GDF5

GENE INFORMATION

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Gene name

GDF5 (HGNC Symbol)

Synonyms

BMP14, CDMP1

Description

Growth differentiation factor 5 (HGNC Symbol)

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]

Chromosome

20

Cytoband

q11.22

Chromosome location (bp)

35433347 - 35454746

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000125965 (version 78.38)

Entrez gene

8200

UniProt

P43026 (UniProt - Evidence at protein level)

neXtProt

NX_P43026

Antibodypedia

GDF5 antibodies
 

PROTEIN VIEW

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GDF5-001
 
GDF5-002
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GDF5-001 ENSP00000363492
ENST00000374372
P43026
Show all »
Show » Show » 501 55.4 Yes 0
GDF5-002 ENSP00000363489
ENST00000374369
P43026
Show all »
Show » Show » 501 55.4 Yes 0