AKT3

AKT serine/threonine kinase 3

2 disorders 2 causative 1q43-q44 gene with protein product

HGNC:393 Monarch NCBI Gene 10000 ENSG00000117020 UniProt Q9Y243 OMIM 611223

Aliases: PKBG, RAC-gamma, PRKBG.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Focal Cortical Dysplasia Type II	causative somatic
Hemimegalencephaly	causative somatic	mechanism: Postzygotic Somatic Variant in the PI3K-AKT3-mTOR Pathway

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
microcephaly MONDO:0001149	AD	Limited 2021-10-26	no dismech entry
overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes MONDO:0100283	AD	Definitive 2021-07-29	no dismech entry

Mechanism modules · computed from kb/

pi3k_akt_mtor_cortical_overgrowth named in the module itself
reelin_terminal_translocation_lamination_failure named in the module itself

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.