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

Summary

Official Symbol: Gdf7provided by MGI
Official Full Name: growth differentiation factor 7provided by MGI
Primary source: MGI:MGI:95690
See related: Ensembl:ENSMUSG00000037660 AllianceGenome:MGI:95690
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: human all
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Genomic context

Location:: 12 A1.1; 12 3.85 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (8347918..8351954, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (8297918..8301954, complement)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

compensation by Gdf-5 may be at least in part responsible for the absence of a strong phenotype in GDF-7 deficient mice
Title: Effect of GDF-7 deficiency on tail tendon phenotype in mice.
Choroid plexus relationships using normal and Gdf7 (Bmp12) transgenic embryos to fate map or ablate dorsal midline cells.
Title: Direct and indirect roles of CNS dorsal midline cells in choroid plexus epithelia formation.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Gdf7 (e-PCR), detects polymorphism
- UniSTS:496660

Gdf7 (e-PCR), detects polymorphism
- UniSTS:474711

PMC317230P1 (e-PCR)
- UniSTS:273083

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cytokine activity	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within BMP signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in BMP signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in activin receptor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within axon guidance	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within branching morphogenesis of an epithelial tube	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell fate commitment	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within epithelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within forebrain morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gland morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within midbrain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within morphogenesis of an epithelial fold	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural tube development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of SMAD protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of neuron differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of tendon cell differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within reproductive structure development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within roof plate formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spinal cord association neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: growth/differentiation factor 7

Names: GDF-7

NCBI Reference Sequences (RefSeq)

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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)

NM_001312876.1 → NP_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, Q7TNX4, Q99MY1

Related

ENSMUSP00000038301.5, ENSMUST00000037313.6

Conserved Domains (2) summary

smart00204
Location:363 → 461

TGFB; Transforming growth factor-beta (TGF-beta) family

pfam00688
Location:87 → 232

TGFb_propeptide; TGF-beta propeptide
NM_013527.1 → NP_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

Consensus CDS

CCDS88308.1

UniProtKB/Swiss-Prot

P43029

Related

ENSMUSP00000151234.2, ENSMUST00000220073.2

Conserved Domains (2) summary

smart00204
Location:355 → 453

TGFB; Transforming growth factor-beta (TGF-beta) family

pfam00688
Location:87 → 224

TGFb_propeptide; TGF-beta propeptide