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Gene : IGF2R Homo sapiens

Name  ? insulin like growth factor 2 receptor Cytological Location  6q25.3
Brief Description  insulin like growth factor 2 receptor
Description  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]
  • synonyms:
  • MPR1,
  • MPR1,
  • CI-M6PR,
  • IGF2R,
  • M6P/IGF2R,
  • cation-independent mannose-6 phosphate receptor,
  • insulin-like growth factor 2 receptor,
  • M6P-R,
  • CIMPR,
  • M6P-R,
  • CD222,
  • OTTHUMG00000015945,
  • CIMPR,
  • NM_000876,
  • CI-MPR,
  • MPRI,
  • CD222,
  • MPR300,
  • MPR300,
  • J03528,
  • CI-M6PR,
  • MPRI,
  • MPR 300,
  • uc003qta.4,
  • HGNC:5467
  • identifiers:
  • 3482,
  • ENSG00000197081,
  • IGF2R

Genome feature

Region: gene ? Length: 142406  
Location: 6:159969099-160111504 Cyto location: 6q25.3


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

584 SN Ps

5 Cross References

20 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results