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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

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

Entrez gene ID 51119 Official gene symbol SBDS Full name Shwachman-Bodian-Diamond syndrome Aliases ,CGI-97,FLJ10917,SDS,SWDS, Gene summary This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. The encoded protein may function in RNA metabolism. Mutations within this gene are associated with Shwachman-Bodian-Diamond syndrome. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq] Location Chromosome: 7   Locus: 7q11.21 Gene position 66460588 - 66452690  Map Viewer Gene orientation minus Gene size 7899 bp Gene sequence >SBDS:complement(4485533..4493431):Length=7899 GTAAGTAAGCCTGCCAGACACACTGTGACGGCTGCCTGAAGCTAGTGAGTCGCGGCGCCG CGCACTGGTGGTTGGGTCAGTGCCGCGCGCCGATCGGTCGTTACCGCGAGGCGCTGGTGG CCTTCAGGCTGGACGGCGCGGGTCAGCCCTGGTTCGCCGGCTTCTGGGTCTTTGAACAGC CGCGATGTCGATCTTCACCCCCACCAACCAGATCCGCCTAACCAATGTGGCCGTGGTACG GATGAAGCGTGCCGGGAAGCGCTTCGAAATCGCCTGCTACAAAAACAAGGTCGTCGGCTG GCGGAGCGGCGTGTGAGTAGCCCCCTCCCTCGGGCCTGGGCCTGGGCCTGAGCCGTCACC TCCGAGGCGGCCTGTCTCTGCCCAAGTCGAGTGAATGGGCCAGGCTGGGGTGTTGGCCGG GGAGGAAATGGAACATTCCTGCTGTGAGCATGAGACGTCGCTGTCCGAGCTTGGCGCCTA AGCCAAGGGTTTCTTCTTTATTTGGTTGGTTCGGATTGGGTTGTTGGTTTGGGGTTTTGT TTTGTTGGTGTCATAAAAGCTGCAGCCAAGAAATCTCGTAATTGTGGTCCTTTTCCTAGA ATAATGATGGCTGAGAACCTAGTCTTACGAATACTGTCATAGTTGTGGGTACATCTGGTG TCATAGATCTCAGTAGCCCTAGCAGTTTAAAGTGCGTAGTGTCTTCACTGCTGCCATCTA GGGACTGGCATTCCGTGGCAGCAGCTGTCTGCACCCCACCCCACCCTTGTGTTTCTTACG TCCTCCCATGACATTTTTCTCCAGTGAGCAAATGGTAAGGCAAATACGGTTCTGAGTTTT GAAAATGTTCCCTCAGGCCGATGCGGGCAGTTCACTTGAGGCCAGGAGTTCGAGGCCAGC CTGGCCAACATGAAACCCCATCTCTACTAAAAATACAAAGTTAGCCGGGTGTGGTGGCGC ATGCCTGTAATCCCAGTTACTCAGGAGGCTGAGGCGGGAGAATCACTTGAACCCGGGAGG CTGAGGTTACAGTGACCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAAAAACAGTGAA ATTCCATCTAGGGGCGGGGGTTGGGGGGTAAGAAAAAGAAAACTGCCCTCTACACTAAAG GTCATCAGGGGGATTTGTTGTGTCTTGCCGTTCATGTTGTTGCCATCTCGTATTTAAATG TAAATGCATGTCCAAGTTTCAAGTATATTCACATAGGACTTTCTCTCCTGCCCTCACAAG GGAAAAAGACCTCGATGAAGTTCTGCAGACCCACTCAGTGTTTGTAAATGTTTCTAAAGG TCAGGTTGCCAAAAAGGAAGATCTCATCAGTGCGTTTGGAACAGATGACCAAACTGAAAT CTGTAAGCAGGTGGGTAACAGCTGCAGCATAGCTAACCCTAATAACCATTTATAACGTAT TTGTAGATATATTAAACATTAAAGGCTGTTTTTCTGGAGGAAAGACTAACCAAGCAATAA TGTGAACTGCACAGTGTCACTTCTAATAATAAAGAACTTGGTGGTTTTGTTTGTTTTTTG TGGTTTTTTTTTTTTTTTTTTTGCCAAAACCTCCTGAAATCAGATTTTCTACTAAATTAC CTCATTTTTCTATAAATTGCCCCATTTATAGAATGTGGTATACCTGAAAACTGAATTTGT TTTCAAGTATTTCATCTTTCAGATCCTTTTTTTTTTGGGTGGGGGGACAGAGTCTTGCTC TGTTGCCCAGGCTGGAGTGCAGTGCACTTCACTGCACTCAGCTCACTGCAACCTCTGCCT CCTGGATTCAAGCGATTCTCTTGCCTCAGCTTCCAGGGTAGCTGGGATTACAGGTGCCCA CCACCCTGCCTGGCTAATTTTTGGATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCA GGTTGGTCTCAAACTCCTGACCTTGGGTGATATGCCCGCCTTAGCCACCCAAAGTGCTGG GATTACAGATGTGAGCCACTGAGCCCAGCCAAAAGATTCTTGCATCTTTTGGGCAAAGCT CAAACCATTACTTACATATTGATAGCTGGAGAGGATGAAATTTAATTTTCTCTCCATCCA GTTACTCATTTTTTATGGTTAGTTAATAAATAGTGTGTGATAGAGAAAGATAGTGATTTC TTAAATGTGTTGGCATTTTTTTAGATTTTGACTAAAGGAGAAGTTCAAGTATCAGATAAA GAAAGACACACACAACTGGAGCAGATGTTTAGGGACATTGCAACTATTGTGGCAGACAAA TGTGTGAATCCTGAAACAAAGAGACCATACACCGTGATCCTTATTGAGAGAGCCATGAAG GACATCCACTATTCGGTGAAAACCAACAAGAGTACAAAACAGCAGGTGAGTGGTTTCTCA TGTCATCAAAATATAGCCATGGAAATCAGTTTTCTCTGAAGAAATCATTAAAATAATGGG TCTGGGGCCAGGCACAATGGTTCATGCCTGTAATCCTAGCACTTTGGGAGCCAAGATGGG AGGATTGCTTGAGGCCTGGAAACAGCCTGGGAAACATAGGGACGCCCCATCTCTAAATTT TTTTTTTTTTTTTTTGAGACAGAGTCTTACTCTATTGCCCAGGCTGGAGTGCAGTAGTAT GATCTCGGCTCACTACAATCTCCACCTCCCGCGTTCAAGCAAGTCTCCTGCCTCAGCCTC CTGAGTAGCTGGGATTATAGGCACGTGCCACCACACTCAGCTAATTTTGTATTTTTAGTA GAGTTGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCCTAGGTGATCCG TCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCTACCGTACCCTACCTCTA AATTTTTTAATATAAAAAATTAAATTTAAAAAAATGGGTCTGCATGGAAGCAAGTGGGTA GAGGTTTGGGGAAGAGATGGAGGAAAAGGACGGGGTTGTAAAGATAGGTAATTTTTTTTT TTCAAGTAAACACAAATATGTATATAGGACTTTCTTCTTCCTATCCAAATCAAACTTTTA AAGACAAAACTTGAGTTTTTAAAGGGTCATTTTAACACTTCTTTTTGAATTTTTTAATTT ATATATAATTCACATACCATAAATTTCACACTCATAAAGTATGTACACTTTAAGTGGTAT ATTAACAAAGTTTTGGAACCTTCCCTGCTACCTGGTTCGAGAACATTTTCATCACCACAA AAAGAAAGTCAGTATCCATTAGTAGCCATCCCCCATTTTCCCCCCACAGGCCCCTCCCAA CCACTAATCTCCTCTCGTTATGGACTTCTCAATTCTGGACATTTCATATAAATGGAATCA TACAATATGTGGCCTTTTCATGGTTCATACATGTTGTAACCTGCATCAGCATGTCATTTC TTTTTTATGCCGGAATAATAGCCCACTGTACGGAAAGAAACACATTTTGTTCATTCATCT ATCAGTTGATAGACATTGGGTTGCTTTCACTTTTGAGCTATGATGAGCAATGCTGCTATA AAATTTCTTGTATGTTTCTGTGTAGACATATGTTTTCATTTCTGTATACCTGGTGACTAC CAAACCTATTTCTAAAACAGCTGCACCATTTTACTTTACCACCATCAGTGTTTAAGAGTT CAGTTTCTCCACATCCTCAGTAATACTTGTCATTGTCTGCCTTTTTGATGATGGCCATCC TGGTGGTATCTTGTCGTGGTTTTGATTTGCATTTCCTTAATGATGATTTGAGCATATTTC CATGTGCTTATTGGTGCCTCGTCTGTCTTCTTTTGAGAAATCTCTGTTCAGGTTCTTTGC CCACCCCCCCCGCCCTCTTTTTGCAAACTCTGCCTCCCGGATTCAAGCAATTCTCCTGCC TCAGCCTCTTGAGTAGCTGGGATTACAGGCGTGCACTACCACACCCGGCTAATTTTTCTT TTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCC TGACCTTGTGATGCACCCGCCTCGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCAC CACACCTGGCCTTCACTTTCTTCATAGTTTTTTGAAACACAAAAGCTTTTCTTCTTGATA AGTCCAATTTTTCTATTTTTTTTTTAACGGTCACTTATGTTCTTAATGTTATACCTAAGA AACCATTACCTAATCCAACTACATGGAAACTACTTTGTTTTTGAAAACCTTATGAAATAA TATAGTAGAAGAAATTGCATTCTCGATTTTGTCTTGGTAGGCTTTGGAAGTGATAAAGCA GTTAAAAGAGAAAATGAAGATAGAACGTGCTCACATGAGGCTTCGGTTCATCCTTCCAGT CAATGAAGGCAAGAAGCTGAAAGAAAAGCTCAAGCCACTGATCAAGGTCATAGAAAGTGA AGATTATGGCCAACAGTTAGAAATCGTAAGAGTCAAATATTTTCTTTGCTTCATGTTACC TAAATATTGTATTCTCTAGTAATAAATTTGTAGCAAACATTTAGATGTTGTAAACGTCAG ATATTTTCTTTTCTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGT GCAGTGGTGCTATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTACACGCCATTCTCCTG CCTCAGCCTCCTGTGTAGCTGGGACTACAGGCACCCGCCACCAAGCCTGGCTAATTTTTC GTATTTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGACGGTCTTGATCTCCTGAC CTCATGATCCACCTGCCTCAGCCTCCCAAAGTGCAGGGATTACAGGCGTGAGCCACCGCG CCCAGCCAGATATTTTCTTAAGACTAAAGGTTGGTCAGCCTTGTTTACCACAAATCCTTT TATTTTTTTCCCAGCATTTATTTTTGTCATATATTATGCGTAGTGTTTTAGATACATGAT TTTAGCAAATTTAGCAACTATTTAAAATAAGCCACTTAAAAATTGCTATTTTAGTGGAAG ATTGATAATTCCAATTACCTTAAAAATTTTGCAAAAATTAGTACAAAGCACACTATGGAA ATTTACATTGAGTTTTCAGAGATAGCTCAATTGCATGCTTTACTCCAGTGCTGATCATAA TCCTAAAAGACAATCCCAAATGCCACAATCCCAATGTTGAAATCATAAAAAAATCAAAAT CTCTAAAGTCCAAAGCCTGAACTTCTAATATCTTGAAAATCACAGTTCCAAAAGATTGAA TCCTGGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGG TGGATCACCTGAGGTCGGGAGTTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTC TACTAAAAATACAAAATAGTCTGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGAGGTTGCGGTGAGCCAAGATTG CACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAA AGATTGAATTCTGAATGATGAAATTCTGAAAGCTGAATTCTGGCAAAAGGATTAGCACTC TTTGAGTTGTATGCAGGATAGTCGCGTCTGGTTAATTGCATCATGTGAGGAAAAGCTAGG ACCTTGTTATTGTCTTCATTTGAAAATTAAAAATGGTTTAAAGAGATGAGTCTGGGTGCC AAGTTGATAAGGGGTGGAATTGTGGATGTAATTTTAGGTGTCAACTTGACTGGAAAGGAA TCCCTAGAAGCCTGATAAAGCATTGTTTGGGGTATGTCTGTGAGGGTGTTTCCAGAGGAT ATTAGTGTGTGAACCTGGTGACACTAAACACAGAACATTTTAAAGAAGCAGCGAAACCAT TATGTCCTTATGACCTCACCCCACAGCTTCAAACACAGTGTAAATTGAGCTGTCTACAAA TTCATGTTTTCAAGGCTTTGCAGCTTATTTATTTATTTATTTATTTATTTATTTTTGAGA CAGGGTTTCACTCTTATTGCCCAAGCTAGAGTGCAATGGCGTGATCTCAGCTCACTGCAA CCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTAC AGGCATGTGCCACCTCGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTCTCTCCAT GTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCTTGAGCCACCGCGCCCTGTCTGCAGCTTCTTTTTAAAAGTAA ATGAGCTGTAGAGAAGTGTTGAGTATGTGAGTATCCACTGTAGATGTGAACTAACTCATC TGACACTACTTGAAGTTCTAAAATCTTTGCAAAACTGTACACATGGGCCAGGCACAGTGG CTCGTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGAGCAGATAACATGGTGAAACC CTATCTCTACTAAAAATACAAAAAATAAGCCAGGTGTGGTGGTGGGTTCCTGTAATCCCA GTTTCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGCTGCAGTGA GCCAAGATCACACCACTGCACTCTATCTCAAAAAAAAATAAATTAACATACACATGGTGT CTACATAAGTCTTCACATTGCTTTTTCTCCTTCATACGTGGAGGTGACTTTACTGAGCTA TAAAATGTAATGCTAAATTTTAGTATGAGAAGAATCAGAGTTTTCTAGTTTGTCCCTTCC ATTTACAGCTGAAGAATCAGAATAAGTGTTTAAACATAGGGATTAATGCCTTGTCACAGG GGGCTACATGGACACTTGAGGGCAGAGGCTAAACTGGAACCCAGTGTGCCGCCCTACCCA TTGTCTTATCTATTGCACCATAGAACTGTGGTATTATTAGAGATCTGGACAGCATTGTGC TTGCCTCAAAGGAAGTTAAAGCTGAGTTTATTCTGTGTCTTGCTCATCCTCATGTGGTAA TCTGCTACGTTAAATGTTTCAGGTATGTCTGATTGACCCGGGCTGCTTCCGAGAAATTGA TGAGCTAATAAAAAAGGAAACTAAAGGCAAAGGTTCTTTGGAAGTACTCAATCTGAAAGA TGTAGAAGAAGGAGATGAGAAATTTGAATGACACCCATCAATCTCTTCACCTCTAAAACA CTAAAGTGTTTCCGTTTCCGACGGCACTGTTTCATGTCTGTGGTCTGCCAAATACTTGCT TAAACTATTTGACATTTTCTATCTTTGTGTTAACAGTGGACACAGCAAGGCTTTCCTACA TAAGTATAATAATGTGGGAATGATTTGGTTTTAATTATAAACTGGGGTCTAAATCCTAAA GCAAAATTGAAACTCCAAGATGCAAAGTCCAGAGTGGCATTTTGCTACTCTGTCTCATGC CTTGATAGCTTTCCAAAATGAAAGTTACTTGAGGCAGCTCTTGTGGGTGAAAAGTTATTT GTACAGTAGAGTAAGATTATTAGGGGTATGTCTATACAACAAAAGGGGGGGTCTTTCCTA AAAAAGAAAACATATGATGCTTCATTTCTACTTAATGGAACTTGTGTTCTGAGGGTCATT ATGGTATCGTAATGTAAAGCTTGGATGATGTTCCTGATTATCTGAGAAACAGATATAGAA AAATTGTGCCGGACTTACCTTTCATTGAACATGCTGCCATAACTTAGATTATTCTTGGTT AAAAAATAAAAGTCACTTATTTCTAATTCTTAAAGTTTATAATATATATTAATATAGCTA AAATTGTATGTAATCAATAAAACCACTCTTATGTTTATT OMIM ID 607444