KEGG T01001: GDF5

Homo sapiens (human): 8200

Entry

8200              CDS       T01001

Symbol

GDF5, BDA1C, BMP-14, BMP14, CDMP1, DUPANS, LAP-4, LAP4, OS5, SYM1B, SYNS2

Name

(RefSeq) growth differentiation factor 5

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

Network

nt06507 TGFB signaling

Element

N01428

BMP signaling pathway, BMP antagonist

N01453

BMP signaling pathway

Disease

H00466

Grebe dysplasia

H00467

Fibular hypoplasia and complex brachydactyly

H00482

Brachydactyly

H00483

Angel shaped phalangoepiphyseal dysplasia

H00484

Multiple synostosis syndrome

H00851

Proximal symphalangism

H02543

Acromesomelic dysplasia

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 neuropeptides [BR:hsa04052]
    8200 (GDF5)
Cytokines and neuropeptides [BR:hsa04052]
Cytokines
  Transforming growth factors (RSTK binding)
   8200 (GDF5)

SSDB

Motif

Pfam:

TGF_beta TGFb_propeptide

Other DBs

NCBI-GeneID:

NCBI-ProteinID:

OMIM:

HGNC:

Ensembl:

UniProt:

Structure

LinkDB

Position

20:complement(35433347..35454749)

AA seq 501 aa
MRLPKLLTFLLWYLAWLDLEFICTVLGAPDLGQRPQGTRPGLAKAEAKERPPLARNVFRP
GGHSYGGGATNANARAKGGTGQTGGLTQPKKDEPKKLPPRPGGPEPKPGHPPQTRQATAR
TVTPKGQLPGGKAPPKAGSVPSSFLLKKAREPGPPREPKEPFRPPPITPHEYMLSLYRTL
SDADRKGGNSSVKLEAGLANTITSFIDKGQDDRGPVVRKQRYVFDISALEKDGLLGAELR
ILRKKPSDTAKPAAPGGGRAAQLKLSSCPSGRQPAALLDVRSVPGLDGSGWEVFDIWKLF
RNFKNSAQLCLELEAWERGRAVDLRGLGFDRAARQVHEKALFLVFGRTKKRDLFFNEIKA
RSGQDDKTVYEYLFSQRRKRRAPLATRQGKRPSKNLKARCSRKALHVNFKDMGWDDWIIA
PLEYEAFHCEGLCEFPLRSHLEPTNHAVIQTLMNSMDPESTPPTCCVPTRLSPISILFID
SANNVVYKQYEDMVVESCGCR

NT seq 1506 nt +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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