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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for GJB2 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 2706 Official gene symbol GJB2 Full name gap junction protein, beta 2, 26kDa Aliases ,CX26,DFNA3,DFNA3A,DFNB1,DFNB1A,HID,KID,NSRD1,PPK, Gene summary This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq] Location Chromosome: 13   Locus: 13q11-q12 Gene position 20767114 - 20761602  Map Viewer Gene orientation minus Gene size 5513 bp Gene sequence >GJB2:complement(1741602..1747114):Length=5513 GGGGTGCGGTTAAAAGGCGCCACGGCGGGAGACAGGTGTTGCGGCCCCGCAGCGCCCGCG CGCTCCTCTCCCCGACTCGGAGCCCCTCGGCGGCGCCCGGCCCAGGACCCGCCTAGGAGC GCAGGAGCCCCAGCGCAGAGACCCCAACGCCGAGACCCCCGCCCCGGCCCCGCCGCGCTT CCTCCCGACGCAGGTGAGCCCGCCGGCCCCGGACTGCCCGGCCAGGAACCTGGCGCGGGG AGGGACCGCGAGACCCAGAGCGGTTGCCCGGCCGCGTGGGTCTCGGGGAACCGGGGGGCT GGACCAACACACGTCCTTGGGCCGGGGGGCGGGGGCCGCCTTCTGGAGCGGGCGTTTCTG CGGCCGAGCTCCGGAGCTGGAATGGGGCGGCCGGGGAAGTGGACGCGATGGCACCGCCCG GGGTGCGAGTGGGGCCGGGCGCGCGCGGGAGGGGAAAAAGGCGCGGGCGAGCCGCCAGCG CGAGGTTTGTGGTGTCGCCGATGTCCCTTCGGGGTACTCTAGCGCAGCCGCCTGGCTACT TGACCCACTGCCACCAAACGTTTTAAATTCACCGAAAGCTTAGCTTCGAAGCAAAGCTCC GTTTCGCCGGTGAAGCAGGAAGCCTTCGCTGCAGGAACTGACCTTTACCTCTTGGAGCGG CTTCTGCAGAAAAATCCCCGGGCAGAGATTTGGGCGGAGTTTGCCTAGAACTAACGCGGA GCCAGCCGATCCCGGCCTACCCCGGGGCCAAGATTTCAGTGGCTTCCCTTTTTCCTAAAC ACTTCACGAGGGTCTGTTTCCGGGCTGTGCTCCCCGCCTAGAAGGAAAATTTTTAGGACC CTTGTTCGCGAAGAGGTGGTGTGCGGCTGAGACCCGCGTCCTCAGGACGGTTCCATCAGT GCCTCGATCCTGCCCCACTGGAGGAGGAAGGCAGCCCGAACAGCGCTCACCTAACTAACA GCTGCTGAGAGCTGGGTTCCGTGGCCATGCACCTGGGACTGCCTTGAGAAGCGTGGTACG GCCGTGTCCCCATGTGACCTTAGAGTCCCTTTCGAAACTGCTGTGCACAGTCGGTCACAA TTTCAGACACTGGTGAGAAGGGTGGAGGAACCCTCTGGGGACAGCCAGGCAAGGTCGACC ACCCATCACCTAAGGGTGGAGAAATTTAAGGGGTGAAGAGTCCCTTTTGCCTTTTCTGGA TCCTGGTGATTCACCTAGTGTCTTCCCTAAGGAACTGAACCAACTCCTCCGCTGGCCTCT GGCAGCCCTCCAGGCGGTGCAGGATGGCGTGGGCCCGGTAGGAAGCTGCATGTAACCGCC CAGGGTCGGGAGGCCAGGAGGGCAGCTCCTCCTCTGACTTGAATATTGAAAACAACTTCG TCCTGCTTCTGAGCCCCTCTTAACCCATGACCCCCTAGCCCATTGGGGAGTAAATCTTAA TTTACTCCTCTTCCTGAAAAAGGATCTTTAAAACAGGTAGCTTCAACTCAAGCTTTATAA AATAACAATATAGGGTTTCTCGGAACTGTATTTTTCTCAGCTGATGGTAACTGGACAGGT CTGTAGAAGGGTGTATGACCTGGGTTTGGCAGGTGGAAGAGGGCAAAGGATAAACCCCTC CTCCTGCAGCCCCATATTCTTGGCCAGGTGTATTGTTGTAAACCAGGAGAGAGTTTACTT CGGGGAGTATCCTGTTTTCCACTCAGTGAGGGCCAATGAAGAATGTCTAATTCCATAAGA TGCTTTTGTTAAAATCGGAATGTTGCTGTCCTCGGTGGTTCTGCTGTTGGGACGGGACTG GCCTGAGCTGTGGGTGCTGTAGCAGGACAACCAGCTCACCTAAGGGCCTCCCAGTCTGGA TTATCAATGGGTCAGTGCTGAACCTGGGCTAAAATATTGTTTTTTCCAATGATGTTGTCT TTCCCAAGCTCAGTGAAGCTAAATGTTTCACAGGCCTATGTCAATCTGATGTAACTTTCG TGGCCACCTCTCTCCTGTTAGCCTCTGACCAAGGTGGCACTGGATGGTTTCTGCCTGACC TTGGTGCCCCGTGGCAGCGACTGTGGGTCATGAAAGACATTCACTACGAGCCTGCTTCTG GAGTCCATCAGAAAACGGGATGCAACTTGCCTAAAATGAGGAGAGGAGGATGCTTTTAAG AAAAAGAAGAAGGAGGATTCACTACCAGCTCTGAAGGGTGGAAAAGAGATGATTCATCCG GATTGTGGAGAGGGTGGAATCTTGTTTAGGAGAGCGTTGGTTGTGGCAGGCAGGGTGTAA CTATGAATCAGTGAAGACAATTCACATCCTGGGATGAAAAGAAGGCCATGGGCTCACAGG AGATTATCCACTGGCCTCTCCACATCCGCTTGCAGTAAGGAGTGTGGGACTCTCCCAAGC TTCAGCGCTGAACTGCAATGCAGTGACGTCGCTTAGCTGGGCCAGTAACCGAGGGAGTTG AATTTTCTGTCATTTTAAAATAATGTGTCTTTTAAGAAACACTTTGAAATTAAAACCACA GCCCACAATTATAATGCACTGTTGCAGCACTTATCAAAACAGATATGCTAACTGAGCCAT CAGTGCCAGCCTGACAGTGAGGCCACCAAGCCATCCACAAAGCCTACACGAAAGTCTGTG CTCACAGTGGCTTTTCTCCATGAAGAGGGCATTCCTAACCTCTTCCTTTCACGTAGGAGG AAGCAAGGTCCTTTGTAAAATTTTAACTCGGGGTGCCTCAAATGTAAACTTAACCACTGG TAACAACAGTTTCACTGCTACATGCCACGTCTGTGAAAATTCATTCAAGACATTAAGGAA AGTGGCTCAGCAGAGAGACTAGACATCTTATCCTCACGGTTCTCCTGTACTTGGCCTCTC AGCCTTTGAGCAAGGTTGGCCCAAGCTAGTATCGGCCCCAGTGGTACAGCCAAAACTTGA GACTGCAAATGGATGCAGCTGTTGAACGCTGAGTAACTTCTGCAGAGTCAGGAAGACCCA AGGAAGCTCTGCAGAGGATGCAGGGGTACGGTCAGAACCCCTGAGTGCCTTTCAGCTAAC GAGGACTTTATGACACTCCCCAGCACAGCAAATTTTTATGATGTGTTTAAAGATTGGGTG AATTACTCAGGTGAACAAGCTACTTTTTATCAGAGAACACCTAAAAACACGTTCAAGAGG GTTTGGGAACTATACATTTAATCCTATGACAAACTAAGTTGGTTCTGTCTTCACCTGTTT TGGTGAGGTTGTGTAAGAGTTGGTGTTTGCTCAGGAAGAGATTTAAGCATGCTTGCTTAC CCAGACTCAGAGAAGTCTCCCTGTTCTGTCCTAGCTAGTGATTCCTGTGTTGTGTGCATT CGTCTTTTCCAGAGCAAACCGCCCAGAGTAGAAGATGGATTGGGGCACGCTGCAGACGAT CCTGGGGGGTGTGAACAAACACTCCACCAGCATTGGAAAGATCTGGCTCACCGTCCTCTT CATTTTTCGCATTATGATCCTCGTTGTGGCTGCAAAGGAGGTGTGGGGAGATGAGCAGGC CGACTTTGTCTGCAACACCCTGCAGCCAGGCTGCAAGAACGTGTGCTACGATCACTACTT CCCCATCTCCCACATCCGGCTATGGGCCCTGCAGCTGATCTTCGTGTCCACGCCAGCGCT CCTAGTGGCCATGCACGTGGCCTACCGGAGACATGAGAAGAAGAGGAAGTTCATCAAGGG GGAGATAAAGAGTGAATTTAAGGACATCGAGGAGATCAAAACCCAGAAGGTCCGCATCGA AGGCTCCCTGTGGTGGACCTACACAAGCAGCATCTTCTTCCGGGTCATCTTCGAAGCCGC CTTCATGTACGTCTTCTATGTCATGTACGACGGCTTCTCCATGCAGCGGCTGGTGAAGTG CAACGCCTGGCCTTGTCCCAACACTGTGGACTGCTTTGTGTCCCGGCCCACGGAGAAGAC TGTCTTCACAGTGTTCATGATTGCAGTGTCTGGAATTTGCATCCTGCTGAATGTCACTGA ATTGTGTTATTTGCTAATTAGATATTGTTCTGGGAAGTCAAAAAAGCCAGTTTAACGCAT TGCCCAGTTGTTAGATTAAGAAATAGACAGCATGAGAGGGATGAGGCAACCCGTGCTCAG CTGTCAAGGCTCAGTCGCTAGCATTTCCCAACACAAAGATTCTGACCTTAAATGCAACCA TTTGAAACCCCTGTAGGCCTCAGGTGAAACTCCAGATGCCACAATGGAGCTCTGCTCCCC TAAAGCCTCAAAACAAAGGCCTAATTCTATGCCTGTCTTAATTTTCTTTCACTTAAGTTA GTTCCACTGAGACCCCAGGCTGTTAGGGGTTATTGGTGTAAGGTACTTTCATATTTTAAA CAGAGGATATCGGCATTTGTTTCTTTCTCTGAGGACAAGAGAAAAAAGCCAGGTTCCACA GAGGACACAGAGAAGGTTTGGGTGTCCTCCTGGGGTTCTTTTTGCCAACTTTCCCCACGT TAAAGGTGAACATTGGTTCTTTCATTTGCTTTGGAAGTTTTAATCTCTAACAGTGGACAA AGTTACCAGTGCCTTAAACTCTGTTACACTTTTTGGAAGTGAAAACTTTGTAGTATGATA GGTTATTTTGATGTAAAGATGTTCTGGATACCATTATATGTTCCCCCTGTTTCAGAGGCT CAGATTGTAATATGTAAATGGTATGTCATTCGCTACTATGATTTAATTTGAAATATGGTC TTTTGGTTATGAATACTTTGCAGCACAGCTGAGAGGCTGTCTGTTGTATTCATTGTGGTC ATAGCACCTAACAACATTGTAGCCTCAATCGAGTGAGACAGACTAGAAGTTCCTAGTGAT GGCTTATGATAGCAAATGGCCTCATGTCAAATATTTAGATGTAATTTTGTGTAAGAAATA CAGACTGGATGTACCACCAACTACTACCTGTAATGACAGGCCTGTCCAACACATCTCCCT TTTCCATGACTGTGGTAGCCAGCATCGGAAAGAACGCTGATTTAAAGAGGTCGCTTGGGA ATTTTATTGACACAGTACCATTTAATGGGGAGGACAAAATGGGGCAGGGGAGGGAGAAGT TTCTGTCGTTAAAAACAGATTTGGAAAGACTGGACTCTAAAGTCTGTTGATTAAAGATGA GCTTTGTCTACTTCAAAAGTTTGTTTGCTTACCCCTTCAGCCTCCAATTTTTTAAGTGAA AATATAGCTAATAACATGTGAAAAGAATAGAAGCTAAGGTTTAGATAAATATTGAGCAGA TCTATAGGAAGATTGAACCTGAATATTGCCATTATGCTTGACATGGTTTCCAAAAAATGG TACTCCACATATTTCAGTGAGGGTAAGTATTTTCCTGTTGTCAAGAATAGCATTGTAAAA GCATTTTGTAATAATAAAGAATAGCTTTAATGATATGCTTGTAACTAAAATAATTTTGTA ATGTATCAAATACATTTAAAACATTAAAATATAATCTCTATAATAATTTAAAA OMIM ID 121011