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... See more...

Aliases for IGF2R Gene

Aliases for IGF2R Gene

  • Insulin Like Growth Factor 2 Receptor 2 3 5
  • MPRI 2 3 4
  • Cation-Independent Mannose-6-Phosphate Receptor 3 4
  • 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
  • CI-M6PR 2 3
  • MPR 300 3 4
  • MPR300 2 3
  • CI-MPR 2 4
  • CD222 2 3
  • CIMPR 2 3
  • M6P-R 2 3
  • MPR1 2 3
  • Cation-Independent Mannose-6 Phosphate Receptor 2
  • CD222 Antigen 4
  • IGF2R 5
  • 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 Adult Hepatocellular Carcinoma. Among its related pathways are Lysosome and Retrograde transport at the Trans-Golgi-Network. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and enzyme binding.

UniProtKB/Swiss-Prot Summary for IGF2R Gene

  • Mediates the transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes (PubMed:2963003, PubMed:18817523). 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 prelysosomal compartment where the low pH mediates the dissociation of the complex (PubMed:2963003, PubMed:18817523). The receptor is then recycled back to the Golgi for another round of trafficking through its binding to the retromer (PubMed:18817523). This receptor also binds IGF2 (PubMed:18046459). Acts as a positive regulator of T-cell coactivation by binding DPP4 (PubMed:10900005).

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 CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IGF2R Gene

Genomics for IGF2R Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IGF2R Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J159966 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 287 0.0 -13 5.9 SP1 ZNF207 NCOR1 MYC IKZF1 ZNF592 ATF2 POLR2A CEBPA NFIC IGF2R lnc-TCP1-6 MAS1 ENSG00000236823 SLC22A1 CHP1P2
GH06J159972 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 40.5 +4.6 4627 3 MYC ZNF600 IKZF1 NCOR1 ZNF592 CEBPA YY1 CEBPB FEZF1 ZNF639 IGF2R WTAP SOD2 SLC22A1 CHP1P2 MAS1 GQ166646
GH06J159988 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 39.9 +20.6 20601 2.3 NCOR1 MYC ZNF592 REST BHLHE40 MNT NBN TAL1 ZBTB33 ZNF316 IGF2R WTAP MAS1 ENSG00000236823 SOD2 SLC22A1 GQ166646
GH06J159975 Enhancer 1.5 FANTOM5 ENCODE dbSUPER 32.8 +11.8 11833 9.9 BCLAF1 SP1 ZNF207 IKZF1 MYC ZNF600 ZNF592 POLR2A BRCA1 NFIC IGF2R WTAP MAS1 SOD2 ENSG00000236823 SLC22A1 GQ166646
GH06J159999 Enhancer 1.2 Ensembl ENCODE dbSUPER 26 +31.1 31119 2.4 NCOR1 IKZF1 ZNF592 BHLHE40 TAL1 RBM22 FOSL2 STAT5A THRAP3 SMARCA4 IGF2R WTAP CHP1P2 ENSG00000236823 MAS1 MAP3K4 SLC22A1 GQ166646
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IGF2R on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IGF2R

Top Transcription factor binding sites by QIAGEN in the IGF2R gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • ER-alpha
  • Sox5
  • SRY

Genomic Locations for IGF2R Gene

Latest Assembly
chr6:159,969,082-160,113,507
(GRCh38/hg38)
Size:
144,426 bases
Orientation:
Plus strand

Previous Assembly
chr6:160,390,114-160,532,536
(GRCh37/hg19 by Entrez Gene)
Size:
142,423 bases
Orientation:
Plus strand

chr6:160,390,131-160,534,539
(GRCh37/hg19 by Ensembl)
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. Interacts with the heterotrimeric retromer cargo-selective complex (CSC), formed by VPS26 (VPS26A or VPS26B), VPS29 and VPS35; which is involved in retrograde trafficking of the receptor from endosomes to the Golgi apparatus (Probable).

    Three dimensional structures from OCA and Proteopedia for IGF2R Gene

neXtProt entry for IGF2R Gene

Post-translational modifications for IGF2R Gene

  • Palmitoylated (PubMed:18817523). Undergoes cysteine S-palmitoylation which promotes interaction with the retromer cargo-selective complex which mediates its retrograde trafficking to the Golgi apparatus (PubMed:18817523).
  • Glycosylation at Asn67, Asn112, Asn210, Asn400, Asn435, Asn517, Asn543, Asn581, Asn626, Asn747, Asn871, Asn951, Asn957, Asn1164, Asn1246, Asn1312, Asn1656, Asn1757, Asn1816, Asn2085, Asn2136, and Asn2348
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for IGF2R Gene

No data available for DME Specific Peptides for IGF2R Gene

Domains & Families for IGF2R Gene

Gene Families for IGF2R Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for IGF2R Gene

InterPro:
Blocks:
  • Type II fibronectin collagen-binding domain

Suggested Antigen Peptide Sequences for IGF2R Gene

GenScript: Design optimal peptide antigens:
  • Insulin-like growth factor type II receptor (A0N9R6_HUMAN)
  • Insulin-like growth factor type II receptor (A0N9R7_HUMAN)
  • Insulin-like growth factor type II receptor (A0N9R9_HUMAN)
  • M6P/IGF2 receptor (MPRI_HUMAN)

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.
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

UniProtKB/Swiss-Prot Function:
Mediates the transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes (PubMed:2963003, PubMed:18817523). 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 prelysosomal compartment where the low pH mediates the dissociation of the complex (PubMed:2963003, PubMed:18817523). The receptor is then recycled back to the Golgi for another round of trafficking through its binding to the retromer (PubMed:18817523). This receptor also binds IGF2 (PubMed:18046459). Acts as a positive regulator of T-cell coactivation by binding DPP4 (PubMed:10900005).
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)

Phenotypes From GWAS Catalog for IGF2R Gene

Gene Ontology (GO) - Molecular Function for IGF2R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001965 G-protein alpha-subunit binding IEA --
GO:0001972 retinoic acid binding IEA --
GO:0005010 insulin-like growth factor-activated receptor activity TAS 10799489
GO:0005515 protein binding IDA,IPI 10900005
GO:0005520 insulin-like growth factor binding IEA,IBA 21873635
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:

miRNA for IGF2R Gene

miRTarBase miRNAs that target IGF2R

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IGF2R

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

Golgi apparatus membrane. Single-pass type I membrane protein. Endosome membrane. Single-pass type I membrane protein. Note=Mainly localized in the Golgi at steady state and not detectable in lysosome (PubMed:18817523). Colocalized with DPP4 in internalized cytoplasmic vesicles adjacent to the cell surface (PubMed:10900005). {ECO:0000269 PubMed:10900005, ECO:0000269 PubMed:18817523}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IGF2R gene
Compartment Confidence
plasma membrane 5
extracellular 5
endosome 5
golgi apparatus 5
nucleus 4
lysosome 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (4)
  • Vesicles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IGF2R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005615 extracellular space IEA --
GO:0005634 nucleus IEA --
GO:0005641 nuclear envelope lumen IEA --
GO:0005768 endosome IDA 15078902
genes like me logo Genes that share ontologies with IGF2R: view

Pathways & Interactions for IGF2R Gene

PathCards logo

SuperPathways for IGF2R Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.62
.61
.60
.57
2 Apoptosis Pathway
3 Clathrin derived vesicle budding
4 Innate Immune System
5 MAPK Signaling: Mitogen Stimulation Pathway
genes like me logo Genes that share pathways with IGF2R: view

Pathways by source for IGF2R Gene

23 Qiagen pathways for IGF2R Gene
  • Actin-Based Motility by Rho Family GTPases
  • Activation of PKC through GPCR
  • Antioxidant Action of Vitamin-C
  • Apoptotic Pathways in Synovial Fibroblasts
  • Breast Cancer Regulation by Stathmin1
2 Cell Signaling Technology pathways for IGF2R Gene

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:0006898 receptor-mediated endocytosis TAS 10799489
GO:0007041 lysosomal transport IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cerliponase alfa Approved, Investigational Pharma Target, ligand 0
Mecasermin Approved, Investigational Pharma Target 36
Mecasermin rinfabate Approved Pharma Target 0
alpha-D-mannose 6-phosphate Experimental Pharma Target 0
mannose Investigational Pharma 0

(18) Additional Compounds for IGF2R Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
GSK 1838705
1116235-97-2
Insulin (human) recombinant
11061-68-0
Picropodophyllotoxin
477-47-4

(5) Tocris Compounds for IGF2R Gene

Compound Action Cas Number
Demethylasterriquinone B1 Selective insulin RTK activator 78860-34-1
GSK 1838705 Potent IR and IGF1R inhibitor; also inhibits anaplastic lymphoma kinase (ALK) 1116235-97-2
Insulin (human) recombinant Endogenous peptide agonist 11061-68-0
Picropodophyllotoxin Selective IGF1R inhibitor 477-47-4
PQ 401 IGF1R inhibitor 196868-63-0
genes like me logo Genes that share compounds with IGF2R: view

Transcripts for IGF2R Gene

mRNA/cDNA for IGF2R Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IGF2R

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

No ASD Table

Relevant External Links for IGF2R Gene

GeneLoc Exon Structure for
IGF2R

Expression for IGF2R Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for IGF2R Gene



Protein tissue co-expression partners for IGF2R Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IGF2R

SOURCE GeneReport for Unigene cluster for IGF2R Gene:

Hs.487062

Evidence on tissue expression from TISSUES for IGF2R Gene

  • Liver(4.8)
  • Blood(4.6)
  • Nervous system(3.9)
  • Lung(3.4)
  • Intestine(3.4)
  • Kidney(3.4)
  • Heart(3.1)
  • Adrenal gland(3.1)
  • Muscle(3)
  • Skin(2.7)
  • Pancreas(2.7)
  • Spleen(2.7)
  • Eye(2.6)
  • Stomach(2.3)
  • Thyroid gland(2.2)
  • Bone marrow(2.1)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IGF2R Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • head
  • mouth
  • salivary gland
Thorax:
  • breast
  • esophagus
Abdomen:
  • kidney
  • liver
  • spleen
Pelvis:
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood vessel
  • coagulation system
  • skin
genes like me logo Genes that share expression patterns with IGF2R: view

Primer products for research

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 29 30
  • 99.23 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CI-MPR/IGF2R 30
  • 86 (a)
OneToOne
IGF2R 29
  • 83.92 (n)
Rat
(Rattus norvegicus)
Mammalia Igf2r 29
  • 81 (n)
Mouse
(Mus musculus)
Mammalia Igf2r 29 16 30
  • 80.5 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia IGF2R 29 30
  • 79.36 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 72 (a)
OneToMany
-- 30
  • 65 (a)
OneToMany
M6P/IGF2R 30
  • 54 (a)
OneToMany
-- 30
  • 40 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia IGF2R 30
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves IGF2R 29 30
  • 64.4 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 57 (a)
OneToMany
-- 30
  • 55 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia igf2r 29
  • 60.3 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2029 29
Zebrafish
(Danio rerio)
Actinopterygii igf2r 29 30
  • 58.72 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5040 29
Fruit Fly
(Drosophila melanogaster)
Insecta Lerp 30
  • 27 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MRL1 32
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 35 (a)
OneToOne
Species where no ortholog for IGF2R was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for IGF2R: view image
Alliance of Genome Resources:
Additional Orthologs for IGF2R

Paralogs for IGF2R Gene

No data available for Paralogs for IGF2R Gene

Variants for IGF2R Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IGF2R Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
915431 Likely Pathogenic: Hepatocellular carcinoma 159,969,289(+) CCCGCCCG/C
NM_000876.4(IGF2R):c.45_51CGCCCGC[1] (p.Arg18fs)
FRAMESHIFT
929753 Likely Pathogenic: Premature ovarian failure 160,010,723(+) C/T
NM_000876.4(IGF2R):c.451C>T (p.His151Tyr)
MISSENSE
978483 Likely Benign: not provided 160,062,603(+) C/T
NM_000876.3(IGF2R):c.3654C>T (p.Pro1218=)
SYNONYMOUS
rs115412888 Benign: not provided 160,078,349(+) C/T
NM_000876.3(IGF2R):c.5465C>T (p.Thr1822Met)
MISSENSE
rs121434587 Pathogenic: Hepatocellular carcinoma 160,069,961(+) G/T
NM_000876.3(IGF2R):c.4346G>T (p.Gly1449Val)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for IGF2R Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for IGF2R Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for IGF2R Gene

MalaCards: The human disease database

(26) MalaCards diseases for IGF2R Gene - From: OMI, CVR, GTR, COP, and GCD

Disorder Aliases PubMed IDs
hepatocellular carcinoma
  • hcc
adult hepatocellular carcinoma
  • adult hepatoma
mucolipidosis ii alpha/beta
  • mucolipidosis ii; ml ii
premature ovarian failure 1
  • pof1
premature menopause
  • menopause - premature
- elite association - COSMIC cancer census association via MalaCards
Search IGF2R in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IGF2R

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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. Genotypes and haplotypes in the insulin-like growth factors, their receptors and binding proteins in relation to plasma metabolic levels and mammographic density. (PMID: 20302654) Biong M … Kristensen VN (BMC medical genomics 2010) 3 22 40
  2. IGF2R missense single-nucleotide polymorphisms and breast cancer risk: the multiethnic cohort study. (PMID: 19435860) Cheng I … Haiman CA (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2009) 3 22 40
  3. IGF2R polymorphisms and risk of esophageal and gastric adenocarcinomas. (PMID: 19626700) Hoyo C … Gammon MD (International journal of cancer 2009) 3 22 40
  4. Structure and functional analysis of the IGF-II/IGF2R interaction. (PMID: 18046459) Brown J … Jones EY (The EMBO journal 2008) 3 4 22
  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 VG (Cancer letters 2008) 3 22 40

Products for IGF2R Gene

Sources for IGF2R Gene