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Gdf5 growth differentiation factor 5 [ Mus musculus (house mouse) ]

Gene ID: 14563, updated on 8-Dec-2018

Summary

Official Symbol
Gdf5provided by MGI
Official Full Name
growth differentiation factor 5provided by MGI
Primary source
MGI:MGI:95688
See related
Ensembl:ENSMUSG00000038259
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
bp; brp; BMP-14; Cdmp-1
Summary
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates the development of numerous tissue and cell types, including cartilage, joints, brown fat, teeth, and the growth of neuronal axons and dendrites. Mice with a mutation in this gene exhibit enhanced tooth enamel formation. [provided by RefSeq, Aug 2016]
Expression
Biased expression in limb E14.5 (RPKM 16.4) and subcutaneous fat pad adult (RPKM 1.2) See more
Orthologs

Genomic context

See Gdf5 in Genome Data Viewer
Location:
2 H1; 2 77.26 cM
Exon count:
2
Annotation release Status Assembly Chr Location
106 current GRCm38.p4 (GCF_000001635.24) 2 NC_000068.7 (155941023..155945364, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 2 NC_000068.6 (155766759..155771100, complement)

Chromosome 2 - NC_000068.7Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 83, member C Neighboring gene ubiquinol-cytochrome c reductase complex assembly factor 1 Neighboring gene centrosomal protein 250 Neighboring gene uncharacterized LOC108168808 Neighboring gene RIKEN cDNA 6430550D23 gene

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
brachypod Japan
GeneReviews: Not available

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
BMP binding ISO
Inferred from Sequence Orthology
more info
 
cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
identical protein binding ISO
Inferred from Sequence Orthology
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor binding ISO
Inferred from Sequence Orthology
more info
 
transforming growth factor beta receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SMAD protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SMAD protein signal transduction ISO
Inferred from Sequence Orthology
more info
 
cartilage development IEA
Inferred from Electronic Annotation
more info
 
cell development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chondroblast differentiation ISO
Inferred from Sequence Orthology
more info
 
chondrocyte differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
embryonic limb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
forelimb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
hindlimb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of chondrocyte differentiation ISO
Inferred from Sequence Orthology
more info
 
negative regulation of epithelial cell proliferation ISO
Inferred from Sequence Orthology
more info
 
negative regulation of mesenchymal cell apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of neuron apoptotic process ISO
Inferred from Sequence Orthology
more info
 
positive regulation of BMP signaling pathway ISO
Inferred from Sequence Orthology
more info
 
positive regulation of chondrocyte differentiation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of chondrocyte differentiation ISO
Inferred from Sequence Orthology
more info
 
positive regulation of neuron differentiation ISO
Inferred from Sequence Orthology
more info
 
positive regulation of pathway-restricted SMAD protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of SMAD protein signal transduction ISO
Inferred from Sequence Orthology
more info
 
regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of multicellular organism growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
transmembrane receptor protein serine/threonine kinase signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
extracellular region IEA
Inferred from Electronic Annotation
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
growth/differentiation factor 5
Names
bone morphogenetic protein 14
cartilage-derived morphogenetic protein-1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_008109.3NP_032135.2  growth/differentiation factor 5 preproprotein

    See identical proteins and their annotated locations for NP_032135.2

    Status: REVIEWED

    Source sequence(s)
    AK041168, AL845445, CJ054912
    Consensus CDS
    CCDS16958.1
    UniProtKB/Swiss-Prot
    P43027
    UniProtKB/TrEMBL
    Q8BRW9
    Related
    ENSMUSP00000048079.2, ENSMUST00000040162.2
    Conserved Domains (2) summary
    smart00204
    Location:394495
    TGFB; Transforming growth factor-beta (TGF-beta) family
    pfam00688
    Location:139338
    TGFb_propeptide; TGF-beta propeptide

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm38.p4 C57BL/6J

Genomic

  1. NC_000068.7 Reference GRCm38.p4 C57BL/6J

    Range
    155941023..155945364 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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