Home > Gene Browser > IGF2R

IGF2R

Synonyms
CD222, CI-M6PR, CIMPR, M6P-R, M6P/IGF2R, MPR 300, MPR1, MPR300, MPRI
External resources
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).

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
9
Likely pathogenic
0
VUS
2,846
Likely benign
8,185
Benign
0

Patient phenotypes

Proportions of phenotypes among 9 patients carring pathogenic or likely pathogenic variants on IGF2R gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
77.8%
Abnormality of the eye
33.3%
Abnormality of the cardiovascular system
22.2%
Abnormality of the musculoskeletal system
22.2%
Abnormality of head or neck
11.1%
Abnormality of limbs
11.1%
Abnormality of the ear
11.1%
Abnormality of the integument
11.1%
Growth abnormality
11.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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