GDF5

GDF5
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1WAQ, 2BHK, 3EVS, 3QB4
Identifiers
Aliases	GDF5, BDA1C, BMP-14, BMP14, CDMP1, LAP-4, LAP4, OS5, SYM1B, SYNS2, growth differentiation factor 5
External IDs	OMIM: 601146 MGI: 95688 HomoloGene: 468 GeneCards: GDF5
Gene ontology Molecular function • cytokine activity • BMP binding • protein binding • identical protein binding • transforming growth factor beta receptor binding • growth factor activity • receptor binding Cellular component • membrane • plasma membrane • extracellular region • intracellular • extracellular space Biological process • regulation of apoptotic process • negative regulation of neuron apoptotic process • forelimb morphogenesis • negative regulation of mesenchymal cell apoptotic process • regulation of MAPK cascade • SMAD protein signal transduction • chondrocyte differentiation • cell development • regulation of multicellular organism growth • SMAD protein import into nucleus • cell-cell signaling • positive regulation of pathway-restricted SMAD protein phosphorylation • hindlimb morphogenesis • chondroblast differentiation • cartilage development • negative regulation of chondrocyte differentiation • transmembrane receptor protein serine/threonine kinase signaling pathway • embryonic limb morphogenesis • positive regulation of chondrocyte differentiation • positive regulation of neuron differentiation • negative regulation of epithelial cell proliferation • positive regulation of BMP signaling pathway • transforming growth factor beta receptor signaling pathway • response to mechanical stimulus • ossification involved in bone remodeling Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	8200	14563
Ensembl	ENSG00000125965	ENSMUSG00000038259
UniProt	P43026	P43027
RefSeq (mRNA)	NM_000557 NM_001319138	NM_008109
RefSeq (protein)	NP_000548 NP_001306067	NP_032135.2 NP_032135
Location (UCSC)	Chr 20: 35.43 – 35.45 Mb	Chr 2: 155.94 – 155.95 Mb
PubMed search

1WAQ, 2BHK, 3EVS, 3QB4

8200

14563

ENSG00000125965

ENSMUSG00000038259

P43026

P43027

NM_000557
NM_001319138

NM_008109

NP_000548
NP_001306067

NP_032135.2
NP_032135

Growth/differentiation factor 5 is a protein that in humans is encoded by the GDF5 gene.

The protein encoded by this gene is closely related to the bone morphogenetic protein (BMP) family and is a member of the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Mutations in this gene are associated with acromesomelic dysplasia, Hunter-Thompson type; brachydactyly, type C; and chondrodysplasia, Grebe type. These associations confirm that the gene product plays a role in skeletal development.

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Wikipedia