Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 151449, updated on 11-Jun-2021

    Summary

    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
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GDF7 in Genome Data Viewer
    Location:
    2p24.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (20667144..20679243)
    105.20201022 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 ribosomal protein S25 pseudogene 3 Neighboring gene uncharacterized LOC105373466 Neighboring gene lipid droplet associated hydrolase Neighboring gene long intergenic non-protein coding RNA 2850

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association of lipid-lowering response to statins in combined study populations.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    involved_in BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in SMAD protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    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 pathway-restricted SMAD protein phosphorylation 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 pathway-restricted SMAD protein phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of pathway-restricted SMAD protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of tendon cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
    PubMed 

    General protein information

    Preferred Names
    growth/differentiation factor 7
    Names
    GDF-7

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_182828.4NP_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:352450
      TGFB; Transforming growth factor-beta (TGF-beta) family
      pfam00688
      Location:91217
      TGFb_propeptide; TGF-beta propeptide

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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