Hs07181504_cn

• Gene Symbol: GDF5
• Assay Reference Genome Location: Chr.20:35447438 on build GRCh38
• Cytoband: 20q11.22

Target Gene Details

• Entrez Gene ID: 8200
• Gene Name: growth differentiation factor 5
• Gene Aliases: BDA1C, BMP-14, BMP14, CDMP1, LAP-4, LAP4, OS5, SYM1B, SYNS2
• Location: Chr.20:35433347-35454746 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GDF5	NM_001319138.1			NP_001306067.1
	BC032495.1			AAH32495.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv833963	Chr.20:35330383 - 35498678 on Build GRCh38	Gain	UQCC1 CEP250 MIR1289-1 GDF5

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

growth factor

Gene Ontology Categories:

Process(es)

chondrocyte differentiation
transforming growth factor beta receptor signaling pathway
SMAD protein import into nucleus
cell-cell signaling
positive regulation of pathway-restricted SMAD protein phosphorylation
embryonic limb morphogenesis
positive regulation of BMP signaling pathway
negative regulation of chondrocyte differentiation
positive regulation of chondrocyte differentiation
forelimb morphogenesis
hindlimb morphogenesis
growth
regulation of multicellular organism growth
regulation of apoptotic process
regulation of MAPK cascade
negative regulation of neuron apoptotic process
positive regulation of neuron differentiation
cell development
negative regulation of epithelial cell proliferation
SMAD protein signal transduction
chondroblast differentiation
mitophagy in response to mitochondrial depolarization
negative regulation of mesenchymal cell apoptotic process

Function(s)

cytokine activity
transforming growth factor beta receptor binding
protein binding
growth factor activity
BMP binding
identical protein binding