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 |
|---|---|---|---|
| RS104886003 | Drug Response | drug response | Carcinoma of colon, Seborrheic keratosis, Breast adenocarcinoma |
| RS1057519930 | Health Risk | Conflicting classifications of pathogenicity | Cowden syndrome, CLOVES syndrome, PIK3CA related overgrowth syndrome |
| RS1057519933 | Health Risk | Conflicting classifications of pathogenicity | Cowden syndrome 5, PIK3CA related overgrowth syndrome, Diffuse midline glioma |
| RS1170069201 | Health Risk | Conflicting classifications of pathogenicity | Cowden syndrome, Cowden syndrome 5, Cowden syndrome |
| RS1253171657 | Health Risk | Conflicting classifications of pathogenicity | Cowden syndrome, Cowden syndrome |
| RS1553820399 | Health Risk | Conflicting classifications of pathogenicity | Cowden syndrome, PIK3CA related overgrowth syndrome, Cowden syndrome |
| RS1576932506 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1724918747 | Health Risk | Conflicting classifications of pathogenicity | Cowden syndrome, Cowden syndrome |
| RS17849078 | Health Risk | Conflicting classifications of pathogenicity | Cowden syndrome, Inborn genetic diseases, Cowden syndrome |
| RS190372148 | Health Risk | Conflicting classifications of pathogenicity | Cowden syndrome, Cowden syndrome |
| RS200018596 | Health Risk | Conflicting classifications of pathogenicity | CLAPO syndrome, MACRODACTYLY, SOMATIC |
| RS200627037 | Health Risk | Conflicting classifications of pathogenicity | Facial asymmetry, Overgrowth, Hemimegalencephaly |
| RS201238717 | Health Risk | Conflicting classifications of pathogenicity | Cowden syndrome, Cowden syndrome |
| RS201269904 | Health Risk | Conflicting classifications of pathogenicity | Cowden syndrome, Inborn genetic diseases, Cowden syndrome |
| RS201884756 | Health Risk | Conflicting classifications of pathogenicity | Cowden syndrome, Cowden syndrome 5, Cowden syndrome |
| RS587777794 | Health Risk | Conflicting classifications of pathogenicity | Cowden syndrome 5, Cowden syndrome 5 |
| RS71310379 | Health Risk | Conflicting classifications of pathogenicity | Cowden syndrome, Cowden syndrome |
| RS753879573 | Health Risk | Conflicting classifications of pathogenicity | Cowden syndrome, Cowden syndrome |
| RS760056670 | Health Risk | Conflicting classifications of pathogenicity | Cowden syndrome, Cowden syndrome |
| RS765030404 | Health Risk | Conflicting classifications of pathogenicity | Cowden syndrome, Inborn genetic diseases, Cowden syndrome |
| RS778573303 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Cowden syndrome, Inborn genetic diseases |
| RS780492649 | Health Risk | Conflicting classifications of pathogenicity | Cowden syndrome, Inborn genetic diseases, PIK3CA-related disorder |
| RS1057518041 | Health Risk | Likely pathogenic | — |
| RS1057519927 | Health Risk | Likely pathogenic | Lip and oral cavity carcinoma, Inborn genetic diseases, Lip and oral cavity carcinoma |
| RS1057519936 | Health Risk | Likely pathogenic | Megalencephaly-capillary malformation-polymicrogyria syndrome, Megalencephaly-capillary malformation-polymicrogyria syndrome |
| RS1057519941 | Health Risk | Likely pathogenic | Ovarian neoplasm, Neoplasm, Diffuse midline glioma |
| RS1064795304 | Health Risk | Likely pathogenic | — |
| RS121913277 | Health Risk | Likely pathogenic | Megalencephaly-capillary malformation-polymicrogyria syndrome, Cowden syndrome, Diffuse pediatric-type high-grade glioma |
| RS121913285 | Health Risk | Likely pathogenic | Megalencephaly-capillary malformation-polymicrogyria syndrome, Neoplasm, Megalencephaly-capillary malformation-polymicrogyria syndrome |
| RS1553820381 | Health Risk | Likely pathogenic | — |
| RS1553826166 | Health Risk | Likely pathogenic | Endometrial carcinoma, PIK3CA-related disorder, Endometrial carcinoma |
| RS1560137609 | Health Risk | Likely pathogenic | Familial cancer of breast, PIK3CA related overgrowth syndrome, Familial cancer of breast |
| RS1576947658 | Health Risk | Likely pathogenic | Cowden syndrome 1, Cowden syndrome 1 |
| RS1724343994 | Health Risk | Likely pathogenic | PIK3CA related overgrowth syndrome, Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, CLOVES syndrome |
| RS1724363237 | Health Risk | Likely pathogenic | Squamous cell lung carcinoma, Squamous cell lung carcinoma |
| RS1724954436 | Health Risk | Likely pathogenic | Glycogen storage disease, type II, Glycogen storage disease |
| RS2108385065 | Health Risk | Likely pathogenic | — |
| RS2108390250 | Health Risk | Likely pathogenic | CLOVES syndrome, CLOVES syndrome |
| RS2108413895 | Health Risk | Likely pathogenic | Megalencephaly-capillary malformation-polymicrogyria syndrome, PIK3CA-related disorder, Megalencephaly-capillary malformation-polymicrogyria syndrome |
| RS2108424082 | Health Risk | Likely pathogenic | PIK3CA related overgrowth syndrome, Rosette-forming glioneuronal tumor, PIK3CA related overgrowth syndrome |
| RS2473511270 | Health Risk | Likely pathogenic | PIK3CA related overgrowth syndrome, PIK3CA related overgrowth syndrome |
| RS2473557457 | Health Risk | Likely pathogenic | Arteriovenous malformation, Arteriovenous malformation |
| RS2473887956 | Health Risk | Likely pathogenic | Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation 1 |
| RS397517200 | Health Risk | Likely pathogenic | Non-small cell lung carcinoma, Non-small cell lung carcinoma |
| RS397517201 | Health Risk | Likely pathogenic | Ovarian neoplasm, Abnormal cardiovascular system morphology, Neoplasm |
| RS587776802 | Health Risk | Likely pathogenic | Hepatocellular carcinoma, Gastric cancer, PIK3CA related overgrowth syndrome |
| RS772110575 | Health Risk | Likely pathogenic | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, Neoplasm, 15 conditions |
| RS1057519925 | Health Risk | Pathogenic | Ovarian neoplasm, Megalencephaly-capillary malformation-polymicrogyria syndrome, Abnormal cardiovascular system morphology |
| RS1057519929 | Health Risk | Pathogenic | Abnormal cardiovascular system morphology, CLOVES syndrome, Megalencephaly-capillary malformation-polymicrogyria syndrome |
| RS1057519938 | Health Risk | Pathogenic | Noonan syndrome 8, Megalencephaly-capillary malformation-polymicrogyria syndrome, Noonan syndrome 8 |