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

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; 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

Location:: 20q11.22

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (35433347..35454749, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (37154208..37175640, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (34021145..34042571, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Influence of Different Evolutive Forces on GDF5 Gene Variability.
Title: Influence of Different Evolutive Forces on GDF5 Gene Variability.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
A novel common variant in DCST2 is associated with length in early life and height in adulthood. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies 20 loci that influence adult height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of ten loci associated with height highlights new biological pathways in human growth. EBI GWAS Catalog EBI GWAS CatalogPubMed
Many sequence variants affecting diversity of adult human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:483861

GDF5_1655 (e-PCR)
- UniSTS:277276

REN57710 (e-PCR)
- UniSTS:382510

REN57711 (e-PCR)
- UniSTS:382511

REN57712 (e-PCR)
- UniSTS:382512

REN57713 (e-PCR)
- UniSTS:382513

REN57714 (e-PCR)
- UniSTS:382514

REN57715 (e-PCR)
- UniSTS:382515

REN57716 (e-PCR)
- UniSTS:382516

RH64109 (e-PCR)
- UniSTS:36405

REN57717 (e-PCR)
- UniSTS:382517

REN57718 (e-PCR)
- UniSTS:382518

REN57719 (e-PCR)
- UniSTS:382519

REN57720 (e-PCR)
- UniSTS:382520

REN57721 (e-PCR)
- UniSTS:382521

REN57722 (e-PCR)
- UniSTS:382522

REN57723 (e-PCR)
- UniSTS:382523

REN57724 (e-PCR)
- UniSTS:382524

REN57725 (e-PCR)
- UniSTS:382525

REN57726 (e-PCR)
- UniSTS:382526

REN57727 (e-PCR)
- UniSTS:382527

REN57728 (e-PCR)
- UniSTS:382528

REN57729 (e-PCR)
- UniSTS:382529

REN57730 (e-PCR)
- UniSTS:382530

REN57731 (e-PCR)
- UniSTS:382531

ECD02103 (e-PCR)
- UniSTS:283204

REN57732 (e-PCR)
- UniSTS:382532

REN57733 (e-PCR)
- UniSTS:382533

REN57734 (e-PCR)
- UniSTS:382534

REN57735 (e-PCR)
- UniSTS:382535

REN57736 (e-PCR)
- UniSTS:382536

REN57737 (e-PCR)
- UniSTS:382537

REN57738 (e-PCR)
- UniSTS:382538

REN57739 (e-PCR)
- UniSTS:382539

REN57740 (e-PCR)
- UniSTS:382540

ECD19886 (e-PCR)
- UniSTS:300890

ECD01372 (e-PCR)
- UniSTS:282478

ECD02406 (e-PCR)
- UniSTS:283504

ECD17120 (e-PCR)
- UniSTS:298133

ECD21539 (e-PCR)
- UniSTS:302534

WI-9365 (e-PCR)
- UniSTS:21718

ECD19532 (e-PCR)
- UniSTS:300537

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 SMAD protein signal transduction	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

NG_008076.3 RefSeqGene

Range

21519..26400

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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