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

    Gene ID: 151449, updated on 28-Oct-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
    mouse all
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    Genomic context

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    See GDF7 in Genome Data Viewer
    Location:
    2p24.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (20667144..20679243)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (20700448..20712559)
    RS_2024_09 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 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. Growth differentiation factor 7 autocrine signaling promotes hepatic progenitor cell expansion in liver fibrosis. Kong D, et al. Stem Cell Res Ther, 2023 Oct 5. PMID 37798809, Free PMC Article
    2. 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
    3. 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
    4. 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
    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 (21) 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_2024_08

    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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