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Aliases for AKT3 Gene

Aliases for AKT3 Gene

  • AKT Serine/Threonine Kinase 3 2 3 5
  • RAC-PK-Gamma 3 4
  • EC 2.7.11.1 4 61
  • PKB Gamma 3 4
  • STK-2 3 4
  • PKBG 3 4
  • V-Akt Murine Thymoma Viral Oncogene Homolog 3 (Protein Kinase B, Gamma) 3
  • V-Akt Murine Thymoma Viral Oncogene Homolog 3 2
  • RAC-Gamma Serine/Threonine Protein Kinase 3
  • RAC-Gamma Serine/Threonine-Protein Kinase 3
  • Protein Kinase B, Gamma 2
  • Protein Kinase B Gamma 4
  • Protein Kinase Akt-3 4
  • PKB-GAMMA 3
  • RAC-Gamma 3
  • EC 2.7.11 61
  • MPPH2 3
  • PRKBG 3
  • MPPH 3

External Ids for AKT3 Gene

Previous GeneCards Identifiers for AKT3 Gene

  • GC01M241568
  • GC01M238913
  • GC01M239853
  • GC01M240598
  • GC01M239977
  • GC01M241718
  • GC01M243653
  • GC01M214031

Summaries for AKT3 Gene

Entrez Gene Summary for AKT3 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 biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for AKT3 Gene

AKT3 (AKT Serine/Threonine Kinase 3) is a Protein Coding gene. Diseases associated with AKT3 include Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 and Mpph Syndrome. Among its related pathways are VEGF Signaling Pathway and Signaling by GPCR. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is AKT1.

UniProtKB/Swiss-Prot for AKT3 Gene

  • 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.

Tocris Summary for AKT3 Gene

  • Akt (Protein kinase B, PKB) is a serine/threonine kinase that plays a key in regulating cell survival, insulin signaling, angiogenesis and tumor formation. Akt is a downstream mediator of the PI 3-K pathway, which results in the recruitment of Akt to the plasma membrane.

Gene Wiki entry for AKT3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AKT3 Gene

Genomics for AKT3 Gene

Regulatory Elements for AKT3 Gene

Enhancers for AKT3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F243420 2.5 FANTOM5 Ensembl ENCODE 10.5 +429.7 429677 2.0 HDAC1 PKNOX1 TBL1XR1 DEAF1 ZNF2 RAD21 CREM ZNF680 CBFB CEBPB AKT3 CEP170 SDCCAG8 PIR38464 GC01P243396
GH01F243477 0.4 FANTOM5 5.6 +373.1 373108 0.3 SCRT1 SCRT2 AKT3 CEP170 SDCCAG8 GC01P243494 PIR38464
GH01F244318 0.9 FANTOM5 Ensembl ENCODE 5 -471.6 -471629 9.0 PKNOX1 WRNIP1 YY1 ZNF121 CBX5 FOS ZNF202 SP5 JUNB REST ADSS C1orf100 ENSG00000236031 AKT3 LOC105373262 GC01M244263
GH01F244298 1.1 FANTOM5 Ensembl ENCODE 4.6 -450.7 -450722 6.8 PKNOX1 ARNT CREB3L1 SIN3A ZNF2 YY1 CBX5 ZNF143 FOS KLF13 LOC101928068 COX20 ENSG00000236031 ADSS AKT3 LOC105373262 GC01M244263
GH01F244341 1.2 FANTOM5 Ensembl ENCODE 4.3 -490.8 -490763 1.5 HDAC1 PKNOX1 BACH1 ZNF316 FOXK2 PATZ1 SMARCC2 FOS NFE2 MAFK LOC101928068 COX20 ENSG00000236031 AKT3 ADSS C1orf100 LOC105373262
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around AKT3 on UCSC Golden Path with GeneCards custom track

Promoters for AKT3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000672692 779 3001 ZFP64 SIN3A ZNF2 GLIS2 KLF7 KLF13 ZNF202 ZNF263 SP3 YY2

Genomic Location for AKT3 Gene

Chromosome:
1
Start:
243,488,233 bp from pter
End:
243,851,079 bp from pter
Size:
362,847 bases
Orientation:
Minus strand

Genomic View for AKT3 Gene

Genes around AKT3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AKT3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AKT3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AKT3 Gene

Proteins for AKT3 Gene

  • Protein details for AKT3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y243-AKT3_HUMAN
    Recommended name:
    RAC-gamma serine/threonine-protein kinase
    Protein Accession:
    Q9Y243
    Secondary Accessions:
    • Q0VAA6
    • Q5VTI1
    • Q5VTI2
    • Q96QV3
    • Q9UFP5

    Protein attributes for AKT3 Gene

    Size:
    479 amino acids
    Molecular mass:
    55775 Da
    Quaternary structure:
    • Interacts (via PH domain) with TCL1A; this enhances AKT3 phosphorylation and activation. Interacts with TRAF6. Interacts with KCTD20 (By similarity). Interacts with BTBD10 (By similarity).

    Three dimensional structures from OCA and Proteopedia for AKT3 Gene

    Alternative splice isoforms for AKT3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AKT3 Gene

Post-translational modifications for AKT3 Gene

  • O-GlcNAcylation at Thr-302 and Thr-309 inhibits activating phosphorylation at Thr-305 via disrupting the interaction between AKT and PDK1.
  • Phosphorylation on Thr-305 and Ser-472 is required for full activity.
  • Ubiquitinated. When fully phosphorylated and translocated into the nucleus, undergoes Lys-48-polyubiquitination catalyzed by TTC3, leading to its degradation by the proteasome.
  • Glycosylation at Thr 302 and Thr 309
  • Modification sites at PhosphoSitePlus

Domains & Families for AKT3 Gene

Suggested Antigen Peptide Sequences for AKT3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y243

UniProtKB/Swiss-Prot:

AKT3_HUMAN :
  • Binding of the PH domain to the phosphatidylinositol 3-kinase alpha (PI(3)K) results in its targeting to the plasma membrane.
  • Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. RAC subfamily.
Domain:
  • Binding of the PH domain to the phosphatidylinositol 3-kinase alpha (PI(3)K) results in its targeting to the plasma membrane.
  • Contains 1 AGC-kinase C-terminal domain.
  • Contains 1 PH domain.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. RAC subfamily.
genes like me logo Genes that share domains with AKT3: view

Function for AKT3 Gene

Molecular function for AKT3 Gene

GENATLAS Biochemistry:
V-akt murine thymoma viral oncogen homolog 3,general mediator of cell survival,induced by insulin growth factor 1,AKT3 and others,widely expressed but not in liver and skeletal muscle
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=87.9 uM for ATP (for purified and in vitro activated AKT3) {ECO:0000269 PubMed:16540465}; KM=12.4 uM for peptide substrate (for purified and in vitro activated AKT3) {ECO:0000269 PubMed:16540465}; KM=118.7 uM for ATP (for recombinant myristoylated AKT3 expressed and immunoprecipitated from Rat-1 cells) {ECO:0000269 PubMed:16540465}; KM=2.3 uM for peptide substrate (for recombinant myristoylated AKT3 expressed and immunoprecipitated from Rat-1 cells) {ECO:0000269 PubMed:16540465};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot EnzymeRegulation:
Two specific sites, one in the kinase domain (Thr-305) and the other in the C-terminal regulatory region (Ser-472), need to be phosphorylated for its full activation (By similarity). IGF-1 leads to the activation of AKT3, which may play a role in regulating cell survival.
UniProtKB/Swiss-Prot 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 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.

Enzyme Numbers (IUBMB) for AKT3 Gene

Gene Ontology (GO) - Molecular Function for AKT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity TAS 10092583
GO:0004674 protein serine/threonine kinase activity IDA 16540465
GO:0005515 protein binding IPI 12176997
GO:0005524 ATP binding IDA 16540465
genes like me logo Genes that share ontologies with AKT3: view
genes like me logo Genes that share phenotypes with AKT3: view

Human Phenotype Ontology for AKT3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AKT3 Gene

MGI Knock Outs for AKT3:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for AKT3 Gene

Localization for AKT3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AKT3 Gene

Nucleus. Cytoplasm. Membrane; Peripheral membrane protein. Note=Membrane-associated after cell stimulation leading to its translocation.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AKT3 Gene COMPARTMENTS Subcellular localization image for AKT3 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
nucleus 5
plasma membrane 5
cytoskeleton 1
extracellular 1
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for AKT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with AKT3: view

Pathways & Interactions for AKT3 Gene

SuperPathways for AKT3 Gene

SuperPathway Contained pathways
1 RET signaling
2 Translation Insulin regulation of translation
3 Glioma
.51
.43
4 Common Cytokine Receptor Gamma-Chain Family Signaling Pathways
5 Development HGF signaling pathway
genes like me logo Genes that share pathways with AKT3: view

Pathways by source for AKT3 Gene

SIGNOR curated interactions for AKT3 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for AKT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000002 mitochondrial genome maintenance IMP 18524868
GO:0006468 protein phosphorylation TAS 10092583
GO:0007165 signal transduction IMP 18524868
GO:0016310 phosphorylation IEA --
GO:0018105 peptidyl-serine phosphorylation IBA --
genes like me logo Genes that share ontologies with AKT3: view

Drugs & Compounds for AKT3 Gene

(59) Drugs for AKT3 Gene - From: ClinicalTrials, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Anastrozole Approved, Investigational Pharma Aromatase inhibitor, Aromatase Inhibitors, Hormone therapy, Potent aromatase (CYP19) inhibitor 272
Carboplatin Approved Pharma Antitumor agent that forms platinum-DNA adducts., Platinum 1980
Everolimus Approved Pharma mTOR inhibitor, mTOR Inhibitors, Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1896
Paclitaxel Approved, Vet_approved Pharma Tubulin and Bcl2 inhibitor, Taxanes 2758
Sirolimus Approved, Investigational Pharma Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1896

(5) Additional Compounds for AKT3 Gene - From: Novoseek, Tocris, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
API-1
36707-00-3
API-2
35943-35-2

(5) Tocris Compounds for AKT3 Gene

Compound Action Cas Number
API-1 Selective Akt/PKB inhibitor. Antitumor 36707-00-3
API-2 Selective inhibitor of Akt/PKB signaling. Antitumor and antiviral 35943-35-2
FPA 124 Akt/PKB inhibitor 902779-59-3
PHT 427 Dual Akt and PDK1 inhibitor; antitumor 1191951-57-1
SC 79 Akt activator 305834-79-1

(31) ApexBio Compounds for AKT3 Gene

Compound Action Cas Number
10-DEBC hydrochloride Selective Akt/PKB inhibitor 925681-41-0
3CAI 28755-03-5
A-674563 Akt1/PKA/CDK2 inhibitor,potent and selective 552325-73-2
Afuresertib 1047644-62-1
AKT inhibitor VIII Allosteric Akt kinase inhibitor 612847-09-3
AKT Kinase Inhibitor 842148-40-7
AKT/mTOR Set I
AT13148 Multi-AGC kinase inhibitor,ATP-competitive 1056901-62-2
AT7867 Akt1/2/3 and p70S6K/PKA inhibitor 857531-00-1
AZD5363 AKT inhibitor,pyrrolopyrimidine derived 1143532-39-1
BX795 PDK1 inhibitor 702675-74-9
CCT128930 AKT inhibitor 885499-61-6
CH5424802 ALK inhibitor,potent and ATP-competitive 1256580-46-7
FPA 124 902779-59-3
GDC-0068 (RG7440) Pan-AKT inhibitor,highly selective 1001264-89-6
GSK1838705A IGF-IR/IR/ALK inhibitor, ATP-competitive 1116235-97-2
GSK2141795 1047634-65-0
GSK2141795 hydrochloride 1047635-80-2
GSK690693 Pan-AKT inhibitor,ATP-competitive and potent 937174-76-0
Isobavachalcone Diverse biological activity compound 20784-50-3
Miltefosine PI3K/Akt inhibitor 58066-85-6
MK-2206 dihydrochloride Akt1/2/3 inhibitor 1032350-13-2
Palomid 529 PI3K/Akt/mTOR inhibitor 914913-88-5
Perifosine Akt inhibitor 157716-52-4
PHT-427 Akt and PDPK1 inhibitor 1191951-57-1
PIT 1 53501-41-0
SC 66 871361-88-5
SC 79 Akt activator 305834-79-1
TAE684 (NVP-TAE684) ALK inhibitor,potent and selective 761439-42-3
TIC10 Potent Akt/ERK inhibitor 41276-02-2
Triciribine Akt inhibitor,highly selective 35943-35-2
genes like me logo Genes that share compounds with AKT3: view

Drug Products

Transcripts for AKT3 Gene

Unigene Clusters for AKT3 Gene

V-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AKT3 Gene

No ASD Table

Relevant External Links for AKT3 Gene

GeneLoc Exon Structure for
AKT3
ECgene alternative splicing isoforms for
AKT3

Expression for AKT3 Gene

mRNA expression in normal human tissues for AKT3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AKT3 Gene

This gene is overexpressed in Fetal Brain (12.2), Peripheral blood mononuclear cells (11.3), Uterus (8.5), Ovary (7.6), and Rectum (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AKT3 Gene



Protein tissue co-expression partners for AKT3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AKT3 Gene:

AKT3

SOURCE GeneReport for Unigene cluster for AKT3 Gene:

Hs.498292

mRNA Expression by UniProt/SwissProt for AKT3 Gene:

Q9Y243-AKT3_HUMAN
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.
genes like me logo Genes that share expression patterns with AKT3: view

Primer Products

No data available for mRNA differential expression in normal tissues for AKT3 Gene

Orthologs for AKT3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AKT3 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia AKT3 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AKT3 34 35
  • 99.79 (n)
cow
(Bos Taurus)
Mammalia AKT3 34 35
  • 96.66 (n)
dog
(Canis familiaris)
Mammalia AKT3 34 35
  • 95.27 (n)
rat
(Rattus norvegicus)
Mammalia Akt3 34
  • 94.09 (n)
mouse
(Mus musculus)
Mammalia Akt3 34 16 35
  • 94.08 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AKT3 35
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves AKT3 34 35
  • 90.05 (n)
lizard
(Anolis carolinensis)
Reptilia AKT3 35
  • 100 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii AKT3 35
  • 93 (a)
OneToOne
akt3a 34
  • 80.17 (n)
fruit fly
(Drosophila melanogaster)
Insecta Akt1 36 35
  • 63 (a)
worm
(Caenorhabditis elegans)
Secernentea akt-1 36 35
  • 53 (a)
akt-2 35
  • 51 (a)
ManyToMany
F28C10.3 36
  • 35 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SCH9 35
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9149 35
  • 61 (a)
OneToMany
Species where no ortholog for AKT3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for AKT3 Gene

ENSEMBL:
Gene Tree for AKT3 (if available)
TreeFam:
Gene Tree for AKT3 (if available)

Paralogs for AKT3 Gene

Variants for AKT3 Gene

Sequence variations from dbSNP and Humsavar for AKT3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs397514605 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MPPH2) [MIM:615937], Pathogenic 243,613,681(-) TGTTA(A/G)TGGGG reference, missense
rs397514606 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MPPH2) [MIM:615937], Pathogenic 243,695,714(-) TAGGA(A/G)AATAT reference, missense, utr-variant-5-prime
rs587776935 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MPPH2) [MIM:615937], Pathogenic 243,505,296(+) CGGCC(A/G)CCTCT intron-variant, reference, missense
VAR_040358 A glioblastoma multiforme sample
rs10157692 -- 243,576,816(+) tatag(A/G)ttcaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AKT3 Gene

Variant ID Type Subtype PubMed ID
dgv160e212 CNV loss 25503493
dgv17n73 CNV deletion 24416366
dgv314n106 CNV deletion 24896259
dgv601n100 CNV gain 25217958
dgv880n54 CNV gain 21841781
dgv881n54 CNV loss 21841781
esv2182482 CNV deletion 18987734
esv2575701 CNV insertion 19546169
esv2606093 CNV deletion 19546169
esv2648270 CNV deletion 19546169
esv2674959 CNV deletion 23128226
esv2677365 CNV deletion 23128226
esv2726518 CNV deletion 23290073
esv274931 CNV loss 21479260
esv275568 CNV loss 21479260
esv28291 CNV gain 19812545
esv2846125 CNV deletion 24192839
esv3427368 CNV insertion 20981092
esv3549722 CNV deletion 23714750
esv3549766 CNV deletion 23714750
esv3549777 CNV deletion 23714750
esv3575828 CNV gain 25503493
esv3578515 CNV loss 25503493
esv3578519 CNV loss 25503493
esv3589392 CNV loss 21293372
esv3589393 CNV loss 21293372
esv3589394 CNV loss 21293372
esv5138 CNV loss 18987735
esv7595 CNV loss 19470904
esv996767 CNV loss 20482838
nsv1002245 CNV loss 25217958
nsv1010479 CNV loss 25217958
nsv1013039 CNV gain 25217958
nsv1068995 CNV deletion 25765185
nsv1132835 CNV insertion 24896259
nsv1153004 CNV insertion 26484159
nsv480457 CNV novel sequence insertion 20440878
nsv509724 CNV insertion 20534489
nsv511135 CNV loss 21212237
nsv511749 CNV loss 21212237
nsv5121 CNV deletion 18451855
nsv5132 CNV insertion 18451855
nsv522102 CNV gain 19592680
nsv549480 CNV loss 21841781
nsv549483 CNV gain 21841781
nsv549491 CNV gain 21841781
nsv821560 CNV deletion 20802225
nsv833070 CNV gain 17160897
nsv833081 CNV gain 17160897
nsv833093 CNV loss 17160897
nsv833104 CNV gain+loss 17160897
nsv997627 CNV gain 25217958

Variation tolerance for AKT3 Gene

Residual Variation Intolerance Score: 19.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.25; 5.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AKT3 Gene

Human Gene Mutation Database (HGMD)
AKT3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AKT3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AKT3 Gene

Disorders for AKT3 Gene

MalaCards: The human disease database

(35) MalaCards diseases for AKT3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
  • mpph2
mpph syndrome
  • megalencephaly-postaxial polydactyly-polymicrogyria-hydrocephalus syndrome
hemimegalencephaly
  • macrencephaly
thymoma
  • thymus neoplasms
megalencephaly
  • macroencephaly
- elite association - COSMIC cancer census association via MalaCards
Search AKT3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AKT3_HUMAN
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MPPH2) [MIM:615937]: A syndrome characterized by megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome. {ECO:0000269 PubMed:22500628, ECO:0000269 PubMed:22729223, ECO:0000269 PubMed:22729224, ECO:0000269 PubMed:23745724}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=AKT3 is a key modulator of several tumors like melanoma, glioma and ovarian cancer. Active AKT3 increases progressively during melanoma tumor progression with highest levels present in advanced-stage metastatic melanomas. Promotes melanoma tumorigenesis by decreasing apoptosis. Plays a key role in the genesis of ovarian cancers through modulation of G2/M phase transition. With AKT2, plays a pivotal role in the biology of glioblastoma.

Relevant External Links for AKT3

Genetic Association Database (GAD)
AKT3
Human Genome Epidemiology (HuGE) Navigator
AKT3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AKT3
genes like me logo Genes that share disorders with AKT3: view

No data available for Genatlas for AKT3 Gene

Publications for AKT3 Gene

  1. Identification of a human Akt3 (protein kinase B gamma) which contains the regulatory serine phosphorylation site. (PMID: 10208883) Nakatani K. … Roth R.A. (Biochem. Biophys. Res. Commun. 1999) 2 3 4 22 64
  2. Akt2 and Akt3 play a pivotal role in malignant gliomas. (PMID: 20167810) Mure H. … Nagahiro S. (Neuro-oncol. 2010) 3 4 22 64
  3. Mutational and immunohistochemical study of the PI3K/Akt pathway in papillary thyroid carcinoma in Greece. (PMID: 20186503) Sozopoulos E. … Tseleni-Balafouta S. (Endocr. Pathol. 2010) 3 22 46 64
  4. A novel AKT3 mutation in melanoma tumours and cell lines. (PMID: 18813315) Davies M.A. … Mills G.B. (Br. J. Cancer 2008) 3 4 22 64
  5. Kinetic mechanism of AKT/PKB enzyme family. (PMID: 16540465) Zhang X. … Kendall R.L. (J. Biol. Chem. 2006) 3 4 22 64

Products for AKT3 Gene

  • Addgene plasmids for AKT3

Sources for AKT3 Gene

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