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    IGF2R insulin like growth factor 2 receptor [ Homo sapiens (human) ]

    Gene ID: 3482, updated on 8-Jul-2018
    Official Symbol
    IGF2Rprovided by HGNC
    Official Full Name
    insulin like growth factor 2 receptorprovided by HGNC
    Primary source
    HGNC:HGNC:5467
    See related
    Ensembl:ENSG00000197081 MIM:147280; Vega:OTTHUMG00000015945
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MPR1; MPRI; CD222; CIMPR; M6P-R; MPR300; CI-M6PR; MPR 300; M6P/IGF2R
    Summary
    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]
    Expression
    Ubiquitous expression in spleen (RPKM 12.4), fat (RPKM 11.5) and 25 other tissues See more
    Orthologs
    See IGF2R in Genome Data Viewer
    Location:
    6q25.3
    Exon count:
    48
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (159969099..160111504)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (160390131..160527583)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378087 Neighboring gene MAS1 proto-oncogene, G protein-coupled receptor Neighboring gene antisense of IGF2R non-protein coding RNA Neighboring gene calcineurin like EF-hand protein 1 pseudogene Neighboring gene solute carrier family 22 member 1 Neighboring gene mitochondrial import receptor subunit TOM6 homolog pseudogene

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Hepatocellular carcinoma
    MedGen: C2239176 OMIM: 114550 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2012-06-07)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2012-06-07)

    ClinGen Genome Curation Page

    NHGRI GWAS Catalog

    Description
    Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
    NHGRI GWA Catalog
    Genome-wide association study of chronic periodontitis in a general German population.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 Env (gp160) interacts with IGF2R; predicted interaction to be relevant to viral egress at plasma membrane/extracellular matrix PubMed
    Nef nef HIV-1 Nef ultimately sequesters IGF2 (CI-M6PR) in post Golgi compartments by disrupting the Rab9-GCC2 interaction (Rab9-GCC2 interaction recycles IGF2R from late endosome to trans Golgi network) in HEK-293 and Jurkat T cells PubMed
    capsid gag IGF2R co-localizes with HIV-1 CA in macrophages and microglia and plays a significant role in microglia as a positive regulator of HIV-1 replication PubMed

    Go to the HIV-1, Human Interaction Database

    • Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
      Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystemRecruitment of plasma membrane-localized cargo into clathrin-coated endocytic vesicles is mediated by interaction with a variety of clathrin-interacting proteins collectively called CLASPs (clathrin-...
    • Clathrin derived vesicle budding, organism-specific biosystem (from REACTOME)
      Clathrin derived vesicle budding, organism-specific biosystemThere at least two classes of clathrin coated vesicles in cells, one predominantly Golgi-associated, involved in budding from the trans-Golgi network and the other at the plasma membrane. Here the cl...
    • Clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
      Clathrin-mediated endocytosis, organism-specific biosystemClathrin-mediated endocytosis (CME) is one of a number of process that control the uptake of material from the plasma membrane, and leads to the formation of clathrin-coated vesicles (Pearse et al, 1...
    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Golgi Associated Vesicle Biogenesis, organism-specific biosystem (from REACTOME)
      Golgi Associated Vesicle Biogenesis, organism-specific biosystemProteins that have been synthesized, processed and sorted eventually reach the final steps of the secretory pathway. This pathway is responsible not only for proteins that are secreted from the cell ...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystem (from REACTOME)
      Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystemThe mammalian Golgi complex, a central hub of both anterograde and retrograde trafficking, is a ribbon of stacked cisterna with biochemically distinct compartments (reviewed in Glick and Nakano, 2009...
    • Lysosome, organism-specific biosystem (from KEGG)
      Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Lysosome, conserved biosystem (from KEGG)
      Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • Retrograde transport at the Trans-Golgi-Network, organism-specific biosystem (from REACTOME)
      Retrograde transport at the Trans-Golgi-Network, organism-specific biosystemThe trans-Golgi network is the docking site for retrograde cargo from the endolysosomal system and the plasma membrane. Typical cargo includes recycling resident TGN proteins such as TGOLN2 (also kn...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    • trans-Golgi Network Vesicle Budding, organism-specific biosystem (from REACTOME)
      trans-Golgi Network Vesicle Budding, organism-specific biosystemAfter passing through the Golgi complex, secretory cargo is packaged into post-Golgi transport intermediates (post-Golgi), which translocate plus-end directed along microtubules to the plasma membran...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    G-protein alpha-subunit binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    G-protein alpha-subunit binding IEA
    Inferred from Electronic Annotation
    more info
     
    G-protein coupled receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    G-protein coupled receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enzyme binding IEA
    Inferred from Electronic Annotation
    more info
     
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    insulin-like growth factor II binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    insulin-like growth factor II binding IEA
    Inferred from Electronic Annotation
    more info
     
    insulin-like growth factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    insulin-like growth factor-activated receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    kringle domain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mannose binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mannose binding IEA
    Inferred from Electronic Annotation
    more info
     
    phosphoprotein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phosphoprotein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    retinoic acid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    retinoic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    signaling receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    G-protein coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    animal organ regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    insulin-like growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    liver development IEA
    Inferred from Electronic Annotation
    more info
     
    lysosomal transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    lysosomal transport IEA
    Inferred from Electronic Annotation
    more info
     
    membrane organization TAS
    Traceable Author Statement
    more info
     
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    post-Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    receptor-mediated endocytosis TAS
    Traceable Author Statement
    more info
    PubMed 
    response to retinoic acid IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    response to retinoic acid IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    clathrin coat IEA
    Inferred from Electronic Annotation
    more info
     
    clathrin-coated vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    clathrin-coated vesicle membrane TAS
    Traceable Author Statement
    more info
     
    early endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    early endosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endocytic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endocytic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome HDA PubMed 
    focal adhesion HDA PubMed 
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    late endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    late endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane HDA PubMed 
    nuclear envelope lumen IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nuclear envelope lumen IEA
    Inferred from Electronic Annotation
    more info
     
    perinuclear region of cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    secretory granule membrane TAS
    Traceable Author Statement
    more info
     
    trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    trans-Golgi network IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    trans-Golgi network membrane TAS
    Traceable Author Statement
    more info
     
    trans-Golgi network transport vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    trans-Golgi network transport vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transport vesicle TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    cation-independent mannose-6-phosphate receptor
    Names
    300 kDa mannose 6-phosphate receptor
    CI Man-6-P receptor
    IGF-II receptor
    M6P/IGF2 receptor
    insulin-like growth factor II receptor

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011785.3 RefSeqGene

      Range
      5001..147406
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000876.3NP_000867.2  cation-independent mannose-6-phosphate receptor precursor

      See identical proteins and their annotated locations for NP_000867.2

      Status: REVIEWED

      Source sequence(s)
      AL353625, BC010121, J03528, Y00285
      Consensus CDS
      CCDS5273.1
      UniProtKB/Swiss-Prot
      P11717
      Related
      ENSP00000349437.1, OTTHUMP00000017536, ENST00000356956.5, OTTHUMT00000042931
      Conserved Domains (3) summary
      cd00062
      Location:18971942
      FN2; Fibronectin Type II domain: FN2 is one of three types of internal repeats which combine to form larger domains within fibronectin. Fibronectin, a plasma protein that binds cell surfaces and various compounds including collagen, fibrin, heparin, DNA, and ...
      pfam00878
      Location:10311178
      CIMR; Cation-independent mannose-6-phosphate receptor repeat
      pfam02157
      Location:324477
      Man-6-P_recep; Mannose-6-phosphate receptor

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

      Range
      159969099..160111504
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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