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

rsidPosition (GRCh37)AllelesClassClinVar
rs137894215:75,077,367C/Adownstream gene variant
rs3493303415:75,079,474G/T
rs216851815:75,081,078G/Acoding sequence variant
rs137894015:75,083,494C/G
rs6200656615:75,086,534C/G
rs1163566415:75,088,962G/Tintron variant
rs1289899715:75,090,349C/Tintron variant
rs74789247515:75,091,004G/Auncertain significance
rs250564610415:75,091,175C/Guncertain significance
rs1155375915:75,091,230G/Auncertain significance
rs36783755915:75,091,634A/Clikely benign
rs75141815615:75,091,651G/Auncertain significance
rs78000157415:75,091,666C/Tuncertain significance
rs132555890715:75,091,737G/Auncertain significance
rs3486675315:75,093,909G/Abenign
rs76717081015:75,094,182C/Tuncertain significance
rs20223668115:75,094,709A/Guncertain significance
rs14702368615:75,094,783G/Abenign

Gene information from NCBI Gene. Variant classifications from ClinVar.