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

Mammalian homology

human; cattle; chimpanzee; dog, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Gdf5 ± 2 cM)

Protein SuperFamily: bone morphogenetic protein
Gene Tree: Gdf5

Human ortholog

GDF5 growth differentiation factor 5 NCBI Gene ID 8200
Human Synonyms: BDA1C, BMP14, CDMP1, LAP4, OS5, SYNS2
Human Chr20:34021149-34026027 bp, - strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human GDF5 (8)

Alleles and phenotypes

All alleles(9) : Gene trapped(1) Spontaneous(6) Chemically induced(2)
 

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 Using Mouse Gdf5 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(1)

Gene Ontology (GO) classifications

All GO classifications: (18 annotations)

Process	cartilage development, embryonic limb morphogenesis, ...
Component	extracellular region, extracellular space
Function	cytokine activity, growth factor activity, ...

External Resources: FuncBase

Expression

Literature Summary: (84 records)
Data Summary: Results (156)    Tissues (97)    Images (58)
Theiler Stages: 17, 19, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
RNA in situ	154
RT-PCR	2

cDNA source data(12)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(23) Genomic(1) cDNA(13) Primer pair(3) Other(6)
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 Knockout Project Status	Gdf5

Sequences

Length	Strain/Species
genomic	OTTMUSG00000015989	VEGA Gene Model | MGI Sequence Detail	4345	C57BL/6J
transcript	OTTMUST00000038081	VEGA | MGI Sequence Detail	2320	Not Applicable
polypeptide	OTTMUSP00000017076	VEGA | MGI Sequence Detail	495	Not Applicable

All sequences(25) RefSeq(2) UniProt(3)

Polymorphisms

All PCR and RFLP(3) : PCR(1) RFLP(2) SNPs(32 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:187998 Shung CY, et al., Disruption of a Sox9-beta-catenin circuit by mutant Fgfr3 in thanatophoric dysplasia type II. Hum Mol Genet. 2012 Nov 1;21(21):4628-44
All references(149)

Other accession IDs

MGD-MRK-10041, MGD-MRK-1609, MGD-MRK-1633, MGI:88193