PIK3CA Chromosome 3
Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
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What This Gene Does
Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016]
Gene Info
Gene Group
Phosphatidylinositol 3-kinase family
Locus Type
gene with protein product
Location
3q26.32
Ensembl
ENSG00000121879
Associated Conditions (107)
Carcinoma of colon
Seborrheic keratosis
Breast adenocarcinoma
OVARIAN CANCER
EPITHELIAL
SOMATIC
Non-small cell lung carcinoma
Megalencephaly-capillary malformation-polymicrogyria syndrome
Sarcoma
Ovarian neoplasm
Abnormal cardiovascular system morphology
CLOVES syndrome
Cerebrofacial Vascular Metameric Syndrome (CVMS)
PIK3CA related overgrowth syndrome
Segmental undergrowth associated with lymphatic malformation
Gallbladder cancer
Eccrine angiomatous hamartoma
Gastric cancer
HEMIFACIAL MYOHYPERPLASIA
Angioosteohypertrophic syndrome
+87 more conditions
Key Variants
RS104886003
drug response
Carcinoma of colon, Seborrheic keratosis, Breast adenocarcinoma
Drug Response
RS1057519930
Conflicting classifications of pathogenicity
Cowden syndrome, CLOVES syndrome, PIK3CA related overgrowth syndrome
Health Risk
RS1057519933
Conflicting classifications of pathogenicity
Cowden syndrome 5, PIK3CA related overgrowth syndrome, Diffuse midline glioma
Health Risk
RS1170069201
Conflicting classifications of pathogenicity
Cowden syndrome, Cowden syndrome 5, Cowden syndrome
Health Risk
RS1253171657
Conflicting classifications of pathogenicity
Cowden syndrome, Cowden syndrome
Health Risk
RS1553820399
Conflicting classifications of pathogenicity
Cowden syndrome, PIK3CA related overgrowth syndrome, Cowden syndrome
Health Risk
RS1576932506
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1724918747
Conflicting classifications of pathogenicity
Cowden syndrome, Cowden syndrome
Health Risk
RS17849078
Conflicting classifications of pathogenicity
Cowden syndrome, Inborn genetic diseases, Cowden syndrome
Health Risk
RS190372148
Conflicting classifications of pathogenicity
Cowden syndrome, Cowden syndrome
Health Risk
RS200018596
Conflicting classifications of pathogenicity
CLAPO syndrome, MACRODACTYLY, SOMATIC
Health Risk
RS200627037
Conflicting classifications of pathogenicity
Facial asymmetry, Overgrowth, Hemimegalencephaly
Health Risk
All Variants (104)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057519942 | Health Risk | Pathogenic | Cowden syndrome, Cowden syndrome 5, Megalencephaly |
| RS1064793663 | Health Risk | Pathogenic | Global developmental delay, Hypospadias, Macrocephaly |
| RS1064793732 | Health Risk | Pathogenic | Cowden syndrome, Ovarian neoplasm, Megalencephaly-capillary malformation-polymicrogyria syndrome |
| RS1064793838 | Health Risk | Pathogenic | Cowden syndrome, Cowden syndrome |
| RS121913272 | Health Risk | Pathogenic | CLOVES syndrome, Ovarian neoplasm, PIK3CA related overgrowth syndrome |
| RS121913273 | Health Risk | Pathogenic | CLOVES syndrome, Ovarian neoplasm, Non-small cell lung carcinoma |
| RS121913274 | Health Risk | Pathogenic | Epidermal nevus, Carcinoma of colon, PIK3CA related overgrowth syndrome |
| RS121913275 | Health Risk | Pathogenic | PIK3CA related overgrowth syndrome, Megalencephaly-capillary malformation-polymicrogyria syndrome, Cowden syndrome |
| RS121913279 | Health Risk | Pathogenic | Carcinoma of colon, Hepatocellular carcinoma, Non-small cell lung carcinoma |
| RS121913281 | Health Risk | Pathogenic | Megalencephaly-capillary malformation-polymicrogyria syndrome, Non-small cell lung carcinoma, Cowden syndrome |
| RS121913283 | Health Risk | Pathogenic | Non-small cell lung carcinoma, PIK3CA related overgrowth syndrome, Cowden syndrome |
| RS121913284 | Health Risk | Pathogenic | Abnormal cardiovascular system morphology, 13 conditions, PIK3CA related overgrowth syndrome |
| RS121913286 | Health Risk | Pathogenic | Breast adenocarcinoma, PIK3CA related overgrowth syndrome, OVARIAN CANCER |
| RS121913287 | Health Risk | Pathogenic | Ovarian neoplasm, Cowden syndrome, PIK3CA related overgrowth syndrome |
| RS121913288 | Health Risk | Pathogenic | Abnormal cardiovascular system morphology, Cowden syndrome, Neoplasm |
| RS1242945375 | Health Risk | Pathogenic | Megalencephaly-capillary malformation-polymicrogyria syndrome, PIK3CA related overgrowth syndrome, Astrocytoma IDH-mutant |
| RS1432181034 | Health Risk | Pathogenic | PIK3CA related overgrowth syndrome, PIK3CA related overgrowth syndrome |
| RS1553821144 | Health Risk | Pathogenic | Inborn genetic diseases, Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
| RS1553825266 | Health Risk | Pathogenic | — |
| RS1560137208 | Health Risk | Pathogenic | CLAPO syndrome, CLAPO syndrome |
| RS1724341846 | Health Risk | Pathogenic | PIK3CA related overgrowth syndrome, PIK3CA related overgrowth syndrome |
| RS1724405916 | Health Risk | Pathogenic | Colorectal cancer, Colorectal cancer |
| RS1724507777 | Health Risk | Pathogenic | CLOVES syndrome, Capillary malformation, Megalencephaly-capillary malformation-polymicrogyria syndrome |
| RS2108400575 | Health Risk | Pathogenic | — |
| RS2108408372 | Health Risk | Pathogenic | — |
| RS2108410808 | Health Risk | Pathogenic | — |
| RS2108429797 | Health Risk | Pathogenic | Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS2108430158 | Health Risk | Pathogenic | Lymphatic malformation, Lymphatic malformation |
| RS2473524076 | Health Risk | Pathogenic | PIK3CA related overgrowth syndrome, PIK3CA related overgrowth syndrome |
| RS397514565 | Health Risk | Pathogenic | Megalencephaly-capillary malformation-polymicrogyria syndrome, PIK3CA related overgrowth syndrome, Cowden syndrome |
| RS397517199 | Health Risk | Pathogenic | CLOVES syndrome, PIK3CA related overgrowth syndrome, PIK3CA-related disorder |
| RS587776932 | Health Risk | Pathogenic | Megalencephaly-capillary malformation-polymicrogyria syndrome, Abnormal cardiovascular system morphology, Cowden syndrome 5 |
| RS587776933 | Health Risk | Pathogenic | Megalencephaly-capillary malformation-polymicrogyria syndrome, Cowden syndrome, PIK3CA-related disorder |
| RS587777790 | Health Risk | Pathogenic | Cowden syndrome 5, Angioosteohypertrophic syndrome, Keratoacanthoma |
| RS587777791 | Health Risk | Pathogenic | Cowden syndrome 5, Cowden syndrome 5 |
| RS587777792 | Health Risk | Pathogenic | Cowden syndrome 5, Cowden syndrome 5 |
| RS587777793 | Health Risk | Pathogenic | Cowden syndrome 5, Cowden syndrome 5 |
| RS587777796 | Health Risk | Pathogenic | Cowden syndrome 5, Cowden syndrome 5 |
| RS863225460 | Health Risk | Pathogenic | Megalencephaly-capillary malformation-polymicrogyria syndrome, Megalencephaly-capillary malformation-polymicrogyria syndrome |
| RS867262025 | Health Risk | Pathogenic | Inborn genetic diseases, Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, Cowden syndrome |
| RS1064793349 | Health Risk | Pathogenic/Likely pathogenic | Megalencephaly-capillary malformation-polymicrogyria syndrome, PIK3CA related overgrowth syndrome, Megalencephaly-capillary malformation-polymicrogyria syndrome |
| RS1278986760 | Health Risk | Pathogenic/Likely pathogenic | Megalencephaly-capillary malformation-polymicrogyria syndrome, PIK3CA related overgrowth syndrome, Megalencephaly-capillary malformation-polymicrogyria syndrome |
| RS1553826184 | Health Risk | Pathogenic/Likely pathogenic | See cases, See cases |
| RS1576935161 | Health Risk | Pathogenic/Likely pathogenic | Megalencephaly-capillary malformation-polymicrogyria syndrome, PIK3CA related overgrowth syndrome, Megalencephaly-capillary malformation-polymicrogyria syndrome |
| RS1724342112 | Health Risk | Pathogenic/Likely pathogenic | PIK3CA-related disorder, Neoplasm, PIK3CA related overgrowth syndrome |
| RS1724674149 | Health Risk | Pathogenic/Likely pathogenic | Megalencephaly-capillary malformation-polymicrogyria syndrome, Neoplasm, Megalencephaly-capillary malformation-polymicrogyria syndrome |
| RS2108424902 | Health Risk | Pathogenic/Likely pathogenic | See cases, Angioosteohypertrophic syndrome, Segmental undergrowth associated with mainly venous malformation with capillary component |
| RS2108425281 | Health Risk | Pathogenic/Likely pathogenic | Cowden syndrome, Neoplasm, Cowden syndrome |
| RS2108429272 | Health Risk | Pathogenic/Likely pathogenic | PIK3CA related overgrowth syndrome, PIK3CA related overgrowth syndrome |
| RS2108429509 | Health Risk | Pathogenic/Likely pathogenic | PIK3CA related overgrowth syndrome, Cowden syndrome, PIK3CA related overgrowth syndrome |