Free for academic non-profit institutions. Other users need a Commercial license

Aliases for IGF2R Gene

Aliases for IGF2R Gene

  • Insulin Like Growth Factor 2 Receptor 2 3 5
  • Insulin-Like Growth Factor II Receptor 3 4
  • Insulin-Like Growth Factor 2 Receptor 2 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
  • MPRI 3 4
  • Cation-Independent Mannose-6 Phosphate Receptor 2
  • Cation-Independent Mannose-6-Phosphate Receptor 3
  • CD222 Antigen 4
  • CI-M6PR 3
  • MPR300 3
  • CI-MPR 4
  • CD222 3
  • CIMPR 3
  • M6P-R 3
  • MPR1 3
  • M6PR 4

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. 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]

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 Mucolipidosis Ii Alpha/Beta. Among its related pathways are mTOR signaling pathway (KEGG) and Immune System. GO annotations related to this gene include G-protein coupled receptor activity and enzyme binding.

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.

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

Enhancers for IGF2R Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F159972 1.4 FANTOM5 ENCODE 49.6 +4.6 4610 3.0 PKNOX1 ARNT CREB3L1 ARID4B FEZF1 DMAP1 ZNF48 YY1 GATA2 FOS IGF2R WTAP SOD2 LOC729603 SLC22A1 MAS1 AIRN
GH06F159987 1.6 FANTOM5 Ensembl ENCODE 39.9 +20.0 20010 3.4 HDGF WRNIP1 GATA2 CBX5 ZNF143 JUNB REST CREB3 MEF2D SMARCA4 IGF2R MAS1 WTAP ENSG00000236823 SOD2 SLC22A1 AIRN
GH06F159966 0.7 Ensembl ENCODE 37.1 -0.4 -372 5.5 PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 FOS IGF2R MAS1 ENSG00000236823 SLC22A1 LOC729603 LOC105378087
GH06F159714 1.6 FANTOM5 Ensembl ENCODE 35.7 -252.8 -252771 3.6 PKNOX1 ARNT MLX ARID4B DMAP1 YY1 ZNF143 FOS SP5 MXD4 IGF2R MRPL18 WTAP SOD2 PNLDC1 HNRNPH1P1 RNU4ATAC18P
GH06F159996 0.4 ENCODE 33.1 +27.8 27845 0.2 CEBPB CEBPG IGF2R AIRN
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around IGF2R on UCSC Golden Path with GeneCards custom track

Promoters for IGF2R Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001232486 501 2401 PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207

Genomic Location for IGF2R Gene

Chromosome:
6
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

Genes around IGF2R on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IGF2R Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for IGF2R Gene

  • Glycosylation at Asn 112, Asn 400, Asn 435, Asn 543, Asn 581, Asn 626, Asn 747, Asn 871, Asn 951, Asn 957, Asn 1164, Asn 1246, Asn 1312, Asn 1656, Asn 1757, Asn 1816, Asn 2085, and Asn 2136
  • Modification sites at PhosphoSitePlus

Other Protein References for IGF2R Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for IGF2R (IGF2R)
  • Cloud-Clone Corp. Antibodies for IGF2R

No data available for DME Specific Peptides for IGF2R Gene

Domains & Families for IGF2R Gene

Gene Families for IGF2R Gene

Graphical View of Domain Structure for InterPro Entry

P11717

UniProtKB/Swiss-Prot:

MPRI_HUMAN :
  • 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.
  • Belongs to the MRL1/IGF2R family.
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 IEA,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

Human Phenotype Ontology for IGF2R Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IGF2R Gene

MGI Knock Outs for IGF2R:

Animal Model Products

miRNA for IGF2R Gene

miRTarBase miRNAs that target IGF2R

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
extracellular 5
golgi apparatus 5
plasma membrane 5
lysosome 4
nucleus 4
vacuole 4
cytosol 2
cytoskeleton 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 IEA --
GO:0005641 nuclear envelope lumen IEA --
GO:0005737 cytoplasm IEA --
GO:0005764 lysosome IEA --
genes like me logo Genes that share ontologies with IGF2R: view

Pathways & Interactions for IGF2R Gene

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

SIGNOR curated interactions for IGF2R Gene

Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for IGF2R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001889 liver development IEA --
GO:0006810 transport IEA --
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

Drugs & Compounds for IGF2R Gene

(21) Drugs for IGF2R Gene - From: DrugBank, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mecasermin Approved, Investigational Pharma Target 0
alpha-D-mannose 6-phosphate Experimental Pharma Target 0
Mitoglitazone Pharma Insulin sensitizer; exhibits low binding affinity at PPARgamma 0

(20) Additional Compounds for IGF2R Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Mannose 6-phosphate
  • alpha-D-Mannose-6-P
  • alpha-D-Mannose-6-phosphate
  • alpha-delta-Mannose-6-P
  • alpha-delta-Mannose-6-phosphate
  • D-Mannose 6-phosphate
3672-15-9
D-Mannose
  • (+)-mannose
  • (+-)-mannose
  • Carubinose
  • D(+)-Mannose
  • D-Mannopyranose
3458-28-4
6bK
1774353-12-6
BMS 536924
468740-43-4
Insulin (human) recombinant
11061-68-0

(5) Tocris Compounds for IGF2R Gene

Compound Action Cas Number
6bK Insulin degrading enzyme (IDE) inhibitor 1774353-12-6
BMS 536924 Dual IR/IGF1R inhibitor 468740-43-4
Insulin (human) recombinant Endogenous peptide agonist 11061-68-0
Mitoglitazone Insulin sensitizer; exhibits low binding affinity at PPARgamma 146062-49-9
Picropodophyllotoxin Selective IGF1R inhibitor 477-47-4
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:

Inhibitory RNA Products

Clone Products

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 (x4.9) and Muscle - Skeletal (x4.6).

Protein differential expression in normal tissues from HIPED for IGF2R Gene

This gene is overexpressed in Serum (23.2), Peripheral blood mononuclear cells (7.8), and Amniocyte (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for IGF2R Gene



Protein tissue co-expression partners for IGF2R Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IGF2R Gene:

IGF2R

SOURCE GeneReport for Unigene cluster for IGF2R Gene:

Hs.487062
genes like me logo Genes that share expression patterns with IGF2R: view

Primer 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 34 35
  • 99.23 (n)
dog
(Canis familiaris)
Mammalia CI-MPR/IGF2R 35
  • 86 (a)
OneToOne
IGF2R 34
  • 83.92 (n)
rat
(Rattus norvegicus)
Mammalia Igf2r 34
  • 81 (n)
mouse
(Mus musculus)
Mammalia Igf2r 34 16 35
  • 80.5 (n)
cow
(Bos Taurus)
Mammalia IGF2R 34 35
  • 79.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 72 (a)
OneToMany
-- 35
  • 65 (a)
OneToMany
M6P/IGF2R 35
  • 54 (a)
OneToMany
-- 35
  • 40 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia IGF2R 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves IGF2R 34 35
  • 64.4 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 57 (a)
OneToMany
-- 35
  • 55 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia igf2r 34
  • 60.3 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2029 34
zebrafish
(Danio rerio)
Actinopterygii igf2r 34 35
  • 58.72 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5040 34
fruit fly
(Drosophila melanogaster)
Insecta Lerp 35
  • 27 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MRL1 37
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 35 (a)
OneToOne
Species where no ortholog for IGF2R was found in the sources mined by GeneCards:
  • 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
rs121434587 Pathogenic 160,069,961(+) AGATG(G/T)CATAA reference, missense
rs121434588 Pathogenic 160,070,006(+) AGATG(A/G)GATTC reference, missense
rs193920850 Uncertain significance 160,062,621(+) GAAGG(C/T)AGGAC splice-donor-variant
rs8191933 Benign 160,096,440(+) ACAGA(C/T)GGCGA downstream-variant-500B, reference, synonymous-codon
rs1003737 -- 160,009,624(-) ACAAT(G/T)ATGTC intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv1844e212 CNV loss 25503493
esv1004150 CNV deletion 20482838
esv1551954 CNV insertion 17803354
esv1707140 CNV deletion 17803354
esv23071 CNV loss 19812545
esv2664271 CNV deletion 23128226
esv2733038 CNV deletion 23290073
esv2733039 CNV deletion 23290073
esv2733041 CNV deletion 23290073
esv2733042 CNV deletion 23290073
esv2733043 CNV deletion 23290073
esv2733044 CNV deletion 23290073
esv2733045 CNV deletion 23290073
esv2759484 CNV gain+loss 17122850
esv28288 CNV loss 19812545
esv35098 CNV gain 17911159
esv3611425 CNV gain 21293372
esv3611426 CNV loss 21293372
nsv1074029 CNV deletion 25765185
nsv1074441 CNV deletion 25765185
nsv1126082 CNV deletion 24896259
nsv1140374 OTHER inversion 24896259
nsv472314 CNV novel sequence insertion 20440878
nsv5564 CNV insertion 18451855
nsv604996 CNV loss 21841781
nsv818463 CNV gain 17921354

Variation tolerance for IGF2R Gene

Residual Variation Intolerance Score: 5.96% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.16; 92.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IGF2R Gene

Human Gene Mutation Database (HGMD)
IGF2R
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IGF2R

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

Disorders for IGF2R Gene

MalaCards: The human disease database

(5) MalaCards diseases for IGF2R Gene - From: OMIM, ClinVar, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hepatocellular carcinoma
  • hepatocellular carcinoma, somatic
mucolipidosis ii alpha/beta
  • inclusion-cell disease
glycogen storage disease ii
  • acid maltase deficiency
breast cancer
  • breast cancer, invasive ductal
colorectal cancer
  • colorectal cancer, somatic
- elite association - COSMIC cancer census association via MalaCards
Search IGF2R in MalaCards View complete list of genes associated with diseases

Relevant External Links for IGF2R

Genetic Association Database (GAD)
IGF2R
Human Genome Epidemiology (HuGE) Navigator
IGF2R
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IGF2R
genes like me logo Genes that share disorders with IGF2R: view

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

Publications for IGF2R Gene

  1. IGF2R missense single-nucleotide polymorphisms and breast cancer risk: the multiethnic cohort study. (PMID: 19435860) Cheng I. … Haiman C.A. (Cancer Epidemiol. Biomarkers Prev. 2009) 3 22 46 64
  2. Structure and functional analysis of the IGF-II/IGF2R interaction. (PMID: 18046459) Brown J. … Jones E.Y. (EMBO J. 2008) 3 4 22 64
  3. 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 22 46 64
  4. 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 22 46 64
  5. 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 22 46 64

Products for IGF2R Gene

Sources for IGF2R Gene

Content
Loading form....