TBC1D2

TBC1 domain family member 2

Summary

Enables GTPase activator activity and cadherin binding activity. Involved in positive regulation of GTPase activity. Located in several cellular components, including cytoplasmic vesicle; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants70 total

rsidPosition (GRCh37)AllelesClassClinVar
rs347698889:100,961,704C/Tbenign
rs7571140279:100,961,715C/Tuncertain significance
rs7649822949:100,961,718C/Tuncertain significance
rs2020752199:100,961,722G/Alikely benign
rs1920331929:100,961,730C/Tuncertain significance
rs24909162789:100,961,745T/Cuncertain significance
rs617487119:100,961,769C/Tbenign
rs10532626479:100,961,793C/Tuncertain significance
rs7692987009:100,961,829C/Tuncertain significance
rs1378687129:100,962,566G/Alikely benign
rs1479815929:100,963,778G/Abenign
rs7769002089:100,963,856C/Tlikely benign
rs3716265169:100,963,871C/Tuncertain significance
rs7524440639:100,963,891G/Tuncertain significance
rs7745461559:100,965,580G/Tuncertain significance
rs3764269289:100,965,635G/Cuncertain significance
rs1507802799:100,965,662C/Guncertain significance
rs2015010229:100,965,685G/Auncertain significance
rs17220394569:100,970,995A/Tuncertain significance
rs14897795159:100,970,998G/Auncertain significance
rs7507183659:100,971,008C/Guncertain significance
rs7592557419:100,971,044A/Cuncertain significance
rs17689126609:100,971,184A/Cuncertain significance
rs3776462749:100,971,202C/Tuncertain significance
rs9148915119:100,971,203G/Auncertain significance
rs2008638369:100,971,217C/Tuncertain significance
rs7618204009:100,971,232C/Tuncertain significance
rs7677201499:100,971,251C/Tuncertain significance
rs7688115949:100,971,392C/Tlikely benign
rs3710484169:100,973,032C/Tlikely benign
rs617566939:100,973,036G/Cbenign
rs14138752999:100,973,044C/Auncertain significance
rs10286590239:100,973,087G/Cuncertain significance
rs1505616279:100,973,115A/Clikely benign
rs7464054999:100,973,118T/Cuncertain significance
rs5301401819:100,974,620C/T
rs10008212169:100,975,423C/Auncertain significance
rs12379259899:100,983,120G/Tuncertain significance
rs2000052269:100,983,127T/Clikely benign
rs10201165189:100,983,158T/Cuncertain significance
rs9672002709:100,983,168C/Tuncertain significance
rs1439086149:100,983,215A/Gbenign
rs1468907189:100,983,229C/Tbenign
rs24910013639:100,983,254T/Cuncertain significance
rs9074665969:100,983,320G/Tuncertain significance
rs617535639:100,983,329G/Abenign
rs13792049669:100,983,342G/Auncertain significance
rs9030834729:100,983,368C/Auncertain significance
rs3748618199:100,983,381C/Tuncertain significance
rs7781570519:100,991,260G/Auncertain significance
rs5389990449:100,991,263T/Auncertain significance
rs7576910259:100,991,355C/Tuncertain significance
rs1390627069:100,991,356G/Tuncertain significance
rs5483428019:100,995,710C/Tuncertain significance
rs1390450559:100,995,812G/Auncertain significance
rs14635934329:101,006,288C/Tuncertain significance
rs3687377089:101,006,309T/Cuncertain significance
rs3730900469:101,006,361G/Tlikely benign
rs617535689:101,006,405T/Cuncertain significance
rs1401147759:101,014,205C/Tuncertain significance
rs24911239149:101,017,477G/Cuncertain significance
rs7782894999:101,017,537G/Auncertain significance
rs7597146259:101,017,582G/Auncertain significance
rs3727581539:101,017,608G/Cuncertain significance
rs1157367229:101,017,677A/Gbenign
rs3697110459:101,017,691G/Auncertain significance
rs1509279219:101,017,735G/Tuncertain significance
rs1995442609:101,017,736G/Auncertain significance
rs24911256619:101,017,748G/Tuncertain significance
rs1407867999:101,017,774C/Guncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.