DNAJB11 DnaJ heat shock protein family (Hsp40) member B11
Gene ID: 51726, updated on 7-Apr-2024Gene type: protein coding
Also known as: DJ9; EDJ; Dj-9; ERj3; PKD6; ABBP2; ERdj3; ERj3p; ABBP-2; UNQ537; PRO1080
- See all available tests in GTR for this gene
- Go to complete Gene record for DNAJB11
- Go to Variation Viewer for DNAJB11 variants
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]
Associated conditions
Genomic context
- Location:
- 3q27.3
- Sequence:
- Chromosome: 3; NC_000003.12 (186570720..186585793)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DNAJB11 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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