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

Gene ID: 3482, updated on 3-May-2020

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

Genomic context

See IGF2R in Genome Data Viewer
Location:
6q25.3
Exon count:
48
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (159969082..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 PARN like, ribonuclease domain containing 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
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

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
G-protein alpha-subunit binding 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 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 
mannose binding IEA
Inferred from Electronic Annotation
more info
 
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 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 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 by host of viral process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
post-embryonic development IEA
Inferred from Electronic Annotation
more info
 
receptor-mediated endocytosis TAS
Traceable Author Statement
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 membrane TAS
Traceable Author Statement
more info
 
early endosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
endocytic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
endosome IBA
Inferred from Biological aspect of Ancestor
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 IEA
Inferred from Electronic Annotation
more info
 
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 IDA
Inferred from Direct Assay
more info
PubMed 
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)

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_000876.4NP_000867.3  cation-independent mannose-6-phosphate receptor precursor

    Status: REVIEWED

    Source sequence(s)
    AL035691, AL353625
    Consensus CDS
    CCDS5273.1
    Related
    ENSP00000349437.1, ENST00000356956.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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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