Contents

GDF5

Protein-coding gene in the species Homo sapiens

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, DUPANS
External IDs	OMIM: 601146; MGI: 95688; HomoloGene: 468; GeneCards: GDF5; OMA:GDF5 - orthologs
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20q11.22 Start 35,433,347 bp[1] End 35,454,746 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 H1|2 77.26 cM Start 155,782,943 bp[2] End 155,787,287 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in parotid gland pericardium cartilage tissue synovial joint synovial membrane oral mucosa minor salivary glands sensory nervous system pharynx upper respiratory tract Top expressed in finger elbow hand joint joints of the foot lacrimal gland interphalangeal joint of hand parotid gland annulus fibrosus disci intervertebralis molar cuneiform bones More reference expression data BioGPS More reference expression data
Gene ontology Molecular function cytokine activity BMP binding protein binding identical protein binding transforming growth factor beta receptor binding growth factor activity signaling receptor binding Cellular component membrane plasma membrane extracellular region 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 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 regulation of signaling receptor activity regulation of SMAD protein signal transduction BMP signaling pathway Sources:Amigo / QuickGO
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 Location (UCSC) Chr 20: 35.43 – 35.45 Mb Chr 2: 155.78 – 155.79 Mb PubMed search [3] [4]
Wikidata
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Growth/differentiation factor 5 is a protein that in humans is encoded by the GDF5 gene.^[5][6][7]

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 osteochondrodysplasia, Grebe type. These associations confirm that the gene product plays a role in skeletal development.^[7]

GDF5 is expressed in the developing central nervous system,^[8] and has a role in skeletal and joint development.^[9][10][11] It also increases the survival of neurones that respond to the neurotransmitter dopamine, and is a potential therapeutic molecule associated with Parkinson's disease.^[12]

See also[edit]

• Chondrodysplasia, Grebe type

References[edit]

Further reading[edit]

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