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DNAJC13

Chr 3q22.1

DnaJ heat shock protein family (Hsp40) member C13

Aliases:
RME8, KIAA0678
MANE:
ENST00000260818.11

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Adult onset neurodegenerative disorder

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • Hereditary late-onset Parkinson disease

    0.47
  • Parkinson disease

    0.45
  • gout

    0.43
  • sleep apnea syndrome

    0.39
  • essential tremor

    0.38
  • late-onset Parkinson disease

    0.36
  • Abnormality of the skeletal system

    0.32
  • Abnormality of refraction

    0.29
  • frozen shoulder

    0.29
  • melanoma

    0.20

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

Protein function (UniProt)

DnaJ homolog subfamily C member 13

Involved in membrane trafficking through early endosomes, such as the early endosome to recycling endosome transport implicated in the recycling of transferrin and the early endosome to late endosome transport implicated in degradation of EGF and EGFR (PubMed:18256511, PubMed:18307993). Involved in the regulation of endosomal membrane tubulation and regulates the dynamics of SNX1 on the endosomal membrane; via association with WASHC2 may link the WASH complex to the retromer SNX-BAR subcomplex (PubMed:24643499)

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.