INSR Chromosome 19
Insulin receptor
Upload your DNA to see your personal genotypes for variants in INSR.
What This Gene Does
This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
Gene Info
Gene Group
"CD molecules|Fibronectin type III domain containing|Insulin receptor family"
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000171105
Associated Conditions (16)
Leprechaunism syndrome
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Rabson-Mendenhall syndrome
Hyperinsulinism due to INSR deficiency
Clear cell carcinoma of kidney
Inborn genetic diseases
INSR-related disorder
Nonpapillary renal cell carcinoma
Monogenic diabetes
Type 2 diabetes mellitus
Bailey-Bloch congenital myopathy
Insulin resistance
Gastric cancer
46
XY disorder of sex development
Insulin-resistant diabetes mellitus
Key Variants
RS111502197
Conflicting classifications of pathogenicity
Leprechaunism syndrome, Insulin-resistant diabetes mellitus AND acanthosis nigricans, Rabson-Mendenhall syndrome
Health Risk
RS111993466
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS121913136
Conflicting classifications of pathogenicity
Leprechaunism syndrome, INSR-related disorder, Leprechaunism syndrome
Health Risk
RS121913147
Conflicting classifications of pathogenicity
Insulin-resistant diabetes mellitus AND acanthosis nigricans, Rabson-Mendenhall syndrome, Leprechaunism syndrome
Health Risk
RS13306449
Conflicting classifications of pathogenicity
Leprechaunism syndrome, Insulin-resistant diabetes mellitus AND acanthosis nigricans, Rabson-Mendenhall syndrome
Health Risk
RS1347473020
Conflicting classifications of pathogenicity
INSR-related disorder, INSR-related disorder
Health Risk
RS138528064
Conflicting classifications of pathogenicity
INSR-related disorder, INSR-related disorder
Health Risk
RS140573575
Conflicting classifications of pathogenicity
Health Risk
RS140852238
Conflicting classifications of pathogenicity
Insulin-resistant diabetes mellitus AND acanthosis nigricans, Insulin-resistant diabetes mellitus AND acanthosis nigricans
Health Risk
RS142391704
Conflicting classifications of pathogenicity
Insulin-resistant diabetes mellitus AND acanthosis nigricans, Rabson-Mendenhall syndrome, Leprechaunism syndrome
Health Risk
RS142654992
Conflicting classifications of pathogenicity
Insulin-resistant diabetes mellitus AND acanthosis nigricans, Leprechaunism syndrome, Rabson-Mendenhall syndrome
Health Risk
RS142910337
Conflicting classifications of pathogenicity
Monogenic diabetes, INSR-related disorder, Monogenic diabetes
Health Risk
All Variants (110)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS78433961 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Rabson-Mendenhall syndrome, Insulin-resistant diabetes mellitus AND acanthosis nigricans |
| RS797045625 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS80330850 | Health Risk | Conflicting classifications of pathogenicity | Leprechaunism syndrome, Rabson-Mendenhall syndrome, Insulin-resistant diabetes mellitus AND acanthosis nigricans |
| RS868296217 | Health Risk | Conflicting classifications of pathogenicity | Leprechaunism syndrome, Insulin-resistant diabetes mellitus AND acanthosis nigricans, Rabson-Mendenhall syndrome |
| RS9282757 | Health Risk | Conflicting classifications of pathogenicity | Rabson-Mendenhall syndrome, Leprechaunism syndrome, Insulin-resistant diabetes mellitus AND acanthosis nigricans |
| RS957304581 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS121913148 | Health Risk | Likely pathogenic | Insulin-resistant diabetes mellitus AND acanthosis nigricans, Hyperinsulinism due to INSR deficiency, Rabson-Mendenhall syndrome |
| RS121913151 | Health Risk | Likely pathogenic | Leprechaunism syndrome, Leprechaunism syndrome |
| RS1419070784 | Health Risk | Likely pathogenic | — |
| RS1555736246 | Health Risk | Likely pathogenic | — |
| RS1568426700 | Health Risk | Likely pathogenic | Insulin resistance, Insulin resistance |
| RS1599874183 | Health Risk | Likely pathogenic | — |
| RS1599881881 | Health Risk | Likely pathogenic | — |
| RS1599937180 | Health Risk | Likely pathogenic | Hyperinsulinism due to INSR deficiency, Hyperinsulinism due to INSR deficiency |
| RS1967775472 | Health Risk | Likely pathogenic | Rabson-Mendenhall syndrome, Rabson-Mendenhall syndrome |
| RS1972802448 | Health Risk | Likely pathogenic | Leprechaunism syndrome, Leprechaunism syndrome |
| RS2144790591 | Health Risk | Likely pathogenic | — |
| RS2144813778 | Health Risk | Likely pathogenic | — |
| RS2145210376 | Health Risk | Likely pathogenic | — |
| RS2512363368 | Health Risk | Likely pathogenic | Leprechaunism syndrome, Gastric cancer, Leprechaunism syndrome |
| RS2512389876 | Health Risk | Likely pathogenic | 46, XY disorder of sex development, 46 |
| RS2512519713 | Health Risk | Likely pathogenic | INSR-related disorder, INSR-related disorder |
| RS752552480 | Health Risk | Likely pathogenic | — |
| RS761203947 | Health Risk | Likely pathogenic | — |
| RS121913135 | Health Risk | Pathogenic | Insulin-resistant diabetes mellitus AND acanthosis nigricans, Insulin-resistant diabetes mellitus AND acanthosis nigricans |
| RS121913137 | Health Risk | Pathogenic | Leprechaunism syndrome, Leprechaunism syndrome |
| RS121913138 | Health Risk | Pathogenic | Insulin-resistant diabetes mellitus AND acanthosis nigricans, Insulin-resistant diabetes mellitus AND acanthosis nigricans |
| RS121913139 | Health Risk | Pathogenic | Insulin resistance, Insulin-resistant diabetes mellitus AND acanthosis nigricans, Insulin resistance |
| RS121913140 | Health Risk | Pathogenic | Insulin-resistant diabetes mellitus AND acanthosis nigricans, Insulin-resistant diabetes mellitus AND acanthosis nigricans |
| RS121913141 | Health Risk | Pathogenic | Leprechaunism syndrome, Leprechaunism syndrome |
| RS121913142 | Health Risk | Pathogenic | Insulin-resistant diabetes mellitus, Insulin-resistant diabetes mellitus |
| RS121913143 | Health Risk | Pathogenic | Rabson-Mendenhall syndrome, Rabson-Mendenhall syndrome |
| RS121913144 | Health Risk | Pathogenic | Rabson-Mendenhall syndrome, Insulin-resistant diabetes mellitus AND acanthosis nigricans, Rabson-Mendenhall syndrome |
| RS121913145 | Health Risk | Pathogenic | Leprechaunism syndrome, Leprechaunism syndrome |
| RS121913146 | Health Risk | Pathogenic | Insulin-resistant diabetes mellitus AND acanthosis nigricans, Insulin-resistant diabetes mellitus AND acanthosis nigricans |
| RS121913150 | Health Risk | Pathogenic | Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS121913152 | Health Risk | Pathogenic | Leprechaunism syndrome, Leprechaunism syndrome |
| RS121913153 | Health Risk | Pathogenic | Leprechaunism syndrome, Leprechaunism syndrome |
| RS121913154 | Health Risk | Pathogenic | Insulin-resistant diabetes mellitus AND acanthosis nigricans, Insulin-resistant diabetes mellitus AND acanthosis nigricans |
| RS121913155 | Health Risk | Pathogenic | Leprechaunism syndrome, Leprechaunism syndrome |
| RS121913156 | Health Risk | Pathogenic | Insulin-resistant diabetes mellitus AND acanthosis nigricans, Hyperinsulinism due to INSR deficiency, Insulin-resistant diabetes mellitus AND acanthosis nigricans |
| RS121913158 | Health Risk | Pathogenic | Leprechaunism syndrome, Leprechaunism syndrome |
| RS121913159 | Health Risk | Pathogenic | Leprechaunism syndrome, Leprechaunism syndrome |
| RS121913160 | Health Risk | Pathogenic | Leprechaunism syndrome, Leprechaunism syndrome |
| RS1347163319 | Health Risk | Pathogenic | — |
| RS1967766760 | Health Risk | Pathogenic | Leprechaunism syndrome, Leprechaunism syndrome |
| RS2144950571 | Health Risk | Pathogenic | — |
| RS2512285101 | Health Risk | Pathogenic | — |
| RS2512519945 | Health Risk | Pathogenic | — |
| RS2512557187 | Health Risk | Pathogenic | — |