HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ADIPOQ
adiponectin, C1Q and collagen domain containing
Chromosome 3 · 3q27.3
NCBI Gene: 9370Ensembl: ENSG00000181092.11HGNC: HGNC:13633UniProt: A8K660
2,463PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Highly Studied
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of fat cell differentiationnegative regulation of macrophage differentiationprotein bindingnegative regulation of blood pressurehearing losshyperpituitarismtype 2 diabetes mellitusdiabetes mellitus
✦AI Summary

ADIPOQ encodes adiponectin, a critical adipokine regulating metabolic and inflammatory homeostasis. The protein stimulates AMPK phosphorylation in liver and skeletal muscle to enhance glucose utilization and fatty acid oxidation 1. Adiponectin antagonizes TNF-α by suppressing its expression in liver and macrophages while inhibiting endothelial NF-κB signaling through cAMP-dependent mechanisms 1. The protein also negatively regulates cholesterol import and macrophage foam cell differentiation, contributing to anti-atherogenic effects 2. ADIPOQ variants associate with multiple metabolic and cardiovascular diseases. Polymorphisms rs1501299 and rs2241766 show protective associations against cancer risk 3, while rs266729 and rs822395 increase coronary artery disease risk particularly in Asian populations 2. The rs1501299 polymorphism reduces diabetic retinopathy risk in diabetic patients 1. ADIPOQ variants also influence gestational diabetes mellitus susceptibility and polycystic ovary syndrome risk in ethnicity-dependent patterns 45. Recent proteomic studies identify adiponectin as a strong predictor of osteoporosis development, suggesting roles in bone metabolism pathways including lipid metabolism and immune regulation 6. Bone marrow adipocytes expressing ADIPOQ promote hematopoietic stem cell regeneration through SCF secretion 7.

Sources cited
1
ADIPOQ rs1501299 polymorphism associates with reduced diabetic retinopathy risk; supports ADIPOQ's metabolic and anti-inflammatory functions
PMID: 39202535
2
ADIPOQ polymorphisms rs266729 and rs822395 increase coronary artery disease risk, particularly in Asian populations; rs1501299 reduces CAD risk
PMID: 22386722
3
ADIPOQ SNPs rs2241766 and rs1501299 associate with reduced cancer risk
PMID: 23200411
4
ADIPOQ rs266729 and rs1501299 polymorphisms associate with gestational diabetes mellitus risk and blood pressure parameters
PMID: 37524927
5
ADIPOQ variants rs182052, rs822393, rs7649121, and rs6773957 associate with altered polycystic ovary syndrome risk in ethnicity-dependent patterns
PMID: 35933319
6
Adiponectin is strongly associated with osteoporosis risk and bone mineral density; functions in lipid metabolism and immune regulation pathways
PMID: 39490735
7
Bone marrow adipocytes expressing ADIPOQ promote hematopoietic stem cell regeneration by secreting SCF after irradiation or chemotherapy
PMID: 28714970
Disease Associationsⓘ21
hearing lossOpen Targets
0.26Weak
hyperpituitarismOpen Targets
0.16Weak
type 2 diabetes mellitusOpen Targets
0.14Weak
diabetes mellitusOpen Targets
0.14Weak
metabolic syndromeOpen Targets
0.13Weak
type 1 diabetes mellitusOpen Targets
0.13Weak
glomerulonephritisOpen Targets
0.13Weak
obesityOpen Targets
0.13Weak
coronary artery diseaseOpen Targets
0.12Weak
rheumatoid arthritisOpen Targets
0.12Weak
gestational diabetesOpen Targets
0.12Weak
polycystic ovary syndromeOpen Targets
0.12Weak
breast cancerOpen Targets
0.12Weak
chronic kidney diseaseOpen Targets
0.12Weak
Alzheimer diseaseOpen Targets
0.12Weak
psoriasisOpen Targets
0.12Weak
myeloid sarcomaOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
chronic obstructive pulmonary diseaseOpen Targets
0.11Weak
MODYOpen Targets
0.11Weak
Adiponectin deficiencyUniProt
Pathogenic Variants2
NM_004797.4(ADIPOQ):c.276_285del (p.Gly93fs)Pathogenic
Adiponectin deficiency
☆☆☆☆2023→ Residue 93
NM_004797.4(ADIPOQ):c.334C>T (p.Arg112Cys)Pathogenic
Adiponectin deficiency
☆☆☆☆2003→ Residue 112
View on ClinVar ↗
Related Genes
PPARGC1AProtein interaction100%CDH13Protein interaction100%NAMPTProtein interaction99%CD36Protein interaction98%CFDProtein interaction97%LEPProtein interaction97%
Tissue Expression6 tissues
Heart
100%
Brain
6%
Liver
5%
Lung
5%
Ovary
4%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
ADIPOQPPARGC1ACDH13NAMPTCD36CFDLEP
PROTEIN STRUCTURE
Preparing viewer…
PDB6U66 · 0.99 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.66LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.17 [0.83–1.66]
RankingsWhere ADIPOQ stands among ~20K protein-coding genes
  • #36of 20,598
    Most Researched2,463 · top 1%
  • #4,181of 5,498
    Most Pathogenic Variants2
  • #15,923of 17,882
    Most Constrained (LOEUF)1.66
Genes detectedADIPOQ
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
Plasma proteomic profiles reveal proteins and three characteristic patterns associated with osteoporosis: A prospective cohort study.
PMID: 39490735
J Adv Res · 2025
1.00
2
Association between ADIPOQ G276T and C11377G polymorphisms and the risk of non-alcoholic fatty liver disease: An updated meta-analysis.
PMID: 30838812
Mol Genet Genomic Med · 2019
0.94
3
ADIPOQ gene polymorphisms and cancer risk: a meta-analysis.
PMID: 23200411
Cytokine · 2013
0.90
4
Associations between ADIPOQ polymorphisms and coronary artery disease: a meta-analysis.
PMID: 30885128
BMC Cardiovasc Disord · 2019
0.88
5
Correlation of ADIPOQ Gene Single Nucleotide Polymorphisms with Bone Strength Index in Middle-Aged and the Elderly of Guangxi Mulam Ethnic Group.
PMID: 34948648
Int J Environ Res Public Health · 2021
0.80