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

rsidPosition (GRCh37)AllelesClassClinVar
rs119710987:26,699,061A/Gintergenic variant—
rs171544027:26,765,085C/G—benign
rs25345269357:26,765,091G/A—uncertain significance
rs345067517:26,778,490G/A—benign
rs9249119557:26,779,548G/C—uncertain significance
rs102396087:26,830,871A/Tintron variant—
rs347904037:26,833,283T/Cintron variant—
rs5809047:26,848,812C/Tintron variant—
rs14544572777:26,883,718C/A—uncertain significance
rs7700274157:26,883,723G/T—uncertain significance
rs7617246427:26,883,744T/G—uncertain significance
rs78043567:26,891,665T/Cintron variant—
rs104864837:26,892,440G/Aintron variant—
rs1402238297:26,894,405T/C—likely benign
rs1456591907:26,894,430A/C—uncertain significance
rs730695397:26,903,661C/Tregulatory region variant—
rs1409141337:26,903,991G/C—uncertain significance
rs1379385297:26,904,014G/A—benign

Gene information from NCBI Gene. Variant classifications from ClinVar.