THEM4
thioesterase superfamily member 4
Summary
Protein kinase B (PKB) is a major downstream target of receptor tyrosine kinases that signal via phosphatidylinositol 3-kinase. Upon cell stimulation, PKB is translocated to the plasma membrane, where it is phosphorylated in the C-terminal regulatory domain. The protein encoded by this gene negatively regulates PKB activity by inhibiting phosphorylation. Transcription of this gene is commonly downregulated in glioblastomas. [provided by RefSeq, Jul 2008]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2338201 | 1:151,845,650 | G/A | — | — |
| rs34876655 | 1:151,846,839 | A/C | — | — |
| rs146012344 | 1:151,849,481 | C/T | — | likely benign |
| rs199652573 | 1:151,849,551 | A/G | — | uncertain significance |
| rs192107051 | 1:151,849,555 | T/C | — | uncertain significance |
| rs770353180 | 1:151,849,597 | T/C | — | uncertain significance |
| rs201025062 | 1:151,849,599 | G/A | — | uncertain significance |
| rs6685187 | 1:151,858,888 | A/G | intron variant | — |
| rs6698740 | 1:151,859,050 | G/A | intron variant | — |
| rs1335403752 | 1:151,860,817 | A/G | — | likely benign |
| rs765404193 | 1:151,861,766 | C/T | — | uncertain significance |
| rs73009658 | 1:151,861,842 | C/G | — | benign |
| rs1060870 | 1:151,862,661 | G/C | — | — |
| rs114800758 | 1:151,867,528 | C/T | — | benign |
| rs774051084 | 1:151,867,546 | C/T | — | uncertain significance |
| rs200698202 | 1:151,867,558 | C/T | — | uncertain significance |
| rs1349474960 | 1:151,867,614 | G/C | — | uncertain significance |
| rs761138464 | 1:151,867,631 | A/C | — | likely benign |
| rs201767984 | 1:151,867,651 | T/C | — | uncertain significance |
| rs7542137 | 1:151,868,892 | C/T | intron variant | — |
| rs778343849 | 1:151,881,850 | G/A | — | uncertain significance |
| rs1173180309 | 1:151,881,853 | C/T | — | uncertain significance |
| rs1054035476 | 1:151,881,924 | C/G | — | uncertain significance |
| rs771668983 | 1:151,881,925 | T/C | — | uncertain significance |
| rs10788817 | 1:151,882,856 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.