Gene Gene information from NCBI Gene database.
Entrez ID 208
Gene name AKT serine/threonine kinase 2
Gene symbol AKT2
Synonyms (NCBI Gene)
HIHGHHPKBBPKBBETAPRKBBRAC-BETA
Chromosome 19
Chromosome location 19q13.2
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 can
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs121434593 C>T Pathogenic Coding sequence variant, missense variant
rs387906659 C>A,T Pathogenic Stop gained, coding sequence variant, missense variant, 5 prime UTR variant
rs778561687 C>A,T Likely-pathogenic Missense variant, coding sequence variant
rs1057519754 T>C Likely-pathogenic Coding sequence variant, intron variant, missense variant
miRNA miRNA information provided by mirtarbase database.
763
miRTarBase ID miRNA Experiments Reference
MIRT000425 hsa-miR-184 qRT-PCRLuciferase reporter assayWestern blot 20409325
MIRT006104 hsa-miR-203a-3p Northern blotqRT-PCRWestern blot 21354697
MIRT006104 hsa-miR-203a-3p Northern blotqRT-PCRWestern blot 21354697
MIRT006473 hsa-miR-708-5p PC3 22552290
MIRT006473 hsa-miR-708-5p PC3 22552290
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
NFKB1 Repression 20514445
PROX1 Repression 22982861
RELA Repression 20514445
TWIST1 Activation 21876555;22982861
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
71
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IBA
GO:0004674 Function Protein serine/threonine kinase activity IDA 10983986, 16540465, 23444369
GO:0004674 Function Protein serine/threonine kinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
164731 392 ENSG00000105221
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P31751
Protein name RAC-beta serine/threonine-protein kinase (EC 2.7.11.1) (Protein kinase Akt-2) (Protein kinase B beta) (PKB beta) (RAC protein kinase beta) (RAC-PK-beta)
Protein function Serine/threonine kinase closely related to AKT1 and AKT3. All 3 enzymes, AKT1, AKT2 and AKT3, are collectively known as AKT kinase. AKT regulates many processes including metabolism, proliferation, cell survival, growth and angiogenesis, through
PDB 1GZK , 1GZN , 1GZO , 1MRV , 1MRY , 1O6K , 1O6L , 1P6S , 2JDO , 2JDR , 2UW9 , 2X39 , 2XH5 , 3D0E , 3E87 , 3E88 , 3E8D , 8Q61 , 9C1W
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 6 108 PH domain Domain
PF00069 Pkinase 152 409 Protein kinase domain Domain
PF00433 Pkinase_C 430 475 Protein kinase C terminal domain Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed in myoblasts (PubMed:17565718). {ECO:0000269|PubMed:17565718}.
Sequence
Sequence length 481
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  EGFR tyrosine kinase inhibitor resistance
Endocrine resistance
Platinum drug resistance
MAPK signaling pathway
ErbB signaling pathway
Ras signaling pathway
Rap1 signaling pathway
cGMP-PKG signaling pathway
cAMP signaling pathway
Chemokine signaling pathway
HIF-1 signaling pathway
FoxO signaling pathway
Sphingolipid signaling pathway
Phospholipase D signaling pathway
Autophagy - animal
mTOR signaling pathway
PI3K-Akt signaling pathway
AMPK signaling pathway
Apoptosis
Longevity regulating pathway
Longevity regulating pathway - multiple species
Cellular senescence
Adrenergic signaling in cardiomyocytes
VEGF signaling pathway
Apelin signaling pathway
Osteoclast differentiation
Focal adhesion
Signaling pathways regulating pluripotency of stem cells
Platelet activation
Neutrophil extracellular trap formation
Toll-like receptor signaling pathway
C-type lectin receptor signaling pathway
JAK-STAT signaling pathway
T cell receptor signaling pathway
B cell receptor signaling pathway
Fc epsilon RI signaling pathway
Fc gamma R-mediated phagocytosis
TNF signaling pathway
Neurotrophin signaling pathway
Cholinergic synapse
Dopaminergic synapse
Regulation of actin cytoskeleton
Insulin signaling pathway
Progesterone-mediated oocyte maturation
Estrogen signaling pathway
Prolactin signaling pathway
Thyroid hormone signaling pathway
Adipocytokine signaling pathway
Glucagon signaling pathway
Regulation of lipolysis in adipocytes
Relaxin signaling pathway
GnRH secretion
Insulin resistance
Non-alcoholic fatty liver disease
AGE-RAGE signaling pathway in diabetic complications
Growth hormone synthesis, secretion and action
Alcoholic liver disease
Carbohydrate digestion and absorption
Alzheimer disease
Spinocerebellar ataxia
Shigellosis
Salmonella infection
Yersinia infection
Chagas disease
Toxoplasmosis
Tuberculosis
Hepatitis C
Hepatitis B
Measles
Human cytomegalovirus infection
Influenza A
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Pathways in cancer
Proteoglycans in cancer
Chemical carcinogenesis - receptor activation
Chemical carcinogenesis - reactive oxygen species
Colorectal cancer
Renal cell carcinoma
Pancreatic cancer
Endometrial cancer
Glioma
Prostate cancer
Melanoma
Chronic myeloid leukemia
Acute myeloid leukemia
Small cell lung cancer
Non-small cell lung cancer
Breast cancer
Hepatocellular carcinoma
Gastric cancer
Central carbon metabolism in cancer
Choline metabolism in cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
Diabetic cardiomyopathy
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis
  PIP3 activates AKT signaling
Downregulation of ERBB2:ERBB3 signaling
Activation of AKT2
Inhibition of TSC complex formation by PKB
AKT phosphorylates targets in the cytosol
AKT phosphorylates targets in the nucleus
Negative regulation of the PI3K/AKT network
AKT-mediated inactivation of FOXO1A
Deactivation of the beta-catenin transactivating complex
CD28 dependent PI3K/Akt signaling
CTLA4 inhibitory signaling
G beta:gamma signalling through PI3Kgamma
VEGFR2 mediated vascular permeability
TP53 Regulates Metabolic Genes
Constitutive Signaling by AKT1 E17K in Cancer
Regulation of TP53 Degradation
Regulation of TP53 Activity through Acetylation
Regulation of TP53 Activity through Association with Co-factors
Cyclin E associated events during G1/S transition
Cyclin A:Cdk2-associated events at S phase entry
RAB GEFs exchange GTP for GDP on RABs
Regulation of PTEN stability and activity
Regulation of localization of FOXO transcription factors
Estrogen-dependent nuclear events downstream of ESR-membrane signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hypoinsulinemic hypoglycemia and body hemihypertrophy Pathogenic rs387906659 RCV000022676
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Type 2 diabetes mellitus Likely pathogenic; Pathogenic rs121434593, rs387906659 RCV000015016
RCV005222699
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AKT2-related disorder Conflicting classifications of pathogenicity; Uncertain significance; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AKT2-RELATED FAMILIAL PARTIAL LIPODYSTROPHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acanthosis Nigricans Acanthosis Nigricans HPO_DG
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 15102693
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 27189341, 9496907
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer CGI_DG
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 17047397, 21182834, 21387307, 30942957
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 25285168
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 28026019
★☆☆☆☆
Found in Text Mining only
AKT2-related familial partial lipodystrophy Lipodystrophy Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 18492751
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 24642468
★☆☆☆☆
Found in Text Mining only