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DNAJC7

Chr 17q21.2

DnaJ heat shock protein family (Hsp40) member C7

Aliases:
TPR2
MANE:
ENST00000457167.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Adult onset neurodegenerative disorder

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • amyotrophic lateral sclerosis

    0.41
  • Neurodevelopmental delay

    0.12
  • epilepsy

    0.12
  • hepatocellular carcinoma

    0.08
  • metabolic dysfunction-associated steatotic liver disease

    0.06
  • hypertriglyceridemia 2

    0.06
  • Hyperlipoproteinemia type 5

    0.06
  • hyperlipoproteinemia type V

    0.06
  • glycogen storage disease VI

    0.05
  • neonatal intrahepatic cholestasis due to citrin deficiency

    0.05

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

Protein function (UniProt)

DnaJ homolog subfamily C member 7

Acts as a co-chaperone regulating the molecular chaperones HSP70 and HSP90 in folding of steroid receptors, such as the glucocorticoid receptor and the progesterone receptor. Proposed to act as a recycling chaperone by facilitating the return of chaperone substrates to early stages of chaperoning if further folding is required. In vitro, induces ATP-independent dissociation of HSP90 but not of HSP70 from the chaperone-substrate complexes. Recruits NR1I3 to the cytoplasm (By similarity)

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.