PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
Gene ID: 5294, updated on 3-Sep-2024Gene type: protein coding
Also known as: PI3K; PIK3; IMD97; PI3CG; PI3Kgamma; p110gamma; p120-PI3K
- See all available tests in GTR for this gene
- Go to complete Gene record for PIK3CG
- Go to Variation Viewer for PIK3CG variants
Summary
Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I catalytic subunit of PI3K. Like other class I catalytic subunits (p110-alpha p110-beta, and p110-delta), the encoded protein binds a p85 regulatory subunit to form PI3K. This gene is located in a commonly deleted segment of chromosome 7 previously identified in myeloid leukemias. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. GeneReviews: Not available | |
| A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. GeneReviews: Not available | |
| A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans. GeneReviews: Not available | |
| Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. GeneReviews: Not available | |
| Immunodeficiency 97 with autoinflammation | not available |
| Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque. GeneReviews: Not available | |
| New gene functions in megakaryopoiesis and platelet formation. GeneReviews: Not available |
Genomic context
- Location:
- 7q22.3
- Sequence:
- Chromosome: 7; NC_000007.14 (106865282..106908980)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PIK3CG variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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