SHLD2

shieldin complex subunit 2

Summary

Involved in negative regulation of double-strand break repair via homologous recombination; positive regulation of double-strand break repair via nonhomologous end joining; and positive regulation of isotype switching. Located in actin cytoskeleton; nucleoplasm; and site of double-strand break. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants63 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14531962310:88,861,211T/Cintron variant
rs13808032510:88,869,475A/Gupstream gene variant
rs312946910:88,895,315T/A
rs312935310:88,901,802T/A
rs1120234510:88,908,801T/Cregulatory region variant
rs1120234610:88,908,912G/Tregulatory region variant
rs147201208010:88,911,122G/Auncertain significance
rs77906191210:88,911,388G/Tuncertain significance
rs13798984410:88,911,464C/Guncertain significance
rs19284656610:88,911,494C/Tuncertain significance
rs146824548510:88,911,499C/Tuncertain significance
rs53404446510:88,911,587G/Auncertain significance
rs254039612910:88,911,589G/Cuncertain significance
rs15060444010:88,911,772A/Glikely benign
rs254039782610:88,911,784G/Auncertain significance
rs14011835610:88,911,874G/Auncertain significance
rs77215867710:88,911,919G/Alikely benign
rs15002958210:88,911,925A/Gbenign
rs76397162410:88,911,946A/Guncertain significance
rs75376893910:88,911,947G/Auncertain significance
rs37427196810:88,911,949T/Guncertain significance
rs56575899710:88,911,952G/Auncertain significance
rs37771875410:88,911,959T/Cuncertain significance
rs77656221310:88,912,016G/Auncertain significance
rs184607742110:88,912,094A/Guncertain significance
rs117277630410:88,912,168G/Auncertain significance
rs20190761010:88,912,169A/Guncertain significance
rs184608347910:88,912,198A/Guncertain significance
rs75765581310:88,912,222T/Cuncertain significance
rs76897885610:88,912,300C/Guncertain significance
rs77703426910:88,912,303G/Cuncertain significance
rs123543022710:88,912,328C/Guncertain significance
rs74791356710:88,912,331A/Guncertain significance
rs14279886710:88,912,360C/Tuncertain significance
rs57258304210:88,912,427G/Tuncertain significance
rs75900418110:88,912,634C/Tuncertain significance
rs312950010:88,915,107A/T
rs14863482010:88,917,806T/Auncertain significance
rs76820067510:88,917,856C/Tuncertain significance
rs14206437710:88,917,876A/Guncertain significance
rs790345610:88,919,319C/Tintron variant
rs6078325710:88,922,632T/A
rs493431010:88,929,623G/A
rs493431110:88,929,652C/A
rs1120236510:88,930,249A/Tmissense variant
rs14651132910:88,930,261C/Tuncertain significance
rs75144113810:88,930,319C/Tuncertain significance
rs37535707810:88,930,388T/Cuncertain significance
rs141052323010:88,930,424T/Cuncertain significance
rs54297911710:88,939,849G/Auncertain significance
rs76240841810:88,939,889A/Guncertain significance
rs75427178510:88,939,913G/Auncertain significance
rs77934047110:88,939,921A/Guncertain significance
rs708160910:88,939,962T/Asynonymous variant
rs312943010:88,942,570G/Aintron variant
rs451588310:88,943,267T/Cintron variant
rs37021357710:88,946,888C/Tuncertain significance
rs658606310:88,949,045A/Gintron variant
rs143263523910:88,950,288C/Tuncertain significance
rs20090458110:88,950,292C/Guncertain significance
rs37399604810:88,950,309G/Auncertain significance
rs20070964010:88,950,418A/Tuncertain significance
rs312939910:88,951,662A/Gregulatory region variant

Gene information from NCBI Gene. Variant classifications from ClinVar.