Home

Search

Browse

Statistics

User guide

FAQs

Links

Questions

Contribute

Download

Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for SEPT5 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 5413 Official gene symbol SEPT5 Full name septin 5 Aliases ,CDCREL,CDCREL-1,CDCREL1,H5,PNUTL1, Gene summary This gene is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. The presence of a non-consensus polyA signal (AACAAT) in this gene also results in read-through transcription into the downstream neighboring gene (GP1BB; platelet glycoprotein Ib), whereby larger, non-coding transcripts are produced. [provided by RefSeq] Location Chromosome: 22   Locus: 22q11.21 Gene position 19701987 - 19712297  Map Viewer Gene orientation plus Gene size 10311 bp Gene sequence >SEPT5:2854137..2864447:Length=10311 GGAGCGGGCGGCGGCGGCGGCGGCGCGGAGGGGCCGCTCACCCCGCAGCCCGGCCTCGGC CTCCGCCGCTTGTCGTCGCGCCCCGCCCGCGAGCCCGCCCCGCACGTCCCCCGCCGGCGG CCACCATGAGCACAGGCCTGCGGTACAAGAGCAAGCTGGCGACCCCAGGTGAGCCCAGCG CCTGCCCGCGTGCCCGCGCGCGCCTTTGTCCCCGCCGCCCGCGCGCCTCTCACCGTGTCT CTCCGTCTCTCCCCCGCCCGCCGGCCCGGACCCGCTCGGAACCGGACCCGGACTCGACCC CGACCCCGACCCCGCAGAGGACAAGCAGGTACGTGCGCAGCGCCGCTCCCCCGCCGGGAG ACCCGGCCGGCTGTCACCCATTGTGACACTAGCGCCTTGGGCGCCCAGGCGCGACCCCGC CCCCGCCGGCCCTCACCCAGCCCTGTCGCGATCACCGATTGTCAGCCGGGCAGTGCCGCC GCGCCTGGGGCTTCAGAGGAGAGGAGTGGGGGCCCTGGTCCCCGGACCCGCACAGCAGGG ACCCTGCGCCCCTCCCCAGGATGGGGGGATGGGCAGAGTGTCCCCCTCCCACAGGGCCAG TGCCAGCATCTCCTGCTGACCTGGCCTGTAGGCCATGAGCTGGGGGTCCTGGGTGAGGCC ATGGTCGTGGCAGGCCACGCTGGGGGAGGGGAGTCAGGCTCCATCAGCCAGCACAGTCCC TGAACAGCCCTACAGCAGAGGGCCTGTGGTCACCACCCACCTCCCCTGCACCTTCATGCC CCTTTCCCTCCCCATACACAAATTTGAGTGTTCAGGTCTGCAACAGGGACTCTTCCCCAG ATTGGGAACCCCCAGGGTCTGGTCTGAGTCATTCTGGGTGCCCAGATGGGTCCTGGGACC CTGTGGGTACAAATAGGCTTGTGGCTTCTCAAAAGGGTTGGCCCCACCCTCCAGGAAAGC AAGACTGGACAGGAGGCTGGTCTAGGCACCTGGGTGAAACCCAGCCGAGCTCAGGGTTAA ACAATGCTGTGAGGCCCCTGGGGTGGGGCGGGGGCTGACAACCAGGTGGGCTGGGGGGGC TGGGGAAAGCCTGCTGGTGTCCTCTCTGGCTTGAGCTCAGCCATCTTTGGAGGAAAAAAG AAGAGCCCAATTCTGGCACCAGGGTGGCACTGGCAGCCCCCATCAGGGATGGAGTTTCTC AGGAGCCATGGATGCTGAGTGGAACTCCAGAGTCCTGGCCCAGGGTGCAGCAGGCAGGGC AGGAGGGCGGGCAGGGGGGCCAGGAGCTGGGGGAGTCACTGGCTGACCAGTGCCATTCTC CTGGAAGGGACACACCCCACCCAGAGGTGGATGAGGCTCTCTGGGAGGGGCCCCTTGGGG AGCCAGGCTGGGAGCTGCCTCCCCATCACAGCAGGTCAGACAAAGCCTGAGATGCAGGGA CACATGCGTCAGGCTACTGTTTGAGGGAAATGGAAGGAACTGAGGCTGGGAAAGCCAGGA GGCCAGGCCCCTGAGGCTTCTCCTGTGCCTGCAGGTGTCCCCAGCTTGACCCAAGGGCAC TCTGAGACCCTGGGCTCCAGCCACTGCTGTTGGGTGCAGCCAGGTTCTCTTGCCCATTAC TGCAGGGTGGGGACCCCCTCCTGCTGAGGTGCCCATCGTTTGAGGTCAACCGGGAGTCCA CCTCACCCCATCCCAGGCCTCCCAGGCCTCCAAGCCCAGAGGAAGAAGGCACTGTGTGGC CAAGGAAGGGAGCCCCGGAGCAGGAGCCAGGCCAGGTGTCTGGGTGACCAGTGGGTCTGG GGGAGCTGGAAGCACATGGCAGCTTCCCTGCTACCACCGTTGCTGAGCCTCAGCCTGTCC AAGCATTCTTTTTGCTCTTTGAAAGGGGGCTGTAGAGGCATTGGGGGAGTTCCGTCACTA CGCTCTGTGCCCCCACCTCCTCACAGGCAGCACCGGTGATCTCTTGGCCCTGGCTGCTGC TCCCAGAGCTGACTCGGGTGATTCTAAGAATGGAAGTGCCAGAGAGGCTCAGGCATTGGG AGGAGATGGGCGCAGCTGTGTCATATGGCTCAGGAAGCCCTGGGAGTATCTTTTGTCACT TGGGGACCAGAGAAAGGGGGTGGCAGGTACGGCCCCTTCCTTGAGGCTCCCCCAGGGAAT CCACAGGCCCTGACTGGGCCCCAGTGGGTGGCAGGGCAGGTGGGTTGAACGCTGAGAGTG AGATTCTTGCCCTCCTGACCTGGGCCTCCCCAGAGGCTGTGCCTTACCAATGGGGAAACT GAGGCAGGCAGTCTGAGAGCCACACACTCTGTTAGACACCTCCTAGCCTGAGGCCTAGGC CCAGGGCTGTCTGTCTTCCTGGAGATGCCCTGGGCCTGAGATGCCAGCCTGTCTGGGTGG GTGCTGGGCTTCGAGGTGTGGACCCTCAGTTGGAAACTGGGTGGGACTCAGCCTAGAGGC TTCCTGCAGGTCAGGGCCATGGAAGGCTGGGGCCAGTGAGGAGGCTTTCTGGCAGCAAGG ACTGAGGGATGCACTGGTAGAGCTGGGGGGCCTGGAGCTGCCCCCTTTCCCTGGGATGAA AGGCTCTCCTGTTCCCAGCTGTGGGCCTGCCCCTCCTCCCCAGGTGCCAGTGGTCCAGGC CCCACAACAGGACCAGGGCCTGGACAGGAAGTGGAGGAGGTCTCTCAGCCAGGAGAGCCT AAGGGAGGGCTGGTGGCGGGTGGGGTGGGGTGGGGTTGGGGCCTCCAGCTTCTAATGTTC TAATGTGCAGGGGCTTGGCCTGACCAGTCCTACCCTGGAACCTTTCCAGGCCCCATGTCC TGCTCCGCTGGGCTTGCCTGTTGGGATTCTACTGGGGTCATGGAGGTGGGTGGCCCACAG AGCGGAGCTCGGGAGACCCCCGCAGTCCCTGGAGTAGCCACATGGGAGGGAGGCCCGGCT GGCAGGAGCTCCCAGTCCCTCCAATCCTGTGGGTCAGAGCTGGTGAGGATGCTCAGAGGG CAAGGGAATGTCCACAGAAGCACGTGGGAGATGGGTCCCATCCCACCCCCACCCCTGTCT CTGAGGGCAGGGCCACCTGAGGGCTGCAGGGCAGCGCATGGGTGGCCGGCGTTTATTCAG CAGGCTGGCGGGGGCTTCCAAGTTTTGCAGGGACCTCCAGTACTCCGGCAGCCTGCACCC TTCCTTTCCCTTCCCTTCCCTTCTGTCCACCCTAAGCCTCCTAGGGGACAGGCAGGCTGG ACTTCAGAAAAGGTGGGCTCTGCCCTCCTCCGGTCCCCCGAATGTCTTGGGAAAGAGTCC ACCAAACACACATGCACACACCCGCGCACACGCACATACCCAATGCATGCACACACGTAC ACACACACGCATACACGCATGTATACACGCGCACACACGCAGGCATTACACACACACACA TTACACACACACACCCGCACGGACGCGCACACACAAACGCGCGCACGCACGCACGCACGC ACGGGGGAGGTCAGCCCCAAGCAGGGCTGGGGAGGGGTGCAGGGCGCGGCGTGTCTGTGG GCACTTGGGGCGTCGAGACGCCGCCGGGAGGTTTTCGGGCAAGTCTGCGAGAAGACGGCG GGCCCTGAACTGGGCGGGTACCCGCGCTGTTGCGCGTGGGTCCCGGGAGCGGCCTCCGGC GCCCTCTGGCGGGCGGAAGCCGCGCAGCACCTCTTGGGGGCGGGACGCGCGGTGGCTACC GACTCCCGGCCCGCCCCGGCCCGCGTGCAGGACCCGGTCGTCCCCTCCTGCTGTCCTGGA GCCCGGACTGAGGCCCCGGGGGCGCGGCAGGGCTCCCGGTCCACGCGAGCCATGGCCCGA CCGCGCCTCGGCTCAGCCCTGCCCTCCGCAGCCGCTTTCGGGTGGCTCCGCCCGCGGCCC AATTTCCAGGCGACCGTTTCCCGGCGACGGCGGGCGGGGCCGTCTCTGCCGCCCCCCGCC GCGCGCTCCGCGGGCGCCTGCGACGCCCCGCCTCTGGCTCGGGTGCGGGAGCGGGGCCTG CCCGGACTGCGACGCCGCCACAGCTTGGGGCCAGTTCGCCCAGTCAGGGGGATGGCTCGG TCGGCCTCGGGGGTCGACGATCCCCCGGGTAGGCGACGTGCCCTGTCCAGGCCTCACTTC CCGCGTCCGCAAAACGGGGTGGACAACGCAGCCTAAGGCAGAGCCGCGCCAAGGTCCCTC GCTGTCGCCGGGCTCTGGCGGCCTGACCGGGCCTGGGGTCCGAGCGTGCCCCCGGGCCTG GGGGGGTCGCCGCGATGGACTCGCTGGCAGCGCCCCAGGACCGCCTGGTGGAGCAGCTGC TGTCGCCGCGGACCCAGGCCCAGAGGCGGCTCAAGGTGCGTGTGTGGAGAGGGCGGAACG TGGGTCTGTGACCCCGCGGGCTCCGGGACTCGGCATGGGGTCCCCGTCCCCGCGCGCCAC GGCCCGCCAGCGCCTAGGCTCAGCCCTTCCCTCCGCAGCGGCCTCGCAGGTCCGCGGCCC CACGGTGGGGCGACGTGCCCTGTCCAGGCCTCACCTCACGCGACTCCAAAACGCGGCGGA GAATGCGGCCGTGGGACCCCTCCAGGGGCCCCAAGGGTCTGCGGGGGCTGGGCGCCTGGG CGCGCGGGCGGGGGAGGCTCGGCGCCGCGGTCTATAAATAGGCGCTGCTCCGCCACCGCC GCTGCCGCCGCCCCCGCGGCTGGATCCGGGCCAGGTGGGGCCTCCCGCCCCCTGGCACTC TCCGGAGGGGTGAGTGTCGAGGCCCCCAGCTTCTCCGGCTTATGGAGGGCCTTGAGTGTG TCCCAGGGGTCCCAATCCTGCTGCCCTCTGCCCGAGGAGGGAGGACATCGCCTGTGCCTG CTGCGGCCTGACATCTCCCCACGGAATAAATACAGTGTCGGTCCCTGCAGAGCCCTCCCT GGGATTGGGGCCAGGGGTGCCTTCTCCTGCCACCACCTCGCCTGCCTTCTTATCTCCAGG CTTTTGCCCACGGGCCCTCCCCTTATTTTTGCCAACGAAATGCCCCACCCTGGGAACCGT ACCCTCTGCTGTCTCCTCATACCGCATTTGGTAAGAGACAGGGTATTGGGCTTCTGGAGA AACCTTTGTGTCCCTACCCTGTTCCATCCTGTCCCCAGGACATTGACAAGCAGTACGTGG GCTTCGCCACACTGCCCAACCAGGTGCACCGCAAGTCGGTGAAGAAAGGCTTTGACTTCA CACTCATGGTGGCTGGTGAGTGGGCCAGGCTCCTCGGGGGAGTGGCTGGGGTCACTGGCC AGCCAAGCTCTGTCGTTGGAGCCCCAGACCTAACGCAGCTCCTTCTCTGTACCTGTGTGC AGGTGAGTCAGGCCTGGGGAAGTCCACACTGGTCCACAGCCTCTTCCTGACAGACTTGTA CAAGGACCGGAAGCTGCTCAGTGCTGAGGGTGAGTGGCCCCCAGGAGGCCCTGGCACTGA TCCCCAGTCCCCTTCCATGGGACCTCTCCAAGGACTCCCTTTCAGGTCCAGCTCCCACTG TTCTGTTCTCGCGGTGTGGGTCCCCTGGGGGTAGGGCCAAGGCACCAAGATGGATGAGGA CGAGGGTCCTGGCTGCCAAGGGTGAGGGGCTGAGGGTTGGAGAGGCCCTTCCAGTGGCCC CTTCCCCGTAGAGCGCATCAGCCAGACGGTAGAGATTCTAAAACACACGGTGGACATTGA GGAGAAGGGAGTCAAGCTGAAGCTCACCATCGTGGACACGCCGGGATTCGGGGACGCTGT CAACAACACCGAGTGGTGAGTGAGGCCTGCTGAGAAAGGCCTTGCCTAGGCGGCCACAGC ACTCGAGGCCTGGCCTCACCTCCCTCCTGCCCACAGCTGGAAGCCCATCACCGACTATGT GGACCAGCAGTTTGAGCAGTACTTCCGTGATGAGAGCGGCCTCAACCGAAAGAACATCCA AGACAACCGAGTGCACTGCTGCCTATACTTCATCTCCCCCTTCGGGCATGGGTGTGTGGC TGTCCTGGGGCCAGGCTCGGGAGTGCAGCCCCTACAATATGGCCCCCTGGCTGTGCCTAT GCCCACCCTTGGCTGCTCTCGGCAGGCTGCGGCCAGTGGATGTGGGTTTCATGAAGGCAT TGCATGAGAAGGTCAACATCGTGCCTCTCATCGCCAAAGCTGACTGTCTTGTCCCCAGTG AGATCCGGAAGCTGAAGGAGCGGGTGAGCCTGCCGTCGCACAGGGGCCTGGCCAGGGCCC TGGGGCTGAGAGTACCAGGGGGACTTGTCTGGCCTCAAATCTGATGGTCCTTGCCCCACC ACAGATCCGGGAGGAGATTGACAAGTTTGGGATCCATGTATACCAGTTCCCTGAGTGTGA CTCGGACGAGGATGAGGACTTCAAGCAGCAGGACCGGGAACTGAAGGTGAACATGCAGAC TGGTGGGGCAGGGGGGATGGAGCTGGTGAGGGGCAGAACCAGAGGGCTTTGTCTCCTTCA CATTGAGCCTGCTGGAGGAGGGCCAGGTCAGCCCAGTTGGGTGCAAGAGTCATTTGTTCT AGGAGTAGAGGACCTGTACCCCCTTCATCCAGGGCTAGAAGGTAAAGGTCACCATGTCTT TGCCTGGCTGGGGTGGGTCATGTGGGCCCCGTGTGGTGCTTGGCAGGTATGGAGCACTTG CCCAGATCCAGAGGTGCAGCAGTGGGCCAGGCCCCCAACCCCAACCCTCTTCCCATGGGT CACCAGAGGAAGGGGCTGCCCCAGTGGCACACCCTGGCTCCCAGATTTCTGAGCTCCAGG GTTGGTGGCTTTGGGTGCCCCGGCAGCTAGAGTGATGATGGAGACCATGCCAGGGGCAGG TGGCCACCAGGGCAGGGGCATCAGCATGGGGAGACATAGGCTCAGCCCTGGGGAGGGAAG GGGCAGCTGGAGGGGGTGGTTCTTGATGAGGGAGGAGATGAGGAGGGAGCATGCCTGGTT GGGCATAGCCTGGAAAGGCCCTGGAATGTGAGCCACATGGGCTCTGGCTCCAGCCAGGGG CAGAGAGGCCAGAAAGGGGCAACGCCAGGATCTCTTTGAGGAGAGATAGTTGATGGTGAT GCTGGAGGGGTGCCCCGGGAGTTACATGCCCGTTTCCCATCAGTAACCGTGCAATTACGC TCACCGGGTGTGAGCCTTTCTCCCTCCTTCCCCCAGGAGAGCGCGCCCTTCGCCGTTATA GGCAGCAACACGGTGGTGGAGGCCAAGGGGCAGCGGGTCCGGGGCCGACTGTACCCCTGG GGGATCGTGGAGGGTGAGTAGAGTCTTGGGGTACCAGGTCTGGTGGGGGAAGGCTGTCCT GGGCCGGCGCCAGCCCACTACCCACCCCCACCCCGCAGTGGAGAACCAGGCGCATTGCGA CTTCGTGAAGCTGCGCAACATGCTCATCCGCACGCATATGCACGACCTCAAGGACGTGAC GTGCGACGTGCACTACGAGAACTACCGCGCGCACTGCATCCAGCAGATGACCAGGTGCGC GCCCCAGCCGCGAGCCAGACCTCGCCCCTCTGGCCCCGCCCACGTCTCCATAACTGAGGG CCGGTCCTGTCAGCCCACCCAGACTTGAACTTTGCACCATTCCCTAAGCCCCCCCCCTCC CCCAGAGCCTGGTCTCCCTAGAACCAAGTCCAGGGCTGTGAGGGCTCCGGAGGGCAGGGC CTCAGCAGTGGCGGGGATGGGCCAGGCATCGCCAGCCCACGCTGAGCCTCCCGGTGGCGC CGCCCCGCCCATCCTCCCCCCCGCCCCGCGCAGCAAACTGACCCAGGACAGCCGCATGGA GAGCCCCATCCCGATCCTGCCGCTGCCCACCCCGGACGCCGAGACTGAGAAGCTTATCAG GATGAAGGATGAGGAAGTATGTGGGGCGGCGGGGGCGGCGGAGGCGGGCGTCAGGGATGC TCCTCCGCGGTGCTGCTCACCCGCCGGGTTGTCTCCGCCCGCAGCTGAGGCGCATGCAGG AGATGCTGCAGAGGATGAAGCAGCAGATGCAGGACCAGTGACGCTCGCCGCGGACACACC GTCCGTCTCCGGGACGCCCTCGCACCCCTGGACACCAGACCGGACTGTTCCCGACCCGGA GACGCGGGGCCACAGCCCCCAGCTGACCCTAATTTATTCTCAGCACCACCCCCTCCCAGG TCATTGTGTCTGTTTCCGAGGGGCCTGGACCGTAGCCCCCGCCCAGCTGGCCCTCTCTGA CCTTGGGGGATCAGGAGCGAAGTTGGGCGGGACTTCAGAGATCCGCCTCCCTTGCCCTTC CCCCGCCCCCGGACGGTCACAGCACCCAAACCGCAGGCCCTGCTCTGGCAGGCAGGCAAA GCTAGGCAGAAGAGGATTCCCAGGATCCTGGGTCTGTTCCCTGCCCCAGTGCTGCAGAAC GGACTTGGGAGCCCTCCTTTGCCTGCTCCCGCGGGTCACCCAGCGAGTGCTGAGACCCCA TTTTCTGTCGAGGCGGGCCGAGTCTTCCCTTATCCCCAGACGCCTAGCGGGCAGGGTTGG GCTGAATCAAATGGGAGCCCTCCAGACATAAGGAGGCCAGAGGCTGCAAGGAGCGGGGTC GTGACCGCTTACACCCCTTCTCCACAGCCCGGCCCGACCTGGAGGGCCCCCGGGGCACTG GGCGGTGAGCCACCTCCTGGCAACTCTCGGTGCCGTCCCCTGCCCTCGCTCGAGGCCTCT TCTCCCCAGCACCGCTGTGGTGTGCCGGGATCCTGAGCCTAGGCCTCCCGATGTTCCCAC CCGCATGATCCCTTCCCGCCACACGATGCTCCGTTTTCTTCCGTTGTGAATGCCGCGTCC TGTCCTGGTGACAGGAGAACAATGTTGGTGAACGTCGCAGCGGGTGTCCGAGTGCTCCGT GTGCCCCTGAGAGCGGGTGGGAGCGGAAGCCTGAGCGGCCTGCGGCCTCCGGCGATAGTG TGCTATCTGCCGCTGCAGCGCGCGTCCGCGCGGCCTCTGGGCTATTTCTGGCCAGGCCGC AGCACTGTGGTCGGTGCGGGCGTGGCAGGGGCGGGGCGGCCTTATCGCTCGGCTCTCCCG CCTACGCCTCCCGCTGCAGAGTAAGCCGGGCTGCCGTCTTCTCGCCATGGGCTCCGGTGA GTCTGGAGTCCGGTCGGGCCCCCGGCTGCTCCCTAGGCCGACCCGGGTTGAGAGGAGCTC TGGTCGTTTGGCTGCAGCTGGGAGAGACTTGGGTCAGACTTAGAGGGGACTTCCAGCCGG CGTGCGGGGTGGTCAGGGTGGAGAGGCTGGCGGGCTACCGGGACGCCGGGCATCAGGGGC TGGATGGAGCCGGGCCGGCAGTCTGGGTACTCAGAGATGTCGCCCAGGTGCCCGCCGACC GCTCGGCTTACTGCGGCGCTTCCCTTGCAGGGCCGCGCGGGGCGCTGAGCTTACTGCTCC TGCTGCTGGCCCCGCCGAGCCGCCCGGCCGCAGGTTGCCCGGCGCCCTGTAGCTGCGCGG GGACGCTCGTGGACTGCGGGCGCCGCGGGCTGACTTGGGCCTCGCTGCCGACCGCCTTCC CTGTCGACACAACCGAGCTGGTGCTGACCGGCAACAACCTGACGGCGCTGCCGCCGGGGC TGCTGGACGCGCTGCCCGCGCTGCGCACCGCACACCTGGGCGCCAACCCCTGGCGCTGCG ACTGCCGCCTTGTGCCGCTGCGCGCCTGGCTGGCCGGCCGCCCCGAGCGTGCGCCCTACC GCGACCTGCGTTGCGTGGCGCCCCCAGCGCTGCGCGGCCGCCTGCTGCCCTATCTGGCCG AGGACGAGCTGCGCGCCGCTTGCGCTCCCGGCCCGCTCTGCTGGGGGGCGCTGGCGGCGC AGCTTGCGCTGCTGGGCCTTGGGCTGCTGCACGCGTTGCTGCTGGTGCTGCTGCTGTGCC GCCTGCGGAGGCTGCGGGCCCGGGCCCGCGCTCGCGCCGCAGCCCGGCTGTCGCTGACCG ACCCGCTGGTGGCCGAGCGAGCCGGAACCGACGAGTCCTGAGGAGAGAACCGGTGCGTCC TGAGGAGAGAACCGGCGCTGGGCAACACGGGCCTGCAAACTCGACAGGACCCTGCCCGAG GGGCCCTCGCGCCAACCTGGACCGGTCCCCGCCTCCTCCGCTGCCCAATCTCTCAGACCC ACCCCACCTGCAGGCCCAGACCACGTGGGACAGAACTCCTGCCCACCCTACCCCGAGGGA GGCGAACCCGCACTTCCAGGCTTGGGAGGACCATGGGGCACAATGCGGTCCAGACCCTGC TGCGTCTCCCTTCCAAACTCTGGTGCTGAATAAACCCTTCTGATCTGGTCT OMIM ID 602724