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FLASH GENE
Symbol IGF2R contributors: shn/npt/pgu - updated : 02-02-2016
HGNC name insulin-like growth factor 2 receptor
HGNC id 5467
Location 6q25.3      Physical location : 160.390.130 - 160.527.581
Synonym name
  • cation-independent mannose-6-phosphate receptor
  • 300 kDa mannose 6-phosphate receptor
  • M6P/IGF2 receptor
  • Mannose-6-phosphate
  • CD222 antigen
  • insulin-like growth factor-2 receptor (mannose-6-phosphate receptor, cation-independent)
  • CI Man-6-P receptor
  • Synonym symbol(s) M6P, MPR2, CD222, CIMPR, MPRI, MPR1, M6P-R, M6P/IGF2R
    DNA
    TYPE functioning gene
    STRUCTURE 137.45 kb     48 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    Binding site
    motif repetitive sequence
    text structure
  • promoter-restricted enrichment of DMH (differentially methylated histone) rather than CpG methylation in the DMR or the presence of an antisense transcript, correctly identifies the imprinting status
  • NFIL3 binds directly to the IGF2R promoter region and repress IGF2R gene promoter activity
  • MAPPING cloned Y linked N status confirmed
    Map cen - D6S1035 - D6S1581 - IGF2R - D6S1579 - D6S1550 - qter
    Physical map
    TCTEL1 6q25.2-q25.3 t-complex-associated-testis-expressed 1-like 1 SYTL3 6q25.3 synaptotagmin-like 3 VIL2 6q25-q26 villin 2 (ezrin) LOC389439 6 LOC389439 LOC202459 6q25.3 similar to RIKEN cDNA 2310008M10 LOC389440 6 LOC389440 LOC346064 6q25.3 similar to SNARE protein Ykt6; YKT6, S. cerevisiae, homolog of RSHL2 6q25.3 radial spokehead-like 2 TAGAP 6q25.3 T-cell activation GTPase activating protein LOC389441 6 LOC389441 LOC389442 6 LOC389442 LOC389443 6 LOC389443 LOC389444 6 similar to frazzled CG8581-PA FNDC1 6q25 fibronectin type III domain containing 1 LOC389445 6 similar to 60S ribosomal protein L21 SOD2 6q25.2 superoxide dismutase 2, mitochondrial WTAP 6q25-q27 Wilms tumor 1 associated protein ACAT2 6q25.3-q26 acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase) TCP1 6q25.1-q25.2 t-complex 1 MRPL18 6q25.3 mitochondrial ribosomal protein L18 PNLDC1 6q25.3 poly(A)-specific ribonuclease (PARN)-like domain containing 1 MAS1 6q25.3-q26 MAS1 oncogene IGF2R 6q26-q27 insulin-like growth factor 2 receptor SLC22A1 6q27 solute carrier family 22 (organic cation transporter), member 1 SLC22A2 6q26-q27 solute carrier family 22 (organic cation transporter), member 2 SLC22A3 6q26-q27 solute carrier family 22 (extraneuronal monoamine transporter), member 3 APOAL 6q26-q27 apolipoprotein A-like LPA 6q26-q27 lipoprotein, Lp(a) PLG 6q26 plasminogen LOC389446 6 similar to apolipoprotein(a) (EC 3.4.21.-) - rhesus macaque (fragment) LOC389447 6 LOC389447 MAP3K4 6q25.3 mitogen-activated protein kinase kinase kinase 4 AGPAT4 6q25.3 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) C6orf59 6q25.3 chromosome 6 open reading frame 59
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    48 - 9093 274.3 2491 - 1999 9892739
  • a 40 aa signal peptide of 4.1 kda
  • a 2451 aa mature peptide of 270.2 kda
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestine   moderately
     pancreas exocrine   moderately
    Endocrinethyroid   highly
    Lymphoid/Immunelymph node   highly
     spleen   highly
    Nervousnerve   moderately
    Reproductivefemale systembreastmammary gland moderately
     male systemprostate  moderately
    Respiratorylung   moderately
    Urinarykidney   highly
    Visualeye   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  predominantly
    Connectivebone  moderately
    Muscular   highly
    cell lineage
    cell lines
    fluid/secretion moderately in blood
    at STAGE
    physiological period fetal
    Text pancreas
    IMPRINTING maternally
    text imprinting status depends on parental allele-specific histone modification rather than DNA methylation or antisense transcription
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a 40 aa signal peptide of 4.1 kda
  • an extracytoplasmic domain consisting of 15 homologous repeat sequences
  • a fibronectin type 2 domain
  • a unique transmembrane segment (TM1)
  • a cytoplasmic tail
  • conjugated GlycoP , PhosphoP
    isoforms Precursor a 2451 aa mature peptide of 270.2 kda
    HOMOLOGY
    interspecies ortholog to IGF2R, Pan troglodytes
    ortholog to igf2r, Danio rerio
    ortholog to Igf2r, Mus musculus
    ortholog to Igf2r, Rattus norvegicus
    Homologene
    FAMILY
  • MRL1/IGF2R family
  • CATEGORY tumor suppressor , signaling cytokine growth factor , receptor membrane , transport
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    intracellular,nuclear envelope,lumen
    text
  • single-pass type I membrane protein
  • integral to plasma membrane
  • lysosomal membrane
  • trans-Golgi network transport vesicle
  • basic FUNCTION
  • crucial for regulating normal fetal growth, circulating levels of IGF2, and heart development
  • may function as a tumor suppressor gene in the liver
  • insulin-like growth factor 2, targeting IGF2 to the lysosomes for degradation
  • non mitogenic receptor tyrosine kinase, class II
  • mannose 6-phosphate receptor, cation independent
  • involved in the transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes
  • acting as an insulin-like growth factor 2 (IGF2) and mannose 6-phosphate (M6P) receptor
  • playing an important role as a tumor suppressor
  • playing a role in fetal growth
  • regulates endocytic uptake and bioavailability of IGF2 at the cell surface for signalling by IGF1R, and it mediates intracellular sorting of lysosomal enzymes
  • regulates destruction of lipid-linked oligosaccharides
  • cation-independent mannose 6-phosphate/insulin-like growth factor 2 receptor, that is the central component of endosomal transport pathways
  • is a key regulator of the early T cell signaling cascade
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • retinoic acid binding
  • binding mannose 6-phosphate IGFII receptor, cation independent
  • GGA1, GGA2 and GGA3
  • cellular repressor of E1A-stimulated genes 1 (GREG)
  • plasminogen activator, urokinase receptor (PLAUR)
  • Tail-interacting 47-kDa protein (TIP47)
  • USF2 function may contribute to down-regulation of IGF2R expression in cancer cells
  • specifically controls the balance between active and inactive LCK in resting T cells, which guarantees operative T cell effector functions
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   LOH    
    in hepatocellular carcinoma
    tumoral somatic mutation      
    in endometrial hyperplasia and other cancers (alteration of ligand binding)
    tumoral   LOH    
    in malignant adrenocortical tumor
    Susceptibility
  • oral squamous cell carcinoma
  • Variant & Polymorphism SNP
  • variants are associated with fetal growth
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Murine embryos that inherit a nonfunctional Igf2r gene from their fathers are normal whereas mice inherit the same mutated allele from their mothers die due to a major cardiac abnormalities