IGF2R: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

IGF2R

Aliases

CD222, CI-M6PR, CIMPR, M6P-R, M6P/IGF2R, MPR 300, MPR1, MPR300, MPRI

Entrez Gene ID

3482

Gene Name

Insulin like growth factor 2 receptor

Chromosomal Location

6q25.3

HGNC ID

HGNC:5467

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]

RefSeq DNA

NG_011785.3

RefSeq mRNA

NM_000876.3

e!Ensembl

Gene	ENSG00000197081
Transcript	ENST00000356956, ENST00000475834
Protein	ENSP00000349437, ENSP00000473880

Gene Ontology (GO)

Show/Hide all(27 )

GO ID	Ontology	Function	Evidence	Reference
GO:0006898	Biological process	Receptor-mediated endocytosis	TAS	10799489
GO:0007041	Biological process	Lysosomal transport	IBA	21873635
GO:0007165	Biological process	Signal transduction	TAS	7753549
GO:0044794	Biological process	Positive regulation by host of viral process	IMP	20889566
GO:0005768	Cellular component	Endosome	IBA	21873635
GO:0005768	Cellular component	Endosome	IDA	15078902
GO:0005769	Cellular component	Early endosome	IMP	17959629
GO:0005770	Cellular component	Late endosome	IBA	21873635
GO:0005770	Cellular component	Late endosome	IDA	22456507
GO:0005802	Cellular component	Trans-Golgi network	IBA	21873635
GO:0005802	Cellular component	Trans-Golgi network	IMP	17959629
GO:0005886	Cellular component	Plasma membrane	IBA	21873635
GO:0005887	Cellular component	Integral component of plasma membrane	TAS	10799489
GO:0005925	Cellular component	Focal adhesion	HDA	21423176
GO:0009986	Cellular component	Cell surface	IDA	10900005
GO:0016020	Cellular component	Membrane	HDA	19946888
GO:0030139	Cellular component	Endocytic vesicle	IDA	10900005
GO:0030140	Cellular component	Trans-Golgi network transport vesicle	IDA	15078902
GO:0070062	Cellular component	Extracellular exosome	HDA	19056867, 23533145
GO:0005010	Molecular function	Insulin-like growth factor-activated receptor activity	TAS	10799489
GO:0005515	Molecular function	Protein binding	IDA	10900005
GO:0005515	Molecular function	Protein binding	IPI	10900005, 11387475, 11390366, 16977309, 17850746, 18046459, 20676133
GO:0005520	Molecular function	Insulin-like growth factor binding	IBA	21873635
GO:0005537	Molecular function	Mannose binding	IBA	21873635
GO:0038023	Molecular function	Signaling receptor activity	TAS	7753549
GO:0042802	Molecular function	Identical protein binding	IPI	22681933
GO:0051219	Molecular function	Phosphoprotein binding	IDA	10900005

Protein Information

Protein Name

Cation-independent mannose-6-phosphate receptor, 300 kDa mannose 6-phosphate receptor, CI Man-6-P receptor, IGF-II receptor, M6P/IGF2 receptor, insulin-like growth factor II receptor

Function

Transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes. Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelyosomal compartment where the low pH mediates the dissociation of the complex. This receptor also binds IGF2. Acts as a positive regulator of T-cell coactivation, by binding DPP4.

Refseq Proteins

NP_000867.2

UniProt

P11717

PDB

1JWG, 1JPL, 1LF8, 2L29, 2V5P, 1E6F, 1GP0, 1GP3, 1GQB, 2CNJ, 2L2A, 2M68, 2M6T, 2V5N, 2V5O, 5IEI

Pfam

Pfam Accession	Pfam ID
PF00878	CIMR
PF00040	fn2