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

    Gene ID: 3482, updated on 8-Jul-2021

    Summary

    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
    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
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    Genomic context

    See IGF2R in Genome Data Viewer
    Location:
    6q25.3
    Exon count:
    48
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (159969082..160111504)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (160390114..160532536)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene PARN like ribonuclease domain containing exonuclease 1 Neighboring gene MAS1 proto-oncogene, G protein-coupled receptor Neighboring gene antisense of IGF2R non-protein coding RNA Neighboring gene CHP1 pseudogene 2 Neighboring gene solute carrier family 22 member 1 Neighboring gene mitochondrial import receptor subunit TOM6 homolog pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
    GeneReviews: Not available
    Genome-wide association study of chronic periodontitis in a general German population.
    GeneReviews: Not available
    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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G-protein alpha-subunit binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables enzyme binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables insulin-like growth factor II binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables insulin-like growth factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables insulin-like growth factor-activated receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables mannose binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphoprotein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables retinoic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables retromer complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables signaling receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in animal organ regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in insulin-like growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in liver development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lysosomal transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation by host of viral process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in receptor-mediated endocytosis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in response to retinoic acid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to tetrachloromethane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of clathrin coat IEA
    Inferred from Electronic Annotation
    more info
     
    located_in clathrin-coated endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in early endosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in endocytic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in focal adhesion HDA PubMed 
    located_in integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in late endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in late endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane HDA PubMed 
    located_in nuclear envelope lumen IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in secretory granule membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in trans-Golgi network IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in trans-Golgi network membrane TAS
    Traceable Author Statement
    more info
     
    located_in trans-Golgi network transport vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in transport vesicle TAS
    Traceable Author Statement
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_011785.4 RefSeqGene

      Range
      4984..147406
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1036

    mRNA and Protein(s)

    1. NM_000876.4NP_000867.3  cation-independent mannose-6-phosphate receptor precursor

      Status: REVIEWED

      Source sequence(s)
      AL035691, AL353625
      Consensus CDS
      CCDS5273.1
      Related
      ENSP00000349437.1, ENST00000356956.6
      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:423573
      CIMR; Cation-independent mannose-6-phosphate receptor repeat
      cl39051
      Location:12501365
      ATG27; Autophagy-related protein 27

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      159969082..160111504
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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