AKT2 Chromosome 19

AKT serine/threonine kinase 2
10 variants 10 Health Risk

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What This Gene Does
This gene is a putative oncogene encoding a protein belonging to a subfamily of serine/threonine kinases containing SH2-like (Src homology 2-like) domains, which is involved in signaling pathways. The gene serves as an oncogene in the tumorigenesis of cancer cells For example, its overexpression contributes to the malignant phenotype of a subset of human ductal pancreatic cancers. The encoded protein is a general protein kinase capable of phophorylating several known proteins, and has also been implicated in insulin signaling. [provided by RefSeq, Nov 2019]
Gene Info
Gene Group
"Pleckstrin homology domain containing|MicroRNA protein coding host genes|AKT kinase family"
Locus Type
gene with protein product
Location
19q13.2
Ensembl
ENSG00000105221
Associated Conditions (4)
Type 2 diabetes mellitus
Hypoinsulinemic hypoglycemia and body hemihypertrophy
AKT2-related disorder
Inborn genetic diseases
Key Variants
RS139479466
Conflicting classifications of pathogenicity
Type 2 diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophy, AKT2-related disorder
Health Risk
RS141209878
Conflicting classifications of pathogenicity
Hypoinsulinemic hypoglycemia and body hemihypertrophy, Type 2 diabetes mellitus, Inborn genetic diseases
Health Risk
RS142926499
Conflicting classifications of pathogenicity
Hypoinsulinemic hypoglycemia and body hemihypertrophy, Type 2 diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophy
Health Risk
RS150000674
Conflicting classifications of pathogenicity
Hypoinsulinemic hypoglycemia and body hemihypertrophy, Type 2 diabetes mellitus, AKT2-related disorder
Health Risk
RS200272953
Conflicting classifications of pathogenicity
Type 2 diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophy, Type 2 diabetes mellitus
Health Risk
RS35817154
Conflicting classifications of pathogenicity
Type 2 diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophy, Inborn genetic diseases
Health Risk
RS770347484
Conflicting classifications of pathogenicity
Type 2 diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophy, Type 2 diabetes mellitus
Health Risk
RS771065673
Conflicting classifications of pathogenicity
Inborn genetic diseases, Type 2 diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophy
Health Risk
RS121434593
Likely pathogenic
Type 2 diabetes mellitus, Type 2 diabetes mellitus
Health Risk
RS387906659
Pathogenic
Hypoinsulinemic hypoglycemia and body hemihypertrophy, Type 2 diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophy
Health Risk
All Variants (10)
RSID Category Clinical Significance Conditions
RS139479466 Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophy, AKT2-related disorder
RS141209878 Health Risk Conflicting classifications of pathogenicity Hypoinsulinemic hypoglycemia and body hemihypertrophy, Type 2 diabetes mellitus, Inborn genetic diseases
RS142926499 Health Risk Conflicting classifications of pathogenicity Hypoinsulinemic hypoglycemia and body hemihypertrophy, Type 2 diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophy
RS150000674 Health Risk Conflicting classifications of pathogenicity Hypoinsulinemic hypoglycemia and body hemihypertrophy, Type 2 diabetes mellitus, AKT2-related disorder
RS200272953 Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophy, Type 2 diabetes mellitus
RS35817154 Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophy, Inborn genetic diseases
RS770347484 Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophy, Type 2 diabetes mellitus
RS771065673 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Type 2 diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophy
RS121434593 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS387906659 Health Risk Pathogenic Hypoinsulinemic hypoglycemia and body hemihypertrophy, Type 2 diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophy
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