InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: GDF5

Summary

InnateDB Gene

IDBG-70038.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GDF5

Gene Name

growth differentiation factor 5

Synonyms

BDA1C; BMP-14; BMP14; CDMP1; LAP-4; LAP4; OS5; SYM1B; SYNS2

Species

Homo sapiens

Ensembl Gene

ENSG00000125965

Encoded Proteins

IDBP-70040

growth differentiation factor 5

IDBP-70042

growth differentiation factor 5

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and 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. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 20:35433347-35454746

Strand

Reverse strand

Band

q11.22

Transcripts

ENST00000374372	ENSP00000363492
ENST00000374369	ENSP00000363489

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	10 [view]
Protein-Protein	9 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005102	receptor binding
GO:0005125	cytokine activity
GO:0005515	protein binding
GO:0008083	growth factor activity

Biological Process

GO:0002062	chondrocyte differentiation
GO:0007178	transmembrane receptor protein serine/threonine kinase signaling pathway
GO:0007179	transforming growth factor beta receptor signaling pathway
GO:0007267	cell-cell signaling
GO:0030198	extracellular matrix organization
GO:0030326	embryonic limb morphogenesis
GO:0032332	positive regulation of chondrocyte differentiation
GO:0035136	forelimb morphogenesis
GO:0035137	hindlimb morphogenesis
GO:0040007	growth
GO:0040014	regulation of multicellular organism growth
GO:0043524	negative regulation of neuron apoptotic process
GO:0045666	positive regulation of neuron differentiation
GO:0050680	negative regulation of epithelial cell proliferation
GO:2001054	negative regulation of mesenchymal cell apoptotic process

Cellular Component

GO:0005576	extracellular region
GO:0005615	extracellular space
GO:0005886	plasma membrane

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000038259

View Gene Order

ENSBTAG00000004429

Not yet available

Pathways

NETPATH

REACTOME

REACT_150331

Molecules associated with elastic fibres pathway

REACT_150366

Elastic fibre formation pathway

REACT_118779

Extracellular matrix organization pathway

KEGG

hsa04350

TGF-beta signaling pathway pathway

hsa04060

Cytokine-cytokine receptor interaction pathway

INOH

INOH website

GPCR signaling pathway

INOH website

TGF-beta signaling pathway

INOH website

BMP2 signaling pathway

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.1573 Hs.737014

RefSeq

NM_000557

HUGO

OMIM

CCDS

CCDS13254

HPRD

03092

IMGT

EMBL

GenPept

RNA Seq Atlas