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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for GJC2 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 57165 Official gene symbol GJC2 Full name gap junction protein, gamma 2, 47kDa Aliases ,CX46.6,Cx47,GJA12,HLD2,MGC105119,PMLDAR,SPG44, Gene summary This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq] Location Chromosome: 1   Locus: 1q42.13 Gene position 228337553 - 228347527  Map Viewer Gene orientation plus Gene size 9975 bp Gene sequence >GJC2:21855332..21865306:Length=9975 GGGGAACAATGGGGCCCTTGAGGGCCCCTCCTCCAGCCCCCATTGTGCTTGGTGGTGAGA GGTGGCCCTGGCTCGGCCACACACCCTCGGGGAGGACCAGCATCCAAGCAGGTGGAAGGG CTCTGAGGGAGACTGGAATTTTCTGGCCTGGAGAAGGTAGGGTGCTGGGGTCCATGTATG TACCTCATGGGGCTGGGGGCTGTTGCCCCAGGAGACAGCCTCACGCTGTGCCCCTTGGCC TTGAGGCCCCGAAGGAGGGAGGGCTTCCTAGGGCCCAGCCATAGGAGGGTGCACTCCTTG CGCCTGCCACCCCCTCCTGGGCTCCGCTGCTCCACGCAGATGGTGGGGTGGCCCCCCCAC TCCATGTCTGTGTCCTTCAGGCCCAGCTGCCTTCACCGCAGGGTGGGCACCAACCGGTGG GGTCTGCTCTGGGACAGCTGGCAAGCGGGAGGGGGGTGCCTTCAGTACCTCCCCCAGCAG CTGGGGCCCCTCAGGTAGTGATAGGGCTGGCCTCTGAAACACCAGCCAGCTGCATTGTGT CCAGGCCCAGTCCCCCACCCTCAGCGGCCACCTGGAGGTGAGGGGGCCAGCCTGCCCCTG GTATAGACAGACCTGGGGCCCTGCTCAGTCCCCTCCATAGAAGGCCACAAGCCACTAAGT TTGCACTGGGGCCCAGCCTAGGTCTGAAGCCCAGCAGACCCTGTGGTCAAGGATCCAACC CCAGTGCCTGTCAGTGCTGTGATTAACTGGGTGGAGGCCCCCCCGGGGTGCTGGGGCAGG CCCTCAGTGCAAGGAAGGGGCGGCGTGGCTGAGGAGGGGGAGGCCCACACCCCTCTGGGA GGGCGGAGCACCCCAGGGCTGCTGCGCAGGGAGGCCACAGCCCAGGCGCGGGGGCCCCCA TCCCAGAGCTGGATGGCAGTGAGCCCAGGATTCCTGGCTGCTGGGCGTTCAGGAGGGAAG AGACGGGTTCGTGGATCCTGCGGGTGGAGGGCAGGGACAGCCTTAGGAGGCTGGGGTAAT CATCACCCCCTCACTCCCAGTATGGATACCCGCCAGGGCTCGGTTTCTGGAGGGTGTGTG GCTCAGCTCCAGGCCTGCAACAGCCCTGGAGGCTGGCCTGGGGAGCTGCCCAGGCTTCAG CGATGACACACTCCCAGCCTGACCCAGGCCTAACTCGCCCCCTTGGTCCACCTCCAGAGG AGGAACAGCCCCTCACTTCTGGGCCTGACAGCTCTGTTCCTGCTTGGGACCCTGAGGGAG GGAACTCAAGAACAGGCTGCAGGAGGGGCCCACGCATTCACAGCGCCAACAACCCCAGGG AGGAGAGGGCTCCACGGGGGAGGAGGCACCAGCCTGGATGCTGCCTTGCCACCTGCACGT GTGCACGGCCCTGGCAAGGCCTGGGGATCCCACAGACTCATACCTCCACACCACGCTCCT CAGTGTCCCCTCACTCCCCTGACATTCCTGAGCGCCACACCCATGCTCTTGGGCTCCTGG GGGTCTGGTCAGTTCAGGAGCTGTGGCAGGCCATGTAAGGGGAGCCACCATGTGGGCAGG CACTTGGGGTCTTGGTGGGGGCACCTTGCTTTCCTGGGCCTGGTGGGGACTCCTGAGGGA GGCACGTGGTGAGGTTGAGTCTGAATAGGGAGGGTTCATGGCTATGTGTGAGAGTGAGTG TGTGAGCCCAGCTCCATGTTGAGCTCGAGCAGCAGTGTGCATGTGGCAGTGTGCACTGCT TGTGTGTGGGGGGGTGGAGGGAGGAGCGTGCCCTGTGTGTACATGTGAAGGATGCATGAG GATGGCTGGTGCCCACACCCAGTGGGGCCTACTGCTGCACAGGCAGGACAGTGAGGCCGG CCACAGAGCTGCTGGGGCAGAGTGGGCATGGAGGGAGGGTTCCAGGCCTCGGGCTTGGGT CCTAGGTGGCTGAGCTCTGCACCTCCCTCTGGACCAGGGCATCCAGAGGAGCATGGCTGA GGGTGCACTCGGGGCTGACCGTCCCAGGGCCTGGGCTGTCCAGGACAGGCAGCTGGGGGC TCAGGCAGGGACATGGAGGACAGGTAGTGGAGCTGCCACCACAGAGCTGAGCTCTGGGCA TCAGGGTAGGGGGCTACGGCCTGTCAGCGGGTGAGGAGAAATTGAGGCCTGAGGATGGGT GAGTGCTGTAGCCCCCTCTGAGTGAGGACTGTCCCCACACAGGGCCCTGCAGTGGAGTGC AGGGGAAGGAGGGGACTGTGCCTGCAGGAGCTCCAGGGAAGTGGGACTGGGAATCTGCTT TGGACTGTGAGTGGACAAGCGACAGCACAGTGCCTGCCATGCGCTGGGGTACCATCATTT TCGGGGAAGGGAGGAGCCTGCCCCAGGGTCCCGCCTGGTGAACTGTGTGCGTGGGTGCCT GTCTGGTGGCTGCCCTAAACTGCAGAAAACACCCACCCTTCGCGGCCTGCCCTGGGAGGG CCTGGAGATGGAAGGAAATACCTGGGCCCCTGACCCTGTGCTACACCCAGCAGGGCGGGG CTCGTTCTGCAGTGCCTCAGGACCCTTGTTCAGACCCAGGATGAGCAGGAGCTTGATGGG GGAGGGGGCCCGGCTCTGACCGGTGTCCTGAGATACCAGGACACCAGGACACTGGTCAGA GCTGGCCCAGCCAGGTTTGCAGACAGGCAGCCTCAGCTTGGGCCTGCTTGCCCTGAAACC CTTCCCAGAGGTGGCCCCCACTGTGAGCCCCCATGGTGAGTCCCTTTGCTCTTGCTGCGC ACCCCTTTGAAGCCCTTCCTGTGAGCCCCCGATGCCACCAGGGCGAGACCGCCCCCACTG TGAAGCCCCCTTTCACACCCTGGCCTAGTAGCGAGCCCCCATGAGACCCTGGTCCCCAGT ATGAGAACCCTGTGAGTCCCCGGCCCTCCACCAATGCCCACATCCTCCTCTACTTCCCAC AGCCTTCCCTGAGGCTGACCCTGCCTCACCACTCCCAGACCTGGGCCAGGCAGCGTCCTG GCTGGTGGCCTCCTGTGGTCACCCCCCTACCTCGCCCTGACACCTTACTAACCCCAGCAG CTGCCTCCTCCCAGACTCTGAAGCCCAAGGGTGCCTCCAGTTCTTTGGCCAAGCTGAAGC CTCTCCCCACCAATCCTCATTTTGGGCACCCTGGAGGTGTAGCTTTGGGGTGAGATCTCT TGGACTTGTGTGCACATAGTCTGCAAATCCCGGGCCTGGCTCCCTGGGGGCCAGCACCCC TCCCCTCTCCTCCCGTGGGCCTCCACCAAGCCCCTGCTGACAGCCTCATCCTGCAGCACT AGACAGTGCCCACCTCAGCTTGTCCCGCCTCTCTATCATGGTCCTTTCTTTAAGTAGGGG TTTATTTTACAGCACTTTCACAGAAAAGGGCCAAGGTGTGGATGGCTCATGCCTGTAATC CCAGCTCTTTGGGAGGCTGAGGCAGGATTGCTTGAGGCCAGGAGATCAAGGAGACGATGG TGAGTTATGATTGTGCGGCTGCACTCCAGCCTGGGCGACAGAGCGAGACCCCATCAAAAA AAAAAAAAAAAAGTAAATAGGGTCTGGCTCTGTCACCCAGGATTGAGTGCAGTGGTGTGA TCTCGGCTCACTGCAATCTTTCCCTCCGGGGTTCAAGCGATTCTCCCACCTCAGCTTCCC GAGTAGCTAGAAGTACAAGCGCACCACCATGCCTGGCAAATTTTTGTATTAAGACCCCAT TTCTCTTTTCTTTTTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTGTTGCCCCAGCT AAGTACAGTGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCT CCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACCACGCCCGGCTAATT TTTGTATTTATAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTG ACCTCATGACCCACCCACCTCAGCCTCACAAAGTGCTGGGATTACAGGCATGAGCCACCG TGCCCGGCTTAAGACCCCATTTCTTAAAAAATAAAAATAAAAATTGCCAGCATGGTGGCA TGTGCCTGTAGTCCCAGCTACTCAGGAGGCCAAGGTGGGAGAATTGCTTGAGCTCAGTAA GATTTACAGAAATGCTGTGAGGATAGTGCAGAGTTCTTATAGACCTCACACCCAGTTTCC CCGTTGCTGACGTCTTGCATTAGCGTGACATGCTCCTCATAATGAATGGACCAATATGGA TGAGCTGGGATTAACTGAGGTCCTTGCTGTATGCAGATGTCTTTGCCTCTCCCCTACAGC TCCTTTTCTGCCCCGCCATGGATCCCACATGGTGTCAGTCACCGTGTCTCCCTGGACTCC TCTTGGTTTCGGCAGCCTCCTGGGTCTCCTTGTATGGGGTGTCCTCACTGTCTGGATGAA CACTGGCCGGATGTTCTGTAGCATGCCCCTTGGGTGGGATCCCTTTCACCCTCATGTTTC CTTATGAGTCTTCAGGGGGATGGGTTTTGGGAGGAATACCATGGAGTTGACGTGACCTTC CCATGAGATGCTGTGAAGCATCCACACCATTCACGATGCTTGTGATGACACCTTGGCCGC CTGGCCAGGGTTGGTGTAGGAGGCATGCTGCAGAGGCGCTCTCCCCCTCTCCCTCCCACA CCCTCTGAAGCCAGGTTACCAGGTGCAGCCCACAGGTAGGGATGGGGGTCATGCTCCCCT CCAGTACAGAGTGTCCACATGGCTGCTTTGGATTGACTCTGCACAGAGGAGCTGTCTCCT GTCCCCCATTTGGTTATACATTCAGTCACGTACTTTGGCTTCTAATCTATGTCAGTCTGT AATCTGTAACACAAGACTACTTGATTTCTTTCACTGCTCAGAGGGATCCAGTCTCAGGCA CTGGGTGCTCTACGTGCAGGTGCTGCTTGCACAGACTTCCTCTCTGACACTACAGTTTGC GCCAGGCTCTTCTGTACATTCCCAGCCCCAGCCCTCGGGTCTGCCAGTTCCCCACCAGGG GTTCCTGATTCCTGTGATTGGGAGTGGAGGTAGGAACCAAGGCCTGGGCCCCAGGTAGAT TCTTGCTCCTAGGGTGTTTTTGCATTGAGGCCTTTGCAGGCGCCAGAGCAAAGGTGTGTG TCTGAACCCAGGTGCATCCACATAGCTGTATTTTCTATGAAACCGCCCACGTCTCTGTGA GACACCCTGTGGTCTCCAGCTGTGATCGTCATCACATGGAATAGTCACTAGCAGCATGGA AGGCGGTGACACAGCGACAGCCTCAGGGAAGGGCTGAACCTGTGTGTGTGCGCCTGTGCA TGTGTGTGTGGCGAGGCCAGGTAGCAAAGGCTCCTGGTGGGAGTGGGCTCCAGCCAGTGT GGGAGCCGTGGGCAGAGCACACGAGGGGATATCTGGAGCCAGGCGTGGAATGGGGGCAGG GGACCTGGCACTAAGGCAGGTGAGGCCGCGGCATTCGCTCTGGTTAGGAGTCACAGGCAG GGCAGGAGTCCTGCTGGGTGGGCGTCCTAATGCTCCCCAGGCTTGCAGGCAAGGAGTGAA GTGCTTGAGGCCCTGCAGGCGGGGCCAGGCTCAGGATTGGCTGGGATAGGGAAGCTGCTC TGCAGAGCAGAGTGGCATTTGGGTGTGGCCCTCTGGCAGTGGCTGTGCTTGCTGGGCATC TGAGTGCCCATGTTGGGGGTGGCAGCAGGCCCAAGAGAGAATTACAGGCTGGAGGTGTGG ATCTGGGAGTCCCCATAGGCGTGGCCCTGAGACCAGGACCCAGGTTCTTCCAGACCATTC CCAGGACCACTATGTGGGTGCAAGTGACACAGGCCCCCAGAGCTAAGTGCCAGCCCTCAG ACGCCAGGGCACATCAGCCCAGGGCCGAGCCACAGTGGTCTCCAGAGCTGAGCCAATGGC GCCGTTTCCTCAGCTGAATCAAGGAAGCCACTCCGCAGTCAGCCACAACGGGAATGCTCA CACCATGGGCACTGGCAGGCGCCATTACTGCAGGCTGCCCCCAGAGAGCCATTTGTTCAA TATTGCCCCCACACAGCTGGGCAGGCTGGCCCTGGCACTGAAGGCCTCCTGCCCCATCTC TCCCTTGAGCCTGCTCTGTCTCAGGTTCCTGTCGGGCTGGAATCAGTGGGCCTTAGCCTG CTGTGATGGGTCAGGTGGGGAGGGAGGTGGGCCCTGCCTACTGGAGCCAGGGAGATAGGG GAGGTGGCCTCAGGGCTGGAGTGTGCCCGCCTGTGCATGTGTGTGCCTGATCACACGTGT GTGTGTGTGCACGGGTCTGTGTGCATGTGTGTGCATATATGTGTATGTGGTTGTGCATAC GTATGTGCATGTGTGTGCATATGCACAAGTGTGTATGTGCCACTGTTTTCATGCATGTGC ATCTGCATGTGAGTGCAAAGAAGCATGCCTGTGGATGTACACATACATCTGTTTGCATTA ACCCTGTTTGCATGTGTGTCTGAGCATGCACGTGTACATGTGTATGCATGTGTGTGCATG GGTATCTGCATATGCATGTGCGTGTTCATGCATGTGCACGTGTGTGCATGTGTACACATG TGAATCTGTGGGTATGTATCTGAGTGTGTGTGCACATGTGAATGTGTGTGGCTCTGAGGG GTACTGCACAGATGTGAGGAAGCAGGGCCACTTCCCCAGGAACCCTGACTGCCCCCTCTT CCTGCCCCGGGTGGGGAGGCCTCAGCTGCATAAAGAGGCCGGGAGCCTCACCAGCGACTG CTGCTGGTCCCACACCTGCCGCTGCTGCCTCCCAGGCCAGGTACCGGGAGGGGGCCAGAG GCGGAGGGAGCTAAGGGGTCTCCTGCCTCAGCGACCCAGGAGCAGGTACTGGCCCTGGGG CAACCGCCAGCAGAGGGTGGGCAGGGGAGCTGCAGGAGCTCTCCTTCTTTGGAGCACAGG CCCTGCTGCACAGCCCTTTCCTGGGCACTTGCCCACCTTGGGCTTGGCTGGTCTGCGGCA TAGCTGTCTCTGAGGGTCGCAGGTGCTGAGTGTGGCCTCACATCACTGGGTCTATAACCT CGCTGGACACCGTCCCTCCTGGACGGACGACTGGCTTCATCCTGACCCCAGCTAGAGATG GTCTGGGTTGAGACCATGGAGGACCAGGAACCTAGACTGGGCGGGCGGAGCCCTGGGACC CTGGGCACCTGAGAAGGGCAGCGGGACCAGCCGGGGGCTGGAGGGAGGATGGAGGATTTT GTGGAGGTGGAGGGACCCCGACGCCCCTGTCCAGGGTGTGGAGGGACCCCGACGCCCCTG TCCAGGGTGTGGAGGGAGGCAGAGCAGGGCCTCTGGGGGCCGAGGGGCTATGGGGATTGT GGACTGGTGGCACTTTGGGGTCTGGGAGCTGATGGTGGTGCAGGCACGGGGGGCTGTGAA GGACTGAGGGCTGATGGGGCTGCAGGGGCTTGGGGGCTAGGGAGCTGGAGGGGCCAGGAG GGATTGAGTGGCTAGGCAGGCTGGGGAGACCCTTTGGATGCTGAAACTCTGTGGGACCCT CCCCAACAACCTGGATGCGGCTGGGGCTGGGTTGGTGGCCATGGGTGCAGTGGACACTGA GACCACCAGTCCCCACACACTTGAGTGGTGCTTGCCTCAGTGTCCCCATCTGCCTCATGA AGGCAACTCACCCAGCTGGGGCCCTGCATCTGCACGAGCAGGGGCCGGATCAGGTGGGGG CTTCCACTTCCGTTTAAGGCGGTAAGCTCCACGTCATTGACTGTGTAAGCAGAGAGGGGC CAGCTGCGAGGCAAGCCTGGAGCCCCGGCTCTGAGCGCCGCGGGCTCCTAAGTGCAGGCC CCTGGCTGACCCCTACCCCGCCCCACAGGACCCGCCCGCCCGCCCCTATGACCAACATGA GCTGGAGCTTCCTGACGCGGCTGCTGGAGGAGATCCACAACCACTCCACCTTCGTGGGCA AGGTGTGGCTCACGGTGCTGGTGGTCTTCCGCATCGTGCTGACGGCTGTGGGCGGCGAGG CCATCTACTCGGACGAGCAGGCCAAGTTCACTTGCAACACGCGGCAGCCAGGCTGCGACA ACGTCTGCTATGACGCCTTCGCGCCCCTGTCGCACGTGCGCTTCTGGGTCTTCCAGATTG TGGTCATCTCCACGCCCTCGGTCATGTACCTGGGCTACGCCGTGCACCGCCTGGCCCGTG CGTCTGAGCAGGAGCGGCGCCGCGCCCTCCGCCGCCGCCCGGGGCCACGCCGCGCGCCCC GAGCGCACCTGCCGCCCCCGCACGCCGGCTGGCCTGAGCCCGCCGACCTGGGCGAGGAGG AGCCCATGCTGGGCCTGGGCGAGGAGGAGGAGGAGGAGGAGACGGGGGCAGCCGAGGGCG CCGGCGAGGAAGCGGAGGAGGCAGGCGCGGAGGAGGCGTGCACTAAGGCGGTCGGCGCTG ACGGCAAGGCGGCAGGGACCCCGGGCCCGACCGGGCAACACGATGGGCGGAGGCGCATCC AGCGGGAGGGCCTGATGCGCGTGTACGTGGCCCAGCTGGTGGCCAGGGCAGCTTTCGAGG TGGCCTTCCTGGTGGGCCAGTACCTGCTGTACGGCTTCGAGGTGCGACCGTTCTTTCCCT GCAGCCGCCAGCCCTGCCCGCACGTGGTGGACTGCTTCGTGTCGCGCCCTACTGAAAAGA CGGTCTTCCTGCTGGTTATGTACGTGGTCAGCTGCCTGTGCCTGCTGCTCAACCTCTGTG AGATGGCCCACCTGGGCTTGGGCAGCGCGCAGGACGCGGTGCGCGGCCGCCGCGGCCCCC CGGCCTCCGCCCCCGCCCCCGCGCCGCGGCCCCCGCCCTGCGCCTTCCCTGCGGCGGCCG CTGGCTTGGCCTGCCCGCCCGACTACAGCCTGGTGGTGCGGGCGGCCGAGCGCGCTCGGG CGCATGACCAGAACCTGGCAAACCTGGCCCTGCAGGCGCTGCGCGACGGGGCAGCGGCTG GGGACCGCGACCGGGACAGTTCGCCGTGCGTCGGCCTCCCTGCGGCCTCCCGGGGGCCCC CCAGAGCAGGCGCCCCCGCGTCCCGGACGGGCAGTGCTACCTCTGCGGGCACTGTCGGGG AGCAGGGCCGGCCCGGCACCCACGAGCGGCCAGGAGCCAAGCCCAGGGCTGGCTCCGAGA AGGGCAGTGCCAGCAGCAGGGACGGGAAGACCACCGTGTGGATCTGAGGGCGCTGGCTTG CGAGCTGGGCCAGGGAGGAGGAGGGTTGGGGGGCTCCGGTGGAAACCTGCGACCCCTTCT CCTCAGCCTTCTCCTTAGCCGGTGGCCTCAGGCAGACTCTGCCCAGAGGGGCAGCCAGGC TGCTCAGGGAAGGGGCTGAAAGCGGCAGAGGAGTGCCCTGGCTTGGTCACCACTGGGGCC AAGGTGGGGTGGAGAGAGGCCTAGGAGCCAGAAAGGGCCCTCTGCTGTGGTCTGAACCCC AGGGGGAGTGGGGCATTGACTCCACCCCTGTCCTGAGCTGGAATAGGTCCTCTGGGATGC CAGCTCTCCCCTTTGTGCTTCCCTGCAGCAACCCATGGAGGGCCCAGGGTGCCTGGTATG GGCATCAGTTGGTGGGGGTGCGGGGGTGCGTGTCCCCATTCCCTGCAACAGCAAATGGGG CTCCTTCTTCAGCCCTCCCCTTCCCAGCCCCAAACTGAGACAGACTGGGAGCTGGGAGCC TGGGGTGGACAGGACCATACCCTCTTTGAGCTTCTGCGATGCCGGCCTTCCGTTCCTCTG GGAGGCTTGAAGTTCTGCAAAGATGTTGATATGCCTTGCAGCTTGGACCCAATGGGTGGT GGTCAGGGCCTGGGGGCTTGGCCATGCTGGGGGAATGGGGCTCTGGGTTCCTGCCTGTGG CCTGTCTGTCCTCCTCCCTAATTCAGACCCAGCCTCAAGAGGAAAGGGAGTAAAATAAAA CTAACTTGTTTATAA OMIM ID 608803