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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for GJB3 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 2707 Official gene symbol GJB3 Full name gap junction protein, beta 3, 31kDa Aliases ,CX31,DFNA2,DFNA2B,EKV,FLJ22486,MGC102938, Gene summary This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq] Location Chromosome: 1   Locus: 1p34 Gene position 35246790 - 35251967  Map Viewer Gene orientation plus Gene size 5178 bp Gene sequence >GJB3:5218708..5223885:Length=5178 GAACTTCTTTCCTGGCACAGGACTCACTGTGCCCCTTCCCGCTGTGGGTACAAGGTCTGC CCCCCACCCCAGCTCTCCAAAGCCCACCGGCCTCCCTGGAGGCCGAGGTCGACGGCCCGT CGCACCGGGAGGGGGGGCTCCCAGGGGTGCCCCACGCACGGTCAAGGTCCCGCGCCAAGC GGGGACCGGGCTGGGCCGGAAGCGGGCACGGTACTCGCGGCAAACTAGCGTGGGCGAGTC CTGATTGCAGTCGGACCTGCCGCCGCGGCACTTAACAGTTTGCAGAGTGCTTCCCGCCCC TGATCTCATTGGAGCCTTCGGACAGCCCAGCCCATGGCCACCGATGCCCCCATTTCACGC CTGAGGAAGCGGAGGCTCAGACGGGCCACCAGCCCCTCCGGAGGCTGGCCCGGGAGCGCC TGGCAGCGTCGGGTCTAGGAGCCGGCTCCCTCCTGCTCCCTCCTCCGCGCCGCCCGGGGT GTGCCCGCCGTCTGTGTGCACCACTGCTGAGCCCAGCTCCGGCGCCCTCGCCTCTGCTGT GGGCCCCGGGGACGCGGGGTCAGGCCACCGCGTTGGCCAGGCCGCTGCAGGTAAGTGCTG GACGGGGCGGGGCGAGGCTGGGCGGGACCCTCAGGGGCGCCAAGCGCTCCTGGCGACCCC CTGCGGCAGGGCTGGGGCTTGAGCCTGCCAGTGCGCTGGGATGGGGCGCGAAGCGGGGGT GCGGGGAGCCCGCCACCCCGTACCTCTCAATCCTCCCTCTCGCCTCTCAATTCTGGGCCC ATTAGGGGTCCCGGCTGCGGGAAGGTTCCGAGACACCCCCTCCCCAAGTCCGCAAGCTCC CAAGCTGCCTAGGATGGAGGGAAACTGGGAAGGAAAGGGAGCTTTATCCTTCAGGGACAT TGTGGGGCGGGAGGTAGGGCTGGGCACAGTACAGTCTGGGGGTCAGGGAAAAAACGGTTG CGCTGGGAGCTGGCTTTGGAGGGCAGCTGGGGGAACCAGAACCGGCTCCACCAGTCCCCA GCCTAGACTTGGGAAGGAAATTCTTTGCCAGTGAAGCTCCTCCCTGGGGTGTGTCAGGAG GGACTGGGCAGACAGCACCCAAGGGTAGAAGATGGGGGCCCAGGAGGGAGCTGCACCCTG GTGGGCAGCCATGGGAGTGTGTCAGGTGGAAGCAGCCGTCAGGGTCCCTCTCTGCTCTCT GTCCGGACAGACAGGGCTCCAACCTTCACTTCAGTTCTTGTGAACTCCCACCAGGTGAGT AGCAGCCTGGGAGGGAAGAGTCTCAGGATTCTACCAGAAAGTAGGAATTATTTCCCTTTA GAGATTAGTAAATAGGGTCAATGAGATTAGGGAATTCTTGGAAGTCGCCCAGCTACTAAG TGGCCAAGCTGAGGTTTGAATCCAGGTGGAACTCCGTGTTCCATGCTATCCCACTCCCTT CCCCCACCACGAGGGCTTAGAAGGAGCAGAGTAGGGGAGAAGAGGAGGGTTTCCAAGAAT GAGGTCTTCCCAATCACCCCATCCTGCCCAGACTGTGATTCCCAGAGGAAACGCAGCCAG GAGAGCCAGGTGCTGAGAAGGAACTGTGCTCTCTCCCTCTCTCCAGTGTAGGGAAGTCTT TCCCCCAATCCCCCTGACCAGGCTGCCCCCTGACCAGGATCCTGCCCACCCTCCTGTCCC CTCCCTCCAAGCTGCCTTGCTGAAAACTCAGCATTCATTTGTTTACCCATTCAGCGCTGA GTGCCTACTATGTGCCAAGCACTGGGCACTAAATATAAAGCAGTGAGCAAGACCAAGTTG ACATTCTAGAGGGGGAGCCAGATAATTAATAAGACCAAAAAAAAAGGACAAATTCTTTAA TTTCAGATAGTGACTAAGTGCTATAAAGAAAACAGAGGGGGCTGGAAAAATTAGGTGGGC ATAGTGGTGTGCACCTGTGGTCCCAGCTACGTGGGAGGCTGAGGTAGGAGGCTCCCTTGA GCCTGGGAAGCAGAGGTTGCAGTGAGCCAAGGTCGCACCACTGCACTCCAGCCTGGGCGA CACAGCAAGGCCTTGGCTCAAAAAAAAAAAAGAAAGGGGACAGGAACAGAGTGACAGAAG CAGGGGCTCTTTCAGACCCAGGGTAATCTGGAGAGGCCTCTAAAGAGATGAGGTTTGAGC AGAGGCCTCTGTGATGAGAAGGATCCACCCATGTGAGGTTCTGGAGGAAGAGCATTCCAG GCAGAAGGAATCAGTAAAAAGCCCCCAAGGCCCTTATTCCAGGGTGGCAGGGTGAAAATG TCGAATCTGGGGTTTTGCTAAGCCTAGCGAGAAGCTAGTAGAGTCTTAAACAAGGGAGTG GCATGAACTGATTTAATGGACTCTAGGGGCACAGGGGGAAGGTGAAAAGCCAGTAAAGAG GCCATAATACAGGCCAGAATAATAGTGGTTTGGGGCAGGGTGGTGGCCTCGCAGGCATCA CGCATGCTCAGAGGTGCAAGTCAGCTCCAGGGGGACTCACATGCACATAGGCCCACACAC ACACGTGGACAGGCAGGCGGGTGCTCTCACACCCACAGCAGCACAGAAACAAGGCACACT CAGGCAGACCCACCCGTCCACACCCTCTGAGTCACTCCAGGACTGGGAGGAAGATGTGTG AGTTAAGGCCTGAACAAAGCACATCTTTCCACCACAAGGCCCTGGCAACTAGTGTGGCTG GGGGTGGCTGGGCTTCCCCAGGCCCAGCACAGGGAGCAGGGAGTTTTCTCTAGATATTCC CTGGATCTAGTGTCCTCCCAGGAGTCAGATCATAAGGCTCCATGCACCCCCCACCTGAAC TGGTCTCCCCTCTTCACCACCCAGCAGCTGTGAGACCTTGAGCTGGTTATTTCTCCTCTC TGAGCCTCAGTTTCCCTGCTGTAGAATGGGACTCATAACTGCAACTTCACAGTATAGTAG TGAGGCATCCACAAAGTAAACGTTTCAAGAATCTGGTCTAGGGCAGGAGTCCAGCGGAGA AGGGAAGAGGAGGTGGTGGAGAGCACAGGCTCTGGTACCCAACAGCCTGGCCTTGAATCC ACCTCTTGTTTTAAGTGAGTGACTTGACCTCTCTAAATTTCACAGTAATGAGTAGCCAGC ATTTATGGGGCACTTACTATGTACTACTTGCTTTGCAATCGTTCAATGATCAGTTTCATC TGTAAGTGAGGAGCACTGTAATAACTACCTTATGGGGTCATTCTAAGAGATTAAATGAGG TTCTGCTCATAAAGTGTTTAACTTCATGCCTGACTCTGAGTAAACACTCAATAAATGGTG ATTGTTATTATCAGCCAAAGCATATTTGCTTCCTTCCAGCATACTAGCTCTGTTGCCTTT GGTTAAGTTATATAACCTTGCTGTGCCTCAGTTTCCTATCTGCAGCTTGGGAGGAATAAC AGTTCTGAACTCAGAGGGTCGTTGTGAGTATTGAACAAGTCAGAACTCAGAACACTGCCT GGTACATAGTAAATGCTCAATAAAGTCACCTATTCATTCATACGATGGTTTTTCCTCTAA TTCTCTCAGGTAGGCACGGCCCCCACCAGGCGCCATGGACTGGAAGACACTCCAGGCCCT ACTGAGCGGTGTGAACAAGTACTCCACAGCGTTCGGGCGCATCTGGCTGTCCGTGGTGTT CGTCTTCCGGGTGCTGGTATACGTGGTGGCTGCAGAGCGCGTGTGGGGGGATGAGCAGAA GGACTTTGACTGCAACACCAAGCAGCCCGGCTGCACCAACGTCTGCTACGACAACTACTT CCCCATCTCCAACATCCGCCTCTGGGCCCTGCAGCTCATCTTCGTCACATGCCCCTCGCT GCTGGTCATCCTGCACGTGGCCTACCGTGAGGAGCGGGAGCGCCGGCACCGCCAGAAACA CGGGGACCAGTGCGCCAAGCTGTACGACAACGCAGGCAAGAAGCACGGAGGCCTGTGGTG GACCTACCTGTTCAGCCTCATCTTCAAGCTCATCATTGAGTTCCTCTTCCTCTACCTGCT GCACACTCTCTGGCATGGCTTCAATATGCCGCGCCTGGTGCAGTGTGCCAACGTGGCCCC CTGCCCCAACATCGTGGACTGCTACATTGCCCGACCTACCGAGAAGAAAATCTTCACCTA CTTCATGGTGGGCGCCTCCGCCGTCTGCATCGTACTCACCATCTGTGAGCTCTGCTACCT CATCTGCCACAGGGTCCTGCGAGGCCTGCACAAGGACAAGCCTCGAGGGGGTTGCAGCCC CTCGTCCTCCGCCAGCCGAGCTTCCACCTGCCGCTGCCACCACAAGCTGGTGGAGGCTGG GGAGGTGGATCCAGACCCAGGCAATAACAAGCTGCAGGCTTCAGCACCCAACCTGACCCC CATCTGACCACAGGGCAGGGGTGGGGCAACATGCGGGCTGCCAATGGGACATGCAGGGCG GTGTGGCAGGTGGAGAGGTCCTACAGGGGCTGAGTGACCCCACTCTGAGTTCACTAAGTT ATGCAACTTTCGTTTTGGCAGATATTTTTTGACACTGGGAACTGGGCTGTCTAGCCGGGT ATAGGTAACCCACAGGCCCAGTGCCAGCCCTCAAAGGACATAGACTTTGAAACAAGCGAA TTAACTATCTACGCTGCCTGCAAGGGGCCACTTAGGGCACTGCTAGCAGGGCTTCAACCA GGAAGGGATCAACCCAGGAAGGGATGATCAGGAGAGGCTTCCCTGAGGACATAATGTGTA AGAGAGGTGAGAAGTGCTCCCAAGCAGACACAACAGCAGCACAGAGGTCTGGAGGCCACA CAAAAAGTGATGCTCGCCCTGGGCTAGCCTCAGCAGACCTAAGGCATCTCTACTCCCTCC AGAGGAGCCGCCCAGATTCCTGCAGTGGAGAGGAGGTCTTCCAGCAGCAGCAGGTCTGGA GGGCTGAGAATGAACCTGACTAGAGGTTCTGGAGATACCCAGAGGTCCCCCAGGTCATCA CTTGGCTCAGTGGAAGCCCTCTTTCCCCAAATCCTACTCCCTCAGCCTCAGGCAGTGGTG CTCCCATCTTCCTCCCCACAACTGTGCTCAGGCTGGTGCCAGCCTTTCAGACCCTGCTCC CAGGGACTTGGGTGGATGCGCTGATAGAACATCCTCAAGACAGTTTCCTTGAAATCAATA AATACTGTGTTTTATACA OMIM ID 603324