Property Summary

NCBI Gene PubMed Count 120
Grant Count 90
R01 Count 43
Funding $9,861,591.65
PubMed Score 367.31
PubTator Score 263.40

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
malignant mesothelioma -3.900 0.000
osteosarcoma 1.555 0.000
atypical teratoid / rhabdoid tumor 1.600 0.006
medulloblastoma, large-cell 1.100 0.000

Synonym

Accession P43026 E1P5Q2 Q96SB1 GDF-5
Symbols OS5
LAP4
BDA1C
BMP14
CDMP1
LAP-4
SYM1B
SYNS2
BMP-14

Gene

PANTHER Protein Class (2)

PDB

3QB4   1WAQ   2BHK   3EVS   5HK5  

Gene RIF (94)

PMID Text
26739524 The data suggest that Ad-GDF-5 gene therapy is a potential treatment for IDD, which restores the functions of degenerative intervertebral disc through enhancing the ECM production of human NP cells.
25894512 results demonstrate that SNP rs143383 of GDF5 is a compelling risk factor for both knee and hand osteoarthritis (OA) and provide further support for GDF5 in the etiology of OA [meta-analysis]
25820810 Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C.
25757091 An association of SNP in GDF5 with temporomandibular joint osteoarthritis in female Han Chinese.
25755766 our results showed that GDF-5 and BMPRII expressed both in normal and degenerated intervertebral disc tissues, and GDF-5 might have an inhibition effect on degenerated lumbar intervertebral discs
25467786 This meta-analysis finds that the C allele and CC genotype of the GDF5 gene are protective for knee osteoarthritis susceptibility.
25223801 These results suggest that obesity leads to upregulation of GDF5 expression responsible for the promotion of brown adipogenesis through a mechanism relevant to activation of the NF-kappaB pathway.
25174448 The proregion is stabilized by an intramolecular disulfide bond. The isolated proregion folds independently of the mature domain.
25092592 missense mutations p.T201P and p.L263P interfere with the protein structure and thereby reduce the amount of fully processed, biologically active GDF5, finally causing the clinical loss of function phenotype.
24861163 High GDF5 expression is associated with osteoarthritis.
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AA Sequence

MRLPKLLTFLLWYLAWLDLEFICTVLGAPDLGQRPQGTRPGLAKAEAKERPPLARNVFRPGGHSYGGGAT      1 - 70
NANARAKGGTGQTGGLTQPKKDEPKKLPPRPGGPEPKPGHPPQTRQATARTVTPKGQLPGGKAPPKAGSV     71 - 140
PSSFLLKKAREPGPPREPKEPFRPPPITPHEYMLSLYRTLSDADRKGGNSSVKLEAGLANTITSFIDKGQ    141 - 210
DDRGPVVRKQRYVFDISALEKDGLLGAELRILRKKPSDTAKPAAPGGGRAAQLKLSSCPSGRQPASLLDV    211 - 280
RSVPGLDGSGWEVFDIWKLFRNFKNSAQLCLELEAWERGRAVDLRGLGFDRAARQVHEKALFLVFGRTKK    281 - 350
RDLFFNEIKARSGQDDKTVYEYLFSQRRKRRAPLATRQGKRPSKNLKARCSRKALHVNFKDMGWDDWIIA    351 - 420
PLEYEAFHCEGLCEFPLRSHLEPTNHAVIQTLMNSMDPESTPPTCCVPTRLSPISILFIDSANNVVYKQY    421 - 490
EDMVVESCGCR                                                               491 - 501
//

Text Mined References (126)

PMID Year Title
26739524 2016 Adenovirus-mediated GDF-5 promotes the extracellular matrix expression in degenerative nucleus pulposus cells.
26643732 2016 A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal.
25894512 2015 A comprehensive meta-analysis of association between genetic variants of GDF5 and osteoarthritis of the knee, hip and hand.
25820810 2015 Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C.
25757091 2015 Association of GDF5, SMAD3 and RUNX2 polymorphisms with temporomandibular joint osteoarthritis in female Han Chinese.
25755766 2015 Role of growth differentiation factor-5 and bone morphogenetic protein type II receptor in the development of lumbar intervertebral disc degeneration.
25467786 2014 Association between GDF5 rs143383 polymorphism and knee osteoarthritis: an updated meta-analysis based on 23,995 subjects.
25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
25281659 2015 A novel common variant in DCST2 is associated with length in early life and height in adulthood.
25223801 2014 Nuclear factor-?B is a common upstream signal for growth differentiation factor-5 expression in brown adipocytes exposed to pro-inflammatory cytokines and palmitate.
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