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DNAJB11

Chr 3q27.3

DnaJ heat shock protein family (Hsp40) member B11

Aliases:
EDJ, HEDJ, ERdj3
MANE:
ENST00000265028.8

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Cystic kidney disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Ductal plate malformation

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Polycystic liver disease

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Tubulointerstitial kidney disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • polycystic kidney disease 6 with or without polycystic liver disease

    0.76
  • autosomal dominant polycystic kidney disease

    0.49
  • hereditary disease

    0.41
  • polycystic kidney disease

    0.37
  • cystic kidney disease

    0.37
  • dengue disease

    0.37
  • familial juvenile hyperuricemic nephropathy

    0.37
  • stage 5 chronic kidney disease

    0.37
  • Renal cyst

    0.34
  • Meckel syndrome

    0.34

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

Protein function (UniProt)

DnaJ homolog subfamily B member 11

As a co-chaperone for HSPA5 it is required for proper folding, trafficking or degradation of proteins (PubMed:10827079, PubMed:15525676, PubMed:29706351). Binds directly to both unfolded proteins that are substrates for ERAD and nascent unfolded peptide chains, but dissociates from the HSPA5-unfolded protein complex before folding is completed (PubMed:15525676). May help recruiting HSPA5 and other chaperones to the substrate. Stimulates HSPA5 ATPase activity (PubMed:10827079). It is necessary for maturation and correct trafficking of PKD1 (PubMed:29706351)

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.