Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10000
Gene name Gene Name - the full gene name approved by the HGNC.
AKT serine/threonine kinase 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AKT3
Synonyms (NCBI Gene) Gene synonyms aliases
MPPH, MPPH2, PKB-GAMMA, PKBG, PRKBG, RAC-PK-gamma, RAC-gamma, STK-2
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q43-q44
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a member of the AKT, also called PKB, serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of b
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs397514605 T>C Pathogenic Coding sequence variant, missense variant, genic upstream transcript variant
rs397514606 C>T Pathogenic Coding sequence variant, 5 prime UTR variant, missense variant, genic upstream transcript variant
rs587776935 G>A Likely-pathogenic, pathogenic Genic downstream transcript variant, coding sequence variant, missense variant, intron variant
rs886041100 A>T Likely-pathogenic Missense variant, coding sequence variant, genic upstream transcript variant
rs1064795602 C>T Pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003099 hsa-miR-122-5p Luciferase reporter assay, qRT-PCR 19296470
MIRT003334 hsa-miR-15a-5p Review 20026422
MIRT003329 hsa-miR-16-5p Review 20026422
MIRT006197 hsa-miR-519d-3p Luciferase reporter assay, Western blot 22262409
MIRT006197 hsa-miR-519d-3p Luciferase reporter assay, Western blot 22262409
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001938 Process Positive regulation of endothelial cell proliferation IMP 25323119
GO:0004672 Function Protein kinase activity IEA
GO:0004672 Function Protein kinase activity TAS 10092583
GO:0004674 Function Protein serine/threonine kinase activity IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611223 393 ENSG00000117020
Protein
UniProt ID Q9Y243
Protein name RAC-gamma serine/threonine-protein kinase (EC 2.7.11.1) (Protein kinase Akt-3) (Protein kinase B gamma) (PKB gamma) (RAC-PK-gamma) (STK-2)
Protein function AKT3 is one of 3 closely related serine/threonine-protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, and which regulate many processes including metabolism, proliferation, cell survival, growth and angiogenesis. This is mediated throug
PDB 2X18 , 8ZXW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 6 107 PH domain Domain
PF00069 Pkinase 148 405 Protein kinase domain Domain
PF00433 Pkinase_C 426 473 Protein kinase C terminal domain Family
Tissue specificity TISSUE SPECIFICITY: In adult tissues, it is highly expressed in brain, lung and kidney, but weakly in heart, testis and liver. In fetal tissues, it is highly expressed in heart, liver and brain and not at all in kidney.
Sequence
Sequence length 479
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 rs397514605, rs397514606, rs886041100, rs1064795602, rs587776935 N/A
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome megalencephaly-capillary malformation-polymicrogyria syndrome rs397514605 N/A
neoplasm Neoplasm rs587776935 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Glioblastoma Glioblastoma N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome N/A N/A GenCC
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 33220166
Atherosclerosis Associate 34103010
Autistic Disorder Associate 28969385
Brain Diseases Associate 36226386
Breast Neoplasms Associate 10419456, 22722202, 23929892, 25927147, 27297869, 28160548, 29636477, 31781306, 32444848, 37834358, 40403210
Burkitt Lymphoma Associate 19759907
Carcinogenesis Associate 28733453
Carcinoma Hepatocellular Associate 25424347, 26002580, 33289700, 38033034
Carcinoma Non Small Cell Lung Associate 30280779, 30873868, 34313353, 34596822
Carcinoma Ovarian Epithelial Associate 26909918