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DNAJC21

Chr 5p13.2

DnaJ heat shock protein family (Hsp40) member C21

Aliases:
GS3, DNAJA5, JJJ1
MANE:
ENST00000648817.1

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Cytopenia - NOT Fanconi anaemia

    BIALLELIC, autosomal or pseudoautosomal
  • Cytopenias and congenital anaemias

    BIALLELIC, autosomal or pseudoautosomal
  • Haematological malignancies cancer susceptibility

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • autosomal dominant aplasia and myelodysplasia

    0.77
  • neurodegenerative disease

    0.50
  • inherited bone marrow failure syndrome

    0.47
  • Bone marrow hypocellularity

    0.46
  • neutropenia, severe congenital, 8, autosomal dominant

    0.46
  • Pancytopenia

    0.46
  • Shwachman-Diamond syndrome

    0.46
  • hereditary disease

    0.41
  • Shwachman-Diamond syndrome 1

    0.36
  • asthma

    0.26

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

DnaJ homolog subfamily C member 21

May act as a co-chaperone for HSP70. May play a role in ribosomal RNA (rRNA) biogenesis, possibly in the maturation of the 60S subunit. Binds the precursor 45S rRNA

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.