Gene

gdf5

ID
ZDB-GENE-990415-39
Name
growth differentiation factor 5
Symbol
gdf5 Nomenclature History
Previous Names
  • bmp14 (1)
  • contact (1)
  • ctc (1)
  • e1gdf5
Type
protein_coding_gene
Location
Chr: 6 Mapping Details/Browsers
Description
Predicted to have cytokine activity. Predicted to be involved in BMP signaling pathway; SMAD protein signal transduction; and positive regulation of pathway-restricted SMAD protein phosphorylation. Predicted to localize to extracellular space. Human ortholog(s) of this gene implicated in Parkinson's disease; bone development disease (multiple); osteoarthritis; and proximal symphalangism. Is expressed in perichondrium; pharynx; and skeletal system. Orthologous to human GDF5 (growth differentiation factor 5).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
7 figures from 7 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With gdf5 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
acromesomelic dysplasia, Grebe type Alliance Acromesomelic dysplasia 2A 200700
acromesomelic dysplasia, Hunter-Thompson type Alliance ?Acromesomelic dysplasia 2C, Hunter-Thompson type 201250
brachydactyly type A1C Alliance Brachydactyly, type A1, C 615072
brachydactyly type A2 Alliance Brachydactyly, type A2 112600
brachydactyly type C Alliance Brachydactyly, type C 113100
fibular hypoplasia and complex brachydactyly Alliance Acromesomelic dysplasia 2B 228900
multiple synostoses syndrome Alliance Multiple synostoses syndrome 2 610017
proximal symphalangism 2 Alliance Symphalangism, proximal, 1B 615298
{Osteoarthritis-5} 612400
Associated With gdf5 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR017948 Transforming growth factor beta, conserved site
Domain IPR001111 TGF-beta, propeptide
Domain IPR001839 Transforming growth factor-beta, C-terminal
Family IPR015615 Transforming growth factor-beta-related
Homologous_superfamily IPR029034 Cystine-knot cytokine
Domain Details Per Protein
Protein Length Cystine-knot cytokine TGF-beta, propeptide Transforming growth factor beta, conserved site Transforming growth factor-beta, C-terminal Transforming growth factor-beta-related
UniProtKB:F1QK08 474
UniProtKB:O42303 257
UniProtKB:F8W3E7 269
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations