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    GDF2 growth differentiation factor 2 [ Homo sapiens (human) ]

    Gene ID: 2658, updated on 19-Jul-2021

    Summary

    Official Symbol
    GDF2provided by HGNC
    Official Full Name
    growth differentiation factor 2provided by HGNC
    Primary source
    HGNC:HGNC:4217
    See related
    Ensembl:ENSG00000263761 MIM:605120
    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
    BMP9; HHT5; BMP-9
    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 regulates cartilage and bone development, angiogenesis and differentiation of cholinergic central nervous system neurons. Mutations in this gene are associated with hereditary hemorrhagic telangiectasia. [provided by RefSeq, Jul 2016]
    Expression
    Restricted expression toward liver (RPKM 6.7) See more
    Orthologs
    NEW
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    Genomic context

    See GDF2 in Genome Data Viewer
    Location:
    10q11.22
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (47322454..47327588)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (48411774..48416908, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378291 Neighboring gene uncharacterized LOC101929216 Neighboring gene growth differentiation factor 10 Neighboring gene retinol binding protein 3 Neighboring gene zinc finger protein 488

    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

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2016-10-13)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2016-10-13)

    ClinGen Genome Curation Page

    Pathways from PubChem

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    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 angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in blood vessel morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in branching involved in blood vessel morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cartilage development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular iron ion homeostasis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to BMP stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of DNA biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of DNA replication TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of angiogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of blood vessel endothelial cell migration TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of cell growth IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of endothelial cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of endothelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ossification TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in osteoblast differentiation 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 BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of angiogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of endothelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of endothelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of interleukin-8 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in vasculogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    growth/differentiation factor 2
    Names
    bone morphogenetic protein 9

    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.

    Genomic

    1. NG_033916.1 RefSeqGene

      Range
      4965..10099
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_016204.4NP_057288.1  growth/differentiation factor 2 preproprotein

      See identical proteins and their annotated locations for NP_057288.1

      Status: REVIEWED

      Source sequence(s)
      AF188285, AK314956, AL731561
      Consensus CDS
      CCDS73118.1
      UniProtKB/Swiss-Prot
      Q9UK05
      UniProtKB/TrEMBL
      B2RC63
      Related
      ENSP00000463051.1, ENST00000581492.3
      Conserved Domains (2) summary
      pfam00019
      Location:326428
      TGF_beta; Transforming growth factor beta like domain
      pfam00688
      Location:76257
      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_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      47322454..47327588
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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