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CASP10

Chr 2q33.1

caspase 10

Aliases:
MCH4, FLICE-2
MANE:
ENST00000286186.11

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Cytopenia - NOT Fanconi anaemia

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • autoimmune lymphoproliferative syndrome type 2A

    0.63
  • gastric cancer

    0.56
  • autoimmune lymphoproliferative syndrome

    0.55
  • lymphoma

    0.46
  • non-Hodgkin lymphoma

    0.46
  • B-cell chronic lymphocytic leukemia

    0.32
  • rheumatoid arthritis

    0.24
  • lymphoma, non-Hodgkin, familial

    0.18
  • alcohol drinking

    0.16
  • stroke disorder

    0.16

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

Protein function (UniProt)

Caspase-10

Involved in the activation cascade of caspases responsible for apoptosis execution. Recruited to both Fas- and TNFR-1 receptors in a FADD dependent manner. May participate in the granzyme B apoptotic pathways. Cleaves and activates effector caspases CASP3, CASP4, CASP6, CASP7, CASP8 and CASP9. Hydrolyzes the small- molecule substrates, Tyr-Val-Ala-Asp-|-AMC and Asp-Glu-Val-Asp-|-AMC

Curated MONDO disease pages that list CASP10 among their top associated genes.

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.