GDF5 (growth differentiation factor 5)

2004-02-01  

Identity

HGNC
LOCATION
20q11.22
LOCUSID
ALIAS
BDA1C,BMP-14,BMP14,CDMP1,DUPANS,LAP-4,LAP4,OS5,SYM1B,SYNS2
FUSION GENES

Other Information

Locus ID:

NCBI: 8200
MIM: 601146
HGNC: 4220
Ensembl: ENSG00000125965

Variants:

dbSNP: 8200
ClinVar: 8200
TCGA: ENSG00000125965
COSMIC: GDF5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125965ENST00000374369P43026
ENSG00000125965ENST00000374369F1T0J1
ENSG00000125965ENST00000374372P43026
ENSG00000125965ENST00000374372F1T0J1

Expression (GTEx)

0
1
2
3
4
5
6
7
8

Pathways

PathwaySourceExternal ID
Cytokine-cytokine receptor interactionKEGGko04060
TGF-beta signaling pathwayKEGGko04350
Cytokine-cytokine receptor interactionKEGGhsa04060
TGF-beta signaling pathwayKEGGhsa04350
Hippo signaling pathwayKEGGhsa04390
Hippo signaling pathwayKEGGko04390
BMP signalingKEGGhsa_M00679
BMP signalingKEGGM00679
Extracellular matrix organizationREACTOMER-HSA-1474244
Elastic fibre formationREACTOMER-HSA-1566948
Molecules associated with elastic fibresREACTOMER-HSA-2129379

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
181930452008Common variants in the GDF5-UQCC region are associated with variation in human height.162
173846412007A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis.146
176165132007An SNP in the 5'-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage.74
176165132007An SNP in the 5'-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage.74
194798802009Large-scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee, and hand.65
194798802009Large-scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee, and hand.65
161274652005Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.59
182992872008A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5' UTR of GDF5 with osteoarthritis susceptibility.56
182992872008A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5' UTR of GDF5 with osteoarthritis susceptibility.56
208708062011The GDF5 rs143383 polymorphism is associated with osteoarthritis of the knee with genome-wide statistical significance.55

Citation

Dessen P

GDF5 (growth differentiation factor 5)

Atlas Genet Cytogenet Oncol Haematol. 2004-02-01

Online version: http://atlasgeneticsoncology.org/gene/40702/gdf5