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/Gbenign
rs25345269357:26,765,091G/Auncertain significance
rs345067517:26,778,490G/Abenign
rs9249119557:26,779,548G/Cuncertain significance
rs102396087:26,830,871A/Tintron variant
rs347904037:26,833,283T/Cintron variant
rs5809047:26,848,812C/Tintron variant
rs14544572777:26,883,718C/Auncertain significance
rs7700274157:26,883,723G/Tuncertain significance
rs7617246427:26,883,744T/Guncertain significance
rs78043567:26,891,665T/Cintron variant
rs104864837:26,892,440G/Aintron variant
rs1402238297:26,894,405T/Clikely benign
rs1456591907:26,894,430A/Cuncertain significance
rs730695397:26,903,661C/Tregulatory region variant
rs1409141337:26,903,991G/Cuncertain significance
rs1379385297:26,904,014G/Abenign

Gene information from NCBI Gene. Variant classifications from ClinVar.