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DNAJB4

Chr 1p31.1

DnaJ heat shock protein family (Hsp40) member B4

Aliases:
HLJ1
MANE:
ENST00000370763.6
OMIM: 611327 ↗NCBI: 11080 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Congenital myopathy

    BIALLELIC, autosomal or pseudoautosomal

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • congenital myopathy 21 with early respiratory failure

    0.67

  • obesity disorder

    0.17

  • Abnormality of the skeletal system

    0.14

  • hair color

    0.12

  • amyotrophic lateral sclerosis

    0.11

  • neoplasm

    0.10

  • breast cancer

    0.10

  • amyotrophic lateral sclerosis type 20

    0.10

  • breast carcinoma

    0.10

  • inclusion body myopathy with Paget disease of bone and frontotemporal dementia

    0.10

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

Protein function (UniProt)

DnaJ homolog subfamily B member 4

Probable chaperone. Stimulates ATP hydrolysis and the folding of unfolded proteins mediated by HSPA1A/B (in vitro) (PubMed:24318877)

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.