HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GDF5
growth differentiation factor 5
Chromosome 20 Β· 20q11.22
NCBI Gene: 8200Ensembl: ENSG00000125965.10HGNC: HGNC:4220UniProt: F1T0J1
173PubMed Papers
29Diseases
0Drugs
53Pathogenic Variants
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
identical protein bindingnegative regulation of epithelial cell proliferationpositive regulation of SMAD protein signal transductionchondroblast differentiationbrachydactyly type Cacromesomelic dysplasia 2Bmultiple synostoses syndrome 2brachydactyly type A2
✦AI Summary

GDF5 is a growth factor primarily involved in skeletal development and bone/cartilage formation. Mechanistically, GDF5 positively regulates chondrogenic differentiation through high-affinity binding to BMPR1B, activating SMAD1/5/8 phosphorylation and downstream signaling 1. It also negatively regulates chondrogenesis through interaction with noggin (NOG), providing dual control of cartilage development. Beyond skeletal biology, GDF5 prevents excessive muscle loss during aging and denervation through SMAD4-dependent pathways 2. Recent evidence demonstrates that GDF5-lineage fibroblasts, originating from the embryonic joint interzone, are critical in synovial joint homeostasis and become pathogenic in inflammatory arthritis through IL-6-Yap-Snail axis activation 34. Clinically, GDF5 variants associate with multiple skeletal dysplasias including acromesomelic dysplasia, brachydactyly, and symphalangism 5. GDF5 is a major osteoarthritis susceptibility locus identified through genome-wide association studies 67. Additionally, GDF5 polymorphisms link to age-related muscle weakness in older adults 8. Therapeutic potential exists: recombinant GDF5 administration reverses sarcopenia-associated muscle wasting, improves neuromuscular junction integrity, and induces 'rejuvenating' transcriptomic changes in aged muscle 2, suggesting clinical applications for age-related neuromuscular decline.

Sources cited
1
GDF5 interacts with BMPR1B in signal transduction pathways and protein-protein interaction networks
PMID: 32471519
2
GDF5 overexpression and recombinant GDF5 treatment improve muscle mass, force generation, neuromuscular junction morphology, and reverse age-related transcriptomic changes in aged mice
PMID: 38584513
3
GDF5-lineage synovial fibroblasts undergo pathogenic transformation in arthritis via IL-6-Yap-Snail signaling
PMID: 34844926
4
GDF5-lineage fibroblasts originate from embryonic joint interzone and are compartmentalized in synovial lining and sublining with distinct roles in joint homeostasis
PMID: 36414376
5
GDF5 is a candidate gene for developmental dysplasia of the hip associated with osteogenesis
PMID: 32244273
6
GDF5 is among the most relevant genetic associations discovered for osteoarthritis susceptibility
PMID: 24992825
7
GDF5 is one of two signals passing genome-wide significance threshold for osteoarthritis
PMID: 21709558
8
GDF5 variants associate with muscle weakness in older adults aged 60+ years
PMID: 33510174
Disease Associationsβ“˜29
brachydactyly type COpen Targets
0.77Strong
acromesomelic dysplasia 2BOpen Targets
0.77Strong
multiple synostoses syndrome 2Open Targets
0.76Strong
brachydactyly type A2Open Targets
0.76Strong
symphalangism, proximal, 1BOpen Targets
0.72Strong
brachydactyly type A1Open Targets
0.70Strong
Acromesomelic dysplasia, Grebe typeOpen Targets
0.70Strong
acromesomelic dysplasia 2AOpen Targets
0.69Moderate
Acromesomelic dysplasia, Hunter-Thomson typeOpen Targets
0.66Moderate
acromesomelic dysplasia 2C, Hunter-Thompson typeOpen Targets
0.64Moderate
osteoarthritisOpen Targets
0.60Moderate
osteoarthritis, kneeOpen Targets
0.50Moderate
brachydactylyOpen Targets
0.47Moderate
Knee painOpen Targets
0.43Moderate
joint diseaseOpen Targets
0.41Moderate
genetic disorderOpen Targets
0.41Moderate
multiple synostoses syndromeOpen Targets
0.39Weak
proximal symphalangismOpen Targets
0.39Weak
Angel-shaped phalango-epiphyseal dysplasiaOpen Targets
0.39Weak
proximal symphalangism 1AOpen Targets
0.39Weak
Acromesomelic dysplasia 2AUniProt
Acromesomelic dysplasia 2BUniProt
Acromesomelic dysplasia 2CUniProt
Brachydactyly A1, CUniProt
Brachydactyly A2UniProt
Brachydactyly CUniProt
Multiple synostoses syndrome 2UniProt
Osteoarthritis 5UniProt
Symphalangism, proximal 1BUniProt
Pathogenic Variants53
NM_000557.5(GDF5):c.788_810dup (p.Gly271Ter)Pathogenic
not provided|9 conditions
β˜…β˜…β˜†β˜†2025β†’ Residue 271
NM_000557.5(GDF5):c.1471G>A (p.Glu491Lys)Pathogenic
Symphalangism, proximal, 1B|GDF5-related disorder|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 491
NM_000557.5(GDF5):c.891G>A (p.Trp297Ter)Pathogenic
not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 297
NM_000557.5(GDF5):c.1313G>T (p.Arg438Leu)Pathogenic
Symphalangism, proximal, 1B|Multiple synostoses syndrome 2|Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 438
NM_000557.5(GDF5):c.158del (p.Leu53fs)Pathogenic
not provided|Type A2 brachydactyly
β˜…β˜…β˜†β˜†2025β†’ Residue 53
NM_000557.5(GDF5):c.466C>T (p.Arg156Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 156
NM_000557.5(GDF5):c.628C>T (p.Gln210Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 210
NM_000557.5(GDF5):c.157del (p.Leu53fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 53
NM_000557.5(GDF5):c.205dup (p.Ala69fs)Pathogenic
Brachydactyly type C|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 69
NM_000557.5(GDF5):c.1139G>A (p.Arg380Gln)Pathogenic
Type A2 brachydactyly|not provided|Grebe syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 380
NM_000557.5(GDF5):c.157dup (p.Leu53fs)Pathogenic
not provided|GDF5-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 53
NM_000557.5(GDF5):c.1312C>T (p.Arg438Cys)Likely pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 438
NM_000557.5(GDF5):c.1199G>A (p.Cys400Tyr)Likely pathogenic
Grebe syndrome|Brachydactyly type A1C
β˜…β˜…β˜†β˜†2024β†’ Residue 400
NM_000557.5(GDF5):c.992del (p.Arg331fs)Pathogenic
not provided|Brachydactyly type C
β˜…β˜…β˜†β˜†2024β†’ Residue 331
NM_000557.5(GDF5):c.1144del (p.Ala382fs)Pathogenic
Grebe syndrome|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 382
NM_000557.5(GDF5):c.901C>T (p.Arg301Ter)Pathogenic
Brachydactyly type C|not provided|Multiple synostoses syndrome 2
β˜…β˜…β˜†β˜†2023β†’ Residue 301
NM_000557.5(GDF5):c.1267G>T (p.Glu423Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 423
NM_000557.5(GDF5):c.874G>T (p.Glu292Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 292
NM_000557.5(GDF5):c.234_235del (p.Gly79fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 79
NM_000557.5(GDF5):c.106C>T (p.Gln36Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 36
View on ClinVar β†—
Related Genes
HSP90AA1Protein interaction100%PAEPProtein interaction100%TLR4Protein interaction100%ACVR1Protein interaction99%ACVR2BProtein interaction99%BMPR1AProtein interaction99%
Tissue Expression6 tissues
Lung
100%
Ovary
20%
Heart
20%
Brain
20%
Liver
16%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
GDF5HSP90AA1PAEPTLR4ACVR1ACVR2BBMPR1A
PROTEIN STRUCTURE
Preparing viewer…
PDB7ZJF Β· 1.30 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.71LoF Tolerant
pLIβ“˜
0.03Tolerant
Observed/Expected LoF0.47 [0.32–0.71]
RankingsWhere GDF5 stands among ~20K protein-coding genes
  • #2,546of 20,598
    Most Researched173 Β· top quartile
  • #1,274of 5,498
    Most Pathogenic Variants53 Β· top quartile
  • #5,444of 17,882
    Most Constrained (LOEUF)0.71
Genes detectedGDF5
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Targeting the IL-6-Yap-Snail signalling axis in synovial fibroblasts ameliorates inflammatory arthritis.
PMID: 34844926
Ann Rheum Dis Β· 2022
1.00
2
Eukaryotic expression, Co-IP and MS identify BMPR-1B protein-protein interaction network.
PMID: 32471519
Biol Res Β· 2020
0.90
3
Taxonomy of fibroblasts and progenitors in the synovial joint at single-cell resolution.
PMID: 36414376
Ann Rheum Dis Β· 2023
0.80
4
Association between GDF5 rs143383 genetic polymorphism and musculoskeletal degenerative diseases susceptibility: a meta-analysis.
PMID: 30217184
BMC Med Genet Β· 2018
0.72
5
Developmental Dysplasia of the Hip: A Review of Etiopathogenesis, Risk Factors, and Genetic Aspects.
PMID: 32244273
Medicina (Kaunas) Β· 2020
0.70