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

    Gene ID: 8200, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:4220
    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; DUPANS
    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
    mouse all
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    Genomic context

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    See GDF5 in Genome Data Viewer
    Location:
    20q11.22
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (35433347..35454749, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (37154208..37175640, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (34021145..34042571, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene FAM83C antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33892105-33892925 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:33893217-33894416 Neighboring gene family with sequence similarity 83 member C Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:33899341-33900264 Neighboring gene Sharpr-MPRA regulatory region 6334 Neighboring gene ubiquinol-cytochrome c reductase complex assembly factor 1 Neighboring gene Sharpr-MPRA regulatory region 14546 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17779 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33999108-33999931 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33999932-34000754 Neighboring gene MPRA-validated peak4201 silencer Neighboring gene GDF5 promoter region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12857 Neighboring gene GDF5 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17784 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12859 Neighboring gene microRNA 1289-1 Neighboring gene centrosomal protein 250 Neighboring gene CEP250 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17785 Neighboring gene chromosome 20 open reading frame 173

    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. Two single nucleotide polymorphisms in the GDF5 gene are associated with development dysplasia of the hip in Chinese female population. Zhao L, et al. Sci China Life Sci, 2013 Nov. PMID 24114442
    2. Spondylolisthesis in twins: multifactorial etiology: a case report and review of the literature. Moke L, et al. Spine (Phila Pa 1976), 2011 May 15. PMID 21270694
    3. GDF5 single-nucleotide polymorphism rs143383 is associated with lumbar disc degeneration in Northern European women. Williams FM, et al. Arthritis Rheum, 2011 Mar. PMID 21360499, Free PMC Article
    4. A genetic association study between growth differentiation factor 5 (GDF 5) polymorphism and knee osteoarthritis in Thai population. Tawonsawatruk T, et al. J Orthop Surg Res, 2011 Sep 21. PMID 21936909, Free PMC Article
    5. The GDF5 gene and anterior cruciate ligament rupture. Raleigh SM, et al. Int J Sports Med, 2013 Apr. PMID 23090674

    See all (173) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The association of growth differentiation factor 5 rs143383 gene polymorphism with osteoarthritis: a systematic review and meta-analysis.
      Title: The association of growth differentiation factor 5 rs143383 gene polymorphism with osteoarthritis: a systematic review and meta-analysis.
    2. Influence of Different Evolutive Forces on GDF5 Gene Variability.
      Title: Influence of Different Evolutive Forces on GDF5 Gene Variability.
    3. LINC00313 promotes the proliferation and inhibits the apoptosis of chondrocytes via regulating miR-525-5p/GDF5 axis.
      Title: LINC00313 promotes the proliferation and inhibits the apoptosis of chondrocytes via regulating miR-525-5p/GDF5 axis.
    4. Regulatory Mechanisms of Prg4 and Gdf5 Expression in Articular Cartilage and Functions in Osteoarthritis.
      Title: Regulatory Mechanisms of Prg4 and Gdf5 Expression in Articular Cartilage and Functions in Osteoarthritis.
    5. Long non-coding RNA SNHG5 promotes the osteogenic differentiation of bone marrow mesenchymal stem cells via the miR-212-3p/GDF5/SMAD pathway.
      Title: Long non-coding RNA SNHG5 promotes the osteogenic differentiation of bone marrow mesenchymal stem cells via the miR-212-3p/GDF5/SMAD pathway.
    6. Effect of lentivirus-mediated growth and differentiation factor-5 transfection on differentiation of rabbit nucleus pulposus mesenchymal stem cells.
      Title: Effect of lentivirus-mediated growth and differentiation factor-5 transfection on differentiation of rabbit nucleus pulposus mesenchymal stem cells.
    7. Genetic Study of IL6, GDF5 and PAPPA2 in Association with Developmental Dysplasia of the Hip.
      Title: Genetic Study of IL6, GDF5 and PAPPA2 in Association with Developmental Dysplasia of the Hip.
    8. Frequency of Growth Differentiation Factor 5 rs143383 and asporin D-repeat polymorphisms in patients with hand and knee osteoarthritis in Kurdistan province, Iran.
      Title: Frequency of Growth Differentiation Factor 5 rs143383 and asporin D-repeat polymorphisms in patients with hand and knee osteoarthritis in Kurdistan province, Iran.
    9. Association Analysis of GDF5 and Contributing Factors in Developmental Dysplasia of the Hip in Infants.
      Title: Association Analysis of GDF5 and Contributing Factors in Developmental Dysplasia of the Hip in Infants.
    10. The effect of common variants in GDF5 gene on the susceptibility to chronic postsurgical pain.
      Title: The effect of common variants in GDF5 gene on the susceptibility to chronic postsurgical pain.
    Submit: New GeneRIF Correction See all GeneRIFs (128)

    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

    Associated conditions

    Description Tests
    Acromesomelic dysplasia 2B
    MedGen: C1856738 OMIM: 228900 GeneReviews: Not available
    		Compare labs
    Acromesomelic dysplasia 2C, Hunter-Thompson type
    MedGen: C2930970 OMIM: 201250 GeneReviews: Not available
    		Compare labs
    Brachydactyly type A1C
    MedGen: C3554446 OMIM: 615072 GeneReviews: Not available
    		Compare labs
    Brachydactyly type C
    MedGen: C1862103 OMIM: 113100 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 susceptibility 5
    MedGen: C4759728 OMIM: 612400 GeneReviews: Not available
    		Compare labs
    Symphalangism, proximal, 1B
    MedGen: C3809104 OMIM: 615298 GeneReviews: Not available
    		Compare labs
    Type A2 brachydactyly
    MedGen: C1832702 OMIM: 112600 GeneReviews: Not available
    		Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-02-24)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-02-24)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

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

    Pathways from PubChem

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

    General protein information

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    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)

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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.

    Genomic

    1. NG_008076.3 RefSeqGene

      Range
      21519..26400
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000557.5 → NP_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
      E1P5Q2, P43026, Q96SB1
      UniProtKB/TrEMBL
      F1T0J1
      Related
      ENSP00000363489.3, ENST00000374369.8
      Conserved Domains (2) summary
      smart00204
      Location:400 → 501
      TGFB; Transforming growth factor-beta (TGF-beta) family
      pfam00688
      Location:145 → 344
      TGFb_propeptide; TGF-beta propeptide

    2. NM_001319138.2 → NP_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
      E1P5Q2, P43026, Q96SB1
      UniProtKB/TrEMBL
      F1T0J1
      Related
      ENSP00000363492.1, ENST00000374372.1
      Conserved Domains (2) summary
      smart00204
      Location:400 → 501
      TGFB; Transforming growth factor-beta (TGF-beta) family
      pfam00688
      Location:145 → 344
      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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      35433347..35454749 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      37154208..37175640 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P43026.4 GenPept UniProtKB/Swiss-Prot:P43026

    Gene LinkOut

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

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