IGF2R (insulin like growth factor 2 receptor)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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3482 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Insulin like growth factor 2 receptor |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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IGF2R |
SynonymsGene synonyms aliases
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CD222, CI-M6PR, CIMPR, M6P-R, M6P/IGF2R, MPR 300, MPR1, MPR300, MPRI |
ChromosomeChromosome number
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6 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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6q25.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs121434587 |
G>T |
Pathogenic |
Missense variant, coding sequence variant |
rs121434588 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
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miRNAmiRNA information provided by mirtarbase database.
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Transcription factors
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Transcription factor |
Regulation |
Reference |
USF2 |
Activation |
12857727 |
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
P11717 |
Protein name |
Cation-independent mannose-6-phosphate receptor (CI Man-6-P receptor) (CI-MPR) (M6PR) (300 kDa mannose 6-phosphate receptor) (MPR 300) (Insulin-like growth factor 2 receptor) (Insulin-like growth factor II receptor) (IGF-II receptor) (M6P/IGF2 receptor) ( |
Protein function |
Mediates the transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes (PubMed:18817523, PubMed:2963003). Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate re |
PDB |
1E6F
,
1GP0
,
1GP3
,
1GQB
,
1JPL
,
1JWG
,
1LF8
,
2CNJ
,
2L29
,
2L2A
,
2M68
,
2M6T
,
2V5N
,
2V5O
,
2V5P
,
5IEI
,
6N5X
,
6N5Y
,
6P8I
,
6V02
,
6Z30
,
6Z31
,
6Z32
,
8AFZ
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00878 |
CIMR |
123 → 270 |
Cation-independent mannose-6-phosphate receptor repeat |
Family |
PF00878 |
CIMR |
277 → 421 |
Cation-independent mannose-6-phosphate receptor repeat |
Family |
PF00878 |
CIMR |
423 → 573 |
Cation-independent mannose-6-phosphate receptor repeat |
Family |
PF00878 |
CIMR |
575 → 716 |
Cation-independent mannose-6-phosphate receptor repeat |
Family |
PF00878 |
CIMR |
720 → 876 |
Cation-independent mannose-6-phosphate receptor repeat |
Family |
PF00878 |
CIMR |
882 → 1026 |
Cation-independent mannose-6-phosphate receptor repeat |
Family |
PF00878 |
CIMR |
1031 → 1178 |
Cation-independent mannose-6-phosphate receptor repeat |
Family |
PF00878 |
CIMR |
1179 → 1320 |
Cation-independent mannose-6-phosphate receptor repeat |
Family |
PF00878 |
CIMR |
1322 → 1462 |
Cation-independent mannose-6-phosphate receptor repeat |
Family |
PF00878 |
CIMR |
1465 → 1599 |
Cation-independent mannose-6-phosphate receptor repeat |
Family |
PF00878 |
CIMR |
1603 → 1750 |
Cation-independent mannose-6-phosphate receptor repeat |
Family |
PF00878 |
CIMR |
1755 → 1894 |
Cation-independent mannose-6-phosphate receptor repeat |
Family |
PF00040 |
fn2 |
1903 → 1942 |
Fibronectin type II domain |
Domain |
PF00878 |
CIMR |
1946 → 2083 |
Cation-independent mannose-6-phosphate receptor repeat |
Family |
PF00878 |
CIMR |
2085 → 2233 |
Cation-independent mannose-6-phosphate receptor repeat |
Family |
PF00878 |
CIMR |
2237 → 2290 |
Cation-independent mannose-6-phosphate receptor repeat |
Family |
|
Sequence |
|
Sequence length |
2491 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
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, rs145518263, 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 |
15750215 |
Congenital diaphragmatic hernia |
Congenital diaphragmatic hernia |
rs121908602, rs121908604, rs864309713, rs780263938, rs756636036, rs775394591 |
21433279, 20620343 |
Coronary artery disease |
Coronary Artery Disease |
rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 |
29212778 |
Kidney disease |
Chronic Kidney Diseases |
rs74315342, rs749740335, rs757649673, rs112417755, rs35138315 |
29545352 |
Parkinson disease |
Parkinson Disease |
rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, 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 |
19276553 |
Prostate cancer |
Malignant neoplasm of prostate |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
29610475 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Posterolateral diaphragmatic hernia |
Congenital hernia of foramen of Bochdalek |
|
21433279, 20620343 |
Morgagni diaphragmatic hernia |
Congenital hernia of foramen of Morgagni |
|
21433279, 20620343 |
Kidney failure |
Kidney Failure, Chronic |
|
29545352 |
Lewy body disease |
Lewy Body Disease |
|
19276553 |
Liver carcinoma |
Liver carcinoma |
|
15057872 |
Lung diseases |
Lung diseases |
|
21433279, 20620343 |
Micronodular cirrhosis |
Micronodular cirrhosis |
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Prostatic neoplasms |
Prostatic Neoplasms |
|
29610475 |
Senile dementia |
Presenile dementia, Acute Confusional Senile Dementia |
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15750215 |
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