Format

Send to:

Choose Destination

Gdf7 growth differentiation factor 7 [ Mus musculus (house mouse) ]

Gene ID: 238057, updated on 23-Apr-2019

Summary

Official Symbol
Gdf7provided by MGI
Official Full Name
growth differentiation factor 7provided by MGI
Primary source
MGI:MGI:95690
See related
Ensembl:ENSMUSG00000037660
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
BMP12
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 may play a role in the differentiation of tendon cells and spinal cord interneurons. Mice lacking a functional copy of this gene exhibit absence of some spinal dopaminergic neurons and brain defects, male sterility, and premature death. [provided by RefSeq, Sep 2016]
Expression
Biased expression in subcutaneous fat pad adult (RPKM 19.2), ovary adult (RPKM 11.1) and 2 other tissues See more
Orthologs

Genomic context

See Gdf7 in Genome Data Viewer
Location:
12; 12 A1.1
Exon count:
2
Annotation release Status Assembly Chr Location
106 current GRCm38.p4 (GCF_000001635.24) 12 NC_000078.6 (8297918..8301954, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 12 NC_000078.5 (8304724..8308760, complement)

Chromosome 12 - NC_000078.6Genomic Context describing neighboring genes Neighboring gene apolipoprotein B Neighboring gene predicted gene, 33037 Neighboring gene lipid droplet associated hydrolase Neighboring gene HCLS1 binding protein 3 Neighboring gene predicted gene, 33134

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

Variation

Alleles

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

Pathways from BioSystems

  • Axon guidance, organism-specific biosystem (from KEGG)
    Axon guidance, organism-specific biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
  • Axon guidance, conserved biosystem (from KEGG)
    Axon guidance, conserved biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
  • Hippo signaling pathway, organism-specific biosystem (from KEGG)
    Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Hippo signaling pathway, conserved biosystem (from KEGG)
    Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
    TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
  • TGF-beta signaling pathway, conserved biosystem (from KEGG)
    TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
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 
BMP signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
BMP signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
BMP signaling pathway ISO
Inferred from Sequence Orthology
more info
 
SMAD protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
activin receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
 
axon guidance IDA
Inferred from Direct Assay
more info
PubMed 
branching morphogenesis of an epithelial tube IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell fate commitment IDA
Inferred from Direct Assay
more info
PubMed 
epithelial cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
forebrain morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
gland morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
midbrain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
morphogenesis of an epithelial fold IMP
Inferred from Mutant Phenotype
more info
PubMed 
neural tube development IMP
Inferred from Mutant Phenotype
more info
PubMed 
pathway-restricted SMAD protein phosphorylation ISO
Inferred from Sequence Orthology
more info
 
positive regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of neuron differentiation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of pathway-restricted SMAD protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of pathway-restricted SMAD protein phosphorylation ISO
Inferred from Sequence Orthology
more info
 
positive regulation of tendon cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated ISO
Inferred from Sequence Orthology
more info
 
regulation of MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
reproductive structure development IMP
Inferred from Mutant Phenotype
more info
PubMed 
roof plate formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
spinal cord association neuron differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
extracellular region IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
growth/differentiation factor 7
Names
GDF-7

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_001312876.1NP_001299805.1  growth/differentiation factor 7 isoform 1 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC122860
    Consensus CDS
    CCDS83954.1
    UniProtKB/Swiss-Prot
    P43029
    Related
    ENSMUSP00000038301.4, ENSMUST00000037313.5
    Conserved Domains (2) summary
    smart00204
    Location:363461
    TGFB; Transforming growth factor-beta (TGF-beta) family
    pfam00688
    Location:87232
    TGFb_propeptide; TGF-beta propeptide
  2. NM_013527.1NP_038555.1  growth/differentiation factor 7 isoform 2 preproprotein

    See identical proteins and their annotated locations for NP_038555.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AC122860
    UniProtKB/Swiss-Prot
    P43029
    Related
    ENSMUSP00000151234.1, ENSMUST00000220073.1
    Conserved Domains (2) summary
    smart00204
    Location:355453
    TGFB; Transforming growth factor-beta (TGF-beta) family
    pfam00688
    Location:87224
    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_000078.6 Reference GRCm38.p4 C57BL/6J

    Range
    8297918..8301954 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center