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    GDF5 growth differentiation factor 5 [ Homo sapiens (human) ]

    Gene ID: 8200, updated on 16-Sep-2018

    Summary

    Official Symbol
    GDF5provided by HGNC
    Official Full Name
    growth differentiation factor 5provided by HGNC
    Primary source
    HGNC:HGNC:4220
    See related
    Ensembl:ENSG00000125965 MIM:601146; Vega:OTTHUMG00000032341
    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
    OS5; LAP4; BDA1C; BMP14; CDMP1; LAP-4; SYM1B; SYNS2; BMP-14
    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 the development of numerous tissue and cell types, including cartilage, joints, brown fat, teeth, and the growth of neuronal axons and dendrites. Mutations in this gene are associated with acromesomelic dysplasia, brachydactyly, chondrodysplasia, multiple synostoses syndrome, proximal symphalangism, and susceptibility to osteoarthritis. [provided by RefSeq, Aug 2016]
    Expression
    Biased expression in salivary gland (RPKM 2.0), fat (RPKM 0.7) and 7 other tissues See more
    Orthologs

    Genomic context

    See GDF5 in Genome Data Viewer
    Location:
    20q11.22
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (35433347..35454746, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (34021149..34026027, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene FAM83C antisense RNA 1 Neighboring gene family with sequence similarity 83 member C Neighboring gene ubiquinol-cytochrome c reductase complex assembly factor 1 Neighboring gene GDF5 promoter region Neighboring gene growth differentiation factor 5 opposite strand Neighboring gene microRNA 1289-1 Neighboring gene centrosomal protein 250 Neighboring gene uncharacterized LOC102725201 Neighboring gene chromosome 20 open reading frame 173

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Acromesomelic dysplasia Hunter Thompson type
    MedGen: C2930970 OMIM: 201250 GeneReviews: Not available
    Compare labs
    Brachydactyly, type a1, c
    MedGen: C3554446 OMIM: 615072 GeneReviews: Not available
    Compare labs
    Fibular hypoplasia and complex brachydactyly
    MedGen: C1856738 OMIM: 228900 GeneReviews: Not available
    Compare labs
    Grebe syndrome
    MedGen: C0265260 OMIM: 200700 GeneReviews: Not available
    Compare labs
    Multiple synostoses syndrome 2
    MedGen: C1832708 OMIM: 610017 GeneReviews: Not available
    Compare labs
    Osteoarthritis of hip
    MedGen: C0029410 OMIM: 612400 GeneReviews: Not available
    not available
    Symphalangism, proximal, 1b
    MedGen: C3809104 OMIM: 615298 GeneReviews: Not available
    Compare labs
    Type A2 brachydactyly
    MedGen: C1832702 OMIM: 112600 GeneReviews: Not available
    Compare labs
    Type C brachydactyly
    MedGen: C1862103 OMIM: 113100 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-04-26)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-26)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
    NHGRI GWA Catalog
    A novel common variant in DCST2 is associated with length in early life and height in adulthood.
    NHGRI GWA Catalog
    Genome-wide association analysis identifies 20 loci that influence adult height.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    NHGRI GWA Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    NHGRI GWA Catalog
    Identification of ten loci associated with height highlights new biological pathways in human growth.
    NHGRI GWA Catalog
    Many sequence variants affecting diversity of adult human height.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • BMP signaling, organism-specific biosystem (from KEGG)
      BMP signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
    • BMP signaling, conserved biosystem (from KEGG)
      BMP signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
    • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Differentiation Pathway, organism-specific biosystem (from WikiPathways)
      Differentiation Pathway, organism-specific biosystemThis pathway provides an overview of the directed differentiation molecules used to induce early and derivative cell lineages from human pluripotent stem cells. The initial version of this pathway is...
    • Elastic fibre formation, organism-specific biosystem (from REACTOME)
      Elastic fibre formation, organism-specific biosystemElastic fibres (EF) are a major structural constituent of dynamic connective tissues such as large arteries and lung parenchyma, where they provide essential properties of elastic recoil and resilien...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
    • Hippo signaling pathway, organism-specific biosystem (from KEGG)
      Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
    • Hippo signaling pathway, conserved biosystem (from KEGG)
      Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
    • Molecules associated with elastic fibres, organism-specific biosystem (from REACTOME)
      Molecules associated with elastic fibres, organism-specific biosystemProteins found associated with microfibrils include vitronectin (Dahlback et al. 1990), latent transforming growth factor beta-binding proteins (Kielty et al. 2002, Munger & Sheppard 2011), emilin (B...
    • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
      TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • TGF-beta signaling pathway, conserved biosystem (from KEGG)
      TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    BMP binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    cytokine activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    growth factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transforming growth factor beta receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    SMAD protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    SMAD protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell-cell signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    chondroblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chondrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic limb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    forelimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    hindlimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of chondrocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of epithelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of mesenchymal cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    ossification involved in bone remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of chondrocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of pathway-restricted SMAD protein phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of MAPK cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of SMAD protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of signaling receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    transforming growth factor beta receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    growth/differentiation factor 5
    Names
    LPS-associated protein 4
    bone morphogenetic protein 14
    cartilage-derived morphogenetic protein-1
    lipopolysaccharide-associated protein 4
    radotermin

    NCBI Reference Sequences (RefSeq)

    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_008076.3 RefSeqGene

      Range
      21557..26400
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000557.4NP_000548.2  growth/differentiation factor 5 preproprotein

      See identical proteins and their annotated locations for NP_000548.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AB593125, BU625224, FO393401, U13660
      Consensus CDS
      CCDS13254.1
      UniProtKB/Swiss-Prot
      P43026
      UniProtKB/TrEMBL
      F1T0J1
      Related
      ENSP00000363489.3, OTTHUMP00000061644, ENST00000374369.7, OTTHUMT00000125986
      Conserved Domains (2) summary
      smart00204
      Location:400501
      TGFB; Transforming growth factor-beta (TGF-beta) family
      pfam00688
      Location:145344
      TGFb_propeptide; TGF-beta propeptide
    2. NM_001319138.1NP_001306067.1  growth/differentiation factor 5 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AB593125, BC032495, BU625224, FO393401
      Consensus CDS
      CCDS13254.1
      UniProtKB/Swiss-Prot
      P43026
      UniProtKB/TrEMBL
      F1T0J1
      Related
      ENSP00000363492.1, OTTHUMP00000030755, ENST00000374372.1, OTTHUMT00000078875
      Conserved Domains (2) summary
      smart00204
      Location:400501
      TGFB; Transforming growth factor-beta (TGF-beta) family
      pfam00688
      Location:145344
      TGFb_propeptide; TGF-beta propeptide

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

      Range
      35433347..35454746 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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