AlphaFold predicted structure
AKT3 · Q9Y243
Mean pLDDT
82.1/ 100
Confident
479 residues
Confidence breakdown
- Very high(≥ 90)51%
- Confident(70–90)31%
- Low(50–70)8%
- Very low(< 50)10%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
AKT3
Chr 1q43-q44AKT serine/threonine kinase 3
- Aliases:
- PKBG, RAC-gamma, PRKBG
- MANE:
- ENST00000673466.1
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHydrocephalus
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownMalformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownMosaic skin disorders - deep sequencing
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedNeurological segmental overgrowth
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Disease associations (Open Targets)
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
0.80Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
0.67breast cancer
0.57megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
0.47schizophrenia
0.46overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
0.46neoplasm
0.45glioma
0.44risk-taking behaviour
0.41cancer
0.41
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
RAC-gamma serine/threonine-protein kinase
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 through serine and/or threonine phosphorylation of a range of downstream substrates. Over 100 substrate candidates have been reported so far, but for most of them, no isoform specificity has been reported. AKT3 is the least studied AKT isoform. It plays an important role in brain development and is crucial for the viability of malignant glioma cells. AKT3 isoform may also be the key molecule in up-regulation and down-regulation of MMP13 via IL13. Required for the coordination of mitochondrial biogenesis with growth factor-induced increases in cellular energy demands. Down-regulation by RNA interference reduces the expression of the phosphorylated form of BAD, resulting in the induction of caspase-dependent apoptosis
Diseases associated with AKT3
Curated MONDO disease pages that list AKT3 among their top associated genes.