ADIPOQ Gene: Adiponectin, C1Q And Collagen Domain Containing
Genetic and Functional Insights into Adiponectin: From Adipose Biology to Metabolic Disease
Gene Information Card
| Symbol | ADIPOQ |
|---|---|
| Full Name | adiponectin, C1Q and collagen domain containing |
| Gene Type | protein coding |
| Chromosomal Location | 3q27.3 |
| NCBI Gene ID | 9370 ncbi.nlm.nih.gov/gene/9370 |
| Ensembl ID | ENSG00000181092 |
| UniProt ID | Q15848 |
| OMIM ID | 605441 |
| HGNC ID | 13633 |
| Aliases | ACDC, ACRP30, ADIPQTL1, ADPN, APM-1, GBP28 |
Description
The ADIPOQ gene encodes adiponectin, a protein hormone primarily secreted by adipose tissue. Adiponectin circulates in the blood and plays a crucial role in regulating glucose levels, fatty acid oxidation, and insulin sensitivity. It exerts its effects through two receptors, ADIPOR1 and ADIPOR2, and is involved in various metabolic processes. Adiponectin levels are inversely correlated with obesity, type 2 diabetes, and cardiovascular disease, making it a key biomarker and therapeutic target.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Reduced adiponectin expression and secretion from adipose tissue; low circulating levels are associated with increased fat mass and metabolic dysfunction. | Multiple studies, including GWAS and meta-analyses (e.g., PMID: 19060904, 22474033). |
| Type 2 Diabetes | Adiponectin enhances insulin sensitivity via AMPK and PPAR-alpha pathways; deficiency leads to insulin resistance and impaired glucose homeostasis. | Clinical and genetic studies (e.g., PMID: 15111507, 19060904). |
| Cardiovascular Disease | Adiponectin has anti-inflammatory and anti-atherogenic properties; low levels are linked to endothelial dysfunction and increased risk of atherosclerosis. | Epidemiological and mechanistic studies (e.g., PMID: 15111507, 22474033). |
| Metabolic Syndrome | Hypoadiponectinemia is a component of metabolic syndrome, contributing to dyslipidemia, hypertension, and insulin resistance. | Cross-sectional and longitudinal studies (e.g., PMID: 19060904). |
| Non-alcoholic Fatty Liver Disease (NAFLD) | Adiponectin deficiency exacerbates hepatic steatosis and inflammation; adiponectin protects against liver fibrosis. | Clinical and animal studies (e.g., PMID: 22474033). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose Tissue | High | High |
| Liver | Low | Low |
| Skeletal Muscle | Low | Low |
| Heart | Low | Low |
| Placenta | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Adipocytes | High | Primary site of expression |
| Hepatocytes | Low | Minimal expression |
| Myocytes | Low | Minimal expression |
| Macrophages | Low | Expression in some contexts |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs266729 (-11377C>G) | SNP (promoter) | ~10-20% (allele frequency varies by population) | Associated with reduced promoter activity and lower adiponectin levels, linked to increased risk of type 2 diabetes and metabolic syndrome. |
| rs2241766 (G/T, synonymous) | SNP (exon 2) | ~30-50% | Associated with altered adiponectin levels and obesity risk in some populations. |
| rs1501299 (intronic) | SNP (intron 2) | ~30-40% | Associated with reduced adiponectin levels and increased risk of insulin resistance. |
| R112C (missense) | Missense | Rare | Impairs adiponectin multimerization and secretion, leading to low circulating levels and metabolic dysfunction. |
| G90S (missense) | Missense | Rare | Disrupts collagen domain, affecting multimer formation and secretion. |
| I164T (missense) | Missense | Rare | Impairs secretion and multimerization, associated with hypoadiponectinemia and type 2 diabetes. |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce adiponectin secretion or multimerization (e.g., R112C, G90S, I164T) lead to loss of functional adiponectin, causing insulin resistance and metabolic disease.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported; most variants are loss-of-function or regulatory.
Dominant Negative (DN)
Some missense mutations (e.g., R112C) may exert dominant-negative effects by interfering with multimer assembly, reducing the secretion of wild-type adiponectin.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005179 hormone activity | • GO:0005515 protein binding |
| • GO:0005615 extracellular space | • GO:0005576 extracellular region |
| • GO:0006954 inflammatory response | • GO:0008283 cell population proliferation |
| • GO:0009749 response to glucose | • GO:0010906 regulation of glucose metabolic process |
| • GO:0032868 response to insulin | • GO:0042593 glucose homeostasis |
| • GO:0043065 positive regulation of apoptotic process | • GO:0046326 positive regulation of glucose import |
| • GO:0050728 negative regulation of inflammatory response | • GO:0050796 regulation of insulin secretion |
| • GO:0060586 positive regulation of fatty acid oxidation |
Pathways
• AMPK signaling pathway (Reactome: R-HSA-163285)
• PPAR signaling pathway (KEGG: hsa03320)
• Adipocytokine signaling pathway (KEGG: hsa04920)
• Regulation of lipolysis in adipocytes (KEGG: hsa04923)
• Insulin signaling pathway (KEGG: hsa04910)
Protein Summary
Adiponectin is a 244-amino acid protein (30 kDa) that forms homotrimers, hexamers, and high-molecular-weight (HMW) multimers. It contains a collagen-like domain and a C1q-like globular domain. The HMW form is the most biologically active. Adiponectin binds to receptors ADIPOR1 and ADIPOR2, activating AMPK, PPAR-alpha, and other signaling cascades, leading to enhanced insulin sensitivity, fatty acid oxidation, and anti-inflammatory effects. It is exclusively secreted by adipocytes and circulates at high levels in plasma (5-30 µg/mL).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADIPOQ Knockout HEK293 Cell Line | EDJ-KQ1859 | Human | 9370 | Details Get a Quote |
| ADIPOQ Knockout HeLa Cell Line | EDJ-KQ55143 | Human | 9370 | Details Get a Quote |
| ADIPOQ Knockout A-549 Cell Line | EDJ-KQ63622 | Human | 9370 | Details Get a Quote |
| ADIPOQ Knockout HCT 116 Cell Line | EDJ-KQ72087 | Human | 9370 | Details Get a Quote |
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