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

Gene ID: 8200, updated on 5-Aug-2018
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
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

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Acromesomelic dysplasia Hunter Thompson type
MedGen: C2930970 OMIM: 201250 GeneReviews: Not available
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Brachydactyly, type a1, c
MedGen: C3554446 OMIM: 615072 GeneReviews: Not available
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Fibular hypoplasia and complex brachydactyly
MedGen: C1856738 OMIM: 228900 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 of hip
MedGen: C0029410 OMIM: 612400 GeneReviews: Not available
not available
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
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
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

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
 
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

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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