DNAJB4 DnaJ heat shock protein family (Hsp40) member B4
Gene ID: 11080, updated on 17-Sep-2024Gene type: protein coding
Also known as: DjB4; HLJ1; DNAJW; CMYO21; CMYP21
- See all available tests in GTR for this gene
- Go to complete Gene record for DNAJB4
- Go to Variation Viewer for DNAJB4 variants
Summary
The protein encoded by this gene is a molecular chaperone, tumor suppressor, and member of the heat shock protein-40 family. The encoded protein binds the cell adhesion protein E-cadherin and targets it to the plasma membrane. This protein also binds incorrectly folded E-cadherin and targets it for endoplasmic reticulum-associated degradation. This gene is a strong tumor suppressor for colorectal carcinoma, and downregulation of it may serve as a good biomarker for predicting patient outcomes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Congenital myopathy 21 with early respiratory failure | not available |
Genomic context
- Location:
- 1p31.1
- Sequence:
- Chromosome: 1; NC_000001.11 (77979175..78017964)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DNAJB4 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
- Variation ViewerRelated Variants
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