IGF2R
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
IGF2R (HGNC:5467) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
insulin like growth factor 2 receptor
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
CD222, MPRI, MPR1, CIMPR, M6P-R, CI-M6PR, CI-MPR, MPR300
%HI
53.96(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.42(Read more about gnomAD LOEUF score)
Cytoband
6q25.3
Genomic Coordinates
GRCh37/hg19: chr6:160390114-160532536 NCBI Ensembl UCSC
GRCh38/hg38: chr6:159969082-160111504 NCBI Ensembl UCSC
MANE Select Transcript
NM_000876.4 ENST00000356956.6 (Read more about MANE Select)
Function
Mediates the transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes (PubMed:2963003, PubMed:18817523). 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 prelysosomal compartment where the low pH mediates the dissociation of the complex (PubMed:2963003, PubMed:18817523). The receptor is then recycled back t... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-11959
ClinGen Curation ID:
CCID:007317
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
06/07/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
This is an imprinted gene: A small number of individuals with Russell Silver syndrome (RSS) have abnormal hypermethylation of IGF2R with normal methylation of H19 [PMID:20104244]. IGF2R has been proposed to be a tumor suppressor gene given its antagonist role on cellular growth and evidence of loss of heterozygosity in several cancers. Also, compound heterozygous sequence mutations in IGF2R have been reported in hepatocellular carcinoma (De Souza et al. 1995; PMID:7493029).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000006.11) (NC_000006.12)