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

Gene ID: 8200, updated on 27-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
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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
  • 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
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Acromesomelic dysplasia 2C, Hunter-Thompson type
MedGen: C2930970 OMIM: 201250 GeneReviews: Not available
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Brachydactyly type A1C
MedGen: C3554446 OMIM: 615072 GeneReviews: Not available
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Brachydactyly type C
MedGen: C1862103 OMIM: 113100 GeneReviews: Not available
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Grebe syndrome
MedGen: C0265260 OMIM: 200700 GeneReviews: Not available
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Multiple synostoses syndrome 2
MedGen: C1832708 OMIM: 610017 GeneReviews: Not available
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Osteoarthritis susceptibility 5
MedGen: C4759728 OMIM: 612400 GeneReviews: Not available
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Symphalangism, proximal, 1B
MedGen: C3809104 OMIM: 615298 GeneReviews: Not available
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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)

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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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_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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