DNAJB11

DnaJ heat shock protein family (Hsp40) member B11

Summary

This gene encodes a soluble glycoprotein of the endoplasmic reticulum (ER) lumen that functions as a co-chaperone of binding immunoglobulin protein, a 70 kilodalton heat shock protein chaperone required for the proper folding and assembly of proteins in the ER. The encoded protein contains a highly conserved J domain of about 70 amino acids with a characteristic His-Pro-Asp (HPD) motif and may regulate the activity of binding immunoglobulin protein by stimulating ATPase activity. [provided by RefSeq, Mar 2014]

Known Variants99 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs56324474	3:186,287,166	G/A	intron variant	—
rs114104753	3:186,288,418	C/T	—	benign
rs3806714	3:186,288,565	A/G	—	benign
rs149168314	3:186,288,681	G/A	—	likely benign
rs373431036	3:186,288,709	C/T	—	uncertain significance
rs538824536	3:186,288,713	T/A	—	uncertain significance
rs755963875	3:186,288,725	G/A	—	likely benign
rs375248047	3:186,288,728	A/G	—	likely benign
rs775986965	3:186,288,737	C/T	—	likely benign
rs1446145842	3:186,288,746	G/A	—	uncertain significance
rs3733160	3:186,288,810	G/A	—	benign
rs535800631	3:186,288,824	G/A	—	—
rs713484	3:186,289,673	T/G	—	benign
rs757507181	3:186,289,869	C/T	—	likely benign
rs761209634	3:186,289,877	T/G	—	likely benign
rs2108473228	3:186,289,885	C/T	—	pathogenic
rs1715084223	3:186,289,913	C/T	—	uncertain significance
rs148976481	3:186,289,915	C/T	—	pathogenic
rs767931261	3:186,289,929	A/G	—	uncertain significance
rs201740359	3:186,289,945	G/T	—	uncertain significance
rs2474556395	3:186,289,966	C/T	—	pathogenic
rs1553849919	3:186,289,976	C/G	missense variant	pathogenic
rs1553849920	3:186,289,981	—	—	pathogenic
rs1715089796	3:186,290,001	A/C	—	uncertain significance
rs2474556592	3:186,290,033	C/T	—	uncertain significance
rs2010555	3:186,290,155	G/A	—	benign
rs1961331	3:186,290,211	A/C	—	benign
rs1823215	3:186,290,213	G/C	—	benign
rs115211156	3:186,293,580	T/C	—	benign
rs2280391	3:186,293,588	A/G	—	benign
rs41268607	3:186,293,612	C/G	—	uncertain significance
rs139260755	3:186,293,626	C/T	—	benign
rs1553850185	3:186,293,633	T/C	missense variant	pathogenic
rs747166485	3:186,293,661	C/T	—	likely benign
rs774781101	3:186,293,670	T/C	—	likely benign
rs376563893	3:186,293,742	A/G	—	benign
rs200704279	3:186,293,745	T/C	—	benign
rs56227532	3:186,293,819	T/C	—	benign
rs2280390	3:186,293,820	T/G	—	benign
rs2280389	3:186,293,890	T/C	—	benign
rs116570955	3:186,294,868	G/C	intron variant	—
rs1715347245	3:186,295,492	C/A	—	uncertain significance
rs2108479923	3:186,295,497	C/T	—	uncertain significance
rs2474568617	3:186,295,513	A/G	—	uncertain significance
rs2474568625	3:186,295,514	T/C	—	likely benign
rs965107566	3:186,295,528	G/A	—	uncertain significance
rs749748629	3:186,295,540	T/C	—	uncertain significance
rs1273228187	3:186,295,563	G/T	—	likely pathogenic
rs1715351545	3:186,295,573	C/T	—	uncertain significance
rs1214226519	3:186,295,585	T/G	—	uncertain significance
rs2108480084	3:186,295,592	A/G	—	uncertain significance
rs11921733	3:186,299,107	G/A	—	benign
rs2108483755	3:186,299,157	T/G	—	uncertain significance
rs1038766426	3:186,299,171	C/G	—	uncertain significance
rs2474576328	3:186,299,179	T/C	—	uncertain significance
rs1351138670	3:186,299,182	—	—	pathogenic
rs1715478984	3:186,299,190	G/T	—	uncertain significance
rs1364686652	3:186,299,230	G/A	—	uncertain significance
rs759619633	3:186,299,282	C/T	—	likely benign
rs138789127	3:186,299,285	C/T	—	likely benign
rs1291035657	3:186,299,286	G/C	—	uncertain significance
rs6770868	3:186,299,614	G/A	—	benign
rs371152451	3:186,299,777	A/G	—	uncertain significance
rs2108484340	3:186,299,782	A/C	—	likely pathogenic
rs941713150	3:186,299,800	C/T	stop gained	pathogenic
rs2474578212	3:186,299,866	G/T	—	uncertain significance
rs375052103	3:186,299,884	G/C	—	benign
rs6784026	3:186,299,905	T/C	—	benign
rs77313009	3:186,300,497	C/G	—	benign
rs2474579444	3:186,300,507	G/A	—	uncertain significance
rs1052638550	3:186,300,515	C/G	—	uncertain significance
rs1467165282	3:186,300,527	G/T	—	uncertain significance
rs765764090	3:186,300,546	C/T	—	pathogenic
rs9851299	3:186,300,683	G/T	—	benign
rs41268613	3:186,301,477	A/G	—	benign
rs1715569679	3:186,301,656	A/T	—	uncertain significance
rs141441408	3:186,301,661	A/G	—	conflicting classifications of pathogenicity
rs748420874	3:186,301,681	T/A	—	likely benign
rs8147	3:186,301,703	A/G	—	benign
rs1715573698	3:186,301,713	T/C	—	uncertain significance
rs567082628	3:186,301,748	C/T	—	uncertain significance
rs2474581972	3:186,301,769	A/G	—	uncertain significance
rs6444145	3:186,301,785	C/T	—	benign
rs13326516	3:186,301,840	T/G	—	benign
rs73183900	3:186,301,976	C/G	regulatory region variant	—
rs1327056434	3:186,302,208	T/G	—	likely benign
rs201669927	3:186,302,231	C/T	—	uncertain significance
rs758228321	3:186,302,232	G/A	—	uncertain significance
rs1015823284	3:186,302,239	G/C	—	uncertain significance
rs149504761	3:186,302,261	C/G	—	uncertain significance
rs779151489	3:186,302,289	A/G	—	likely benign
rs772358902	3:186,302,301	A/G	—	uncertain significance
rs61758419	3:186,302,383	G/A	—	benign
rs3222398	3:186,302,392	G/T	—	benign
rs112885079	3:186,302,424	A/G	—	benign
rs773056034	3:186,303,139	A/G	—	uncertain significance
rs1303862732	3:186,303,141	C/T	—	uncertain significance
rs2474585620	3:186,303,157	G/C	—	uncertain significance
rs140521819	3:186,303,179	T/C	—	benign

Gene information from NCBI Gene. Variant classifications from ClinVar.