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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
247
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hypoinsulinemic hypoglycemia and body hemihypertrophy Pathogenic rs387906659 RCV000022676
Type 2 diabetes mellitus Likely pathogenic; Pathogenic rs121434593, rs387906659 RCV000015016
RCV005222699
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
AKT2-related disorder Conflicting classifications of pathogenicity; Uncertain significance; Likely benign rs35817154, rs758767505, rs185154487, rs538944575, rs746610906, rs142991191, rs1048317051, rs760343615, rs56165898, rs150000674, rs139479466, rs765477884, rs141209878 RCV004751963
RCV003403977
RCV003893401
RCV003949026
RCV003921894
RCV003964590
RCV003983744
RCV003969489
RCV003902756
RCV004751572
RCV003948261
RCV003925946
RCV004751939
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acanthosis Nigricans Associate 34673243
Acute Disease Associate 21590431
Acute Pain Stimulate 21590431
Adenocarcinoma of Lung Associate 29200198, 30942957, 32211805
Arthritis Rheumatoid Associate 20419126
Breast Neoplasms Associate 14680486, 19933843, 20471940, 21297943, 22809628, 23305873, 23929892, 24838891, 27097161, 27223437, 28478612, 29667444, 31781306, 32558176, 33378961
View all (2 more)
Calcinosis Cutis Associate 27067543
Carcinogenesis Associate 23449277
Carcinoma Basal Cell Associate 22082146, 23435205
Carcinoma Hepatocellular Associate 22580126, 25424347, 26254095