Gene
AKT2
AKT serine/threonine kinase 2
- HGNC 392↗(opens in a new tab)
- Ensembl gene ENSG00000105221↗(opens in a new tab)
- NCBI Gene 208↗(opens in a new tab)
Summary
- Cytogenetic location
- 19q13.2
- Coordinates
- Chromosome 19: 40,230,317–40,285,345 (GRCh38)
- Exons
- 14 exons across 55 kb
- Protein
- 481 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- PKBβ
- MANE Select transcript
- ENST00000392038.7NM_001626.6
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Diabetes Mellitus
A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Teplizumab (Tzield) for stage 2 presymptomatic T1D (FDA approved 2022); insulin replacement at clinical T1D onset; TrialNet autoantibody screening for high-risk relatives; closed-loop insulin delivery systems
Lipodystrophy
- Familial Partial Lipodystrophy
Includes the LMNA (Dunnigan), PPARG, PLIN1, LIPE, AKT2, CAV1 and PLAAT3 forms, which cause loss of fat from the limbs and buttocks with insulin resistance, diabetes, high triglycerides and fatty liver.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Knowing allows early screening and treatment of diabetes, triglycerides and liver disease, and in selected cases metreleptin.
Severe Inherited Insulin Resistance
- Hypoinsulinaemic hypoglycaemia with body hemihypertrophyAutosomal dominant
Low blood sugar with low insulin and uneven body growth, caused by activating AKT2 variants.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How AKT2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 5.3 kb of the gene's 55 kb; 1,446 of those bases code for the protein.
How a genome test reads AKT2
1
position in AKT2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 55 kb of AKT2, introns included, not only the 5.3 kb of exons.
Genes linked to the same conditions
- ABCC8ATP binding cassette subfamily C member 8Shares 1 condition
- APPL1adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1Shares 1 condition
- BSCL2BSCL2 lipid droplet biogenesis associated, seipinShares 1 condition
- CAV1caveolin 1Shares 1 condition
- CELcarboxyl ester lipaseShares 1 condition
- EIF2B1eukaryotic translation initiation factor 2B subunit alphaShares 1 condition
- EIF2S3eukaryotic translation initiation factor 2 subunit gammaShares 1 condition
- GATA4GATA binding protein 4Shares 1 condition
- GATA6GATA binding protein 6Shares 1 condition
- GCKglucokinaseShares 1 condition
- GLIS3GLIS family zinc finger 3Shares 1 condition
- HNF1AHNF1 homeobox AShares 1 condition
Traits linked to AKT2
The Human Phenotype Ontology lists these as features of the rare conditions AKT2 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). AKT2 gene: AKT serine/threonine kinase 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/akt2
Dante Labs. AKT2 gene: AKT serine/threonine kinase 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/akt2
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