PIK3R2 Chromosome 19
Phosphoinositide-3-kinase regulatory subunit 2
Upload your DNA to see your personal genotypes for variants in PIK3R2.
What This Gene Does
Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protein encoded by this gene is a regulatory component of PI3K. Three transcript variants, one protein coding and the other two non-protein coding, have been found for this gene. [provided by RefSeq, Apr 2019]
Gene Info
Gene Group
SH2 domain containing
Locus Type
gene with protein product
Location
19p13.11
Ensembl
ENSG00000105647
Associated Conditions (10)
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Inborn genetic diseases
Overgrowth syndrome and/or cerebral malformations
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIK3R2-related disorder
Intellectual disability
Multiple myeloma
Megalencephaly-capillary malformation-polymicrogyria syndrome
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Seizure
Key Variants
RS1041937206
Conflicting classifications of pathogenicity
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Inborn genetic diseases, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Health Risk
RS111848145
Conflicting classifications of pathogenicity
Inborn genetic diseases, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Inborn genetic diseases
Health Risk
RS1131691683
Conflicting classifications of pathogenicity
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Overgrowth syndrome and/or cerebral malformations, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Health Risk
RS1239460949
Conflicting classifications of pathogenicity
Inborn genetic diseases, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Inborn genetic diseases
Health Risk
RS200178501
Conflicting classifications of pathogenicity
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, Inborn genetic diseases, PIK3R2-related disorder
Health Risk
RS201531496
Conflicting classifications of pathogenicity
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
Health Risk
RS2513572308
Conflicting classifications of pathogenicity
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Health Risk
RS371208019
Conflicting classifications of pathogenicity
Inborn genetic diseases, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Inborn genetic diseases
Health Risk
RS374448993
Conflicting classifications of pathogenicity
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Health Risk
RS376215289
Conflicting classifications of pathogenicity
Inborn genetic diseases, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Inborn genetic diseases
Health Risk
RS752430880
Conflicting classifications of pathogenicity
Inborn genetic diseases, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Inborn genetic diseases
Health Risk
RS754613799
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (33)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1041937206 | Health Risk | Conflicting classifications of pathogenicity | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Inborn genetic diseases, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome |
| RS111848145 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Inborn genetic diseases |
| RS1131691683 | Health Risk | Conflicting classifications of pathogenicity | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Overgrowth syndrome and/or cerebral malformations, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome |
| RS1239460949 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Inborn genetic diseases |
| RS200178501 | Health Risk | Conflicting classifications of pathogenicity | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, Inborn genetic diseases, PIK3R2-related disorder |
| RS201531496 | Health Risk | Conflicting classifications of pathogenicity | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
| RS2513572308 | Health Risk | Conflicting classifications of pathogenicity | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome |
| RS371208019 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Inborn genetic diseases |
| RS374448993 | Health Risk | Conflicting classifications of pathogenicity | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome |
| RS376215289 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Inborn genetic diseases |
| RS752430880 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Inborn genetic diseases |
| RS754613799 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS767863322 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Inborn genetic diseases |
| RS768075445 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Intellectual disability |
| RS768641921 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Inborn genetic diseases |
| RS80233027 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Inborn genetic diseases |
| RS897040629 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Inborn genetic diseases |
| RS920139065 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Inborn genetic diseases |
| RS941281903 | Health Risk | Conflicting classifications of pathogenicity | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome |
| RS1057519801 | Health Risk | Likely pathogenic | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
| RS1212577459 | Health Risk | Likely pathogenic | Multiple myeloma, Multiple myeloma |
| RS1418268495 | Health Risk | Likely pathogenic | Multiple myeloma, Multiple myeloma |
| RS1555815238 | Health Risk | Likely pathogenic | — |
| RS1568636630 | Health Risk | Likely pathogenic | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
| RS1568637223 | Health Risk | Likely pathogenic | — |
| RS2043757489 | Health Risk | Likely pathogenic | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
| RS1269675188 | Health Risk | Pathogenic | — |
| RS2043767578 | Health Risk | Pathogenic | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
| RS587776934 | Health Risk | Pathogenic | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, Inborn genetic diseases, Megalencephaly-capillary malformation-polymicrogyria syndrome |
| RS587777624 | Health Risk | Pathogenic | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
| RS886041591 | Health Risk | Pathogenic | Seizure, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, PIK3R2-related disorder |
| RS886041602 | Health Risk | Pathogenic | — |
| RS372272045 | Health Risk | Pathogenic/Likely pathogenic | Seizure, PIK3R2-related disorder, Seizure |