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SRP19

Chr 5q22.2

signal recognition particle 19

MANE:
ENST00000505459.6

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Cytopenia - NOT Fanconi anaemia

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • familial adenomatous polyposis 1

    0.42
  • severe congenital neutropenia

    0.38
  • autosomal dominant severe congenital neutropenia

    0.37
  • Shwachman-Diamond syndrome 1

    0.33
  • neurodegenerative disease

    0.28
  • arthropathy

    0.10
  • aortic valve stenosis

    0.04
  • stroke disorder

    0.04
  • alcohol drinking

    0.04
  • cancer

    0.02

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

Protein function (UniProt)

Signal recognition particle 19 kDa protein

Component of the signal recognition particle (SRP) complex, a ribonucleoprotein complex that mediates the cotranslational targeting of secretory and membrane proteins to the endoplasmic reticulum (ER) (By similarity). Binds directly to 7SL RNA (By similarity). Mediates binding of SRP54 to the SRP complex (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.