chr13:109752695:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:110,405,042-110,438,930 |
| hg38 | chr13:109,752,695-109,786,583 |
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 |
|---|---|---|---|---|---|
| <0.001 | squamous cell carcinoma | NA | BeFree | Detail | |
| 0.007 | Colonic Neoplasms | NA | GAD,LHGDN | Detail | |
| 0.002 | colorectal carcinoma | IRS2 copy number gain, KRAS and BRAF mutation status as predictive biomarkers fo... | BeFree | 25527633 | Detail |
| 0.002 | colorectal carcinoma | Given the role of insulin resistance in colorectal cancer (CRC), we explored whe... | BeFree | 25557790 | Detail |
| <0.001 | Coronary Arteriosclerosis | NA | BeFree | Detail | |
| <0.001 | Coronary heart disease | NA | BeFree | Detail | |
| 0.005 | Diabetes | The best evidence of this is that systemic elimination of the Irs2 in mice (Irs2... | BeFree | 24977713 | Detail |
| 0.005 | diabetes mellitus | The best evidence of this is that systemic elimination of the Irs2 in mice (Irs2... | BeFree | 24977713 | Detail |
| 0.080 | Diabetes Mellitus, Experimental | NA | RGD | Detail | |
| 0.002 | Diabetes Mellitus, Insulin-Dependent | NA | GAD | Detail | |
| 0.229 | Diabetes Mellitus, Non-Insulin-Dependent | For all these reasons, the Irs2(-/-) mouse has been and will be essential for el... | BeFree,CTD_human,GAD,LHGDN,MGD | 24977713 | Detail |
| <0.001 | Diabetic Nephropathy | NA | BeFree | Detail | |
| 0.002 | Endometrial Neoplasms | NA | GAD | Detail | |
| <0.001 | endometriosis | NA | BeFree | Detail | |
| <0.001 | Epilepsy, Temporal Lobe | Association of insulin receptor H1085H C>T, insulin receptor substrate 1 G972R a... | BeFree | 25458098 | Detail |
| 0.080 | Fetal Growth Retardation | NA | RGD | Detail | |
| <0.001 | glioblastoma | NA | BeFree | Detail | |
| <0.001 | Atrial Septal Defects | NA | BeFree | Detail | |
| <0.001 | Huntington disease | NA | BeFree | Detail | |
| 0.121 | hyperglycemia | NA | BeFree,CTD_human | Detail | |
| <0.001 | hyperinsulinism | These studies have shown that IRS2 is critically required for beta-cell compensa... | BeFree | 24977713 | Detail |
| 0.005 | Hyperplasia | NA | LHGDN | Detail | |
| 0.003 | Hypertensive disease | Thus, preserved stimulation of proximal tubule transport through the insulin/IRS... | BeFree,GAD | 25354240 | Detail |
| <0.001 | hypoglycemia | NA | BeFree | Detail | |
| 0.002 | Inflammatory Bowel Diseases | NA | GAD | Detail | |
| 0.002 | Insulin resistance | NA | GAD | Detail | |
| <0.001 | Kidney Diseases | NA | BeFree | Detail | |
| <0.001 | leiomyosarcoma | NA | BeFree | Detail | |
| 0.002 | Liver diseases | NA | GAD | Detail | |
| <0.001 | Liver neoplasms | NA | BeFree | Detail | |
| 0.120 | medulloblastoma | NA | CTD_human | Detail | |
| 0.003 | multiple myeloma | NA | BeFree,GAD | Detail | |
| <0.001 | Myelodysplasia | NA | BeFree | Detail | |
| 0.004 | Neoplasm Metastasis | NA | BeFree,LHGDN | Detail | |
| 0.015 | obesity | A significant effect of interaction of carrying both IRS-1 Gly/Arg and IRS-2 Asp... | BeFree,GAD | 25310961 | Detail |
| 0.015 | obesity | Results of this study provide evidence that obesity affects the expression of th... | BeFree,GAD | 26040030 | Detail |
| <0.001 | Obesity, Morbid | NA | BeFree | Detail | |
| 0.083 | osteoporosis | NA | LHGDN,RGD | Detail | |
| <0.001 | ovarian carcinoma | NA | BeFree | Detail | |
| 0.002 | Ovarian Diseases | NA | BeFree | Detail | |
| 0.008 | Pancreatic Neoplasm | NA | GAD,LHGDN | Detail | |
| 0.011 | polycystic ovary syndrome | Women with IRS-2 homozygous Asp variant may be considered as a risk factor for P... | BeFree,GAD,LHGDN | 25310961 | Detail |
| <0.001 | Adenomatous Polyposis Coli | NA | BeFree | Detail | |
| <0.001 | Preleukemia | NA | BeFree | Detail | |
| 0.005 | Diabetes | The aim of our study was to investigate whether common polymorphisms in the gene... | BeFree | 15127203 | Detail |
| 0.005 | diabetes mellitus | The aim of our study was to investigate whether common polymorphisms in the gene... | BeFree | 15127203 | Detail |
| 0.120 | Stomach Neoplasms | NA | CTD_human | Detail | |
| <0.001 | thymoma | NA | BeFree | Detail | |
| <0.001 | B-Cell Lymphomas | NA | BeFree | Detail | |
| <0.001 | gestational diabetes | NA | BeFree | Detail | |
| <0.001 | Tumor Progression | NA | BeFree | Detail | |
| 0.003 | hyperandrogenism | NA | LHGDN | Detail | |
| <0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of lung | We conclude that AFB1 may upregulate IRS2 and stimulate lung cancer cell migrati... | BeFree | 25820822 | Detail |
| <0.001 | Impaired glucose tolerance | NA | BeFree | Detail | |
| <0.001 | Adenocarcinoma of pancreas | NA | BeFree | Detail | |
| <0.001 | Prostatic Intraepithelial Neoplasias | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of pancreas | NA | BeFree | Detail | |
| 0.006 | Malignant neoplasm of prostate | NA | BeFree,GAD | Detail | |
| 0.081 | Non-alcoholic Fatty Liver Disease | NA | BeFree,RGD | Detail | |
| <0.001 | Chronic Kidney Insufficiency | NA | BeFree | Detail | |
| <0.001 | Overweight | NA | BeFree | Detail | |
| 0.002 | body mass | NA | GAD | Detail | |
| 0.004 | Metabolic syndrome X | Thus, preserved stimulation of proximal tubule transport through the insulin/IRS... | BeFree,GAD | 25354240 | Detail |
| 0.004 | Metabolic syndrome X | Of these SNPs, five SNPs were significantly associated with MetS (P < 0.05): LRP... | BeFree,GAD | 25646961 | Detail |
| <0.001 | Carcinogenesis | Role of microRNA 30a targeting insulin receptor substrate 2 in colorectal tumori... | BeFree | 25582198 | Detail |
| <0.001 | Tumor Initiation | NA | BeFree | Detail | |
| <0.001 | prostate carcinoma | NA | BeFree | Detail | |
| 0.004 | breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of lung | We conclude that AFB1 may upregulate IRS2 and stimulate lung cancer cell migrati... | BeFree | 25820822 | Detail |
| <0.001 | colon carcinoma | Taken together, our study provides the first evidence that miR-30a suppressed co... | BeFree | 25582198 | Detail |
| <0.001 | Adenoviral infections | NA | BeFree | Detail | |
| 0.002 | Microsatellite Instability | NA | GAD | Detail | |
| <0.001 | Malignant neoplasm of ovary | NA | BeFree | Detail | |
| <0.001 | sarcoma | NA | BeFree | Detail | |
| 0.005 | Systemic arterial pressure | NA | GAD | Detail | |
| 0.009 | Mammary Neoplasms | NA | BeFree,LHGDN | Detail | |
| <0.001 | Cancer Cell Growth | NA | BeFree | Detail | |
| 0.009 | colorectal cancer | IRS2 copy number gain, KRAS and BRAF mutation status as predictive biomarkers fo... | BeFree,GAD | 25527633 | Detail |
| 0.009 | colorectal cancer | Given the role of insulin resistance in colorectal cancer (CRC), we explored whe... | BeFree,GAD | 25557790 | Detail |
| <0.001 | Chronic Kidney Diseases | NA | BeFree | Detail | |
| <0.001 | coronary artery disease | NA | BeFree | Detail | |
| 0.121 | liver carcinoma | NA | BeFree,CTD_human | Detail | |
| <0.001 | Steatohepatitis | NA | BeFree | Detail | |
| <0.001 | myelodysplastic syndrome | NA | BeFree | Detail | |
| 0.002 | adenocarcinoma | NA | GAD | Detail | |
| 0.002 | Alzheimer's disease | NA | GAD | Detail | |
| <0.001 | arteriosclerosis | NA | BeFree | Detail | |
| 0.002 | ascariasis | NA | GAD | Detail | |
| 0.002 | asthma | NA | GAD | Detail | |
| 0.001 | ataxia telangiectasia | NA | BeFree | Detail | |
| 0.003 | atherosclerosis | NA | BeFree,GAD | Detail | |
| 0.002 | Malignant neoplasm of urinary bladder | NA | GAD | Detail | |
| 0.011 | Malignant neoplasm of breast | NA | BeFree,GAD | Detail | |
| 0.003 | Malignant tumor of colon | Taken together, our study provides the first evidence that miR-30a suppressed co... | BeFree,GAD | 25582198 | Detail |
| <0.001 | Rectal Carcinoma | NA | BeFree | Detail | |
| <0.001 | Noninfiltrating Intraductal Carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| IRS2 copy number gain, KRAS and BRAF mutation status as predictive biomarkers for response to the IG... | DisGeNET | Detail |
| Given the role of insulin resistance in colorectal cancer (CRC), we explored whether genetic variant... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The best evidence of this is that systemic elimination of the Irs2 in mice (Irs2(-/-)) recapitulates... | DisGeNET | Detail |
| The best evidence of this is that systemic elimination of the Irs2 in mice (Irs2(-/-)) recapitulates... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| For all these reasons, the Irs2(-/-) mouse has been and will be essential for elucidating the inter-... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Association of insulin receptor H1085H C>T, insulin receptor substrate 1 G972R and insulin receptor ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| These studies have shown that IRS2 is critically required for beta-cell compensation in conditions o... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Thus, preserved stimulation of proximal tubule transport through the insulin/IRS2/PI3-K pathway may ... | 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 |
| A significant effect of interaction of carrying both IRS-1 Gly/Arg and IRS-2 Asp/Asp was also observ... | DisGeNET | Detail |
| Results of this study provide evidence that obesity affects the expression of the subset of genes re... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Women with IRS-2 homozygous Asp variant may be considered as a risk factor for PCOS that needs early... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... | DisGeNET | Detail |
| The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We conclude that AFB1 may upregulate IRS2 and stimulate lung cancer cell migration through Src. | 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 |
| Thus, preserved stimulation of proximal tubule transport through the insulin/IRS2/PI3-K pathway may ... | DisGeNET | Detail |
| Of these SNPs, five SNPs were significantly associated with MetS (P < 0.05): LRP2 rs2544390, rs18005... | DisGeNET | Detail |
| Role of microRNA 30a targeting insulin receptor substrate 2 in colorectal tumorigenesis. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We conclude that AFB1 may upregulate IRS2 and stimulate lung cancer cell migration through Src. | DisGeNET | Detail |
| Taken together, our study provides the first evidence that miR-30a suppressed colon cancer cell grow... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| IRS2 copy number gain, KRAS and BRAF mutation status as predictive biomarkers for response to the IG... | DisGeNET | Detail |
| Given the role of insulin resistance in colorectal cancer (CRC), we explored whether genetic variant... | 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 |
| Taken together, our study provides the first evidence that miR-30a suppressed colon cancer cell grow... | 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
- rs386584794 dbSNP
- Genome
- hg38
- Position
- chr13:109,752,695-109,786,583
- Variant Type
- snv
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