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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GDF3
growth differentiation factor 3
Chromosome 12 · 12p13.31
NCBI Gene: 9573Ensembl: ENSG00000184344.4HGNC: HGNC:4218UniProt: Q9NR23
31PubMed Papers
23Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of BMP signaling pathwayprotein kinase bindingnegative regulation of epidermal cell differentiationskeletal system developmentisolated microphthalmia 7microphthalmia, isolated, with colobomaIsolated anophthalmia - microphthalmiaKlippel-Feil syndrome 3, autosomal dominant
✦AI Summary

GDF3 (growth differentiation factor 3) is a TGF-β superfamily cytokine with critical roles in metabolic regulation and inflammatory responses. The protein functions as a signaling molecule that regulates adipose tissue homeostasis and lipid metabolism through receptor complexes including ALK5, ALK7, ACVR2A, and ACVR2B 1. GDF3 promotes lipolysis in mature adipocytes by enhancing β3-adrenergic receptor signaling and cAMP-PKA pathways 1. The protein exhibits pro-inflammatory effects, particularly during aging, where it maintains macrophage inflammatory phenotypes through autocrine GDF3-SMAD2/3 signaling 2. This mechanism involves chr12 remodeling that shifts adipose tissue macrophages toward an inflammatory state by limiting methylation-dependent chr12 compaction 2. In disease contexts, GDF3 contributes to insulin resistance and metabolic dysfunction, with PPARγ S273 phosphorylation promoting GDF3 expression and subsequent diabetogenic effects 3. The protein also serves as a biomarker for cardiac pathology, with elevated circulating GDF3 levels predicting adverse fibrotic remodeling after myocardial infarction 4. Additionally, GDF3 variants have been implicated in congenital developmental disorders, including congenital scoliosis, where certain mutations show pathogenic effects in functional assays 5.

Sources cited
1
GDF3 functions through ALK5, ALK7, ACVR2A, ACVR2B receptors and regulates lipolysis via β3-adrenergic receptor/cAMP-PKA signaling
PMID: 40360531
2
GDF3 maintains macrophage inflammatory phenotypes through autocrine SMAD2/3 signaling and chromatin remodeling during aging
PMID: 41398392
3
GDF3 contributes to insulin resistance downstream of PPARγ S273 phosphorylation
PMID: 32941798
4
Elevated circulating GDF3 levels predict adverse cardiac remodeling after myocardial infarction
PMID: 36484260
5
GDF3 variants show pathogenic effects in congenital scoliosis through functional assays
PMID: 29735971
Disease Associationsⓘ23
isolated microphthalmia 7Open Targets
0.63Moderate
microphthalmia, isolated, with colobomaOpen Targets
0.58Moderate
Isolated anophthalmia - microphthalmiaOpen Targets
0.58Moderate
Klippel-Feil syndrome 3, autosomal dominantOpen Targets
0.49Moderate
Klippel-Feil syndromeOpen Targets
0.37Weak
isolated Klippel-Feil syndromeOpen Targets
0.37Weak
microphthalmiaOpen Targets
0.23Weak
neurodegenerative diseaseOpen Targets
0.19Weak
non-alcoholic steatohepatitisOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
SepsisOpen Targets
0.06Suggestive
acute lung injuryOpen Targets
0.06Suggestive
melanomaOpen Targets
0.05Suggestive
Alzheimer diseaseOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.04Suggestive
cancerOpen Targets
0.03Suggestive
esophageal squamous cell carcinomaOpen Targets
0.03Suggestive
obesityOpen Targets
0.03Suggestive
secondary malignant neoplasmOpen Targets
0.03Suggestive
Zika virus infectious diseaseOpen Targets
0.03Suggestive
Klippel-Feil syndrome 3, autosomal dominantUniProt
Microphthalmia, isolated, 7UniProt
Microphthalmia/Coloboma 6UniProt
Pathogenic Variants2
NM_020634.3(GDF3):c.914T>G (p.Leu305Arg)Likely pathogenic
not provided
★☆☆☆2017→ Residue 305
NM_020634.3(GDF3):c.232G>C (p.Val78Leu)Likely pathogenic
not provided
★☆☆☆→ Residue 78
View on ClinVar ↗
Related Genes
POU5F1Protein interaction100%ACVR1CProtein interaction100%ACVR2AProtein interaction94%ACVR2BProtein interaction94%NODALProtein interaction94%DPPA4Protein interaction86%
Tissue Expression6 tissues
Lung
100%
Ovary
100%
Brain
50%
Heart
0%
Bone Marrow
0%
Liver
0%
Gene Interaction Network
Click a node to explore
GDF3POU5F1ACVR1CACVR2AACVR2BNODALDPPA4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NR23
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.51LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.87 [0.53–1.51]
RankingsWhere GDF3 stands among ~20K protein-coding genes
  • #11,713of 20,598
    Most Researched31
  • #4,508of 5,498
    Most Pathogenic Variants2
  • #15,237of 17,882
    Most Constrained (LOEUF)1.51
Genes detectedGDF3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human Genetics of Ventricular Septal Defect.
PMID: 38884729
Adv Exp Med Biol · 2024
1.00
2
Novel Cardiokine GDF3 Predicts Adverse Fibrotic Remodeling After Myocardial Infarction.
PMID: 36484260
Circulation · 2023
0.90
3
The GDF3-ALK7 signaling axis in adipose tissue: a possible therapeutic target for obesity and associated diabetes?
PMID: 37081691
Endocr J · 2023
0.80
4
GDF3 promotes adipose tissue macrophage-mediated inflammation via altered chromatin accessibility during aging.
PMID: 41398392
Nat Aging · 2026
0.70
5
Acute regulation of murine adipose tissue lipolysis and insulin resistance by the TGFβ superfamily protein GDF3.
PMID: 40360531
Nat Commun · 2025
0.60