Gene
DNAJC21
DnaJ heat shock protein family (Hsp40) member C21
- HGNC 27030↗(opens in a new tab)
- Ensembl gene ENSG00000168724↗(opens in a new tab)
- NCBI Gene 134218↗(opens in a new tab)
Summary
- Cytogenetic location
- 5p13.2
- Coordinates
- Chromosome 5: 34,929,559–34,958,964 (GRCh38)
- Exons
- 12 exons across 29.4 kb
- Protein
- 531 amino acids
- Also known as
- GS3, DNAJA5, JJJ1
- MANE Select transcript
- ENST00000648817.1NM_001012339.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
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Rare Inherited Bone Marrow Failure Syndromes
- Bone Marrow Failure Syndrome
A group of rare conditions linked to genes such as DNAJC21, MYSM1 and SRP72, and to combined ADH5 and ALDH2 deficiency (AMED syndrome), causing low blood counts, sometimes with developmental or other features.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
What knowing changes
A diagnosis informs the choice of related stem cell donors and transplant preparation, and supports monitoring for myelodysplastic syndrome and leukaemia.
How DNAJC21 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 6.1 kb of the gene's 29.4 kb; 1,596 of those bases code for the protein.
How a genome test reads DNAJC21
13
positions in DNAJC21 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 29.4 kb of DNAJC21, introns included, not only the 6.1 kb of exons.
Genes linked to the same conditions
Traits linked to DNAJC21
The Human Phenotype Ontology lists these as features of the rare conditions DNAJC21 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the digestive system
- Hyperechogenic pancreas
- Abnormality of the gastrointestinal tract
- Fat malabsorption
- Inability to properly digest food due to lack of pancreatic digestive enzymes
- Fat in feces
- Malnutrition
- Underdeveloped pancreas
- Feeding difficulties
Show 2 more traits
Abnormality of the immune system
- Eczema
- Pneumonia
- Recurrent bacterial infections
- Recurrent infections
- Recurrent viral infections
- Skin rash
- Bone infection
- Decreased immune function
Show 1 more trait
Abnormality of the nervous system
- Behavioral abnormality
- Global developmental delay
- Autism spectrum disorder
- Intellectual disability
- Motor delay
- Short attention span
- More active than typical
- Intellectual disability, mild
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). DNAJC21 gene: DnaJ heat shock protein family (Hsp40) member C21. Retrieved 17 October 2026, from https://dantelabs.com/genes/dnajc21
Dante Labs. DNAJC21 gene: DnaJ heat shock protein family (Hsp40) member C21 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/dnajc21
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