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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for GJB4 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 127534 Official gene symbol GJB4 Full name gap junction protein, beta 4, 30.3kDa Aliases ,CX30.3,EKV,MGC21116, Gene summary This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment. [provided by RefSeq] Location Chromosome: 1   Locus: 1p34.3 Gene position 35225342 - 35229325  Map Viewer Gene orientation plus Gene size 3984 bp Gene sequence >GJB4:5197260..5201243:Length=3984 AAACAGACAAGCCCAAGGACAAGGAAGCAGCTACTGGACCCAAGAAGGGTGAGGACCGAA TAGGGCAGGAGGCTGGCCAGGAAGCAAGCAACCAGCTGAGCTGAGGATATCCAAGGGACC TCAGGCTGTGGGCTGGGCTTCAGGGAGGGAGCCAGAGGGTCAGTGTCCCTAGAGGATCCC CAGGGAAGTGCCAAGGAGGAGAAGGAATGTCCTGGCTGACCTAAGGGACGACAGAAGATT GGGGAAGAGGGGGTATCAGGAAGAAATGGGTTTCAGTTCAGTTTAACAAACATCTATTGT GTGTTCACTGGGCCAGGCCAGTGCTAGGTGCTAGGGAGACAGAGGTGAAGAGCCTGCCCT CTAGCAGCTGACAGCCTGGCAAAAAAATAAGACAGGTAAATAGACCATTTGGGTACAGGC GATGCCTCTTGCTCTGAAAGTGTCCCAGGCACACGATGTCTGAAGAGGCTGAGAGCAGAG TCAGGGATTGGGGATGGGGAAGGAGGAGGGTAGGAGGAGGGGAGGGTTGGACATGGGGCC TGATGGGGACTCCAGACAAGGGGGTGTGGAGGTCAGAGTCCACAGGAGAGGGGCCTGAGA GGAAATAATGGAAATGCGGCTAGCAAACAGCCACTAAATGGACAGAGGAGGGGGTGCCCC CAGAGAAAGTAAATGGGGGGTCCAGACCATGCCAGAATCCATCCTCAGTCCTTCCTAAAG CTGGAATGGTTGGAATTCCAGAGGAACCCACTGTGGTCAAGACAGTCAGCCCTCAGGCCC CAGCACCAGTACACGGGTTGGCAGGGATGATATCAAGTCCCCGTGATTCCAAAGCACCTC TGTTTAGTTTGGGAGGGAATGCCAGGGCTGAGAACCTTCCTGGAGCCAGAGGCAAGGAGT AAGGATGCAGATTGTTCTGGGATTTACCAAGGGGCTGATGTGAACGTCCCCAACACGGGG CCAGGCTCTTGTTGGTGTTCAGTAAAAGTGGGATGGATCTGACAACTGATAAGGATACGT TCCCACCCCTCCTGCCCTGGCCCAGCCCTGGCAGCTGATGGGAGAGCAGATCGTCCAATT CAAGCCTTCCTACGGTCTCTTTAGAAGACATGGGCTGAAACTTGGGGTAATAGAGGTTGG CTGGCATATCCATGCAGGATGATTGTCTTCACATGTATCTATTACCTTGTAGAATAAGGT AGACCCTGATTTTGGAACCTGAAGACCAAAGTGCAAGATTAGCTCTGCTACTTCCATCTG TGGACCATTGGGCAGGTATCTCTGGGCCTTCACTTACTCTTTGTGAAATGAGGACAGGGG CAATCCCTACCCTACCAAGTCATTGGGAGTGAAGACATGATGACACGGTGATTGTGAAAA GATTTTGTCAATCGCACCAGCATTAAGGGTGCCCATCTCCAGGTTCCCCCAGGCCTCAAG GCTCCCAAGGCCTGAGTGGGCAGGTAGCACCCAGGTATAGACCTTCCACGTGCAGCACCC AGGACACAGCCAGCATGAACTGGGCATTTCTGCAGGGCCTGCTGAGTGGCGTGAACAAGT ACTCCACAGTGCTGAGCCGCATCTGGCTGTCTGTGGTGTTCATCTTTCGTGTGCTGGTGT ACGTGGTGGCAGCGGAGGAGGTGTGGGACGATGAGCAGAAGGACTTTGTCTGCAACACCA AGCAGCCCGGCTGCCCCAACGTCTGCTATGACGAGTTCTTCCCCGTGTCCCACGTGCGCC TCTGGGCCCTACAGCTCATCCTGGTCACGTGCCCCTCACTGCTCGTGGTCATGCACGTGG CCTACCGCGAGGAACGCGAGCGCAAGCACCACCTGAAACACGGGCCCAATGCCCCGTCCC TGTACGACAACCTGAGCAAGAAGCGGGGCGGACTGTGGTGGACGTACTTGCTGAGCCTCA TCTTCAAGGCCGCCGTGGATGCTGGCTTCCTCTATATCTTCCACCGCCTCTACAAGGATT ATGACATGCCCCGCGTGGTGGCCTGCTCCGTGGAGCCTTGCCCCCACACTGTGGACTGTT ACATCTCCCGGCCCACGGAGAAGAAGGTCTTCACCTACTTCATGGTGACCACAGCTGCCA TCTGCATCCTGCTCAACCTCAGTGAAGTCTTCTACCTGGTGGGCAAGAGGTGCATGGAGA TCTTCGGCCCCAGGCACCGGCGGCCTCGGTGCCGGGAATGCCTACCCGATACGTGCCCAC CATATGTCCTCTCCCAGGGAGGGCACCCTGAGGATGGGAACTCTGTCCTAATGAAGGCTG GGTCGGCCCCAGTGGATGCAGGTGGGTATCCATAACCTGCGAGATCAGCAGATAAGATCA ACAGGTCCCCCCCACATGAGGCCACCCAGGAAAAAAGGCAGGGGCAGTGGCATCCTTGCC GTAGCAGGGTGGTGAGGAGGGTGGCTGTGGGGGCTCAGGAAGCTCGCCCAGGGGCCAATG TGGGAGGTTGGGGGTAGTTTGGTCCCTGGGTCCTGAGCCTCAGGGGAGGGAGGTTGATAG CTACTGGGGATTTTGTATATGGCAACAGTATATGTCAAACCTCTTAATAAATATGATTTT CCCAGTACTTTGCAGACCAGGTGGGGAGTGGCCGATAGGAAAACGGGGGGCAGGGGGGAT TAGGTGGACCTCAGAGAGGATGCCAAGACTACTCAGTGAGCACCTGAGCACTGGAACCTC AGATCCAGGCTCACCCATCACCCCCCAACACACACAGTGTGTGCCCCCAGAACATGATGG GCTGTGCCCAAAGGCAGAGGCTACTCCAGGGGCCTCTGGGTTGTGCAACCACCTGGCCAA AGCAGGAGGAGAGGAATTCCAGGAGACCCTGTGCCCAGCAGGAGTCAGTTCTCAGTGATC GTCCATCACAGGAATGAGCGTGGGTTGGGCCTCCCTAGCCCTGCCCAGCACAGGTCCCGG ATAGGTGAGTCCCCTCTGACGGTGGGAGGGTCACGGCTGAGAGCAAGCCAGGGATGGGAA TCTGTCAAGGTGCCCAAGAGGCACATCCTACAGGCCAGGGCCCACTGAGAGTGTCTGAGC TGAAAGGTCCCTTGTGGATCCTGGAGTCTATGGAATTTCATGTTCTTTTTCACTGATACA ACTTCCCCATCCCATACTCCCCCACCCCACCACCACTCAGACTTTGGCAACTCCCAGAAC CACACCTCCACCCTAACATGCCTCTGAGTCCCACCAAATGCCCACTAGACAATTCCCTGG GAGGCCCCCAGGCATCTCATACCCGCCACTCCCAAGCTGACCTCATCAGCTCACCCAGAC CTGCCCCCTTGAAGATGCCCCACCCCATCTCATGCAGGACACAGCTATTCACCCAGCTGC CCAAGCCAGGGGACGAGACAAGCCTGACATCCTTGTCCCTCACACCCCACACCCCCACTG GCACCAAATCCCACTGATTCCAGTCCCTAAATGCCACCTGAATCTGCTCTTCCTCTCCTT ACAACAACCTAACTACCTCCTGGACCTCCCCCATCTGCCCTCCGCTACAGGGATGGAGTG ATTTATCTGTCTATGCAACTGACCATGTCATTCCACCTGCTTTAAAATTTCTTCCACCAT CACCAGCCCCATGCCCTCAGCATGGCCCCCGCTGACCTCCCCACCTCATCCCAGCTTCCT CCCCTTTTCTACCTGCAAGTAATACCAAAGGGCTCCTGGTTCCCCAGGCAGACACGTCAT GTGGTGTCATTCCTCGTGCCTTTGTCATGCTATTTCCTCTGGCTAGAATGCCCTTCCCAC CCCCTCTGTGATCCTCCCTCGAACCTCTAGGACAGCTTTACCCATCTCTCTAAGTGCCAG CCTCGCTTGTCCCTCTGCCACTCTCCCCAAATCGGAATTGTCACTTCCCCTGAGTGTCTC CCTATCAGTCTGTGAGCCCTTAATGGGCAGGTCACTGAGTCATCCAGGTCCCTGCTGCCT TCAATAAATGCTTGTTAGATGAGT OMIM ID 605425