SKAP2
src kinase associated phosphoprotein 2
Summary
The protein encoded by this gene shares homology with Src kinase-associated phosphoprotein 1, and is a substrate of Src family kinases. It is an adaptor protein that is thought to play an essential role in the Src signaling pathway, and in regulating proper activation of the immune system. This protein contains an amino terminal coiled-coil domain for self-dimerization, a plecskstrin homology (PH) domain required for interactions with lipids at the membrane, and a Src homology (SH3) domain at the carboxy terminus. Some reports indicate that this protein inhibits actin polymerization through interactions with actin assembly factors, and might negatively regulate the invasiveness of tumors by modulating actin assembly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11971098 | 7:26,699,061 | A/G | intergenic variant | — |
| rs17154402 | 7:26,765,085 | C/G | — | benign |
| rs2534526935 | 7:26,765,091 | G/A | — | uncertain significance |
| rs34506751 | 7:26,778,490 | G/A | — | benign |
| rs924911955 | 7:26,779,548 | G/C | — | uncertain significance |
| rs10239608 | 7:26,830,871 | A/T | intron variant | — |
| rs34790403 | 7:26,833,283 | T/C | intron variant | — |
| rs580904 | 7:26,848,812 | C/T | intron variant | — |
| rs1454457277 | 7:26,883,718 | C/A | — | uncertain significance |
| rs770027415 | 7:26,883,723 | G/T | — | uncertain significance |
| rs761724642 | 7:26,883,744 | T/G | — | uncertain significance |
| rs7804356 | 7:26,891,665 | T/C | intron variant | — |
| rs10486483 | 7:26,892,440 | G/A | intron variant | — |
| rs140223829 | 7:26,894,405 | T/C | — | likely benign |
| rs145659190 | 7:26,894,430 | A/C | — | uncertain significance |
| rs73069539 | 7:26,903,661 | C/T | regulatory region variant | — |
| rs140914133 | 7:26,903,991 | G/C | — | uncertain significance |
| rs137938529 | 7:26,904,014 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.