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Aliases for IGF2R Gene

Aliases for IGF2R Gene

  • Insulin-Like Growth Factor 2 Receptor 2 3 4
  • 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
  • MPRI 3 4
  • Mannose 6-Phosphate/Insulin-Like Growth Factor-II 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. 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 Apoptotic Pathways in Synovial Fibroblasts and GPCR Pathway. 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

Epigenetics Products

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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene 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 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)

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 IDA 10900005
GO:0004872 receptor activity TAS 7753549
GO:0005010 insulin-like growth factor-activated receptor activity TAS 10799489
GO:0005215 transporter activity IEA --
GO:0005515 protein binding IPI 10900005
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

miRNA for IGF2R Gene

miRTarBase miRNAs that target IGF2R

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 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 4
lysosome 3
vacuole 3
nucleus 2
cytoskeleton 1
cytosol 1

Gene Ontology (GO) - Cellular Components for IGF2R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005641 nuclear envelope lumen IEA --
GO:0005737 cytoplasm --
GO:0005765 lysosomal membrane IEA --
GO:0005768 endosome IDA 15078902
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

PCR Array Products

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

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:0006810 transport --
GO:0006898 receptor-mediated endocytosis TAS 10799489
GO:0007165 signal transduction TAS 7753549
GO:0048009 insulin-like growth factor receptor signaling pathway TAS 10799489
genes like me logo Genes that share ontologies with IGF2R: view

Drugs & Compounds for IGF2R Gene

(17) Drugs for IGF2R Gene - From: NovoSeek and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mecasermin Approved, Investigational Pharma Target 0
chloroquine Approved Pharma Agonist 137
Progesterone Approved Pharma Inhibition, Pore Blocker Endogenous progesterone receptor agonist 473
Alpha-D-Mannose-6-Phosphate Experimental Pharma Target 0
cholesterol Experimental Pharma Agonist 0

(24) 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
BMS 536924
468740-43-4
Demethylasterriquinone B1
78860-34-1
Insulin (human) recombinant
11061-68-0
genes like me logo Genes that share compounds with IGF2R: view

Transcripts for IGF2R Gene

mRNA/cDNA for IGF2R Gene

Unigene Clusters for IGF2R Gene

Insulin-like growth factor 2 receptor:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing 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 (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, MOPED, and MaxQB for IGF2R Gene



SOURCE GeneReport for Unigene cluster for IGF2R Gene Hs.487062

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

Protein tissue co-expression partners for IGF2R Gene

- Elite partner

Primer Products

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
cow
(Bos Taurus)
Mammalia IGF2R 35
  • 79.36 (n)
  • 81.35 (a)
IGF2R 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IGF2R 35
  • 83.92 (n)
  • 85.94 (a)
CI-MPR/IGF2R 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Igf2r 35
  • 80.5 (n)
  • 81.76 (a)
Igf2r 16
Igf2r 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia IGF2R 35
  • 99.23 (n)
  • 99.27 (a)
IGF2R 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Igf2r 35
  • 81 (n)
  • 81.46 (a)
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
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
tropical clawed frog
(Silurana tropicalis)
Amphibia igf2r 35
  • 60.3 (n)
  • 55.87 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2029 35
zebrafish
(Danio rerio)
Actinopterygii igf2r 35
  • 58.72 (n)
  • 53.51 (a)
igf2r 36
  • 50 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5040 35
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

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

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

(9) 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
  • mucolipidosis ii
glycogen storage disease ii
  • pompe's disease
insulin-like growth factor i
  • insulin-like growth factor i, resistance to
menkes disease
  • copper transport disease
- elite association
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. Mannose-6-phosphate/insulin-like growth factor 2 receptor (M6P/IGF2R) in carcinogenesis. (PMID: 19646808) Martin-Kleiner I. … Gall Troselj K. (Cancer Lett. 2010) 23 67
  2. Residues essential for plasminogen binding by the cation-independent mannose 6-phosphate receptor. (PMID: 20028034) Bohnsack R.N. … Dahms N.M. (Biochemistry 2010) 23 67
  3. Evolution of mannose 6-phosphate receptors (MPR300 and 46): lysosomal enzyme sorting proteins. (PMID: 20201808) Nadimpalli S.K. … Amancha P.K. (Curr. Protein Pept. Sci. 2010) 23 67
  4. Insulin-like growth factors I and II receptors in the breast cancer survival disparity among African-American women. (PMID: 20347606) Kalla Singh S. … De LeA^n D. (Growth Horm. IGF Res. 2010) 23 67
  5. 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) 23 67

Products for IGF2R Gene

Sources for IGF2R Gene

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