chr2:227596028:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:227,596,028-227,664,536 |
| hg38 | chr2:226,731,312-226,799,820 |
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 |
|---|---|---|---|---|---|
| 0.011 | Cardiovascular Diseases | NA | BeFree,GAD,LHGDN | Detail | |
| 0.120 | Neoplastic Cell Transformation | NA | CTD_human | Detail | |
| 0.002 | chorioamnionitis | NA | GAD | Detail | |
| 0.007 | Colonic Neoplasms | NA | GAD,LHGDN | Detail | |
| 0.003 | colorectal carcinoma | Given the role of insulin resistance in colorectal cancer (CRC), we explored whe... | BeFree | 25557790 | Detail |
| 0.003 | colorectal carcinoma | Loss of IRS1 expression was identified in 31% of the CRCs. | BeFree | 25776026 | Detail |
| 0.003 | Colorectal Neoplasms | NA | LHGDN | Detail | |
| 0.006 | Coronary Arteriosclerosis | NA | BeFree,GAD | Detail | |
| 0.006 | Coronary heart disease | NA | BeFree,GAD | Detail | |
| <0.001 | craniosynostosis | NA | BeFree | Detail | |
| 0.200 | Diabetes Mellitus, Experimental | NA | CTD_human,RGD | Detail | |
| 0.008 | Diabetes Mellitus, Insulin-Dependent | NA | BeFree,GAD | Detail | |
| 0.002 | Endometrial Neoplasms | NA | GAD | Detail | |
| <0.001 | Epilepsy, Temporal Lobe | Association of insulin receptor H1085H C>T, insulin receptor substrate 1 G972R a... | BeFree | 25458098 | Detail |
| 0.002 | Fatty Liver | NA | GAD | Detail | |
| 0.080 | Fetal Growth Retardation | NA | RGD | Detail | |
| 0.002 | Fetal Membranes, Premature Rupture | NA | GAD | Detail | |
| <0.001 | glioblastoma | γ₁34.5-deleted HSV-1-expressing human cytomegalovirus IRS1 gene kills human glio... | BeFree | 25427614 | Detail |
| <0.001 | hepatitis | NA | BeFree | Detail | |
| <0.001 | hepatitis A | NA | BeFree | Detail | |
| 0.003 | hepatitis C | NA | BeFree,LHGDN | Detail | |
| <0.001 | Herpes Simplex Infections | γ₁34.5-deleted HSV-1-expressing human cytomegalovirus IRS1 gene kills human glio... | BeFree | 25427614 | Detail |
| <0.001 | hyperglycemia | This was also consistent with lack of IRS-1 phosphorylation on Ser-24 in hypergl... | BeFree | 25330241 | Detail |
| 0.122 | hyperinsulinism | NA | BeFree,CTD_human | Detail | |
| 0.120 | Hyperlipidemia | NA | CTD_human | Detail | |
| <0.001 | Hyperlipidemia, Familial Combined | NA | BeFree | Detail | |
| 0.005 | Hyperplasia | NA | LHGDN | Detail | |
| 0.008 | Hypertensive disease | NA | BeFree,GAD | Detail | |
| 0.002 | Inflammation | NA | GAD | Detail | |
| 0.141 | Insulin resistance | NA | CTD_human,GAD | Detail | |
| 0.082 | Kidney Failure, Chronic | NA | GAD,RGD | Detail | |
| 0.002 | Premature Obstetric Labor | NA | GAD | Detail | |
| 0.002 | Liver diseases | NA | GAD | Detail | |
| <0.001 | Liver neoplasms | NA | BeFree | Detail | |
| 0.002 | Chronic Obstructive Airway Disease | NA | GAD | Detail | |
| <0.001 | medulloblastoma | NA | BeFree | Detail | |
| <0.001 | melanoma | NA | BeFree | Detail | |
| <0.001 | Mesothelioma | MicroRNA-126 suppresses mesothelioma malignancy by targeting IRS1 and interferin... | BeFree | 24444362 | Detail |
| <0.001 | Metabolic Diseases | NA | BeFree | Detail | |
| 0.002 | multiple myeloma | NA | GAD | Detail | |
| <0.001 | muscular atrophy | NA | BeFree | Detail | |
| 0.002 | Neoplasm Metastasis | NA | BeFree | Detail | |
| 0.087 | Metabolic syndrome X | In this study we found support for the hypothesis that weight regulation and ins... | BeFree | 23101478 | Detail |
| 0.218 | obesity | The interaction between APPL1 and IR depends on insulin- or adiponectin-stimulat... | BeFree,CTD_human,GAD,RGD | 24813896 | Detail |
| 0.218 | obesity | A significant effect of interaction of carrying both IRS-1 Gly/Arg and IRS-2 Asp... | BeFree,CTD_human,GAD,RGD | 25310961 | Detail |
| 0.218 | obesity | Results of this study provide evidence that obesity affects the expression of th... | BeFree,CTD_human,GAD,RGD | 26040030 | Detail |
| 0.080 | osteoporosis | NA | RGD | Detail | |
| <0.001 | osteosarcoma | NA | BeFree | Detail | |
| <0.001 | ovarian carcinoma | NA | BeFree | Detail | |
| 0.003 | Ovarian Diseases | NA | BeFree | Detail | |
| 0.005 | Pancreatic Neoplasm | NA | GAD,LHGDN | Detail | |
| 0.044 | polycystic ovary syndrome | In type 2 diabetes, obesity and PCOS, there is, although with some variation fro... | BeFree,GAD,LHGDN | 25123125 | Detail |
| 0.044 | polycystic ovary syndrome | In this study, we found significant association of the variant of IRS-2 gene as ... | BeFree,GAD,LHGDN | 25310961 | Detail |
| 0.005 | pre-eclampsia | NA | GAD | Detail | |
| 0.120 | Precancerous Conditions | NA | CTD_human | Detail | |
| 0.125 | Prostatic Neoplasms | NA | CTD_human,LHGDN | Detail | |
| 0.005 | Precocious Puberty | NA | BeFree,GAD | Detail | |
| <0.001 | rhabdomyosarcoma | NA | BeFree | Detail | |
| 0.002 | schizophrenia | NA | GAD | Detail | |
| 0.627 | Diabetes Mellitus, Non-Insulin-Dependent | By using a Cox proportional hazard model, common variants in the PPARG (P12A), C... | BeFree | 17570749 | Detail |
| <0.001 | progressive supranuclear palsy | IRS1-pS(616), IRS1-pS(312) and downstream target Akt-pS(473) measures were most ... | BeFree | 25107476 | Detail |
| <0.001 | thymoma | NA | BeFree | Detail | |
| 0.003 | tuberous sclerosis | NA | LHGDN | Detail | |
| <0.001 | corneal neovascularization | NA | BeFree | Detail | |
| 0.005 | gestational diabetes | Insulin receptor substrate-1 (IRS-1) Gly927Arg: correlation with gestational dia... | BeFree,GAD | 24695443 | Detail |
| 0.005 | gestational diabetes | Relationship between melatonin receptor 1B and insulin receptor substrate 1 poly... | BeFree,GAD | 25146448 | Detail |
| <0.001 | essential hypertension | NA | BeFree | Detail | |
| <0.001 | Agitation | Of the proteins screened in the reverse-phase protein array, we found that insul... | BeFree | 26100015 | Detail |
| 0.002 | Premature Birth | NA | GAD | Detail | |
| <0.001 | acute myocardial infarction | NA | BeFree | Detail | |
| <0.001 | LEOPARD Syndrome | NA | BeFree | Detail | |
| <0.001 | Tumor Progression | NA | BeFree | Detail | |
| 0.008 | hyperandrogenism | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | adrenocortical carcinoma | NA | BeFree | Detail | |
| <0.001 | uveal melanoma | MicroRNA 145 may play an important role in uveal melanoma cell growth by potenti... | BeFree | 24762580 | Detail |
| <0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
| <0.001 | Pick Disease of the Brain | IRS1-pS(616), IRS1-pS(312) and downstream target Akt-pS(473) measures were most ... | BeFree | 25107476 | Detail |
| <0.001 | Dyslipidemias | NA | BeFree | Detail | |
| 0.003 | Malignant neoplasm of lung | AFB1 downregulates IRS1 but paradoxically upregulates IRS2 through positive regu... | BeFree,GAD | 25820822 | Detail |
| 0.080 | Sepsis | NA | RGD | Detail | |
| 0.003 | Impaired glucose tolerance | NA | BeFree,GAD | Detail | |
| <0.001 | Squamous cell carcinoma of esophagus | Insulin receptor substrate-1 and Golgi phosphoprotein 3 are downstream targets o... | BeFree | 25017784 | Detail |
| <0.001 | Solid tumour | NA | BeFree | Detail | |
| <0.001 | Impaired cognition | NA | BeFree | Detail | |
| 0.003 | Precocious pubarche | NA | BeFree,GAD | Detail | |
| <0.001 | Depletion of mitochondrial DNA | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of pancreas | NA | BeFree | Detail | |
| 0.008 | Malignant neoplasm of prostate | Demonstration that IRS expression can be increased in response to a variety of s... | BeFree,GAD | 25267499 | Detail |
| 0.081 | Non-alcoholic Fatty Liver Disease | Toll-like receptor (1-10), myeloid differentiation primary response gene (MyD88)... | BeFree,RGD | 24351080 | Detail |
| <0.001 | Secondary malignant neoplasm of liver | NA | BeFree | Detail | |
| <0.001 | Overweight | NA | BeFree | Detail | |
| 0.005 | body mass | NA | GAD | Detail | |
| 0.005 | Sleep Apnea, Obstructive | NA | BeFree,GAD,LHGDN | Detail | |
| 0.087 | Metabolic syndrome X | NA | BeFree,GAD,RGD | Detail | |
| <0.001 | Osteosarcoma of bone | NA | BeFree | Detail | |
| 0.001 | Carcinogenesis | Overexpression of IRS-1 was associated with cell differentiation, whereas GOLPH3... | BeFree | 25017784 | Detail |
| <0.001 | Tumor Initiation | NA | BeFree | Detail | |
| 0.001 | prostate carcinoma | Demonstration that IRS expression can be increased in response to a variety of s... | BeFree | 25267499 | Detail |
| 0.009 | breast carcinoma | We find that the upregulation of IRS1 function is both necessary and sufficient ... | BeFree | 26100015 | Detail |
| <0.001 | Carcinoma of lung | AFB1 downregulates IRS1 but paradoxically upregulates IRS2 through positive regu... | BeFree | 25820822 | Detail |
| <0.001 | Secondary malignant neoplasm of lymph node | Overexpression of IRS-1 was associated with cell differentiation, whereas GOLPH3... | BeFree | 25017784 | Detail |
| 0.001 | colon carcinoma | NA | BeFree | Detail | |
| <0.001 | malignant pleural mesothelioma | NA | BeFree | Detail | |
| <0.001 | Endothelial dysfunction | NA | BeFree | Detail | |
| <0.001 | ovarian neoplasm | NA | BeFree | Detail | |
| 0.002 | Microsatellite Instability | NA | GAD | Detail | |
| <0.001 | cancer recurrence | NA | BeFree | Detail | |
| <0.001 | Acute coronary syndrome | NA | BeFree | Detail | |
| <0.001 | Tauopathies | Abnormal serine phosphorylation of insulin receptor substrate 1 is associated wi... | BeFree | 25107476 | Detail |
| <0.001 | Malignant neoplasm of ovary | NA | BeFree | Detail | |
| 0.005 | Systemic arterial pressure | NA | GAD | Detail | |
| <0.001 | Liver regeneration disorder | This results in activation of JNK and as a consequence in Ser-phosphorylation of... | BeFree | 25445396 | Detail |
| <0.001 | Pleural Mesothelioma | NA | BeFree | Detail | |
| 0.015 | Mammary Neoplasms | Type 1 Insulin-Like Growth Factor Receptor/Insulin Receptor Substrate 1 Signalin... | BeFree,GAD,LHGDN | 26100015 | Detail |
| <0.001 | Breast Cancer Model | NA | BeFree | Detail | |
| <0.001 | Cancer Cell Growth | NA | BeFree | Detail | |
| <0.001 | Tumor Angiogenesis | NA | BeFree | Detail | |
| 0.014 | colorectal cancer | Given the role of insulin resistance in colorectal cancer (CRC), we explored whe... | BeFree,GAD | 25557790 | Detail |
| 0.014 | colorectal cancer | Loss of IRS1 expression was identified in 31% of the CRCs. | BeFree,GAD | 25776026 | Detail |
| <0.001 | Adenocarcinoma, Endometrioid | NA | BeFree | Detail | |
| 0.127 | coronary artery disease | NA | BeFree,CTD_human,GAD | Detail | |
| 0.123 | liver carcinoma | NA | BeFree,CTD_human | Detail | |
| 0.002 | Infection of amniotic sac and membranes, unspecified, unspecified trimester, not applicable or unspecified | NA | GAD | Detail | |
| <0.001 | Insulin resistance syndrome | NA | BeFree | Detail | |
| 0.002 | adenocarcinoma | NA | GAD | Detail | |
| <0.001 | adenoma | NA | BeFree | Detail | |
| 0.002 | congenital adrenal hyperplasia | NA | GAD | Detail | |
| 0.005 | gestational diabetes | The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A,... | BeFree | 23690305 | Detail |
| 0.085 | Alzheimer's disease | Abnormal serine phosphorylation of insulin receptor substrate 1 is associated wi... | BeFree,GAD,RGD | 25107476 | Detail |
| <0.001 | arteriosclerosis | NA | BeFree | Detail | |
| <0.001 | rheumatoid arthritis | In conclusion, the present study provided the first evidence, to the best of our... | BeFree | 25760103 | Detail |
| <0.001 | ataxia telangiectasia | NA | BeFree | Detail | |
| <0.001 | atherosclerosis | NA | BeFree | Detail | |
| 0.002 | Malignant neoplasm of urinary bladder | NA | GAD | Detail | |
| 0.019 | Malignant neoplasm of breast | We find that the upregulation of IRS1 function is both necessary and sufficient ... | BeFree,GAD | 26100015 | Detail |
| 0.003 | Malignant tumor of colon | NA | BeFree,GAD | Detail | |
| <0.001 | Rectal Carcinoma | NA | BeFree | Detail | |
| <0.001 | Noninfiltrating Intraductal Carcinoma | NA | BeFree | Detail | |
| <0.001 | Non-small cell lung carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Given the role of insulin resistance in colorectal cancer (CRC), we explored whether genetic variant... | DisGeNET | Detail |
| Loss of IRS1 expression was identified in 31% of the CRCs. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | 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 |
| γ₁34.5-deleted HSV-1-expressing human cytomegalovirus IRS1 gene kills human glioblastoma cells as ef... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| γ₁34.5-deleted HSV-1-expressing human cytomegalovirus IRS1 gene kills human glioblastoma cells as ef... | DisGeNET | Detail |
| This was also consistent with lack of IRS-1 phosphorylation on Ser-24 in hyperglycemia-induced insul... | 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 |
| MicroRNA-126 suppresses mesothelioma malignancy by targeting IRS1 and interfering with the mitochond... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In this study we found support for the hypothesis that weight regulation and insulin metabolism are ... | DisGeNET | Detail |
| The interaction between APPL1 and IR depends on insulin- or adiponectin-stimulated APPL1 phosphoryla... | 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 |
| In type 2 diabetes, obesity and PCOS, there is, although with some variation from study to study, de... | DisGeNET | Detail |
| In this study, we found significant association of the variant of IRS-2 gene as well as the interact... | 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 |
| IRS1-pS(616), IRS1-pS(312) and downstream target Akt-pS(473) measures were most elevated in AD but w... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Insulin receptor substrate-1 (IRS-1) Gly927Arg: correlation with gestational diabetes mellitus in Sa... | DisGeNET | Detail |
| Relationship between melatonin receptor 1B and insulin receptor substrate 1 polymorphisms with gesta... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Of the proteins screened in the reverse-phase protein array, we found that insulin receptor substrat... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| MicroRNA 145 may play an important role in uveal melanoma cell growth by potentially targeting insul... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| IRS1-pS(616), IRS1-pS(312) and downstream target Akt-pS(473) measures were most elevated in AD but w... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| AFB1 downregulates IRS1 but paradoxically upregulates IRS2 through positive regulation of the stabil... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Insulin receptor substrate-1 and Golgi phosphoprotein 3 are downstream targets of miR‑126 in esophag... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Demonstration that IRS expression can be increased in response to a variety of stressors that may le... | DisGeNET | Detail |
| Toll-like receptor (1-10), myeloid differentiation primary response gene (MyD88), interferon regulat... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Overexpression of IRS-1 was associated with cell differentiation, whereas GOLPH3 was related to lymp... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Demonstration that IRS expression can be increased in response to a variety of stressors that may le... | DisGeNET | Detail |
| We find that the upregulation of IRS1 function is both necessary and sufficient for enhanced signali... | DisGeNET | Detail |
| AFB1 downregulates IRS1 but paradoxically upregulates IRS2 through positive regulation of the stabil... | DisGeNET | Detail |
| Overexpression of IRS-1 was associated with cell differentiation, whereas GOLPH3 was related to lymp... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Abnormal serine phosphorylation of insulin receptor substrate 1 is associated with tau pathology in ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| This results in activation of JNK and as a consequence in Ser-phosphorylation of IRS-1, which is kno... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Type 1 Insulin-Like Growth Factor Receptor/Insulin Receptor Substrate 1 Signaling Confers Pathogenic... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Given the role of insulin resistance in colorectal cancer (CRC), we explored whether genetic variant... | DisGeNET | Detail |
| Loss of IRS1 expression was identified in 31% of the CRCs. | 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 minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A, GCK), rs5219 (E23K,... | DisGeNET | Detail |
| Abnormal serine phosphorylation of insulin receptor substrate 1 is associated with tau pathology in ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In conclusion, the present study provided the first evidence, to the best of our knowledge, that ins... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We find that the upregulation of IRS1 function is both necessary and sufficient for enhanced signali... | 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
- rs17782312 dbSNP
- Genome
- hg19
- Position
- chr2:227,596,028-227,664,536
- Variant Type
- snv
Genome browser