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

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: mouse all
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Genomic context

Location:: 6q25.3

Exon count:: 48

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (159969082..160111504)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (161215266..161357599)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (160390114..160532536)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The associations of IGF2, IGF2R and IGF2BP2 gene polymorphisms with gestational diabetes mellitus: A case-control study.
Title: The associations of IGF2, IGF2R and IGF2BP2 gene polymorphisms with gestational diabetes mellitus: A case-control study.
Dysfunction in IGF2R Pathway and Associated Perturbations in Autophagy and WNT Processes in Beckwith-Wiedemann Syndrome Cell Lines.
Title: Dysfunction in IGF2R Pathway and Associated Perturbations in Autophagy and WNT Processes in Beckwith-Wiedemann Syndrome Cell Lines.
CircTHBS1 promotes trophoblast cell migration and invasion and inhibits trophoblast apoptosis by regulating miR-136-3p/IGF2R axis.
Title: CircTHBS1 promotes trophoblast cell migration and invasion and inhibits trophoblast apoptosis by regulating miR-136-3p/IGF2R axis.
AP-1gamma2 is an adaptor protein 1 variant required for endosome-to-Golgi trafficking of the mannose-6-P receptor (CI-MPR) and ATP7B copper transporter.
Title: AP-1γ2 is an adaptor protein 1 variant required for endosome-to-Golgi trafficking of the mannose-6-P receptor (CI-MPR) and ATP7B copper transporter.
Cation-independent mannose 6-phosphate receptor: From roles and functions to targeted therapies.
Title: Cation-independent mannose 6-phosphate receptor: From roles and functions to targeted therapies.
Proteomics analysis of cancer tissues identifies IGF2R as a potential therapeutic target in laryngeal carcinoma.
Title: Proteomics analysis of cancer tissues identifies IGF2R as a potential therapeutic target in laryngeal carcinoma.
Involvement of CASP9 (caspase 9) in IGF2R/CI-MPR endosomal transport.
Title: Involvement of CASP9 (caspase 9) in IGF2R/CI-MPR endosomal transport.
Tissue plasminogen activator is a ligand of cation-independent mannose 6-phosphate receptor and consists of glycoforms that contain mannose 6-phosphate.
Title: Tissue plasminogen activator is a ligand of cation-independent mannose 6-phosphate receptor and consists of glycoforms that contain mannose 6-phosphate.
IGF IIRalpha-triggered pathological manifestations in the heart aggravate renal inflammation in STZ-induced type-I diabetes rats.
Title: IGF IIRα-triggered pathological manifestations in the heart aggravate renal inflammation in STZ-induced type-I diabetes rats.
The role of insulin-like growth factor in Acrochordon Etiopathology.
Title: The role of insulin-like growth factor in Acrochordon Etiopathology.

Submit: New GeneRIF Correction See all GeneRIFs (137)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

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 EBI GWAS CatalogPubMed
Genome-wide association study of chronic periodontitis in a general German population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-81303 (e-PCR)
- UniSTS:102671

PMC23366P1 (e-PCR)
- UniSTS:272196

PMC23366P2 (e-PCR)
- UniSTS:272197

PMC23366P3 (e-PCR)
- UniSTS:272198

PMC23366P4 (e-PCR)
- UniSTS:272199

PMC23366P6 (e-PCR)
- UniSTS:272200

PMC23366P7 (e-PCR)
- UniSTS:272201

PMC23366P8 (e-PCR)
- UniSTS:272202

PMC23366P9 (e-PCR)
- UniSTS:272203

RH35870 (e-PCR)
- UniSTS:15450

IGF2R_744 (e-PCR)
- UniSTS:277357

IGF2R_V99 (e-PCR)
- UniSTS:277357

D6S2075 (e-PCR)
- UniSTS:18294

GDB:186982 (e-PCR)
- UniSTS:155526

WI-9022 (e-PCR)
- UniSTS:70324

GDB:196396 (e-PCR)
- UniSTS:155848

SHGC-77905 (e-PCR)
- UniSTS:101350

RH1530 (e-PCR)
- UniSTS:21999

G10508 (e-PCR)
- UniSTS:55279

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables D-mannose binding	IEA Inferred from Electronic Annotation more info
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
enables insulin-like growth factor receptor activity	TAS Traceable Author Statement more info	PubMed
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	IBA Inferred from Biological aspect of Ancestor 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 more info	PubMed
located_in focal adhesion	HDA more info	PubMed
is_active_in late endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in late endosome	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	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
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
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

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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

NG_011785.4 RefSeqGene

Range

4984..147406

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1036

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AL035691, AL353625

Consensus CDS

CCDS5273.1

UniProtKB/Swiss-Prot

P11717, Q7Z7G9, Q96PT5

UniProtKB/TrEMBL

Q59EZ3

Related

ENSP00000349437.1, ENST00000356956.6

Conserved Domains (3) summary

cd00062
Location:1897 → 1942

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:423 → 573

CIMR; Cation-independent mannose-6-phosphate receptor repeat

cl39051
Location:1250 → 1365

ATG27; Autophagy-related protein 27