IGF2R insulin like growth factor 2 receptor
Gene ID: 3482, updated on 3-Nov-2024Gene type: protein coding
Also known as: MPR1; MPRI; CD222; CIMPR; M6P-R; MPR300; CI-M6PR; MPR 300; M6P/IGF2R
- See all available tests in GTR for this gene
- Go to complete Gene record for IGF2R
- Go to Variation Viewer for IGF2R variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. GeneReviews: Not available | |
| Genome-wide association study of chronic periodontitis in a general German population. GeneReviews: Not available | |
| Hepatocellular carcinoma | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2012-06-07) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2012-06-07) ClinGen Genome Curation Page |
Genomic context
- Location:
- 6q25.3
- Sequence:
- Chromosome: 6; NC_000006.12 (159969082..160111504)
- Total number of exons:
- 48
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for IGF2R variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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