Gene Gene information from NCBI Gene database.
Entrez ID 10000
Gene name AKT serine/threonine kinase 3
Gene symbol AKT3
Synonyms (NCBI Gene)
MPPHMPPH2PKB-GAMMAPKBGPRKBGRAC-PK-gammaRAC-gammaSTK-2
Chromosome 1
Chromosome location 1q43-q44
Summary 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.
7
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.
717
miRTarBase ID miRNA Experiments Reference
MIRT003099 hsa-miR-122-5p Luciferase reporter assayqRT-PCR 19296470
MIRT003334 hsa-miR-15a-5p Review 20026422
MIRT003329 hsa-miR-16-5p Review 20026422
MIRT006197 hsa-miR-519d-3p Luciferase reporter assayWestern blot 22262409
MIRT006197 hsa-miR-519d-3p Luciferase reporter assayWestern blot 22262409
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611223 393 ENSG00000117020
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
34
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
AKT3-related disorder Likely pathogenic; Pathogenic rs587776935 RCV004532479
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Capillary hemangioma Likely pathogenic; Pathogenic rs587776935 RCV000415230
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cns neuroblastoma with FOXR2 activation Pathogenic rs397514606 RCV006253706
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay Likely pathogenic; Pathogenic rs587776935 RCV000415230
★★★★☆
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
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BARDET-BIEDL SYNDROME Disgenet
★★☆☆☆
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
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 29282901
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 31671832
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 17668379, 18053786, 29282901
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 33220166 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 18160256, 23873136
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial Amyotrophic lateral sclerosis BEFREE 18160256, 23873136
★☆☆☆☆
Found in Text Mining only
Aplasia Cutis Congenita Aplasia Cutis Congenita BEFREE 29282901
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 28389565
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 31470874
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 28389565
★☆☆☆☆
Found in Text Mining only