chr11:73685717:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:73,685,717-73,693,888 |
| hg38 | chr11:73,974,672-73,982,843 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.008 | Cardiovascular Diseases | NA | BeFree,GAD | Detail | |
| 0.120 | brain ischemia | NA | BeFree,CTD_human | Detail | |
| 0.080 | Transient ischemic attack | NA | RGD | Detail | |
| 0.002 | Cerebrovascular Disorders | NA | GAD | Detail | |
| 0.002 | Cholangitis, Sclerosing | NA | GAD | Detail | |
| 0.002 | Churg-Strauss syndrome | NA | GAD | Detail | |
| 0.003 | ulcerative colitis | NA | BeFree,GAD | Detail | |
| 0.005 | Colonic Neoplasms | NA | LHGDN | Detail | |
| 0.003 | Coronary Arteriosclerosis | NA | BeFree,GAD | Detail | |
| 0.006 | Coronary heart disease | NA | BeFree,GAD | Detail | |
| 0.002 | Crohn Disease | NA | GAD | Detail | |
| 0.007 | Diabetes | Concerning the metabolic traits, the UCP2 A/A genotype was associated with highe... | BeFree | 25351290 | Detail |
| 0.007 | Diabetes | The mitochondrial protective gene PGC-1α is also closely related to diabetes, an... | BeFree | 26315270 | Detail |
| 0.012 | diabetes mellitus | Concerning the metabolic traits, the UCP2 A/A genotype was associated with highe... | BeFree,GAD | 25351290 | Detail |
| 0.012 | diabetes mellitus | The mitochondrial protective gene PGC-1α is also closely related to diabetes, an... | BeFree,GAD | 26315270 | Detail |
| 0.200 | Diabetes Mellitus, Experimental | NA | CTD_human,RGD | Detail | |
| <0.001 | Diabetes Mellitus, Insulin-Dependent | NA | BeFree | Detail | |
| 0.274 | Diabetes Mellitus, Non-Insulin-Dependent | It was indicated that UCP2 may be implicated in the pathogenesis of type 2 DM an... | BeFree,CTD_human,GAD,LHGDN,RGD | 25396419 | Detail |
| 0.002 | Diabetic Angiopathies | NA | GAD | Detail | |
| 0.003 | Diabetic Nephropathy | NA | BeFree,LHGDN | Detail | |
| 0.008 | Diabetic Neuropathies | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | diabetic retinopathy | Investigation of variants in UCP2 in Chinese type 2 diabetes and diabetic retino... | BeFree | 25396419 | Detail |
| <0.001 | Experimental Autoimmune Encephalomyelitis | NA | BeFree | Detail | |
| 0.002 | Endometrial Neoplasms | NA | GAD | Detail | |
| 0.003 | epilepsy | NA | BeFree,LHGDN | Detail | |
| 0.201 | Fatty Liver | NA | BeFree,CTD_human,RGD | Detail | |
| 0.120 | IgA glomerulonephritis | NA | CTD_human | Detail | |
| 0.002 | Graves Disease | NA | GAD | Detail | |
| 0.120 | Cardiomegaly | NA | CTD_human | Detail | |
| 0.080 | Heart failure | NA | RGD | Detail | |
| 0.006 | hyperglycemia | Our results indicate that endothelial UCP2 may function as a sensor and negative... | BeFree,GAD,LHGDN | 25910810 | Detail |
| 0.001 | hyperinsulinism | NA | BeFree | Detail | |
| <0.001 | hyperthyroidism | NA | BeFree | Detail | |
| <0.001 | hypoglycemia | NA | BeFree | Detail | |
| 0.080 | hypothyroidism | NA | BeFree,RGD | Detail | |
| 0.002 | Inflammation | NA | GAD | Detail | |
| 0.007 | Insulin resistance | NA | GAD | Detail | |
| <0.001 | ischemia | NA | BeFree | Detail | |
| 0.080 | Jaundice, Obstructive | NA | RGD | Detail | |
| 0.008 | Kidney Failure, Chronic | NA | BeFree,GAD | Detail | |
| <0.001 | leukemia | NA | BeFree | Detail | |
| <0.001 | Liver diseases | Given the role of uncoupling protein 2 (UCP2) in the accumulation of fat in the ... | BeFree | 26526553 | Detail |
| 0.003 | Lupus Erythematosus, Systemic | NA | BeFree,GAD | Detail | |
| 0.120 | Animal Mammary Neoplasms | NA | CTD_human | Detail | |
| 0.120 | Mammary Neoplasms, Experimental | NA | CTD_human | Detail | |
| <0.001 | melanoma | NA | BeFree | Detail | |
| <0.001 | Metabolic Diseases | NA | BeFree | Detail | |
| 0.014 | multiple sclerosis | NA | BeFree,GAD,LHGDN | Detail | |
| 0.003 | myocardial infarction | NA | BeFree,GAD | Detail | |
| 0.080 | Myocardial Reperfusion Injury | NA | RGD | Detail | |
| 0.005 | Neural Tube Defects | NA | GAD | Detail | |
| 0.007 | Obesity, Morbid | NA | BeFree,GAD | Detail | |
| <0.001 | obsessive-compulsive disorder | NA | BeFree | Detail | |
| <0.001 | Ovarian Diseases | NA | BeFree | Detail | |
| <0.001 | polycystic ovary syndrome | NA | BeFree | Detail | |
| <0.001 | Prostatic Neoplasms | NA | BeFree | Detail | |
| 0.002 | psoriasis | NA | GAD | Detail | |
| <0.001 | kidney failure | NA | BeFree | Detail | |
| 0.006 | schizophrenia | NA | BeFree,GAD,LHGDN | Detail | |
| 0.274 | Diabetes Mellitus, Non-Insulin-Dependent | By using a Cox proportional hazard model, common variants in the PPARG (P12A), C... | BeFree | 17570749 | Detail |
| <0.001 | Seizures | NA | BeFree | Detail | |
| 0.120 | Cerebrovascular accident | NA | BeFree,CTD_human | Detail | |
| <0.001 | Thrombocythemia, Essential | Among the twenty most up- and downregulated genes, ATOX1, DEFB122, GPX8, PRDX2, ... | BeFree | 25397683 | Detail |
| <0.001 | Thyroid Diseases | NA | BeFree | Detail | |
| <0.001 | Thyroid Neoplasm | NA | BeFree | Detail | |
| 0.002 | Venous Thrombosis | NA | GAD | Detail | |
| <0.001 | B-Cell Lymphomas | NA | BeFree | Detail | |
| 0.003 | spina bifida | NA | BeFree,LHGDN | Detail | |
| <0.001 | renal fibrosis | NA | BeFree | Detail | |
| 0.002 | Myocardial Ischemia | NA | GAD | Detail | |
| 0.003 | proliferative diabetic retinopathy | NA | BeFree,GAD | Detail | |
| 0.080 | Liver Failure, Acute | NA | RGD | Detail | |
| 0.080 | Right Ventricular Hypertrophy | NA | RGD | Detail | |
| <0.001 | hyperandrogenism | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of lung | NA | BeFree | Detail | |
| 0.005 | Oxidative Stress | NA | GAD | Detail | |
| 0.002 | Sepsis | NA | GAD | Detail | |
| 0.003 | Impaired glucose tolerance | NA | BeFree,GAD | Detail | |
| <0.001 | Obesity, Abdominal | NA | BeFree | Detail | |
| 0.002 | Complications of Diabetes Mellitus | NA | GAD | Detail | |
| 0.080 | Toxic effect of carbon tetrachloride | NA | RGD | Detail | |
| 0.081 | Non-alcoholic Fatty Liver Disease | NA | BeFree,RGD | Detail | |
| <0.001 | Chronic Kidney Insufficiency | NA | BeFree | Detail | |
| <0.001 | Simple obesity | NA | BeFree | Detail | |
| 0.011 | Overweight | NA | BeFree,GAD | Detail | |
| 0.009 | body mass | NA | GAD | Detail | |
| 0.002 | Sleep Apnea, Obstructive | NA | GAD | Detail | |
| 0.008 | Metabolic syndrome X | Impact of UCP2 polymorphism on long-term exercise-mediated changes in adipocytok... | BeFree,GAD | 24659521 | Detail |
| 0.006 | Neurodegenerative Disorders | NA | BeFree,LHGDN | Detail | |
| 0.003 | Carotid Atherosclerosis | NA | BeFree,GAD | Detail | |
| <0.001 | Carcinogenesis | NA | BeFree | Detail | |
| <0.001 | Neurogenic hypertension | NA | BeFree | Detail | |
| 0.003 | hyperhomocysteinemia | NA | BeFree,GAD | Detail | |
| <0.001 | breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | colon carcinoma | NA | BeFree | Detail | |
| <0.001 | Mitochondrial Diseases | NA | BeFree | Detail | |
| <0.001 | Adenoviral infections | NA | BeFree | Detail | |
| <0.001 | Endothelial dysfunction | NA | BeFree | Detail | |
| <0.001 | Ischemic stroke | NA | BeFree | Detail | |
| 0.002 | Acute coronary syndrome | NA | GAD | Detail | |
| 0.002 | Glucose Metabolism Disorders | NA | GAD | Detail | |
| <0.001 | Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation | NA | BeFree | Detail | |
| 0.080 | hearing impairment | NA | RGD | Detail | |
| 0.003 | Mammary Neoplasms | NA | BeFree,GAD | Detail | |
| <0.001 | Chronic Kidney Diseases | NA | BeFree | Detail | |
| <0.001 | Overweight and obesity | NA | BeFree | Detail | |
| <0.001 | Severe Sepsis | NA | BeFree | Detail | |
| 0.006 | coronary artery disease | NA | BeFree,LHGDN | Detail | |
| 0.009 | Weight Loss Adverse Event | NA | GAD | Detail | |
| <0.001 | Nonalcoholic Steatohepatitis | The UCP2 -866 G>A promoter region polymorphism is associated with nonalcoholic s... | BeFree | 25351290 | Detail |
| <0.001 | Ischemic Cerebrovascular Accident | NA | BeFree | Detail | |
| <0.001 | Homocysteinemia | NA | BeFree | Detail | |
| <0.001 | amyotrophic lateral sclerosis | NA | BeFree | Detail | |
| 0.003 | Anorexia | NA | LHGDN | Detail | |
| 0.003 | anorexia nervosa | NA | BeFree,LHGDN | Detail | |
| 0.003 | Anoxia | NA | LHGDN | Detail | |
| 0.002 | arteriosclerosis | NA | BeFree | Detail | |
| 0.003 | rheumatoid arthritis | NA | BeFree,GAD | Detail | |
| 0.009 | atherosclerosis | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | Malignant neoplasm of breast | NA | BeFree | Detail | |
| <0.001 | Malignant tumor of colon | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Concerning the metabolic traits, the UCP2 A/A genotype was associated with higher total serum choles... | DisGeNET | Detail |
| The mitochondrial protective gene PGC-1α is also closely related to diabetes, and UCP2 is related to... | DisGeNET | Detail |
| Concerning the metabolic traits, the UCP2 A/A genotype was associated with higher total serum choles... | DisGeNET | Detail |
| The mitochondrial protective gene PGC-1α is also closely related to diabetes, and UCP2 is related to... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| It was indicated that UCP2 may be implicated in the pathogenesis of type 2 DM and DR in Chinese popu... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Investigation of variants in UCP2 in Chinese type 2 diabetes and diabetic retinopathy. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our results indicate that endothelial UCP2 may function as a sensor and negative regulator of mitoch... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Given the role of uncoupling protein 2 (UCP2) in the accumulation of fat in the hepatocytes and in t... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| By using a Cox proportional hazard model, common variants in the PPARG (P12A), CAPN10 (SNP43 and 44)... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Among the twenty most up- and downregulated genes, ATOX1, DEFB122, GPX8, PRDX2, PRDX6, PTGS1, and SE... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Impact of UCP2 polymorphism on long-term exercise-mediated changes in adipocytokines and markers of ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The UCP2 -866 G>A promoter region polymorphism is associated with nonalcoholic steatohepatitis. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs386597997 dbSNP
- Genome
- hg19
- Position
- chr11:73,685,717-73,693,888
- Variant Type
- snv
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