Gene: PIK3C2A

Alternate names for this Gene: CPK|OCSKD|PI3-K-C2(ALPHA)|PI3-K-C2A|PI3K-C2-alpha|PI3K-C2alpha

Gene Summary: The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is not sensitive to nanomolar levels of the inhibitor wortmanin. This protein was shown to be able to be activated by insulin and may be involved in integrin-dependent signaling.

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.1

Description of this Gene: phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha

Type of Gene: protein-coding

rs16933829 in PIK3C2A gene and ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO PMID 25461247 2015 Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.

rs16933829 in PIK3C2A gene and AIDS, PROGRESSION TO PMID 25461247 2015 Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.

rs664382 in PIK3C2A gene and Alcohol consumption PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

rs4356203 in PIK3C2A gene and Bipolar Disorder PMID 24280982 2014 Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.

rs2052188 in PIK3C2A gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs16933829 in PIK3C2A gene and HIV-1 infection PMID 25461247 2015 Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.

rs16933829 in PIK3C2A gene and HIV-1, RESISTANCE TO PMID 25461247 2015 Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.

rs16933829 in PIK3C2A gene and HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO PMID 25461247 2015 Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.

rs4356203 in PIK3C2A gene and Mental disorders PMID 24280982 2014 Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.

rs4356203 in PIK3C2A gene and Psychotic Disorders PMID 24280982 2014 Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.

rs4356203 in PIK3C2A gene and Schizophrenia PMID 24280982 2014 Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.

PMID 21926974 2011 Genome-wide association study identifies five new schizophrenia loci.

rs664382 in PIK3C2A gene and Systolic Pressure PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.