ADAP2

ArfGAP with dual PH domains 2

Summary

The protein encoded by this gene binds beta-tubulin and increases the stability of microtubules. The encoded protein can also translocate to the cell membrane and bind phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4). In addition, this protein is a GTPase-activating protein for ADP ribosylation factor 6 and may be able to block the entry of some RNA viruses. [provided by RefSeq, Oct 2016]

Known Variants24 total

rsidPosition (GRCh37)AllelesClassClinVar
rs376031817:29,247,715G/Aregulatory region variant
rs128764275917:29,249,072C/Guncertain significance
rs75968781817:29,250,074G/Cuncertain significance
rs119341570617:29,250,080A/Guncertain significance
rs3584063817:29,251,641G/Aintron variant
rs135431212317:29,253,848A/Tuncertain significance
rs14407598117:29,253,870G/Auncertain significance
rs20167940917:29,253,877G/Tuncertain significance
rs254419224117:29,253,914A/Cuncertain significance
rs77346415217:29,253,935C/Guncertain significance
rs37686829217:29,258,948G/Alikely benign
rs13987637017:29,261,239A/Guncertain significance
rs77609803817:29,261,287G/Tuncertain significance
rs36856348617:29,271,932G/Tuncertain significance
rs75427915017:29,272,065T/Auncertain significance
rs126155167617:29,276,333G/Auncertain significance
rs13959498617:29,280,349T/Cuncertain significance
rs20179986617:29,281,526G/Auncertain significance
rs14421244117:29,283,268G/Auncertain significance
rs254429776217:29,283,305G/Tuncertain significance
rs190507223117:29,283,394G/Cuncertain significance
rs20114873017:29,283,481C/Tuncertain significance
rs55634020117:29,284,450A/T
rs140866953117:29,284,873C/Auncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.