PIK3C2G
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma
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. This gene may play a role in several diseases, including type II diabetes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Known Variants77 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12305290 | 12:18,399,464 | G/A | upstream gene variant | — |
| rs774197612 | 12:18,435,025 | T/C | — | uncertain significance |
| rs201177662 | 12:18,435,037 | G/T | — | uncertain significance |
| rs201018498 | 12:18,435,220 | C/T | — | uncertain significance |
| rs2498276879 | 12:18,435,248 | T/C | — | uncertain significance |
| rs750826408 | 12:18,435,278 | A/G | — | uncertain significance |
| rs746898871 | 12:18,435,328 | C/A | — | uncertain significance |
| rs11044004 | 12:18,435,452 | C/T | — | benign |
| rs779733977 | 12:18,435,454 | T/C | — | uncertain significance |
| rs1388591295 | 12:18,435,470 | A/G | — | uncertain significance |
| rs748292087 | 12:18,435,472 | A/G | — | uncertain significance |
| rs762601548 | 12:18,435,499 | A/C | — | uncertain significance |
| rs1949470660 | 12:18,439,865 | T/C | — | likely pathogenic |
| rs189555401 | 12:18,443,065 | C/T | intron variant | — |
| rs367579213 | 12:18,443,895 | A/G | — | uncertain significance |
| rs200790997 | 12:18,446,918 | A/C | — | uncertain significance |
| rs2498432263 | 12:18,446,946 | A/G | — | uncertain significance |
| rs762493710 | 12:18,466,932 | A/C | — | uncertain significance |
| rs373231729 | 12:18,466,938 | A/T | — | uncertain significance |
| rs1444567095 | 12:18,473,935 | C/A | — | uncertain significance |
| rs756781973 | 12:18,491,366 | G/A | — | uncertain significance |
| rs774136829 | 12:18,496,261 | A/G | — | uncertain significance |
| rs1324139872 | 12:18,499,593 | C/T | — | uncertain significance |
| rs752464101 | 12:18,499,650 | A/G | — | uncertain significance |
| rs11044045 | 12:18,508,252 | C/T | downstream gene variant | — |
| rs537382833 | 12:18,534,713 | G/C | — | uncertain significance |
| rs765563747 | 12:18,534,763 | G/C | — | uncertain significance |
| rs761050780 | 12:18,544,060 | A/G | — | uncertain significance |
| rs375035027 | 12:18,544,099 | C/G | — | uncertain significance |
| rs111580027 | 12:18,544,179 | C/A | — | uncertain significance |
| rs200263951 | 12:18,552,615 | T/C | — | uncertain significance |
| rs746411737 | 12:18,552,697 | A/G | — | uncertain significance |
| rs2499408161 | 12:18,552,718 | A/C | — | uncertain significance |
| rs374637655 | 12:18,552,730 | G/A | — | uncertain significance |
| rs758616836 | 12:18,552,759 | G/A | — | uncertain significance |
| rs369497823 | 12:18,552,774 | A/T | — | uncertain significance |
| rs2499597927 | 12:18,576,888 | T/G | — | uncertain significance |
| rs61754414 | 12:18,576,899 | C/A | — | likely benign |
| rs754014756 | 12:18,576,927 | C/T | — | uncertain significance |
| rs2499598727 | 12:18,576,958 | C/T | — | uncertain significance |
| rs1011605430 | 12:18,641,394 | A/T | — | uncertain significance |
| rs1392293386 | 12:18,641,412 | A/G | — | uncertain significance |
| rs746849167 | 12:18,641,507 | A/C | — | uncertain significance |
| rs387907449 | 12:18,644,413 | T/G | — | uncertain significance |
| rs1288890184 | 12:18,644,459 | C/G | — | uncertain significance |
| rs1940982855 | 12:18,648,999 | T/C | — | uncertain significance |
| rs387907452 | 12:18,649,011 | A/T | — | uncertain significance |
| rs750864969 | 12:18,650,569 | G/A | — | uncertain significance |
| rs2500020794 | 12:18,650,574 | G/A | — | uncertain significance |
| rs387907453 | 12:18,650,584 | T/C | — | uncertain significance |
| rs372973983 | 12:18,650,634 | G/T | — | uncertain significance |
| rs771793429 | 12:18,650,635 | A/G | — | uncertain significance |
| rs771440899 | 12:18,658,251 | G/T | — | uncertain significance |
| rs377020826 | 12:18,658,278 | T/A | — | uncertain significance |
| rs1592435519 | 12:18,658,348 | C/G | — | uncertain significance |
| rs372642230 | 12:18,691,100 | C/T | — | uncertain significance |
| rs1303514822 | 12:18,691,219 | C/A | — | uncertain significance |
| rs375555307 | 12:18,691,225 | G/A | — | uncertain significance |
| rs907142477 | 12:18,691,247 | G/T | — | uncertain significance |
| rs1326059090 | 12:18,715,749 | C/G | — | uncertain significance |
| rs2498001251 | 12:18,715,765 | T/C | — | uncertain significance |
| rs187352063 | 12:18,715,827 | G/A | — | likely benign |
| rs387907450 | 12:18,716,346 | A/G | — | uncertain significance |
| rs387907451 | 12:18,716,352 | C/A | — | uncertain significance |
| rs1160725015 | 12:18,716,395 | C/A | — | uncertain significance |
| rs146312199 | 12:18,719,887 | C/T | — | likely benign |
| rs374207613 | 12:18,719,891 | A/G | — | uncertain significance |
| rs200838936 | 12:18,719,926 | A/G | — | uncertain significance |
| rs71539452 | 12:18,719,932 | T/C | — | uncertain significance |
| rs1947250041 | 12:18,747,435 | G/C | — | uncertain significance |
| rs1243792370 | 12:18,747,461 | G/A | — | uncertain significance |
| rs1261266228 | 12:18,793,363 | C/G | — | uncertain significance |
| rs371319345 | 12:18,793,386 | C/T | — | likely benign |
| rs117378660 | 12:18,800,802 | G/A | — | likely benign |
| rs2498767125 | 12:18,800,813 | G/A | — | uncertain significance |
| rs12816860 | 12:18,800,949 | A/G | — | uncertain significance |
| rs757326350 | 12:18,841,149 | T/A | missense variant | pathogenic |
Gene information from NCBI Gene. Variant classifications from ClinVar.