Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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3482
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Insulin like growth factor 2 receptor |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
IGF2R |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
CD222, CI-M6PR, CIMPR, M6P-R, M6P/IGF2R, MPR 300, MPR1, MPR300, MPRI |
Chromosome
Chromosome number
|
6 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
6q25.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate. The binding sites for each ligand are located on different segments of the protein. This receptor has various functions, including in the intracellular trafficking |
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Alzheimer disease |
Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset |
rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316 View all (65 more) |
15750215 |
Congenital diaphragmatic hernia |
Congenital diaphragmatic hernia |
rs121908602, rs121908604, rs864309713, rs775394591 |
21433279, 20620343 |
Coronary artery disease |
Coronary Artery Disease |
rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537 |
29212778 |
Kidney disease |
Chronic Kidney Diseases |
rs74315342, rs749740335, rs757649673, rs112417755, rs35138315 |
29545352 |
Parkinson disease |
Parkinson Disease |
rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121918104, rs1589451049, rs104893877, rs104893878, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106 View all (84 more) |
19276553 |
Prostate cancer |
Malignant neoplasm of prostate |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
29610475 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Myocardial Infarction |
Myocardial Infarction |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenocarcinoma |
Associate
|
17399767, 19626700 |
Adrenocortical Carcinoma |
Associate
|
30838516 |
Alcoholism |
Associate
|
18616667 |
Alzheimer Disease |
Associate
|
33704916 |
Anemia Aplastic |
Associate
|
39179703 |
Arterial Occlusive Diseases |
Stimulate
|
11854734 |
Autoimmune Diseases |
Associate
|
10594701 |
Beckwith Wiedemann Syndrome |
Associate
|
26505556 |
Birt Hogg Dube Syndrome |
Stimulate
|
33143702 |
Breast Neoplasms |
Associate
|
12149131, 19435860, 20347606, 26458823, 36140725, 37684436, 8286193, 9413941 |
Carcinogenesis |
Associate
|
12149131, 17850746, 9294214 |
Carcinoma Ductal Breast |
Associate
|
9413941 |
Carcinoma Hepatocellular |
Associate
|
18322954, 23071652, 33495404, 7639583, 9294214, 9413941 |
Carcinoma Intraductal Noninfiltrating |
Associate
|
26718977 |
Carcinoma Non Small Cell Lung |
Associate
|
25402559 |
Carcinoma Squamous Cell |
Associate
|
23347038 |
Cardiomyopathy Hypertrophic |
Inhibit
|
23498131 |
Cardiovascular Diseases |
Associate
|
30642433 |
Ceroid lipofuscinosis neuronal 5 |
Associate
|
22431521 |
Chediak Higashi Syndrome |
Associate
|
26478006 |
Chemical and Drug Induced Liver Injury |
Associate
|
33595041 |
Colorectal Neoplasms |
Associate
|
22377707 |
COVID 19 |
Stimulate
|
32894568 |
Dementia |
Associate
|
30642433 |
Diabetes Gestational |
Associate
|
31424259 |
Diabetes Mellitus Type 2 |
Associate
|
25867398, 25922844 |
Dysplastic Nevus Syndrome |
Associate
|
9294214 |
Endometrial Neoplasms |
Associate
|
17399767 |
Esophageal Neoplasms |
Associate
|
19626700 |
Fetal Growth Retardation |
Associate
|
20104244 |
Glioblastoma |
Associate
|
26956052, 27770278 |
Head and Neck Neoplasms |
Associate
|
12589712, 39619326 |
Heart Failure |
Associate
|
37684436 |
Hepatitis C |
Associate
|
16627984 |
HIV Infections |
Associate
|
25890304 |
Idiopathic Noncirrhotic Portal Hypertension |
Inhibit
|
12618883 |
Idiopathic Noncirrhotic Portal Hypertension |
Associate
|
9294214 |
Insulin Resistance |
Associate
|
11283790, 25922844 |
Laryngeal Neoplasms |
Associate
|
36299463 |
Liver Cirrhosis |
Associate
|
9294214 |
Liver Diseases |
Associate
|
9294214 |
Liver Neoplasms |
Associate
|
9294214 |
Lung Neoplasms |
Associate
|
12142546, 30642433 |
Lymphoma Primary Effusion |
Associate
|
30541844 |
Melanoma |
Associate
|
19414391, 21109473, 34571863 |
Metabolic Syndrome |
Inhibit
|
25867398 |
Metabolic Syndrome |
Associate
|
25867398, 34093434 |
Microcephalic Osteodysplastic Primordial Dwarfism Type II |
Associate
|
37569667 |
Multiple Myeloma |
Associate
|
8896422 |
Myasthenia Gravis |
Associate
|
35802752 |
Mycoses |
Associate
|
28713781 |
Neoplasm Metastasis |
Associate
|
21109473, 23347038 |
Neoplasms |
Associate
|
10446221, 12142546, 12149131, 12857727, 16432260, 18322954, 19414391, 19626700, 20347606, 20416304, 22377707, 22849543, 23347038, 24637962, 25402559 |
Neoplasms |
Inhibit
|
12589712, 17475626, 17850746, 19435860, 22681933, 31748500, 36140725 |
Neoplasms |
Stimulate
|
36299463 |
Osteogenesis Imperfecta Type VII |
Associate
|
23347038 |
Osteosarcoma |
Associate
|
21751203 |
Ovarian Diseases |
Associate
|
21846690 |
Ovarian Neoplasms |
Associate
|
16432260, 22849543, 36722270 |
Pancreatic Neoplasms |
Associate
|
20416304 |
Parkinson Disease |
Associate
|
24152121 |
Polycystic Ovary Syndrome |
Associate
|
22904171 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Stimulate
|
22878902 |
Prostatic Neoplasms |
Associate
|
31337649 |
Puberty Precocious |
Associate
|
30249230 |
Sarcoma Kaposi |
Associate
|
30541844 |
Skin Neoplasms |
Associate
|
37562257 |
Squamous Cell Carcinoma of Head and Neck |
Associate
|
12589712 |
Stomach Neoplasms |
Associate
|
19626700, 25329677 |
Thymoma |
Associate
|
35802752 |
Tuberculosis Multidrug Resistant |
Associate
|
30939201 |
Turcot syndrome |
Associate
|
10861262 |
Uterine Cervical Neoplasms |
Stimulate
|
31748500 |
|