| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
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|---|---|
Gene ID | 8200 |
Name | GDF5 |
Synonym | BDA1C|BMP14|CDMP1|LAP4|OS5|SYNS2;growth differentiation factor 5;GDF5;growth differentiation factor 5 |
Definition | CDMP-1|GDF-5|cartilage-derived morphogenetic protein-1|growth/differentiation factor 5|radotermin |
Position | 20q11.2 |
Gene Type | protein-coding |
|
PAH Type |
Description |
PAH | Functional characterization of bone morphogenetic protein binding sites and Smad1/5 activation in human vascular cells. |
| More detail of all Human literatures about GDF5 | |
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Pathways and Diseases |
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Pathway | TGF-beta signaling pathway;KEGG PATHWAY;hsa04350 |
Pathway | Cytokine-cytokine receptor interaction;KEGG PATHWAY;hsa04060 |
Pathway | TGF-beta signaling pathway;PANTHER;P00052 |
Disease | Multiple synostoses syndrome type 1;OMIM |
Disease | Height;NHGRI |
Disease | Brachydactyly, type A2;OMIM |
Disease | Fibular hypoplasia and complex brachydactyly;OMIM |
Disease | Acromesomelic dysplasia, Hunter-Thompson type;OMIM |
Disease | Osteoarthritis, Knee;GAD |
Disease | osteoarthritis;GAD |
Disease | METABOLIC;GAD |
Disease | Symphalangism, proximal;OMIM |
Disease | Chondrodysplasia, Grebe type;OMIM |
Disease | Fractures, Bone;GAD |
Disease | Brachydactyly, type C;OMIM |
Disease | DEVELOPMENTAL;GAD |
Disease | height;GAD |
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External Links |
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Links to Entrez Gene | 8200 |
Links to all GeneRIF Items | 8200 |
Links to iHOP | 8200 |
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Sequence Information |
|
Nucleotide Sequence |
>8200 : length: 1506 atgagactccccaaactcctcactttcttgctttggtacctggcttggctggacctggaa ttcatctgcactgtgttgggtgcccctgacttgggccagagaccccaggggaccaggcca ggattggccaaagcagaggccaaggagaggccccccctggcccggaacgtcttcaggcca gggggtcacagctatggtgggggggccaccaatgccaatgccagggcaaagggaggcacc gggcagacaggaggcctgacacagcccaagaaggatgaacccaaaaagctgccccccaga ccgggcggccctgaacccaagccaggacaccctccccaaacaaggcaggctacagcccgg actgtgaccccaaaaggacagcttcccggaggcaaggcacccccaaaagcaggatctgtc cccagctccttcctgctgaagaaggccagggagcccgggcccccacgagagcccaaggag ccgtttcgcccaccccccatcacaccccacgagtacatgctctcgctgtacaggacgctg tccgatgctgacagaaagggaggcaacagcagcgtgaagttggaggctggcctggccaac accatcaccagctttattgacaaagggcaagatgaccgaggtcccgtggtcaggaagcag aggtacgtgtttgacattagtgccctggagaaggatgggctgctgggggccgagctgcgg atcttgcggaagaagccctcggacacggccaagccagcggcccccggaggcgggcgggct gcccagctgaagctgtccagctgccccagcggccggcagccggcctccttgctggatgtg cgctccgtgccaggcctggacggatctggctgggaggtgttcgacatctggaagctcttc cgaaactttaagaactcggcccagctgtgcctggagctggaggcctgggaacggggcagg gccgtggacctccgtggcctgggcttcgaccgcgccgcccggcaggtccacgagaaggcc ctgttcctggtgtttggccgcaccaagaaacgggacctgttctttaatgagattaaggcc cgctctggccaggacgataagaccgtgtatgagtacctgttcagccagcggcgaaaacgg cgggccccactggccactcgccagggcaagcgacccagcaagaaccttaaggctcgctgc agtcggaaggcactgcatgtcaacttcaaggacatgggctgggacgactggatcatcgca ccccttgagtacgaggctttccactgcgaggggctgtgcgagttcccattgcgctcccac ctggagcccacgaatcatgcagtcatccagaccctgatgaactccatggaccccgagtcc acaccacccacctgctgtgtgcccacgcggctgagtcccatcagcatcctcttcattgac tctgccaacaacgtggtgtataagcagtatgaggacatggtcgtggagtcgtgtggctgc aggtag |
Protein Sequence |
>8200 : length: 501 MRLPKLLTFLLWYLAWLDLEFICTVLGAPDLGQRPQGTRPGLAKAEAKERPPLARNVFRP GGHSYGGGATNANARAKGGTGQTGGLTQPKKDEPKKLPPRPGGPEPKPGHPPQTRQATAR TVTPKGQLPGGKAPPKAGSVPSSFLLKKAREPGPPREPKEPFRPPPITPHEYMLSLYRTL SDADRKGGNSSVKLEAGLANTITSFIDKGQDDRGPVVRKQRYVFDISALEKDGLLGAELR ILRKKPSDTAKPAAPGGGRAAQLKLSSCPSGRQPASLLDVRSVPGLDGSGWEVFDIWKLF RNFKNSAQLCLELEAWERGRAVDLRGLGFDRAARQVHEKALFLVFGRTKKRDLFFNEIKA RSGQDDKTVYEYLFSQRRKRRAPLATRQGKRPSKNLKARCSRKALHVNFKDMGWDDWIIA PLEYEAFHCEGLCEFPLRSHLEPTNHAVIQTLMNSMDPESTPPTCCVPTRLSPISILFID SANNVVYKQYEDMVVESCGCR |