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Gdf5
Gene Detail
Symbol

Name
ID
Gdf5
growth differentiation factor 5
MGI:95688
Synonyms
bp, brp, cartilage-derived morphogenetic protein-1, CDMP-1
Feature Type
protein coding gene
Genetic Map
Chromosome 2
77.26 cM
Detailed Genetic Map ± 1 cM


Mapping data(16)
Sequence Map
Chr2:155941023-155945367 bp, - strand
From VEGA annotation of GRCm38

  4345 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:468  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: GDF5
Protein SuperFamily: bone morphogenetic protein
Gene Tree: Gdf5

Human
homologs
GDF5, growth differentiation factor 5
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 8200
neXtProt AC: NX_P43026

Human Synonyms: BDA1C, BMP14, BMP-14, CDMP1, LAP4, LAP-4, OS5, SYM1B, SYNS2

Human Chr (Location): 20q11.2; chr20:35433347-35441387 (-)  GRCh38.p2

Disease Associations: (9) Diseases Associated with Human GDF5

Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Chemically induced (ENU)(2) Gene trapped(1) Spontaneous(7) Targeted(2)
Incidental mutations (data from APF )
 
Homozygotes for null mutations exhibit slightly shortened long bones of the limbs, and drastically shortened bones of the feet, with some complete or partial fusions.
 
Human Diseases Modeled in Mice Using Gdf5 (8)    Mutations Annotated to Human Diseases (2)    Phenotype Images(1)
Interactions
Gdf5 interacts with 82 markers (Mir1a-1, Mir27b, Mir93, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (41 annotations)
Process activation of mitophagy in response to mitochondrial depolarization, BMP signaling pathway, ...
Component extracellular region, extracellular space, ...
Function BMP binding, cytokine activity, ...
External Resources: FuncBase
Expression
Literature Summary: (98 records)
Data Summary: Results (208)    Tissues (127)    Images (85)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 202
RT-PCR 6
cDNA source data(12)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA GDF5 ZFIN gdf5    NEW 
Molecular
reagents
All nucleic(29) Genomic(1) cDNA(13) Primer pair(4) Other(11)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000015989 (Evidence)
Ensembl Gene Model ENSMUSG00000038259 (Evidence)
Entrez Gene 14563 (Evidence)
UniGene 4744
DFCI TC1594980, TC1611368, TC1658451, TC1668315
DoTS DT.97410795
NIA Mouse Gene Index U023546, U369692
Consensus CDS Project CCDS16958.1
International Mouse Phenotyping Consortium Status Gdf5
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015989 VEGA Gene Model | MGI Sequence Detail 4345 C57BL/6J ±  kb
transcript OTTMUST00000038081 VEGA | MGI Sequence Detail 2320 Not Applicable 
polypeptide OTTMUSP00000017076 VEGA | MGI Sequence Detail 495 Not Applicable 

For the selected sequences
All sequences(25) RefSeq(2) UniProt(3)
Polymorphisms
All PCR and RFLP(3) : PCR(1) RFLP(2) SNPs within 2kb(59 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002405 Inhibin, alpha subunit
InterPro IPR017948 Transforming growth factor beta, conserved site
InterPro IPR001839 Transforming growth factor-beta, C-terminal
InterPro IPR001111 Transforming growth factor-beta, N-terminal
InterPro IPR015615 Transforming growth factor-beta-related
Protein Ontology PR:000000281 growth/differentiation factor 5
References
(Earliest) J:19596 Landauer W, Brachypodism - A recessive mutation of house-mice. J Hered. 1952;43:293-8
(Latest) J:221660 Eyal S, et al., On the development of the patella. Development. 2015 May 15;142(10):1831-9
All references(170)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-10041, MGD-MRK-1609, MGD-MRK-1633, MGI:88193

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory