Version: 8.0.0Date: Tue Jan 28 2025
Gene
Pik3ca
- Species
- Mus musculus
- Symbol
- Pik3ca
- Name
- phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
- Synonyms
- 6330412C24Rik
- caPI3K
- Biotype
- protein coding gene
- Automated Description
- Enables 1-phosphatidylinositol-3-kinase activity; insulin receptor substrate binding activity; and protein kinase activator activity. Involved in several processes, including cell surface receptor protein tyrosine kinase signaling pathway; cellular response to hydrostatic pressure; and phosphatidylinositol 3-kinase/protein kinase B signal transduction. Acts upstream of with a negative effect on autosome genomic imprinting. Acts upstream of or within several processes, including cellular response to glucose stimulus; negative regulation of apoptotic process; and regulation of macromolecule metabolic process. Located in intercalated disc and lamellipodium. Part of phosphatidylinositol 3-kinase complex. Is expressed in several structures, including early embryo; eye; and nervous system. Used to study CLOVES syndrome and breast cancer. Human ortholog(s) of this gene implicated in several diseases, including CLOVES syndrome; Cowden syndrome 5; breast cancer (multiple); cutaneous Paget's disease; and gastrointestinal system cancer (multiple). Orthologous to human PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha).
- MGI Description
- PHENOTYPE: Homozygous null or knock-in mutations of this gene lead to embryonic death associated with growth retardation, vascular defects and hemorrhage. Surviving mice homozygous for a knock-in allele show impaired lymphangiogenesis, ascites, reduced weight, and resistance to Ras-driven skin tumorigenesis. [provided by MGI curators]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR10048
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr3:32451203...32520256 + (69.05 kb)
- Assembly version
- GRCm39
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.