Alt. symbols: GS3 | DNAJA5 | JJJ1

Approved name: DnaJ heat shock protein family (Hsp40) member C21
Alt. names: DnaJ (Hsp40) homolog, subfamily C, member 21 | JJJ1 DnaJ domain protein homolog (S. cerevisiae)

Location: 5p13.2: 34929559 - 34958964 (+)
Gene type: protein_coding, 15 transcripts.

Scores: LoFtool: 0.958000 | pLI: 0.00001451 | LOEUF: 0.720

HGNC: 27030

NCBI: 134218, RefSeq: NG_052822.1

Ensembl: ENSG00000168724.18

LRG_1214 | Status: public

OMIM: 617048

Expression | ProteinAtlas

DNAJC21 encodes a member of a highly conserved protein family involved in translation, protein folding and unfolding, translocation, and degradation, primarily by stimulating the ATPase activity of HSP70 chaperone proteins. As such, it is thought to act as a co-chaperone for HSP70 family members and play a role in ribosomal RNA (rRNA) biogenesis, possibly in 60S subunit maturation.

Biallelic nonsense, missense, frameshift and deletion mutations in DNAJC21 are associated with bone marrow failure syndrome-3 [OMIM:617052], an autosomal recessive disorder with features overlapping both Shwachman-Diamond syndromes (SDS) and dyskeratosis congenita/short telomere syndromes. These include early onset pancytopenia and/or aplastic anemia; short stature, poor growth and otherwise impaired development; microcephaly; and dental, skin and hair abnormalities. In addition, some patients m ay have recurrent infections; pancreatic insufficiency and liver disease; joint and skeletal abnormalities; retinal dysplasia and other ophthalmologic findings; genito-urinary anomalies; and shortened telomeres. Of note, IBD has been associated with multiple short telomere disorders, including patients with RTEL1 and DKC1 mutations (PMID: 28930861, 32710398), while altered telomere binding protein expression has been found in IBD patients (PMID: 20061197). Moreover, an IBD-like presentation has been reported for patients with SDS-associated mutations in SBDS (PMID: 31196706) or SRP54 (PMID: 32633164). Indeed, unspecified immune defects, enteropathy, inflammatory polyps, and history of colectomy have been described for patients with DNAJC21 mutations (PMID: 27346687). [Load More]