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Gene Symbol |
ADIPOQ |
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Aliases |
ACDC, ACRP30, ADIPQTL1, ADPN, APM-1, APM1, GBP28 |
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Entrez Gene ID |
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Gene Name |
Adiponectin, C1Q and collagen domain containing |
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Chromosomal Location |
3q27.3 |
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HGNC ID |
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Summary |
This gene is expressed in adipose tissue exclusively. It encodes a protein with similarity to collagens X and VIII and complement factor C1q. The encoded protein circulates in the plasma and is involved with metabolic and hormonal processes. Mutations in this gene are associated with adiponectin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Apr 2010]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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Protein Information |
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Protein Name |
Adiponectin, 30 kDa adipocyte complement-related protein, adipocyte complement-related 30 kDa protein, adipose most abundant gene transcript 1 protein, adipose specific collagen-like factor, gelatin-binding protein 28 |
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Function |
Important adipokine involved in the control of fat metabolism and insulin sensitivity, with direct anti-diabetic, anti-atherogenic and anti-inflammatory activities. Stimulates AMPK phosphorylation and activation in the liver and the skeletal muscle, enhancing glucose utilization and fatty-acid combustion. Antagonizes TNF-alpha by negatively regulating its expression in various tissues such as liver and macrophages, and also by counteracting its effects. Inhibits endothelial NF-kappa-B signaling through a cAMP-dependent pathway. May play a role in cell growth, angiogenesis and tissue remodeling by binding and sequestering various growth factors with distinct binding affinities, depending on the type of complex, LMW, MMW or HMW |
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UniProt |
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PDB |
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Interactions |
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STRING |
MINT |
IntAct |
ENSP00000335074 |
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Q9UBU3 |
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View interactions
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Associated Diseases
Disease group | Disease Name | References |
Cardiovascular Diseases |
Myocardial Ischemia |
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Heart Failure |
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Myocardial Failure |
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Atherosclerosis |
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Coronary Restenosis |
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Hyperemia |
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Hypertensive disease |
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Digestive System Diseases |
Liver Diseases |
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Non-alcoholic Fatty Liver Disease |
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Crohn Disease |
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Hepatitis |
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Enteritis |
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Colitis |
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Endocrine System Diseases |
Glomerulosclerosis |
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Diabetes Mellitus |
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PCOS |
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Immune System Diseases |
Rheumatoid Arthritis |
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Nutritional and Metabolic Diseases |
Metabolic Syndrome X |
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Obesity |
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Hypoadiponectinemia |
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Adiponectin Deficiency |
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Gluocose Intolerance |
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Psychiatric/Brain disorders |
Obstructive Sleep Apnea |
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Renal Disorder |
Kidney Failure |
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Diabetic Nephropathy |
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Respiratory Tract Diseases |
Pulmonary Fibrosis |
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Pulmonary Edema |
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References |
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PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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PCOS |
rs1501299 |
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Direct
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224 unrelated Han Chinese PCOS patients and parents |
TDT confirms that SNP rs1501299 in the ADIPOQ is significantly associated with the risk of PCOS in the Chinese Han population. The three SNP of the ADIPOQ were not associated with the obesity of PCOS. |
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NPPA |
PCOS |
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Rotterdam criteria |
Direct
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40 PCOS patients, 36 controls |
Women with PCOS had lower ANP and adiponectin compared with controls matched for age and BMI. Thus, the mechanisms that affect ANP and adiponectin production and clearance may be altered in PCOS, regardless of adiposity. These hormones may be involved in the metabolic features of PCOS. |
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PCOS, Blood Pressure |
Haplotype TGTG from SNP 45T/G and 276G/T |
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Related
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80 women with PCOS and 1500 non-hirsute controls |
Haplotype TGTG from adiponectin gene variants 45T/G and 276G/T is related to susceptibility to PCOS, and might be associated with increased blood pressure in PCOS. |
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PCOS |
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Rotterdam criteria |
Related
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118 young Taiwanese women with PCOS |
The study demonstrates that adiponectin is an independent biomarker that is positively and evidently related to HDL-C and TGs in women with PCOS |
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IGFBP-3, TNF |
PCOS, insulin sensitivity |
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NICHD criteria |
Related
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40 women with PCOS and 40 age- and body mass index (BMI)-matched regular cycling women (controls) |
IGFBP-3 and TNF levels were not associated with insulin sensitivity, but adiponectin levels were related to insulin sensitivity in women with PCOS. |
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PCOS |
45T>G and 276G>T |
NIH-NICHD criteria |
Related
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100 PCOS, 140 controls |
Adiponectin gene polymorphisms at positions +45 and +276 are not associated with PCOS. However, these genomic variants may influence production of adiponectin and the metabolic variables related to insulin resistance/metabolic syndrome in patients with PCOS |
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PCOS |
rs2241766, rs1501299 |
Rotterdam criteria |
Related
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224 unrelated PCOS probands, their biologic parents, and 204 control subjects of Chinese Han population |
The results of this study confirms that the SNP rs1501299 in the ADIPOQ is significantly associated with the risk of PCOS in the Chinese Han population |
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