGAGTCCCCTGTG CATTACCCCAGCAGACACTCACACAGCCTCTGATGAAATGCTTCAAGGGATGAGAAAACA TGGTGTGAAGGGTAGCCCATTTCAATTTTCTTTTTTTTTTTTTTTTAAGAAAAACCTGGC TTTCTGTTAATGCTGAGTGTCAGATCCAGTTCTTAGTCCTAGATCCACGCAGGCATTGAA TCCTCTGTTTCACATTCCAGGGTCACCGCCCTGTGCCTCAGCGTCTTCCTCAAGCTAGTG TTTGTTCTGTTCTCTCGGCTGTGAGGTAACCTCCAGCCTCTTCCATCTGTCCACACACCT GTTGATGCGCCCCCGAGGGCCAGGTCTTTCCTGAAACATGGAAAGAGCCCACCCTTCCAA TGTGGGCTGCCCGGGGAGCCCAGCACTCTGTTCCCTTCACACAGCCTGAGCCTCAGTCTC TTTTTCGCAACCTTGTGCTGTGGCGCTGATGTCCCGCTGATAAGGATGTTCCTCCTAAGG AATACTGATATTCCTGAAGTAAAATGCTAGGCTGCAGTTATTGAAGGAATCATGAAAATA CAACCTCCCAACGATAGCAGAGGCGGCAACAAAGACCATTGTGATTCCAAGACTCGGTGC CATTGCCGTTGTCATAGTTGCTATCACGGAACTCTTAACAAGAAGTTTAGTGACACTGTT TTAGAATGTTGCTGGGGGCTCAACAGAAAGTCCCCCAGTTCACACATATACGTTTTCTCT TATTTTAAAAATCAAGATATTTGCCCTTCTCCAGGAATTGGGCCCCTCTTTTCATTCTGA ATAATAATATTCTGCTCTCCTGTGGAAATGCTTAAAGAATTGAACATAGAATAACCATGA GATCCAGCAATCCCACATCTAGATACCTAAGAGACTTGAAAGCAGGGTCTTGAAAAAATA GTAGTATACCCTCACTCACAGTAGTGTTACAACAGCCAAAAGCTGGAAGCAACCCAGTGT CCATTGATAGATGAATGGGTAAACAAAATGGGGAGCATCCATACGGTGGAATAGTATTCA GCCTCCAAAATAAGGAAATCCTGTCACACGCAGCAACATGGATGAACCTCGAGGACATTA TGCTGAGTGAAATAAGCCAGTTCCAGAAAGACAAGTGCCGTGGATTTCTACTTATATGAG GACTGTAGAGCAGTCAAAATCATAGATGCAGAAAGTAGAATGGTGGTTGCTAGGGGCTGG GGAGGGGGGAATGGAGAATTGTTGCTTAATATTAATACCCAACCAAGGGCAAAAAAAACA ATTTCTCAGAAAGCCAACGGAACTAGGAGTCGGACTTTTCCAACAGGTCTGCTGACTTTC TAAGTCTACAAAAGATGTTGCCTTGGGGCACACAGTAGCACCCCACTCTGAGGCCAAGGC ACTCCTGGGTGGGGAGAGGCTGCCTCCATTTACCCCACTGCTTCCAAGAGCAGCCAGCGT AATGCAGAGGGGCAGGTGTGTGGGCCAGAGCGTGAGGTCCAGGGGGCTGGCCTGAGAAGG GGAGGCTGACAGGTGTCCCTCACCCACTCAGGGATAAGAAAGTCTAAGACCGGTGAAGAG AAGGACTTTGGTGACTCCCTCATGCCCCGACAGCCTGTAAAAAAAATGCCTGAGTGAATT ACTCTGGGGAGAGGTCTTTTACTTTCTGAAAATTTTCAAAGGGTCCATGATACCTCCTTT TATTTTTCAAAGGAGAATGCTGACCAATTCTATAGTCTTCTGTGGCAGTATAGGCTAAGA AGGCAGCTGTTTGAATTATAGCAAAAGTGTCCATAGCTGTAAAGAAGTCCTTTTTCTCTC GGGATAGAGAATCAGTGCATTAACAGGGAAGGAGGCACTGGGTGGCAAGGGCAGCAGATC CCCTCCTCGGCTGCCCCTGGCGCAAACAGGACCCGCTGGGGAGGCAAAGCCAACGTGGGC TTGGTTATACTGCAGATATATTGGAGAACAATGGAGCAATCTTTATAAAAGATTGTGAAT CTCTTTTAGAAGAGGCTTTCTCAGTAGTTGACAATATTAGATTTCCTAAGAACACATGAG TATGGCAGATGATGTTATTCAAGCTAGAATTAAGTATAAATATATTGTATAAAGTAAGCT AATAAGTATTTTGTTTTTTCCCTTCTTAGTCTGTTGGGTAAACTAGAATATGTCATTCCA ATGAAAGTTTTTTTTCCCCCTGAATAAGCTATTTAATGAATAAAATCTACTGTGGAAGCT AGGTGAGCCCTAGGAGAAAGCCAATCTGGTGTAATGGATCAGACAGTGATTAAAAGGGAG CTTGGAAATGAATTTGTTTACCTGTGTTCCTGGATTAATGCAAACAGCAATCTAATATAT GATCTGAATTTAGTTGAATCAAGATGATCCTAACCCCTCTTCCAAAAAGTTGTTTCTGAC CAAAAACATGATAATTTTTTTTTTTTCGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGG GTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCACCTCCCTGGTTCACGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCAGGCTAATTTT TTTTTCGTATTGTTAGTAGAGATGGGGTTTTACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGTTTCCAGGCGTGAGCCA CCACACCTGGCCAAACATGAGAATGCTTTCAGGGTGGGCATTCCTTTTCAGAAAACCTCA GACTAGCAGGGCAGGGAGTTGAAGTTGTAAAGTATCACAGCCTACCTTAAAATAAAGTTG GCTTCAGTCTGTAATATCACCGTGTCACTTTCCCAAGGCCTCTTCCACTAATAAACCTTT GCCCACTTTTGTCTGTTTAGGGATAAACCAGCGCAATGGATTGGGGGACGCTGCACACTT TCATCGGGGGTGTCAACAAACACTCCACCAGCATCGGGAAGGTGTGGATCACAGTCATCT TTATTTTCCGAGTCATGATCCTCGTGGTGGCTGCCCAGGAAGTGTGGGGTGACGAGCAAG AGGACTTCGTCTGCAACACACTGCAACCGGGATGCAAAAATGTGTGCTATGACCACTTTT TCCCGGTGTCCCACATCCGGCTGTGGGCCCTCCAGCTGATCTTCGTCTCCACCCCAGCGC TGCTGGTGGCCATGCATGTGGCCTACTACAGGCACGAAACCACTCGCAAGTTCAGGCGAG GAGAGAAGAGGAATGATTTCAAAGACATAGAGGACATTAAAAAGCAGAAGGTTCGGATAG AGGGGTCGCTGTGGTGGACGTACACCAGCAGCATCTTTTTCCGAATCATCTTTGAAGCAG CCTTTATGTATGTGTTTTACTTCCTTTACAATGGGTACCACCTGCCCTGGGTGTTGAAAT GTGGGATTGACCCCTGCCCCAACCTTGTTGACTGCTTTATTTCTAGGCCAACAGAGAAGA CCGTGTTTACCATTTTTATGATTTCTGCGTCTGTGATTTGCATGCTGCTTAACGTGGCAG AGTTGTGCTACCTGCTGCTGAAAGTGTGTTTTAGGAGATCAAAGAGAGCACAGACGCAAA AAAATCACCCCAATCATGCCCTAAAGGAGAGTAAGCAGAATGAAATGAATGAGCTGATTT CAGATAGTGGTCAAAATGCAATCACAGGTTTCCCAAGCTAAACATTTCAAGGTAAAATGT AGCTGCGTCATAAGGAGACTTCTGTCTTCTCCAGAAGGCAATACCAACCTGAAAGTTCCT TCTGTAGCCTGAAGAGTTTGTAAATGACTTTCATAATAAATAGACACTTGAGTTAACTTT TTGTAGGATACTTGCTCCATTCATACACAACGTAATCAAATATGTGGTCCATCTCTGAAA ACAAGAGACTGCTTGACAAAGGAGCATTGCAGTCACTTTGACAGGTTCCTTTTAAGTGGA CTCTCTGACAAAGTGGGTACTTTCTGAAAATTTATATAACTGTTGTTGATAAGGAACATT TATCCAGGAATTGATACGTTTATTAGGAAAAGATATTTTTATAGGCTTGGATGTTTTTAG TTCTGACTTTGAATTTATATAAAGTATTTTTATAATGACTGGTCTTCCTTACCTGGAAAA ACATGCGATGTTAGTTTTAGAATTACACCACAAGTATCTAAATTTGGAACTTACAAAGGG TCTATCTTGTAAATATTGTTTTGCATTGTCTGTTGGCAAATTTGTGAACTGTCATGATAC GCTTAAGGTGGAAAGTGTTCATTGCACAATATATTTTTACTGCTTTCTGAATGTAGACGG AACAGTGTGGAAGCAGAAGGCTTTTTTAACTCATCCGTTTGCCAATCATTGCAAACAACT GAAATGTGGATGTGATTGCCTCAATAAAGCTCGTCCCCATTGCTTAAGCCTTCA OMIM ID 604418