DNAJC21 DnaJ heat shock protein family (Hsp40) member C21
Gene ID: 134218, updated on 7-Apr-2024Gene type: protein coding
Also known as: GS3; JJJ1; BMFS3; DNAJA5
- See all available tests in GTR for this gene
- Go to complete Gene record for DNAJC21
- Go to Variation Viewer for DNAJC21 variants
Summary
This gene encodes a member of the DNAJ heat shock protein 40 family of proteins that is characterized by two N-terminal tetratricopeptide repeat domains and a C-terminal DNAJ domain. This protein binds the precursor 45S ribosomal RNA and may be involved in early nuclear ribosomal RNA biogenesis and maturation of the 60S ribosomal subunit. Mutations in this gene result in Bone marrow failure syndrome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Bone marrow failure syndrome 3 | See labs |
| Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker. GeneReviews: Not available | |
| Shwachman syndrome MedGen: C0272170GeneReviews: Shwachman-Diamond Syndrome | See labs |
| Shwachman-Diamond syndrome 1 | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-10-14) ClinGen Genome Curation PageHaploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2020-10-14) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 5p13.2
- Sequence:
- Chromosome: 5; NC_000005.10 (34929559..34958964)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DNAJC21 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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