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Aliases for IGF2R Gene

Aliases for IGF2R Gene

  • Insulin-Like Growth Factor 2 Receptor 2 3 4
  • MPRI 3 4 6
  • Cation-Independent Mannose-6 Phosphate Receptor 2 3
  • Insulin-Like Growth Factor II Receptor 3 4
  • 300 KDa Mannose 6-Phosphate Receptor 3 4
  • CI Man-6-P Receptor 3 4
  • M6P/IGF2 Receptor 3 4
  • IGF-II Receptor 3 4
  • M6P/IGF2R 3 4
  • MPR 300 3 4
  • CI-MPR 3 4
  • M6PR 3 4
  • Cation-Independent Mannose-6-Phosphate Receptor 3
  • CD222 Antigen 4
  • CD222 3
  • CIMPR 3
  • M6P-R 3
  • MPR1 3

External Ids for IGF2R Gene

Previous GeneCards Identifiers for IGF2R Gene

  • GC06P159829
  • GC06P160263
  • GC06P160299
  • GC06P160360
  • GC06P160310
  • GC06P160390
  • GC06P157860

Summaries for IGF2R Gene

Entrez Gene Summary for IGF2R Gene

  • This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate, although the binding sites for either are located on different segments of the receptor. This receptor functions in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. While the related mouse gene shows exclusive expression from the maternal allele, imprinting of the human gene appears to be polymorphic, with only a minority of individuals showing expression from the maternal allele. [provided by RefSeq, Apr 2013]

GeneCards Summary for IGF2R Gene

IGF2R (Insulin-Like Growth Factor 2 Receptor) is a Protein Coding gene. Diseases associated with IGF2R include hepatocellular carcinoma and simpson-golabi-behmel syndrome. Among its related pathways are ERK Signaling and GPCR Pathway. GO annotations related to this gene include identical protein binding and transporter activity.

UniProtKB/Swiss-Prot for IGF2R Gene

  • Transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes. Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelyosomal compartment where the low pH mediates the dissociation of the complex. This receptor also binds IGF2. Acts as a positive regulator of T-cell coactivation, by binding DPP4.

Tocris Summary for IGF2R Gene

  • Insulin receptors (IRs) and insulin-like growth factor receptors (IGFRs) are formed from two subunits, each of which is comprised of an extracellular alpha-subunit and a transmembrane beta-subunit with intracellular tyrosine kinase activity. IR homodimers are activated by insulin and in adults, mediate an increase in glucose uptake through upregulation of Glut4 expression. Two isoforms of the IR exist; fetal IR-A and adult IR-B. IGF1R homodimers are activated by IGF-I and IGF-II and mediate pre- and postnatal growth. IGF2R sequesters IGF-II and acts to regulate its levels. IR-IGF1R heterodimers exist and, like IGF1R homodimers, are activated by IGF-I and IGF-II. IRs and IGFRs mediate their intracellular actions through the PI 3-K and RAS/RAF/MAPK signaling pathways and downstream effectors include mTOR, p70 S6 kinase, ERK and JNK. Many tumors have altered expression of IGF1R and its ligands and this constitutes an early, possible initiating, event in tumorigenesis. Decreases in IR signaling causing insulin resistance is a major component in the development of type 2 diabetes and congenital mutations in the IR can cause the fatal Donohue syndrome.

Gene Wiki entry for IGF2R Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IGF2R Gene

Genomics for IGF2R Gene

Regulatory Elements for IGF2R Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for IGF2R Gene

Start:
159,969,099 bp from pter
End:
160,113,507 bp from pter
Size:
144,409 bases
Orientation:
Plus strand

Genomic View for IGF2R Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IGF2R Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IGF2R Gene

Proteins for IGF2R Gene

  • Protein details for IGF2R Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11717-MPRI_HUMAN
    Recommended name:
    Cation-independent mannose-6-phosphate receptor
    Protein Accession:
    P11717
    Secondary Accessions:
    • Q7Z7G9
    • Q96PT5

    Protein attributes for IGF2R Gene

    Size:
    2491 amino acids
    Molecular mass:
    274375 Da
    Quaternary structure:
    • Binds HA-I and HA-II plasma membrane adapters (By similarity). Interacts with DPP4; the interaction is direct. Binds GGA1, GGA2 and GGA3.

    Three dimensional structures from OCA and Proteopedia for IGF2R Gene

neXtProt entry for IGF2R Gene

Proteomics data for IGF2R Gene at MOPED

Post-translational modifications for IGF2R Gene

  • Glycosylation at Asn112, Asn400, Asn435, Asn543, Asn581, Asn626, Asn747, Asn871, Asn951, Asn957, Asn1164, Asn1246, Asn1312, Asn1656, Asn1757, Asn1816, Asn2085, and Asn2136
  • Modification sites at PhosphoSitePlus

Other Protein References for IGF2R Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for IGF2R (IGF2R)

No data available for DME Specific Peptides for IGF2R Gene

Domains for IGF2R Gene

Gene Families for IGF2R Gene

HGNC:
  • CD :CD molecules

Graphical View of Domain Structure for InterPro Entry

P11717

UniProtKB/Swiss-Prot:

MPRI_HUMAN :
  • P11717
Domain:
  • Contains 15 repeating units of approximately 147 AA harboring four disulfide bonds each. The most highly conserved region within the repeat consists of a stretch of 13 AA that contains cysteines at both ends
  • Contains 1 fibronectin type-II domain.
Family:
  • Belongs to the MRL1/IGF2R family.
genes like me logo Genes that share domains with IGF2R: view

Function for IGF2R Gene

Molecular function for IGF2R Gene

GENATLAS Biochemistry: insulin-like growth factor 2,300kDa,non mitogenic receptor interacting with retinoic acid,targetting IGF2 to the lysosomes for degradation,imprinted in a proportion of normal individuals,involved in suppression of breast,tumor and promyelocytic leukemia (see TSG6C) and gastric carcinomas,mutated in endometrial atypical hyperplasia and other cancers (alteration of ligand binding)
UniProtKB/Swiss-Prot Function: Transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes. Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelyosomal compartment where the low pH mediates the dissociation of the complex. This receptor also binds IGF2. Acts as a positive regulator of T-cell coactivation, by binding DPP4.

Gene Ontology (GO) - Molecular Function for IGF2R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001948 glycoprotein binding IDA 10900005
GO:0001965 G-protein alpha-subunit binding IEA --
GO:0001972 retinoic acid binding IEA --
GO:0004872 receptor activity TAS 7753549
GO:0004930 G-protein coupled receptor activity IEA --
genes like me logo Genes that share ontologies with IGF2R: view
genes like me logo Genes that share phenotypes with IGF2R: view

Animal Models for IGF2R Gene

MGI Knock Outs for IGF2R:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IGF2R

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for IGF2R Gene

Localization for IGF2R Gene

Subcellular locations from UniProtKB/Swiss-Prot for IGF2R Gene

Lysosome membrane; Single-pass type I membrane protein. Note=Colocalized with DPP4 in internalized cytoplasmic vesicles adjacent to the cell surface.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IGF2R Gene COMPARTMENTS Subcellular localization image for IGF2R gene
Compartment Confidence
endosome 5
golgi apparatus 5
lysosome 5
vacuole 5
plasma membrane 4
extracellular 2
nucleus 2
cytoskeleton 1
cytosol 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for IGF2R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0005634 nucleus --
GO:0005641 nuclear envelope lumen IEA --
GO:0005737 cytoplasm --
GO:0005764 lysosome --
genes like me logo Genes that share ontologies with IGF2R: view

Pathways for IGF2R Gene

genes like me logo Genes that share pathways with IGF2R: view

Pathways by source for IGF2R Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Cancer Drug Resistance in human,mouse,rat
    • G Protein Coupled Receptors 384HT in human,mouse,rat
    • Oncogenes & Tumor Suppressor Genes in human,mouse,rat

Gene Ontology (GO) - Biological Process for IGF2R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001889 liver development IEA --
GO:0006810 transport --
GO:0006898 receptor-mediated endocytosis TAS 10799489
GO:0007165 signal transduction TAS 7753549
GO:0007186 G-protein coupled receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with IGF2R: view

Compounds for IGF2R Gene

(5) Tocris Compounds for IGF2R Gene

Compound Action Cas Number
BMS 536924 Dual IR/IGF1R inhibitor [468740-43-4]
Demethylasterriquinone B1 Selective insulin RTK activator [78860-34-1]
Insulin (human) recombinant Endogenous peptide agonist [11061-68-0]
NVP ADW 742 ATP-competitive inhibitor of IGF1R [475488-23-4]
Picropodophyllotoxin Selective IGF1R inhibitor [477-47-4]

(1) HMDB Compounds for IGF2R Gene

Compound Synonyms Cas Number PubMed IDs
Mannose 6-phosphate
  • D-Mannose 6-phosphate
3672-15-9

(3) Drugbank Compounds for IGF2R Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Alpha-D-Mannose
3458-28-4 target
Alpha-D-Mannose-6-Phosphate
target
Mecasermin
68562-41-4 target

(33) Novoseek inferred chemical compound relationships for IGF2R Gene

Compound -log(P) Hits PubMed IDs
mannose 6-phosphate 98.1 199
perillyl alcohol 60.8 1
u18666a 59.6 8
mononucleotide 59.2 6
proliferin 57.4 1
genes like me logo Genes that share compounds with IGF2R: view

Transcripts for IGF2R Gene

Unigene Clusters for IGF2R Gene

Insulin-like growth factor 2 receptor:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IGF2R

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for IGF2R

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for IGF2R Gene

No ASD Table

Relevant External Links for IGF2R Gene

GeneLoc Exon Structure for
IGF2R
ECgene alternative splicing isoforms for
IGF2R

Expression for IGF2R Gene

mRNA expression in normal human tissues for IGF2R Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IGF2R Gene

This gene is overexpressed in Whole Blood (4.9) and Muscle - Skeletal (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for IGF2R Gene

SOURCE GeneReport for Unigene cluster for IGF2R Gene Hs.487062

genes like me logo Genes that share expressions with IGF2R: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for IGF2R Gene

Orthologs for IGF2R Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for IGF2R Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IGF2R 35
  • 99.23 (n)
  • 99.27 (a)
IGF2R 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IGF2R 35
  • 79.36 (n)
  • 81.35 (a)
IGF2R 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CI-MPR/IGF2R 36
  • 86 (a)
OneToOne
IGF2R 35
  • 83.92 (n)
  • 85.94 (a)
mouse
(Mus musculus)
Mammalia Igf2r 35
  • 80.5 (n)
  • 81.76 (a)
Igf2r 16
Igf2r 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IGF2R 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 65 (a)
OneToMany
-- 36
  • 40 (a)
OneToMany
-- 36
  • 72 (a)
OneToMany
M6P/IGF2R 36
  • 54 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Igf2r 35
  • 81 (n)
  • 81.46 (a)
chicken
(Gallus gallus)
Aves IGF2R 35
  • 64.4 (n)
  • 61.04 (a)
IGF2R 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 57 (a)
OneToMany
-- 36
  • 55 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.2029 35
tropical clawed frog
(Silurana tropicalis)
Amphibia igf2r 35
  • 60.3 (n)
  • 55.87 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5040 35
zebrafish
(Danio rerio)
Actinopterygii igf2r 35
  • 58.72 (n)
  • 53.51 (a)
igf2r 36
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Lerp 36
  • 27 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MRL1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
OneToOne
Species with no ortholog for IGF2R:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IGF2R Gene

ENSEMBL:
Gene Tree for IGF2R (if available)
TreeFam:
Gene Tree for IGF2R (if available)

Paralogs for IGF2R Gene

No data available for Paralogs for IGF2R Gene

Variants for IGF2R Gene

Sequence variations from dbSNP and Humsavar for IGF2R Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs14531 -- 160,106,476(+) ATTTT(G/T)CTCTT utr-variant-3-prime
rs384167 -- 160,055,235(-) ACAGA(C/T)GTGCC intron-variant
rs399919 -- 160,034,988(+) GGTGC(A/G)TTGAA intron-variant
rs402363 -- 160,071,149(-) GGGTC(C/T)TGGGC intron-variant
rs404209 -- 160,071,149(-) GGTCT(G/T)GGGCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IGF2R Gene

Variant ID Type Subtype PubMed ID
nsv5564 CNV Insertion 18451855
dgv2024e1 CNV Complex 17122850
esv35098 CNV Gain 17911159
esv2664271 CNV Deletion 23128226
nsv818463 CNV Gain 17921354
esv28288 CNV Loss 19812545
esv1551954 CNV Insertion 17803354
esv2733038 CNV Deletion 23290073
esv2733039 CNV Deletion 23290073
esv1707140 CNV Deletion 17803354
esv1004150 CNV Deletion 20482838
esv23071 CNV Loss 19812545
esv2733041 CNV Deletion 23290073
esv2733042 CNV Deletion 23290073
esv2733043 CNV Deletion 23290073
esv2733044 CNV Deletion 23290073
esv2733045 CNV Deletion 23290073

Relevant External Links for IGF2R Gene

HapMap Linkage Disequilibrium report
IGF2R
Human Gene Mutation Database (HGMD)
IGF2R

PCR Panel Products

  • Copy Number PCR Panels: for IGF2R

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IGF2R Gene

Disorders for IGF2R Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for IGF2R Gene including...

Search for IGF2R Gene in MalaCards »

(1) OMIM Diseases for IGF2R Gene (147280)

(1) University of Copenhagen DISEASES for IGF2R Gene

(37) Novoseek inferred disease relationships for IGF2R Gene

Disease -log(P) Hits PubMed IDs
i-cell disease 74.3 3
microsatellite instability 65.4 7
pompe disease 50.3 2
allelic loss 43.9 1
tumors 39.9 57

Relevant External Links for IGF2R

Genetic Association Database (GAD)
IGF2R
Human Genome Epidemiology (HuGE) Navigator
IGF2R
genes like me logo Genes that share disorders with IGF2R: view

No data available for UniProtKB/Swiss-Prot for IGF2R Gene

Publications for IGF2R Gene

  1. Internalization of CD26 by mannose 6-phosphate/insulin-like growth factor II receptor contributes to T cell activation. (PMID: 10900005) Ikushima H. … Morimoto C. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 4 23
  2. Lack of association of birth size with polymorphisms of two imprinted genes, IGF2R and GRB10. (PMID: 15506681) Kukuvitis A. … Polychronakos C. (J. Pediatr. Endocrinol. Metab. 2004) 3 23 48
  3. Genetic variation in the type 2 insulin-like growth factor receptor gene and disparity in childhood height. (PMID: 16172012) Petry C.J. … Dunger D.B. (Growth Horm. IGF Res. 2005) 3 23 48
  4. Analysis of genes critical for growth regulation identifies Insulin-like Growth Factor 2 Receptor variations with possible functional significance as risk factors for osteosarcoma. (PMID: 17684144) Savage S.A. … Chanock S.J. (Cancer Epidemiol. Biomarkers Prev. 2007) 3 23 48
  5. The 3' UTR IGF2R-A2/B2 variant is associated with increased tumor growth and advanced stages in non-small cell lung cancer. (PMID: 18037232) Kotsinas A. … Gorgoulis V.G. (Cancer Lett. 2008) 3 23 48

Products for IGF2R Gene

  • antibodies-online proteins for IGF2R
  • antibodies-online antibodies for IGF2R
  • antibodies-online kits for IGF2R

Sources for IGF2R Gene

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