CSK
C-terminal Src kinase
Summary
The protein encoded by this gene is involved in multiple pathways, including the regulation of Src family kinases. It plays an important role in T-cell activation through its association with the protein encoded by the protein tyrosine phosphatase, non-receptor type 22 (PTPN22) gene. This protein also phosphorylates C-terminal tyrosine residues on multiple substrates, including the protein encoded by the SRC proto-oncogene, non-receptor tyrosine kinase gene. Phosphorylation suppresses the kinase activity of the Src family tyrosine kinases. An intronic polymorphism (rs34933034) in this gene has been found to affect B-cell activation and is associated with systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2017]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1378942 | 15:75,077,367 | C/A | downstream gene variant | — |
| rs34933034 | 15:75,079,474 | G/T | — | — |
| rs2168518 | 15:75,081,078 | G/A | coding sequence variant | — |
| rs1378940 | 15:75,083,494 | C/G | — | — |
| rs62006566 | 15:75,086,534 | C/G | — | — |
| rs11635664 | 15:75,088,962 | G/T | intron variant | — |
| rs12898997 | 15:75,090,349 | C/T | intron variant | — |
| rs747892475 | 15:75,091,004 | G/A | — | uncertain significance |
| rs2505646104 | 15:75,091,175 | C/G | — | uncertain significance |
| rs11553759 | 15:75,091,230 | G/A | — | uncertain significance |
| rs367837559 | 15:75,091,634 | A/C | — | likely benign |
| rs751418156 | 15:75,091,651 | G/A | — | uncertain significance |
| rs780001574 | 15:75,091,666 | C/T | — | uncertain significance |
| rs1325558907 | 15:75,091,737 | G/A | — | uncertain significance |
| rs34866753 | 15:75,093,909 | G/A | — | benign |
| rs767170810 | 15:75,094,182 | C/T | — | uncertain significance |
| rs202236681 | 15:75,094,709 | A/G | — | uncertain significance |
| rs147023686 | 15:75,094,783 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.