KEGG   Homo sapiens (human): 8200Help
Entry
8200              CDS       T01001                                 

Gene name
GDF5, BDA1C, BMP-14, BMP14, CDMP1, LAP-4, LAP4, OS5, SYM1B, SYNS2
Definition
(RefSeq) growth differentiation factor 5
  KO
K04664  growth differentiation factor 5
Organism
hsa  Homo sapiens (human)
Pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa04350  TGF-beta signaling pathway
hsa04390  Hippo signaling pathway
Module
hsa_M00679  BMP signaling
Disease
H00466  Grebe dysplasia
H00467  Fibular hypoplasia and complex brachydactyly
H00482  Brachydactyly
H00483  Angel shaped phalangoepiphyseal dysplasia
H00484  Multiple synostosis syndrome
H00851  Proximal symphalangism
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04350 TGF-beta signaling pathway
    8200 (GDF5)
   04390 Hippo signaling pathway
    8200 (GDF5)
  09133 Signaling molecules and interaction
   04060 Cytokine-cytokine receptor interaction
    8200 (GDF5)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04052 Cytokines and growth factors [BR:hsa04052]
    8200 (GDF5)
Cytokines and growth factors [BR:hsa04052]
 Cytokines
  Transforming growth factors (RSTK binding)
   8200 (GDF5)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: TGF_beta TGFb_propeptide
Motif
Other DBs
NCBI-GeneID: 8200
NCBI-ProteinID: NP_000548
OMIM: 601146
HGNC: 4220
Ensembl: ENSG00000125965
Vega: OTTHUMG00000032341
Pharos: P43026(Tbio)
UniProt: P43026 F1T0J1
Structure
PDB: 

Position
20q11.22
AA seq 501 aa AA seqDB search
MRLPKLLTFLLWYLAWLDLEFICTVLGAPDLGQRPQGTRPGLAKAEAKERPPLARNVFRP
GGHSYGGGATNANARAKGGTGQTGGLTQPKKDEPKKLPPRPGGPEPKPGHPPQTRQATAR
TVTPKGQLPGGKAPPKAGSVPSSFLLKKAREPGPPREPKEPFRPPPITPHEYMLSLYRTL
SDADRKGGNSSVKLEAGLANTITSFIDKGQDDRGPVVRKQRYVFDISALEKDGLLGAELR
ILRKKPSDTAKPAAPGGGRAAQLKLSSCPSGRQPAALLDVRSVPGLDGSGWEVFDIWKLF
RNFKNSAQLCLELEAWERGRAVDLRGLGFDRAARQVHEKALFLVFGRTKKRDLFFNEIKA
RSGQDDKTVYEYLFSQRRKRRAPLATRQGKRPSKNLKARCSRKALHVNFKDMGWDDWIIA
PLEYEAFHCEGLCEFPLRSHLEPTNHAVIQTLMNSMDPESTPPTCCVPTRLSPISILFID
SANNVVYKQYEDMVVESCGCR
NT seq 1506 nt NT seq  +upstreamnt  +downstreamnt
atgagactccccaaactcctcactttcttgctttggtacctggcttggctggacctggaa
ttcatctgcactgtgttgggtgcccctgacttgggccagagaccccaggggaccaggcca
ggattggccaaagcagaggccaaggagaggccccccctggcccggaacgtcttcaggcca
gggggtcacagctatggtgggggggccaccaatgccaatgccagggcaaagggaggcacc
gggcagacaggaggcctgacacagcccaagaaggatgaacccaaaaagctgccccccaga
ccgggcggccctgaacccaagccaggacaccctccccaaacaaggcaggctacagcccgg
actgtgaccccaaaaggacagcttcccggaggcaaggcacccccaaaagcaggatctgtc
cccagctccttcctgctgaagaaggccagggagcccgggcccccacgagagcccaaggag
ccgtttcgcccaccccccatcacaccccacgagtacatgctctcgctgtacaggacgctg
tccgatgctgacagaaagggaggcaacagcagcgtgaagttggaggctggcctggccaac
accatcaccagctttattgacaaagggcaagatgaccgaggtcccgtggtcaggaagcag
aggtacgtgtttgacattagtgccctggagaaggatgggctgctgggggccgagctgcgg
atcttgcggaagaagccctcggacacggccaagccagcggcccccggaggcgggcgggct
gcccagctgaagctgtccagctgccccagcggccggcagccggccgccttgctggatgtg
cgctccgtgccaggcctggacggatctggctgggaggtgttcgacatctggaagctcttc
cgaaactttaagaactcggcccagctgtgcctggagctggaggcctgggaacggggcagg
gccgtggacctccgtggcctgggcttcgaccgcgccgcccggcaggtccacgagaaagcc
ctgttcctggtgtttggccgcaccaagaaacgggacctgttctttaatgagattaaggcc
cgctctggccaggacgataagaccgtgtatgagtacctgttcagccagcggcgaaaacgg
cgggccccactggccactcgccagggcaagcgacccagcaagaaccttaaggctcgctgc
agtcggaaggcactgcatgtcaacttcaaggacatgggctgggacgactggatcatcgca
ccccttgagtacgaggctttccactgcgaggggctgtgcgagttcccattgcgctcccac
ctggagcccacgaatcatgcagtcatccagaccctgatgaactccatggaccccgagtcc
acaccacccacctgctgtgtgcccacgcggctgagtcccatcagcatcctcttcattgac
tctgccaacaacgtggtgtataagcagtatgaggacatggtcgtggagtcgtgtggctgc
aggtag

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