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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for C10orf2 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 56652 Official gene symbol C10orf2 Full name chromosome 10 open reading frame 2 Aliases ,ATXN8,FLJ21832,IOSCA,PEO,PEO1,PEOA3,SANDO,SCA8,TWINL, Gene summary This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Location Chromosome: 10   Locus: 10q23.3-q24.3 Gene position 102747293 - 102754158  Map Viewer Gene orientation plus Gene size 6866 bp Gene sequence >C10orf2:53551757..53558622:Length=6866 GAGTTTTGCTTCCGAGGTCAAGGCGAGTAGCATGTGCGGGAGACTCACGTTGCCGGCGAA GTGGGAGAGAGAAAAGTGGTAACCTGGGGCTGGGGGCCGGCGCGGCGGAGCTCGGAGTAG TAGAGCGGAGTGAAGACACGGGGGAGGATAGAGACTGGCATTCCTTTGGGCCGGGGGATT GGCGGGAGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGC GGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACT ATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGC AAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGA AACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGG GTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTC ATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAG AGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCC CACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTA CCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCT CCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTA ACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCAC AGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGT GTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACC AGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGG GCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGG AGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTG GCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTG CGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGA TTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAA ACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGT CGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCC ACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTC CCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGG GAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCA GGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATT CTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAG GAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTT CCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGT AACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAG TGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGC CCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCC CACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTT GTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGC CCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGA TCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCA AAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCAC TCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTG GAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGG CAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGT GATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGC CTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACA GAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAG AGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTC CTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTAT GACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCC ACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACA CACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGAT GTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGG ATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGG TAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTC TGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGG GGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCG GAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAG TGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGC CCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTG GGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATG CTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGC AATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGA TGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACAACAAAGGTTGGG TTGAGGTTTGGTAGACAATGGGTATTAGACAATCAGATAAATGTGAGGGCCTTCTGGGCA TCAGGACCAGCCCAATCCTGGAGCTTCTAGTGTTACACTGAATGCCTATTACATACGAGG CCTGGGCTGGGCCTAGGGAATTCAGAGCAAGGAGCACAAATCATGTGCCATGATGGAACA AACATGGAGCTGGGAAAGAGAGTAATGCAGAAGTGGAAAAATGGCAGGGTACAGTGGATC ACACCTGTAATCTCAACACTTTGGGAGGCTGAGGCAGGAGGATTGCTGGGGCCCAGGAGT TTGGCAATCTGAGCAATGTAGTGAGACCCTGTCTCTACAAAAATATTTGAAAATTGGCCA GGCGTGGTGGCTCACGCTTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACG AGGTCAGGAGATCGAGACTATCTTGCTAACATGGTGAAACCCTGTCTCTACTAAAAATAC AAAAAAAAAAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCGGAGATCGCGC CACTGCACTCCATCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAATATATATATATAA TATATATATATTTAAAAATTAGCTGGGCATGGTAGCATGCACCTTTGGTCCCAGCTACTC AGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGGGAGGTTGAGACTGCAGTGAGCCGTGC TCACACCACTGCACTCCACTCCAACCTGGGCAGCAGAGTGAGACCCTATCTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCG CGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCATGTGCCACCACACCCGCCTAATTTTTTGTATTTTTT TAGTAGATACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGAT CCGTCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCTG AGACCCTGTCTTTAAAAAAAAAAAAAAAAAAAAAAAAAGAATGGTCTCCTTCATGAGATG TGACATTTAGACTGAGACCTAAAAGAGAAGAAGCTGAGGTTGAGTGGGGTGGCCCGCTGT GGAGAAGGAGAGGGAACAGCACAGGCAGCGTCTGAAACAGTAGCAAGCTTGTCAGGGAAC TGAAAGATTTGAGTGGCCCCAGCATCGTGGTCAGTAGTTCAAAGAGCTTTGGTCATGGGG GGAAGTACTTTTCCCTCTCCCATTCTTTCTCTTTTTTTTTTTCTTTTTTGAGACGGAGTC TCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCGCC TCCCGGATTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGAAGCTGGGACTATAGGTGCAT GCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGC CAGGATGGTCTTGATTTCCTGACATCGTGATCCACTCGACTCGGCCTCCCAAAGTTCTGG GATTACAGGCGTGAGCCATTGTACCCAGCCCCTCTCCCCATTCTTATCACTCCTCCCTGC CCTGTCAGCCCCCCTTTCTGCTTTGCTCATGTCCTCTTACTCCTGCTTTCCTCCTTCTGC CCCCTGTTCCCCAGGCAAGCCAGGAAGCAGACAATGTTCTGATCCTGCAGGACAGGAAGC TGGTAACCGGGCCAGGGAAACGGTATCTGCAGGTGTCCAAGAACCGCTTTGATGGAGATG TAGGTGTCTTCCCGCTTGAGTTCAACAAGAACTCCCTCACCTTCTCCATTCCACCAAAGA ACAAGGCCCGGCTCAAGAAGATCAAGGATGACACTGGACCAGTGGCCAAAAAGCCCTCTT CTGGCAAAAAGGGGGCTACGACACAGAACTCTGAGATTTGCTCAGGCCAGGCCCCCACTC CCGACCAGCCAGACACCTCCAAGCGTTCAAAGTGAAGGCCGTGCAGAGCTGGTCACTGAA ATGAGCCTGATAGGATAGGCTGGAGCATAAAACTCTGCAAGGGCTCCTCTATCCTGTGGT CCTGAGCTGTGTGCCCTTCTCAGTCTGAGGGGCCTAACCTAGAGCAGGTTTCCATAGTGA GAAAATTCAATGTAGCAGACTACTGAGAAACTACTGTGTTGCTCAGGCTTTGTTTGAGGT CCTGTATATACAGCACTGAAAAGAGAGATAAAGTCCCTGCCTGCATGCATTCTGGCGGAA GAGACAAGCAAGCAATGAACAAATTAGCAGAAAACCTAGTTTTAGTGAAAAATGCTGTAA AGAAAATAGAAATGCGATAGAGTGCTGGCAGGCTAGTGTAGATAAGTGGTCTGAAAAGGT GTCTCTGAGCCGAGGGCATGTGAGCTGGGGCCTAAACAACTAGAAGGAGAGAGCCACGTG AACATCCGGCGAAGGGGACCCAGGCAGAGAGAAAAGGAAATCCAAGCCCTGAGGTAGGAA TGAGCAGGTCAGATTCAAGGCAGTGAGGTCAGGCCGCATGAACCTGGAGGGGAATCGGGG ACTTCATGCGAAACTCCAGCCTAGGCTTTCAAAGTCAAAGGGTGATACAGTGGGTACCAA GCTCCTCTGCTCCCCACTTTGTAGAGCCTAGCATGAGGTGGCATGTACTAGAATTGGATC CTAGGTGCTTAGCCCTGCAATATCAGGGCCTCACTGGTGGGAGCTGCCTCGGGCTGGGTT GCTTGGTCATAGAGCCATAGAAGGAAGCTGTCAGCCCGGAGTGCCTGCCACCTAGACACT GATGCCATTGTGTGCTGCCTCAAGACTGCTGGAGTCAGGACATTTTATAGAGCCTTTTCC AGTTTTACTAAAAAATTTTTCCATTG OMIM ID 606075