IGF2R - insulin like growth factor 2 receptor Gene
Also Known as MPR1; MPRI; CD222; CIMPR; M6P-R; MPR300; CI-M6PR; MPR 300; M6P/IGF2R
Species: Homo sapiens
About IGF2R
This gene has 11 transcripts (splice variants), 203 orthologues and is associated with 1 phenotype. Ubiquitous expression in spleen (RPKM 12.4), fat (RPKM 11.5) and 25 other tissues.
Summary
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 of lysosomal Enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. Mutation or loss of heterozygosity of this gene has been association with risk of hepatocellular carcinoma. The orthologous mouse gene is imprinted and shows exclusive expression from the maternal allele; however, imprinting of the human gene may be polymorphic, as only a minority of individuals showed biased expression from the maternal allele (PMID:8267611). [provided by RefSeq, Nov 2015]
IGF2R Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000876.4 | NP_000867.3 | cation-independent mannose-6-phosphate receptor precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
22681933 | GOA |
| enables phosphoprotein binding |
IDA
IDA: Inferred from direct assay
|
10900005 | GOA |
| enables protein binding |
IDA
IDA: Inferred from direct assay
|
10900005 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
10900005 | GOA |
| enables retromer complex binding |
IDA
IDA: Inferred from direct assay
|
18817523 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in positive regulation by host of viral process |
IMP
IMP: Inferred from mutant phenotype
|
20889566 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in Golgi apparatus |
IDA
IDA: Inferred from direct assay
|
18817523 | GOA |
| located in cell surface |
IDA
IDA: Inferred from direct assay
|
10900005 | GOA |
| located in early endosome |
IMP
IMP: Inferred from mutant phenotype
|
17959629 | GOA |
| located in endocytic vesicle |
IDA
IDA: Inferred from direct assay
|
10900005 | GOA |
| located in endosome |
IDA
IDA: Inferred from direct assay
|
15078902 | GOA |
| located in endosome membrane |
IDA
IDA: Inferred from direct assay
|
18817523 | GOA |
| located in late endosome |
IDA
IDA: Inferred from direct assay
|
22456507 | GOA |
| located in trans-Golgi network |
IMP
IMP: Inferred from mutant phenotype
|
17959629 | GOA |
| located in trans-Golgi network transport vesicle |
IDA
IDA: Inferred from direct assay
|
15078902 | GOA |
IGF2R Protein Structure
CIMR: Cation-independent mannose-6-phosphate receptor repeat (127 - 265)
CIMR: Cation-independent mannose-6-phosphate receptor repeat (281 - 420)
CIMR: Cation-independent mannose-6-phosphate receptor repeat (423 - 573)
CIMR: Cation-independent mannose-6-phosphate receptor repeat (576 - 715)
CIMR: Cation-independent mannose-6-phosphate receptor repeat (723 - 875)
CIMR: Cation-independent mannose-6-phosphate receptor repeat (885 - 1023)
CIMR: Cation-independent mannose-6-phosphate receptor repeat (1032 - 1178)
CIMR: Cation-independent mannose-6-phosphate receptor repeat (1183 - 1319)
CIMR: Cation-independent mannose-6-phosphate receptor repeat (1323 - 1462)
CIMR: Cation-independent mannose-6-phosphate receptor repeat (1466 - 1599)
CIMR: Cation-independent mannose-6-phosphate receptor repeat (1607 - 1731)
CIMR: Cation-independent mannose-6-phosphate receptor repeat (1757 - 1894)
fn2: Fibronectin type II domain (1903 - 1942)
CIMR: Cation-independent mannose-6-phosphate receptor repeat (1949 - 2083)
CIMR: Cation-independent mannose-6-phosphate receptor repeat (2087 - 2197)
CIMR: Cation-independent mannose-6-phosphate receptor repeat (2239 - 2279)
- 0
- 400
- 800
- 1200
- 1600
- 2000
- 2491 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
cation-independent mannose-6-phosphate receptor |
|
IGF2R Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
IGF2R | P11717 | GGA1 | Homo sapiens | Q9UJY5 | 11390366 | |
|
Intra
|
IGF2R | P11717 | GGA3 | Homo sapiens | Q9NZ52 | 16977309 | |
|
Intra
|
IGF2R | P11717 | GGA3 | Homo sapiens | Q9NZ52 | 11387475 | |
|
Intra
|
IGF2R | P11717 | GGA1 | Homo sapiens | Q9UJY5 | 20676133 | |
|
Intra
|
IGF2R | P11717 | PACS1 | Homo sapiens | Q6VY07 | 16977309 |
Recombinant IGF2R Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P700869 | IGF2R Protein, Human (Biotinylated, HEK293, His-Avi) | P11717 (E47-M1508) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P700870 | IGF2R Protein, Human (HEK293, His-Avi) | P11717 (E47-M1508) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P700871 | IGF2R Protein, Human (Domain 1-3, HEK293, His-Avi) | P11717 (Q41-E471) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P701061 | IGF2R Protein, Human (Domain 1-7, HEK293, His-Avi) | P11717 (E47-P1079) | ≥ 95%, as determined by Bis-Tris PAGE. |
IGF2R Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81754 | IGF2R Antibody (YA1499) | WB, IHC-P, ICC/IF, IP, FC | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hepatocellular Carcinoma |
|
|
| Mucolipidosis Ii Alpha/Beta |
|
|
| Glycogen Storage Disease Ii |
|
|
| Insulin-Like Growth Factor I |
|
|
| Mannosidosis, Alpha B, Lysosomal |
|
|
| Premature Menopause |
|
|
| Scheie Syndrome |
|
|
| Congenital Disorder Of Glycosylation, Type Ib |
|
|
| Mucolipidosis Iii Gamma |
|
|
| Mucolipidosis |
|
|
| Mucolipidosis Iii Alpha/Beta |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2v |
|
|
| Fanconi Syndrome |
|
|
| Intellectual Developmental Disorder, Autosomal Dominant 46 |
|
|
| Simple Partial Epilepsy |
|
|
| Progressive Myoclonus Epilepsy 4 |
|
|
| Congenital Disorder Of Glycosylation, Type Il |
|
|
| Mucopolysaccharidosis Iii |
|
|
| Mucopolysaccharidosis, Type Iiib |
|
|
| Mucopolysaccharidosis, Type Vii |
|
|
| Mucopolysaccharidosis-Plus Syndrome |
|
|
| Type 1 Diabetes Mellitus 8 |
|
|
| Lysosomal Acid Lipase Deficiency |
|
|
| Breast Cancer |
|
|
| Hurler Syndrome |
|
|
| Mucopolysaccharidosis, Type Iva |
|
|
| Galactosialidosis |
|
|
| Lysosomal And Lipase Deficiency |
|
|
| Mucopolysaccharidosis, Type Iiia |
|
|
| Mucopolysaccharidosis, Type Ii |
|
|
| Melon Allergy |
|
|
| Mucopolysaccharidosis Iv |
|
|
| Sphingolipidosis |
|
|
| Aspartylglucosaminuria |
|
|
| Pontocerebellar Hypoplasia, Type 2e |
|
|
| Sandhoff Disease |
|
|
| Neuronal Ceroid Lipofuscinosis |
|
|
| Metachromatic Leukodystrophy |
|
|
| Cerebral Lipidosis |
|
|
| Gm2 Gangliosidosis |
|
|
| Krabbe Disease |
|
|
| Mucopolysaccharidosis, Type Vi |
|
|
| Angiokeratoma |
|
|
| Colorectal Cancer |
|
|
| Gangliosidosis |
|
|
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
|
| C Syndrome |
|
|
| Gm1 Gangliosidosis |
|
|
| Articulation Disorder |
|
|
| Gaucher'S Disease |
|
|
| Silver-Russell Syndrome 1 |
|
|
| Mucopolysaccharidosis, Type Ivb |
|
|
| Tay-Sachs Disease |
|
|
| Pancreatic Cancer |
|
|
| Stuttering |
|
|
| Niemann-Pick Disease |
|
|
| Congenital Disorder Of Glycosylation, Type In |
|
|
| Lysosomal Storage Disease |
|
|
| Rhabdomyosarcoma |
|
|
| Transient Neonatal Diabetes Mellitus |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Beckwith-Wiedemann Syndrome |
|
|
| Parkinson Disease, Late-Onset |
|
|
| Progressive Myoclonus Epilepsy |
|
|
| Hereditary Spastic Paraplegia |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | IGF2R | VGNC | VGNC:30082 |
| Macaca mulatta | IGF2R | VGNC | VGNC:73572 |
| Rattus norvegicus | IGF2R | RGD | RGD:2871 |
| Canis familiaris | IGF2R | VGNC | VGNC:41901 |
| Felis catus | IGF2R | VGNC | VGNC:67712 |
| Mus musculus | IGF2R | MGD | MGI:96435 |
| Others | IGF2R | NCBI |