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DNAJB13

Chr 11q13.4

DnaJ heat shock protein family (Hsp40) member B13

Aliases:
TSARG6, RSPH16A
MANE:
ENST00000339764.6
OMIM: 610263 ↗NCBI: 374407 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Respiratory ciliopathies including non-CF bronchiectasis

    BIALLELIC, autosomal or pseudoautosomal

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

  • Laterality disorders and isomerism

  • Rare multisystem ciliopathy disorders

Disease associations (Open Targets)

  • primary ciliary dyskinesia

    0.63

  • neurodegenerative disease

    0.36

  • Cough

    0.12

  • colonic neoplasm

    0.01

  • malignant colon neoplasm

    0.01

  • male infertility

    0.01

  • cryptorchidism

    0.01

  • nasopharyngeal neoplasm

    0.01

  • neoplasm

    0.00

  • Infertility

    0.00

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

Protein function (UniProt)

DnaJ homolog subfamily B member 13

Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia

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.