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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for GDF5 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 8200 Official gene symbol GDF5 Full name growth differentiation factor 5 Aliases ,BMP14,CDMP1,LAP4,OS5,SYNS2, Gene summary The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Mutations in this gene are associated with acromesomelic dysplasia, Hunter-Thompson type; brachydactyly, type C; and chondrodysplasia, Grebe type. These associations confirm that the gene product plays a role in skeletal development. [provided by RefSeq] Location Chromosome: 20   Locus: 20q11.2 Gene position 34026027 - 34021149  Map Viewer Gene orientation minus Gene size 4879 bp Gene sequence >GDF5:complement(4217241..4222119):Length=4879 CTCCTTCAAGCCCTCAGTCAGTTGTGCAGGAGAAAGGGGGCGGTTGGCTTTCTCCTTTCA AGAACGAGTTATTTTCAGCTGCTGACTGGAGACGGTGCACGTCTGGATACGAGAGCATTT CCACTATGGGACTGGATACAAACACACACCCGGCAGACTTCAAGAGTCTCAGACTGAGGA GAAAGCCTTTCCTTCTGCTGCTACTGCTGCTGCCGCTGCTTTTGAAAGTCCACTCCTTTC ATGGTTTTTCCTGCCAAACCAGAGGCACCTTTGCTGCTGCCGCTGTTCTCTTTGGTGTCA TTCAGCGGCTGGCCAGAGGATGAGACTCCCCAAACTCCTCACTTTCTTGCTTTGGTACCT GGCTTGGCTGGACCTGGAATTCATCTGCACTGTGTTGGGTGCCCCTGACTTGGGCCAGAG ACCCCAGGGGACCAGGCCAGGATTGGCCAAAGCAGAGGCCAAGGAGAGGCCCCCCCTGGC CCGGAACGTCTTCAGGCCAGGGGGTCACAGCTATGGTGGGGGGGCCACCAATGCCAATGC CAGGGCAAAGGGAGGCACCGGGCAGACAGGAGGCCTGACACAGCCCAAGAAGGATGAACC CAAAAAGCTGCCCCCCAGACCGGGCGGCCCTGAACCCAAGCCAGGACACCCTCCCCAAAC AAGGCAGGCTACAGCCCGGACTGTGACCCCAAAAGGACAGCTTCCCGGAGGCAAGGCACC CCCAAAAGCAGGATCTGTCCCCAGCTCCTTCCTGCTGAAGAAGGCCAGGGAGCCCGGGCC CCCACGAGAGCCCAAGGAGCCGTTTCGCCCACCCCCCATCACACCCCACGAGTACATGCT CTCGCTGTACAGGACGCTGTCCGATGCTGACAGAAAGGGAGGCAACAGCAGCGTGAAGTT GGAGGCTGGCCTGGCCAACACCATCACCAGCTTTATTGACAAAGGGCAAGGTGAGGGGGC GGGGTGGCAGGGGCACGGCTCAGAGGGAGGGGCATCTGCATGAATGGAGGGGCTTTCAAA GCCCTGGCACTGCCCTGGTGGGAGACACTGTGTGCATCTGGCCCGGGGTGGGTGTCTGGG GACACTGACACATATCTCACACATAGCAGATCCTAGGCTGCCCACACATCAGGGCTGGAG GGCACCTAGGAAGCACCAGGTCCAACGCCTGCAAGGTGCAGAGTGGGCACTAAAGCCTAG AGAAGAGACAAGACCTGCCAGTTCGTGGCAGAGTTGGAGACCAGATTCCGAGACTTGATT GCTCAGTTGTGCATCTGTACCTGCTGGGCTGGCCGAACTTTCCAAGCTCCACAGGTTTGT AGGCGGTCTCAGACGGCAGAGAAAGAAATGAATCTTGAGGTCCCCATGCTTCTGCAACTT TGCCCTCAGGCAAGGGGATAGAGGAGGCAAGAGAGGTGCACACAGTAAATGGGGCATCTT GGAGTCATGGAATGATGTTCAGATACATGGGGAGGGAGCAGACCCAGGGCCTAACTCGCA GTATGACCTTGGGAAAGCTCCTTCTCACTTGGGGTCTCCGTTTTCCCATCTGTACACCTA TATGGGGTTGGACAGGGTGGTTTCTGAGAGCCCTTCCAACATGAAAACTTTAGATGCTGT CCTGAACATGCCTCATTCTCCTCATTAACTCCAGAGACTACCTGCTCCCCTCTGTCTCTC TCGGCCCACCTAATGTTACTGTTGCAGCTTTTCCTCTCCACTTGCTGTGTGATCTAAGCA AGTCCCTCCCCCTCTCAGGGCCTCAGTTTCTTCCTAGTGTGAAGAGGGAGGTGGGCTGTT GGTCGCTCAAGTTGCCTGCAGCTCATTTGCTCTGGTCCTAGGCTGGCAGGGTGGGGGAGG GGTCAGAGGGTGGGAGAGGCTCCTCATTAGAGCTGGCCTGGAGGGGGCTGCCAGGGGGCG GGGGAGGCACAGAGGCAGCAGGTCTGGCTGAGGTGGGGGAGGTGGTCTGGCTGCCTGCCC AGCCAGGGAAAGCTGTGACCCCTTGGGGGCTCATAAAATAAGTCCGTGTGCCCCCCAGCA CTAAGGGAGCTTGGAGAGGGGGAGACGGGGAGTTTAAAGGCCTAATTAGTCACCTTCTAG AGCAATATATGAAAGCTCCCCAATGGCAAATTGCAATTTAGGAAGGAGGGCATGCTGATT CGGAGATACTACTGAGCTTCTCACATACACATACATAGCCTTATGTTTATACACACATGC TGAATCACACATGTACATGCATGCTGACTCACACACACACGTGCTGAATCACACACGTAC ACACATGCCGAATCACACACATATGCATGTGCACACACACCTTCTTACATACACACACAA GATCAATCATGCATATACAGACATATATGTGCTCTTCAAATAGTCACACAAGCCCAATCA TTTATACATATAATGCGTCATTAACGTATACACTCTTTCATATTCACATATGAACCCAAT CACACACATGCATACAACTGTAACACACACACATGCTCAGGAGAGTAAGACACATAGGCA ACAAAATCCTTGCACTGGAAAGCCAGGAAAATTGGGCTGTAGGTCAGTGTGGACCAGCTT TGTCATTAACTTGCTGTGTGACCTTAGTCAAGTCACTCCCCATCTCTGTGCCTCATCTGC ATAACAAGAGCACCAAGGTCTCCTTTAAGGGATGGTGGAAGCAGCTGAGAATTTGAGCAA GTCATCTAACTTCTCTGAACCTTGGGATTCTCCTCTGGAAAAGCGTGTATTTTTTTTTTT TTTTTTTTTTTTTTTTTTTAGCCAGGGTCTTTCTCTGTTGCCCAGGCCGGAGTGCAATAG CGAATTCACGGCTCACTGAAGCCTTGACCTCCCTGGGGTCAATCAATCCTCCCACCTCAG CCTCCTGAGTAGCTGGGACTACATGTGCACGCCACCATGCCTGGTTAATTTTTGTATTTT TTGTAGAGACAGAGTGTCACCATGTTGTGCAGGCTGGTTTCGAACTCCGGAGCTCAAGCA ATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACTGTGCCCAGT CAACAGGAGTAATTTTAATGCTCACTCCACCTATCTCACAAATGAGACATCACGTTAGCT CATGGCTGGGAGAGAGATAGGTAGAAGGCAGTTACAAAGCTGATAAATCTCTGATAACAC GTATATCATGACACAAACACCAGAATCACGCAAATCATCCCCAGCCACATCTTCAGGTGA ACACCCCTACTTGGTCGGCTATGTAGGAAATGCTCTCATTTTCAAAAAGGCTCTCAGTGG TTTGGCTCTTGGCTTCTGTCAGAATGGGGCAGAGGTGAAAGAAAGCTCTCTGGACGGGGA GAGAGCTGGGGCCTTCCCCCGCAGCCTCGAAGTGACTGGCTCCCTTGGTGAGGTTGCAGG GAATGACTTCTGGGTGTTCTCTCTAGATGACCGAGGTCCCGTGGTCAGGAAGCAGAGGTA CGTGTTTGACATTAGTGCCCTGGAGAAGGATGGGCTGCTGGGGGCCGAGCTGCGGATCTT GCGGAAGAAGCCCTCGGACACGGCCAAGCCAGCGGCCCCCGGAGGCGGGCGGGCTGCCCA GCTGAAGCTGTCCAGCTGCCCCAGCGGCCGGCAGCCGGCCTCCTTGCTGGATGTGCGCTC CGTGCCAGGCCTGGACGGATCTGGCTGGGAGGTGTTCGACATCTGGAAGCTCTTCCGAAA CTTTAAGAACTCGGCCCAGCTGTGCCTGGAGCTGGAGGCCTGGGAACGGGGCAGGGCCGT GGACCTCCGTGGCCTGGGCTTCGACCGCGCCGCCCGGCAGGTCCACGAGAAGGCCCTGTT CCTGGTGTTTGGCCGCACCAAGAAACGGGACCTGTTCTTTAATGAGATTAAGGCCCGCTC TGGCCAGGACGATAAGACCGTGTATGAGTACCTGTTCAGCCAGCGGCGAAAACGGCGGGC CCCACTGGCCACTCGCCAGGGCAAGCGACCCAGCAAGAACCTTAAGGCTCGCTGCAGTCG GAAGGCACTGCATGTCAACTTCAAGGACATGGGCTGGGACGACTGGATCATCGCACCCCT TGAGTACGAGGCTTTCCACTGCGAGGGGCTGTGCGAGTTCCCATTGCGCTCCCACCTGGA GCCCACGAATCATGCAGTCATCCAGACCCTGATGAACTCCATGGACCCCGAGTCCACACC ACCCACCTGCTGTGTGCCCACGCGGCTGAGTCCCATCAGCATCCTCTTCATTGACTCTGC CAACAACGTGGTGTATAAGCAGTATGAGGACATGGTCGTGGAGTCGTGTGGCTGCAGGTA GCAGCACTGGCCCTCTGTCTTCCTGGGTGGCACATCCCAAGAGCCCCTTCCTGCACTCCT GGAATCACAGAGGGGTCAGGAAGCTGTGGCAGGAGCATCTACACAGCTTGGGTGAAAGGG GATTCCAATAAGCTTGCTCGCTCTCTGAGTGTGACTTGGGCTAAAGGCCCCCTTTTATCC ACAAGTTCCCCTGGCTGAGGATTGCTGCCCGTCTGCTGATGTGACCAGTGGCAGGCACAG GTCCAGGGAGACAGACTCTGAATGGGACTGAGTCCCAGGAAACAGTGCTTTCCGATGAGA CTCAGCCCACCATTTCTCCTCACCTGGGCCTTCTCAGCCTCTGGACTCTCCTAAGCACCT CTCAGGAGAGCCACAGGTGCCACTGCCTCCTCAAATCACATTTGTGCCTGGTGACTTCCT GTCCCTGGGACAGTTGAGAAGCTGACTGGGCAAGAGTGGGAGAGAAGAGGAGAGGGCTTG GATAGAGTTGAGGAGTGTGAGGCTGTTAGACTGTTAGATTTAAATGTATATTGATGAGAT AAAAAGCAAAACTGTGCCT OMIM ID 601146