IGF2R

Gene Information
 
Gene Symbol
IGF2R
 
Aliases
CD222, CIMPR, M6P-R, MPR1, MPRI
 
Entrez Gene ID
 
Gene Name
Insulin-like growth factor 2 receptor
 
Chromosomal Location
6q25-q27
 
HGNC ID
 
Summary
This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate, although the binding sites for either are located on different segments of the receptor. This receptor functions in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. While the related mouse gene shows exclusive expression from the maternal allele, imprinting of the human gene appears to be polymorphic, with only a minority of individuals showing expression from the maternal allele. (provided by RefSeq, Apr 2013)
 
GeneCards ID
 
UniGene
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0006898 Biological process Receptor-mediated endocytosis TAS 10799489
GO:0007165 Biological process Signal transduction TAS 7753549
GO:0048009 Biological process Insulin-like growth factor receptor signaling pathway TAS 10799489
GO:0005768 Cellular component Endosome IDA 15078902
GO:0005887 Cellular component Integral component of plasma membrane TAS 10799489
Protein Information
 
Protein Name
Cation-independent mannose-6-phosphate 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
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00040 fn2 Fibronectin type II domain
PF00878 CIMR Cation-independent mannose-6-phosphate receptor repeat
 
KEGG
 
OMIM

Associated Diseases

Diseases References
Abnormal folliculogenesis 22951915
Cardiometabolic disease 22904171
Diabetes mellitus 22904171
Inflammation 22904171
Polycystic ovary syndrome (PCOS) 20528206
   
References
 
Primary:

Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome.

Haouzi D, Assou S, Monzo C, Vincens C, Dechaud H, Hamamah S
CHU Montpellier, Institut de Recherche en Biotherapie, Hopital Saint-Eloi, Montpellier F-34295, France.
Hum Reprod. 2012 Dec;27(12):3523-30. doi: 10.1093/humrep/des325. Epub 2012 Sep 4.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
Epidermal growth factor-like (EGFR, EREG and AREG),IGF-like families (IGF1R, IGF2R, IGF2BP2 and IGFBP2),CYP11A1, CYP1B1, CYP19A1 and CYP2B7P1 
Abnormal folliculogenesis and reduced oocyte competence 
 
Rotterdam Criteria 
Related 
 
Specifically, CCs from women with PCOS were characterized by abnormal expression of many growth factors, including members of the epidermal growth factor-like (EGFR, EREG and AREG) and IGF-like families (IGF1R, IGF2R, IGF2BP2 and IGFBP2), that are known to play a role in oocyte competence. 

 

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