AKT2
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
AKT2 (HGNC:392) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
AKT serine/threonine kinase 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
PKBβ
%HI
4.88(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.4(Read more about gnomAD LOEUF score)
Cytoband
19q13.2
Genomic Coordinates
GRCh37/hg19: chr19:40736224-40791252 NCBI Ensembl UCSC
GRCh38/hg38: chr19:40230317-40285345 NCBI Ensembl UCSC
MANE Select Transcript
NM_001626.6 ENST00000392038.7 (Read more about MANE Select)
Function
AKT2 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. AKT is responsible of the regulation of glucose uptake ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-37028
ClinGen Curation ID:
CCID:006644
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
05/07/2015

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Activating variants in AKT2 have been reported in individuals with hypoinsulinemic hypoglycemia and hemihypertrophy. Additionally, there has been a single report of a family with severe insulin resistance and diabetes mellitus and a missense variant in AKT2 (PMID:15166380). The authors posit that this missense variant results in loss of function, though this was unclear based on the evidence presented. More evidence is needed to determine whether loss of function variants in AKT2 result in a clinical phenotype.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000019.9) (NC_000019.10)