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IGF2R Gene

protein-coding   GIFtS: 68
GCID: GC06P160390

Insulin-Like Growth Factor 2 Receptor

  See IGF2R-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Insulin-Like Growth Factor 2 Receptor1 2 3     IGF-II Receptor2 3
MPRI2 3 5     M6P/IGF2 Receptor2 3
Cation-Independent Mannose-6 Phosphate Receptor1 2     MPR 3002 3
Insulin-Like Growth Factor II Receptor2 3     CD2222
300 KDa Mannose 6-Phosphate Receptor2 3     CIMPR2
CI-MPR2 3     M6P-R2
M6P/IGF2R2 3     MPR12
M6PR2 3     Cation-Independent Mannose-6-Phosphate Receptor2
CI Man-6-P Receptor2 3     CD222 Antigen3

External Ids:    HGNC: 54671   Entrez Gene: 34822   Ensembl: ENSG000001970817   OMIM: 1472805   UniProtKB: P117173   

Export aliases for IGF2R gene to outside databases

Previous GC identifers: GC06P159829 GC06P160263 GC06P160299 GC06P160360 GC06P160310 GC06P157860


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 donohue syndrome, and hepatocellular carcinoma, somatic. GO annotations related to this gene include transporter activity and identical protein binding.

UniProtKB/Swiss-Prot: MPRI_HUMAN, P11717
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

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 (Insulin-like growth factor 2 receptor) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NC_018917.2  NT_025741.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the IGF2R gene promoter:
         ER-alpha   c-Fos   Sox5   SRY   AP-1   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIGF2R promoter sequence
   Search Chromatin IP Primers for IGF2R

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IGF2R


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q26   Ensembl cytogenetic band:  6q25.3   HGNC cytogenetic band: 6q25-q27

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

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P160390:  view genomic region     (about GC identifiers)

Start:
160,390,131 bp from pter      End:
160,534,539 bp from pter
Size:
144,409 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MPRI_HUMAN, P11717 (See protein sequence)
Recommended Name: Cation-independent mannose-6-phosphate receptor precursor  
Size: 2491 amino acids; 274375 Da
Subunit: Binds HA-I and HA-II plasma membrane adapters (By similarity). Interacts with DPP4; the interaction is
direct. Binds GGA1, GGA2 and GGA3
Selected PDB 3D structures from and Proteopedia for IGF2R (see all 13):
1E6F (3D)        1GP0 (3D)        1GP3 (3D)        1GQB (3D)        1JPL (3D)        1JWG (3D)    
Secondary accessions: Q7Z7G9 Q96PT5

Explore the universe of human proteins at neXtProt for IGF2R: NX_P11717

Explore proteomics data for IGF2R at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn112, Asn400, Asn435, Asn543, Asn581, Asn626, Asn747, Asn871, Asn951, Asn957,
                                 Asn1164, Asn1246, Asn1312, Asn1656, Asn1757, Asn1816, Asn2085, Asn2136
  • Modification sites at PhosphoSitePlus

  • See IGF2R Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000867.2  
    ENSEMBL proteins: 
     ENSP00000349437   ENSP00000473880  
    Reactome Protein details: P11717

    IGF2R Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for IGF2R

     
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    Cloud-Clone Corp. ELISAs for IGF2R
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    Search eBioscience for ELISAs for IGF2R 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules

    4 InterPro protein domains:
     IPR000479 CIMR
     IPR009011 Man6P_isomerase_rcpt-bd_dom
     IPR013806 Kringle-like
     IPR000562 FN_type2_col-bd

    Graphical View of Domain Structure for InterPro Entry P11717

    ProtoNet protein and cluster: P11717

    1 Blocks protein domain: IPB000562 Type II fibronectin collagen-binding domain

    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
    Similarity: Belongs to the MRL1/IGF2R family
    Similarity: Contains 1 fibronectin type-II domain


    Find genes that share domains with IGF2R           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MPRI_HUMAN, P11717
    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

         Genatlas biochemistry entry for IGF2R:
    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)

         Gene Ontology (GO): Selected molecular function terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001948glycoprotein binding IDA10900005
    GO:0001965G-protein alpha-subunit binding IEA--
    GO:0001972retinoic acid binding IEA--
    GO:0004872receptor activity TAS7753549
    GO:0004930G-protein coupled receptor activity IEA--
         
    Find genes that share ontologies with IGF2R           About GenesLikeMe


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 8 alleles(MGI details for Igf2r) (see all 17):
     behavior/neurological  cardiovascular system  cellular  craniofacial  embryogenesis 
     growth/size/body  hematopoietic system  homeostasis/metabolism  limbs/digits/tail  liver/biliary system 
     mortality/aging  nervous system  normal  renal/urinary system  reproductive system 

    Find genes that share phenotypes with IGF2R           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for IGF2R: Igf2rtm1Stw Igf2rtm2Arge Igf2rtm1Arge Igf2rtm1.1Rlj

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IGF2R
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IGF2R
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IGF2R

    miRNA
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    miRTarBase miRNAs that target IGF2R:
    hsa-mir-657 (MIRT016136), hsa-mir-16-5p (MIRT001451), hsa-mir-423-3p (MIRT042556), hsa-mir-128-3p (MIRT045878), hsa-mir-26b-5p (MIRT029460), hsa-mir-9-5p (MIRT021356), hsa-mir-155-5p (MIRT020747), hsa-mir-1271-5p (MIRT036067)

    Block miRNA regulation of human, mouse, rat IGF2R using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate IGF2R (see all 43):
    hsa-miR-3194-5p hsa-miR-3607-3p hsa-miR-429 hsa-miR-15a hsa-miR-30d hsa-miR-9 hsa-miR-424 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidIGF2R 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat IGF2R

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: IGF2R (NM_000876)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IGF2R

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    eBioscience FlowRNA Probe Sets ( VA1-12328) for IGF2R 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MPRI_HUMAN, P11717: 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: 

    CompartmentConfidence
    endosome5
    golgi apparatus5
    lysosome5
    vacuole5
    plasma membrane4
    extracellular2
    nucleus2
    cytoskeleton1
    cytosol1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--
    GO:0005634nucleus ----
    GO:0005641nuclear envelope lumen IEA--
    GO:0005737cytoplasm ----
    GO:0005765lysosomal membrane IEA--

    Find genes that share ontologies with IGF2R           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for IGF2R About   (see all 14)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    PPAR Pathway0.66
    Cellular Apoptosis Pathway0.85
    Rac1 Pathway0.65
    Apoptotic Pathways in Synovial Fibroblasts0.84
    Actin-Based Motility by Rho Family GTPases0.62
    p53 Mediated Apoptosis0.84
    ERK5 Signaling0.61
    2Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    trans-Golgi Network Vesicle Budding0.89
    Golgi Associated Vesicle Biogenesis0.89
    Membrane Trafficking0.32
    3Apoptosis Pathway
    Apoptosis Pathway0.45
    Akt Pathway0.39
    NF-kappaB Pathway0.45
    4CREB Pathway
    CREB Pathway0.68
    Activation of PKC through GPCR0.63
    5p70S6K Signaling
    p70S6K Signaling0.60
    Renin-Angiotensin Pathway0.60


    Find genes that share SuperPaths with IGF2R           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for IGF2R
        Akt Signaling Pathway

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for IGF2R (see all 23)
        MAPK Signaling
    Nuclear Receptor Activation by Vitamin-A
    DHA Signaling
    Actin-Based Motility by Rho Family GTPases
    Telomerase Components in Cell Signaling

    1 Cell Signaling Technology (CST) Pathway for IGF2R
        Glucose / Energy Metabolism

    5 Tocris Bioscience Pathways for IGF2R
        Akt Pathway
    Insulin Pathway
    Apoptosis Pathway
    NF-kappaB Pathway
    mTOR Pathway

    1 Reactome Pathway for IGF2R
        Golgi Associated Vesicle Biogenesis


    1 Kegg Pathway  (Kegg details for IGF2R):
        Lysosome

        Pathway & Disease-focused RT2 Profiler PCR Arrays including IGF2R: 
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              G Protein Coupled Receptors 384HT in human mouse rat
              Cancer Drug Resistance in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for IGF2R

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for IGF2R (P117171, 2, 3 ENSP000003494374) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IGF2P013441, 2, 3EBI-1048580,EBI-7178764 MINT-6381282 MINT-6381591 MINT-6381798 MINT-6381176 MINT-6380974 MINT-6381828 MINT-6381259 MINT-6381034 MINT-6381394 MINT-6381465 MINT-6381218 MINT-6381323 MINT-6381777 MINT-6381202 MINT-6381450 MINT-6380995 MINT-6381420 I2D: score=1 
    GGA1Q9UJY51, 2, 3, ENSP000003413444EBI-1048580,EBI-447141 MINT-16907 MINT-19069 MINT-19068 I2D: score=4 STRING: ENSP00000341344
    PACS1Q6VY071, 2, 3, ENSP000003164544EBI-1048580,EBI-2555014 MINT-3372458 MINT-3372208 I2D: score=2 STRING: ENSP00000316454
    IGF2RP117171, 2EBI-1048580,EBI-1048580 MINT-8382135 MINT-8382089 MINT-8382104 MINT-8382120
    TGOLN2O434932, 3, ENSP000003666034MINT-3372318 I2D: score=1 STRING: ENSP00000366603
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001889liver development IEA--
    GO:0006810transport ----
    GO:0006898receptor-mediated endocytosis TAS10799489
    GO:0007165signal transduction TAS7753549
    GO:0007186G-protein coupled receptor signaling pathway ----

    Find genes that share ontologies with IGF2R           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for IGF2R available from Tocris Bioscience    About this table
    CompoundAction CAS #
    PicropodophyllotoxinSelective IGF1R inhibitor[477-47-4]
    Demethylasterriquinone B1Selective insulin RTK activator[78860-34-1]
    BMS 536924Dual IR/IGF1R inhibitor[468740-43-4]
    Insulin (human) recombinantEndogenous peptide agonist[11061-68-0]

    1 HMDB Compound for IGF2R    About this table
    CompoundSynonyms CAS #PubMed Ids
    Mannose 6-phosphateD-Mannose 6-phosphate (see all 10)3672-15-9--

    3 DrugBank Compounds for IGF2R    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Alpha-D-Mannose-- 3458-28-4target--17139284 17016423 10592235
    Alpha-D-Mannose-6-Phosphate-- --target--17139284 17016423 10592235
    Mecasermin-- 68562-41-4target--19198769

    Selected Novoseek inferred chemical compound relationships for IGF2R gene (see all 33)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mannose 6-phosphate 98.1 528 17927214 (5), 20028034 (4), 17069798 (4), 1314098 (4) (see all 99)
    perillyl alcohol 60.8 1 15569989 (1)
    u18666a 59.6 12 15322907 (5), 12867541 (2), 17069798 (1)
    mononucleotide 59.2 6 9349506 (1), 9777949 (1), 10757056 (1), 10398102 (1) (see all 6)
    proliferin 57.4 1 1421424 (1)
    mannose 52.6 11 10446221 (1), 14557264 (1), 15170390 (1), 17308058 (1) (see all 7)
    maxon 45.4 3 10802648 (2), 9730607 (1)
    glycogen 18 1 17952403 (1)
    retinoic acid 16.6 24 16680587 (3), 18162363 (3), 9811861 (2), 8050357 (1) (see all 7)
    heparan sulfate 13.6 1 16280358 (1)



    Find genes that share compounds with IGF2R           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for IGF2R gene: 
    NM_000876.2  

    Unigene Cluster for IGF2R:

    Insulin-like growth factor 2 receptor
    Hs.487062  [show with all ESTs]
    Unigene Representative Sequence: NM_000876
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356956(uc003qta.3) ENST00000464636 ENST00000487607 ENST00000475834
    ENST00000475584
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate IGF2R (see all 43):
    hsa-miR-3194-5p hsa-miR-3607-3p hsa-miR-429 hsa-miR-15a hsa-miR-30d hsa-miR-9 hsa-miR-424 hsa-miR-30a
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    Additional mRNA sequence: 

    AB209668.1 AK300848.1 J03528.1 S80797.1 Y00285.1 

    10 DOTS entries:

    DT.91709981  DT.451947  DT.418589  DT.97850807  DT.102830633  DT.92067790  DT.91832594  DT.91878764 
    DT.91953549  DT.97850809 

    Selected AceView cDNA sequences (see all 411):

    BM669717 CD366378 AA054938 BM799793 BF222741 AI357150 AU124259 AI829889 
    BX283477 BE463471 BM727565 AI678466 AI392821 AI978694 BM743396 AI307337 
    AI538917 BQ716361 AI458734 BG328474 BC010121 BU728229 BF445499 BQ689054 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    IGF2R expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    IGF2R Expression
    About this image


    IGF2R expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Trophoblast (Extraembryonic Tissues)    fully expand to see all 3 entries
             Zygote Zygote
     
     Zygote (Early Embryonic Tissues)    fully expand to see all 3 entries
             Zygote Zygote
     
     Inner Cell Mass (Early Embryo)    fully expand to see all 3 entries
             Zygote Zygote
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
    IGF2R Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IGF2R Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.487062
        Pathway & Disease-focused RT2 Profiler PCR Arrays including IGF2R: 
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              G Protein Coupled Receptors 384HT in human mouse rat
              Cancer Drug Resistance in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for IGF2R
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IGF2R

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for IGF2R gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Igf2r1 , 5 insulin-like growth factor 2 receptor1, 5 80.5(n)1
    81.76(a)1
      17 (8.64 cM)5
    160041  NM_010515.21  NP_034645.21 
     126824065 
    chicken
    (Gallus gallus)
    Aves IGF2R1 insulin-like growth factor 2 receptor 64.4(n)
    61.04(a)
      395817  NM_204970.1  NP_990301.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    57(a)
    55(a)
    many → 1
    many → 1
    1(211930830-211936039)
    1(211936497-212030645)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.20292 Xenopus laevis transcribed sequence with weak similarity more 73.51(n)    48021205 
    zebrafish
    (Danio rerio)
    Actinopterygii igf2r1 insulin-like growth factor 2 receptor 58.72(n)
    53.51(a)
      557061  NM_001039627.2  NP_001034716.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Lerp6
    lysosomal enzyme receptor protein
    27(a)
    1 ↔ 1
    3R(22668184-22688843)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for IGF2R (see all 3793)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs589864211,2
    C,F--157858765(+) GTTACC/TGGTTC 1 -- us2k17Minor allele frequency- T:0.32NA WA CSA EA 365
    rs1928544161,2
    --157858770(+) CGGTTC/TTCACA 1 -- us2k10--------
    rs1854619661,2
    --157858959(+) TACCAG/TATCTT 1 -- us2k10--------
    rs1436317701,2
    --157859042(+) TATTCC/TGCTTC 1 -- us2k10--------
    rs94577921,2
    C,F--157859064(+) tcaccA/Ggatgg 1 -- us2k18Minor allele frequency- G:0.39WA NA CSA EA 367
    rs122013301,2
    C,F--157859169(+) aatctG/Cgctct 1 -- us2k11Minor allele frequency- C:0.50NA 2
    rs77572191,2
    C,A--157859208(+) atctcG/Tgctca 1 -- us2k13Minor allele frequency- T:0.20WA NA CSA 5
    rs1900363141,2
    --157859254(+) CTGCCC/TCAGCC 1 -- us2k10--------
    rs1817369311,2
    --157859283(+) ACAGGC/TGTGTG 1 -- us2k10--------
    rs1847848231,2
    --157859339(+) TTCACC/TGTGTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for IGF2R (160390131 - 160534539 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for IGF2R (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2733043CNV Deletion23290073
    esv1707140CNV Deletion17803354
    esv2733044CNV Deletion23290073
    esv2733045CNV Deletion23290073
    esv2664271CNV Deletion23128226
    esv1004150CNV Deletion20482838
    esv2733041CNV Deletion23290073
    esv2733038CNV Deletion23290073
    esv2733039CNV Deletion23290073
    esv2733042CNV Deletion23290073

    Human Gene Mutation Database (HGMD): IGF2R
    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing IGF2R:
    Oncogenes & Tumor Suppressor Genes 384HC
    SeqTarget long-range PCR primers for resequencing IGF2R
    DNA2.0 Custom Variant and Variant Library Synthesis for IGF2R

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 147280   
    OMIM disorders: 114550  
    6 diseases for IGF2R:    
    About MalaCards
    donohue syndrome    hepatocellular carcinoma, somatic    simpson-golabi-behmel syndrome    insulin resistance
    hepatocellular carcinoma    lung cancer

    1 disease from the University of Copenhagen DISEASES database for IGF2R:
    Beckwith-Wiedemann syndrome

    Find genes that share disorders with IGF2R           About GenesLikeMe

    Selected Novoseek inferred disease relationships for IGF2R gene (see all 37)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    i-cell disease 74.3 3 2161763 (1), 18559255 (1), 1314098 (1)
    microsatellite instability 65.4 7 10855548 (1), 9205049 (1), 10213220 (1), 10398102 (1) (see all 7)
    pompe disease 50.3 2 15839836 (2)
    allelic loss 43.9 2 9413941 (1)
    tumors 39.9 66 9349506 (2), 16452186 (2), 18037232 (2), 15026620 (2) (see all 50)
    hepatocellular carcinoma 30.8 12 1337723 (2), 7639583 (2), 12736721 (2), 11981765 (1) (see all 9)
    cancer 22.2 22 9157973 (2), 10446221 (2), 19251056 (2), 12857727 (2) (see all 12)
    breast cancer 18.3 36 19435860 (4), 15687678 (3), 12149131 (2), 15026620 (2) (see all 13)
    colon cancer 18.1 1 10424776 (1)
    tumor liver 16.9 1 9652747 (1)

    Genetic Association Database (GAD): IGF2R
    Human Genome Epidemiology (HuGE) Navigator: IGF2R (38 documents)

    Export disorders for IGF2R gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for IGF2R gene, integrated from 10 sources (see all 515):
    (articles sorted by number of sources associating them with IGF2R)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The 3' UTR IGF2R-A2/B2 variant is associated with increased tumor growth and advanced stages in non-small cell lung cancer. (PubMed id 18037232)1, 4, 9 Kotsinas A....Gorgoulis V.G. (Cancer Lett. 2008)
    2. Genetic variation in the type 2 insulin-like growth factor receptor gene and disparity in childhood height. (PubMed id 16172012)1, 4, 9 Petry C.J....Dunger D.B. (amp 2005)
    3. IGF2R missense single-nucleotide polymorphisms and breast cancer risk: the multiethnic cohort study. (PubMed id 19435860)1, 4, 9 Cheng I....Haiman C.A. (amp 2009)
    4. Insulin-like growth factor 2 (IGF2) and IGF2 receptor gene variants are associated with fetal growth. (PubMed id 17407457)1, 4, 9 Kaku K....Sekiya S. (Acta Paediatr. 2007)
    5. Lack of association of birth size with polymorphisms of two imprinted genes, IGF2R and GRB10. (PubMed id 15506681)1, 4, 9 Kukuvitis A....Polychronakos C. (amp 2004)
    6. Internalization of CD26 by mannose 6-phosphate/insulin-like growth factor II receptor contributes to T cell activation. (PubMed id 10900005)1, 2, 9 Ikushima H.... Morimoto C. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    7. Genotypes and haplotypes in the insulin-like growth factors, their receptors and binding proteins in relation to plasma metabolic levels and mammographic density. (PubMed id 20302654)1, 4, 9 Biong M....Kristensen V.N. (BMC Med Genomics 2010)
    8. IGF2R polymorphisms and risk of esophageal and gastric adenocarcinomas. (PubMed id 19626700)1, 4, 9 Hoyo C....Gammon M.D. (Int. J. Cancer 2009)
    9. Genetic variation in insulin-like growth factors and brain tumor risk. (PubMed id 18562769)1, 4, 9 LAPnn S....Inskip P.D. (Neuro-oncology 2008)
    10. Analysis of genes critical for growth regulation identifies Insulin-like Growth Factor 2 Receptor variations with possible functional significance as risk factors for osteosarcoma. (PubMed id 17684144)1, 4, 9 Savage S.A....Chanock S.J. (amp 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3482 HGNC: 5467 AceView: IGF2R Ensembl:ENSG00000197081 euGenes: HUgn3482
    ECgene: IGF2R Kegg: 3482 H-InvDB: IGF2R

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for IGF2R Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for IGF2R Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/igf2r/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for IGF2R gene:
    Search GeneIP for patents involving IGF2R

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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