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GDF7 growth differentiation factor 7 [ Homo sapiens (human) ]

Gene ID: 151449, updated on 5-Mar-2024

Summary

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Official Symbol
GDF7provided by HGNC
Official Full Name
growth differentiation factor 7provided by HGNC
Primary source
HGNC:HGNC:4222
See related
Ensembl:ENSG00000143869 MIM:604651; AllianceGenome:HGNC:4222
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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. A mutation in this gene may be associated with increased risk for Barrett's esophagus and esophageal adenocarcinoma. [provided by RefSeq, Sep 2016]
Expression
Biased expression in kidney (RPKM 1.0), endometrium (RPKM 0.6) and 7 other tissues See more
Orthologs
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Genomic context

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Location:
2p24.1
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (20667144..20679243)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (20700448..20712559)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (20866904..20879003)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene HCLS1 binding protein 3 Neighboring gene uncharacterized LOC124907740 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15397 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:20840103-20840604 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15399 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15400 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:20850539-20851276 Neighboring gene uncharacterized LOC105373466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:20865647-20866477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11215 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11214 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11213 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15401 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:20869955-20870900 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15402 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15403 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15404 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15405 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:20893576-20893760 Neighboring gene lipid droplet associated hydrolase Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:21021737-21022562 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15407 Neighboring gene long intergenic non-protein coding RNA 2850

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Bmp-12 activates tenogenic pathway in human adipose stem cells and affects their immunomodulatory and secretory properties. Zarychta-Wiśniewska W, et al. BMC Cell Biol, 2017 Feb 18. PMID 28214472, Free PMC Article
  2. Effect of adipose-derived stromal cells and BMP12 on intrasynovial tendon repair: A biomechanical, biochemical, and proteomics study. Gelberman RH, et al. J Orthop Res, 2016 Apr. PMID 26445383, Free PMC Article
  3. Local rhBMP-12 on an Absorbable Collagen Sponge as an Adjuvant Therapy for Rotator Cuff Repair - A Phase 1, Randomized, Standard of Care Control, Multicenter Study: Safety and Feasibility. Greiner S, et al. Am J Sports Med, 2015 Aug. PMID 26033972
  4. BMP12 induces tenogenic differentiation of adipose-derived stromal cells. Shen H, et al. PLoS One, 2013. PMID 24155967, Free PMC Article
  5. Effects of cartilage-derived morphogenetic protein-3 on the expression of chondrogenic and osteoblastic markers in the pluripotent mesenchymal C3H10T1/2 cell line. Yeh LC, et al. Growth Factors, 2010 Apr. PMID 20102312

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Growth differentiation factor 7 autocrine signaling promotes hepatic progenitor cell expansion in liver fibrosis.
    Title: Growth differentiation factor 7 autocrine signaling promotes hepatic progenitor cell expansion in liver fibrosis.
  2. TET-dependent GDF7 hypomethylation impairs aqueous humor outflow and serves as a potential therapeutic target in glaucoma.
    Title: TET-dependent GDF7 hypomethylation impairs aqueous humor outflow and serves as a potential therapeutic target in glaucoma.
  3. Secretome screening reveals immunomodulating functions of IFNalpha-7, PAP and GDF-7 on regulatory T-cells.
    Title: Secretome screening reveals immunomodulating functions of IFNα-7, PAP and GDF-7 on regulatory T-cells.
  4. BMP-12 activates tenogenic pathway in human adipose stem cells.
    Title: Bmp-12 activates tenogenic pathway in human adipose stem cells and affects their immunomodulatory and secretory properties.
  5. The Barrett-associated variants at GDF7 and TBX5 also increase esophageal adenocarcinoma risk.
    Title: The Barrett-associated variants at GDF7 and TBX5 also increase esophageal adenocarcinoma risk.
  6. closest protein-coding genes were respectively GDF7 (rs3072), which encodes a ligand in the bone morphogenetic protein pathway, and TBX5 (rs2701108), which encodes a transcription factor that regulates esophageal and cardiac development
    Title: Polymorphisms near TBX5 and GDF7 are associated with increased risk for Barrett's esophagus.
  7. BMP12 induces tenogenic differentiation of adipose-derived stromal cells via the Smad1/5/8 pathway.
    Title: BMP12 induces tenogenic differentiation of adipose-derived stromal cells.
  8. studies show that even though tenogenic (BMP 12 and BMP 13) and osteogenic (BMP2) BMPs bind the same receptors with high affinity they signal much differently and result in differential activation of osteogenic and tenogenic markers
    Title: Divergent activities of osteogenic BMP2, and tenogenic BMP12 and BMP13 independent of receptor binding affinities.
  9. induces ligamentogenic differentiation in mesenchymal progenitors
    Title: BMP12 and BMP13 gene transfer induce ligamentogenic differentiation in mesenchymal progenitor and anterior cruciate ligament cells.
  10. stimulates expression of both chondrogenic and osteoblstic markers in pluripotent mesenchymal C3H10T1/2 cells.
    Title: Effects of cartilage-derived morphogenetic protein-3 on the expression of chondrogenic and osteoblastic markers in the pluripotent mesenchymal C3H10T1/2 cell line.
Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association of lipid-lowering response to statins in combined study populations.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

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 IEA
Inferred from Electronic Annotation
more info
  
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
  
involved_in BMP signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in activin receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in axon guidance IEA
Inferred from Electronic Annotation
more info
  
involved_in branching morphogenesis of an epithelial tube IEA
Inferred from Electronic Annotation
more info
  
involved_in cell fate commitment IEA
Inferred from Electronic Annotation
more info
  
involved_in epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in forebrain morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in gland morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in midbrain development IEA
Inferred from Electronic Annotation
more info
  
involved_in morphogenesis of an epithelial fold IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of SMAD protein signal transduction IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of tendon cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in reproductive structure development IEA
Inferred from Electronic Annotation
more info
  
involved_in roof plate formation IEA
Inferred from Electronic Annotation
more info
  
involved_in spinal cord association neuron differentiation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
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)

  1. NM_182828.4 → NP_878248.2  growth/differentiation factor 7 preproprotein

    See identical proteins and their annotated locations for NP_878248.2

    Status: REVIEWED

    Source sequence(s)
    AB158468, AC012065, AF522369, BQ182131
    Consensus CDS
    CCDS1701.1
    UniProtKB/Swiss-Prot
    Q7Z4P5
    UniProtKB/TrEMBL
    Q75RY1
    Related
    ENSP00000272224.3, ENST00000272224.5
    Conserved Domains (2) summary
    smart00204
    Location:352 → 450
    TGFB; Transforming growth factor-beta (TGF-beta) family
    pfam00688
    Location:91 → 217
    TGFb_propeptide; TGF-beta propeptide

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    20667144..20679243
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047443522.1 → XP_047299478.1  growth/differentiation factor 7 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    20700448..20712559
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340802.1 → XP_054196777.1  growth/differentiation factor 7 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7Z4P5.2 GenPept UniProtKB/Swiss-Prot:Q7Z4P5

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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