Home > Gene Browser > DNAJB11

DNAJB11

Synonyms
ABBP-2, ABBP2, DJ9, Dj-9, EDJ, ERdj3, ERj3, ERj3p, PKD6, PRO1080, UNQ537
External resources
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
36,503
Likely benign
2,883
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on DNAJB11 gene.

Phenotype class
Patients in 3billion (%)

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes