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
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