AKT3 Chromosome 1
AKT serine/threonine kinase 3
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What This Gene Does
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]
Gene Info
Gene Group
"Pleckstrin homology domain containing|AKT kinase family"
Locus Type
gene with protein product
Location
1q43-q44
Ensembl
ENSG00000117020
Associated Conditions (13)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Inborn genetic diseases
Megalencephaly-capillary malformation-polymicrogyria syndrome
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Cns neuroblastoma with FOXR2 activation
Medulloblastoma
Polymicrogyria
Capillary hemangioma
Global developmental delay
Macrocephaly
See cases
Neoplasm
AKT3-related disorder
Key Variants
RS1351256745
Conflicting classifications of pathogenicity
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Inborn genetic diseases, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Health Risk
RS1574509510
Conflicting classifications of pathogenicity
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Health Risk
RS1669592664
Conflicting classifications of pathogenicity
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Health Risk
RS1674673024
Conflicting classifications of pathogenicity
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Health Risk
RS370193515
Conflicting classifications of pathogenicity
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Health Risk
RS530590989
Conflicting classifications of pathogenicity
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Health Risk
RS750279631
Conflicting classifications of pathogenicity
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Inborn genetic diseases, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Health Risk
RS771494754
Conflicting classifications of pathogenicity
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Inborn genetic diseases, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Health Risk
RS1064795602
Likely pathogenic
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Health Risk
RS1085307712
Likely pathogenic
Health Risk
RS2147921662
Likely pathogenic
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Health Risk
RS886041100
Likely pathogenic
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1351256745 | Health Risk | Conflicting classifications of pathogenicity | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Inborn genetic diseases, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
| RS1574509510 | Health Risk | Conflicting classifications of pathogenicity | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
| RS1669592664 | Health Risk | Conflicting classifications of pathogenicity | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
| RS1674673024 | Health Risk | Conflicting classifications of pathogenicity | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
| RS370193515 | Health Risk | Conflicting classifications of pathogenicity | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
| RS530590989 | Health Risk | Conflicting classifications of pathogenicity | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
| RS750279631 | Health Risk | Conflicting classifications of pathogenicity | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Inborn genetic diseases, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
| RS771494754 | Health Risk | Conflicting classifications of pathogenicity | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Inborn genetic diseases, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
| RS1064795602 | Health Risk | Likely pathogenic | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
| RS1085307712 | Health Risk | Likely pathogenic | — |
| RS2147921662 | Health Risk | Likely pathogenic | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
| RS886041100 | Health Risk | Likely pathogenic | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
| RS1673171921 | Health Risk | Pathogenic | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
| RS2147812145 | Health Risk | Pathogenic | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
| RS2147921624 | Health Risk | Pathogenic | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
| RS397514605 | Health Risk | Pathogenic | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-capillary malformation-polymicrogyria syndrome, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
| RS397514606 | Health Risk | Pathogenic | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, Cns neuroblastoma with FOXR2 activation |
| RS587776935 | Health Risk | Pathogenic/Likely pathogenic | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Polymicrogyria, Capillary hemangioma |