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

Gene ID: 3482, updated on 5-Jun-2022

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; AllianceGenome:HGNC:5467
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
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (159969082..160111504)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (161215266..161357599)
105.20220307 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 Sharpr-MPRA regulatory region 15614 Neighboring gene Sharpr-MPRA regulatory region 12427 Neighboring gene antisense of IGF2R non-protein coding RNA Neighboring gene uncharacterized LOC124901451 Neighboring gene uncharacterized LOC124901452 Neighboring gene CHP1 pseudogene 2 Neighboring gene solute carrier family 22 member 1

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
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

EBI GWAS Catalog

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

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 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 Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
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)

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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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    161215266..161357599
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)