Gene: AKT2

Alternate names for this Gene: HIHGHH|PKBB|PKBBETA|PRKBB|RAC-BETA

Gene Summary: 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.2

Description of this Gene: AKT serine/threonine kinase 2

Type of Gene: protein-coding

rs1057519754 in AKT2 gene and Colorectal Neoplasms PMID 16094359 2005 Colorectal cancer: mutations in a signalling pathway.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs121434593 in AKT2 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 19164855 2009 Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis.

PMID 22962670 2012 Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline.

PMID 15166380 2004 A family with severe insulin resistance and diabetes due to a mutation in AKT2.

PMID 23492873 2013 Recommendations from the EGAPP Working Group: does genomic profiling to assess type 2 diabetes risk improve health outcomes?

rs387906659 in AKT2 gene and HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY PMID 21979934 2011 An activating mutation of AKT2 and human hypoglycemia.

rs16974157 in AKT2 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs778561687 in AKT2 gene and Non-Small Cell Lung Carcinoma PMID 21479466 2012 AKT1 and AKT2 mutations in lung cancer in a Japanese population.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.