IGF1R Chromosome 15
Insulin like growth factor 1 receptor
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What This Gene Does
This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
Gene Info
Gene Group
"CD molecules|Fibronectin type III domain containing|MicroRNA protein coding host genes|Insulin receptor family"
Locus Type
gene with protein product
Location
15q26.3
Ensembl
ENSG00000140443
Associated Conditions (7)
Growth delay due to insulin-like growth factor I resistance
IGF1R-related disorder
Inborn genetic diseases
NK-cell enteropathy
Neurodevelopmental disorder
Microcephaly
Intellectual disability
Key Variants
RS117440569
Conflicting classifications of pathogenicity
Growth delay due to insulin-like growth factor I resistance, IGF1R-related disorder, Growth delay due to insulin-like growth factor I resistance
Health Risk
RS1250642880
Conflicting classifications of pathogenicity
Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
Health Risk
RS141802822
Conflicting classifications of pathogenicity
Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
Health Risk
RS144739747
Conflicting classifications of pathogenicity
Growth delay due to insulin-like growth factor I resistance, IGF1R-related disorder, Growth delay due to insulin-like growth factor I resistance
Health Risk
RS145668206
Conflicting classifications of pathogenicity
Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
Health Risk
RS146902252
Conflicting classifications of pathogenicity
Health Risk
RS149417802
Conflicting classifications of pathogenicity
Health Risk
RS1596476159
Conflicting classifications of pathogenicity
Growth delay due to insulin-like growth factor I resistance, Inborn genetic diseases, Growth delay due to insulin-like growth factor I resistance
Health Risk
RS200261849
Conflicting classifications of pathogenicity
Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
Health Risk
RS200740840
Conflicting classifications of pathogenicity
Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
Health Risk
RS201351992
Conflicting classifications of pathogenicity
Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
Health Risk
RS202060277
Conflicting classifications of pathogenicity
Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
Health Risk
All Variants (104)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121912428 | Protective | protective | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS1253103806 | Protective | protective | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS1409058783 | Protective | protective | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS1555460945 | Protective | protective | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |