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CARD14

Chr 17q25.3

caspase recruitment domain family member 14

Aliases:
CARMA2, BIMP2
MANE:
ENST00000648509.2

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Autoinflammatory disorders

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • COVID-19 research

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Generalised pustular psoriasis

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Ichthyosis and erythrokeratoderma

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Palmoplantar keratoderma and erythrokeratodermas

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Pityriasis rubra pilaris

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Rare genetic inflammatory skin disorders

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

  • psoriasis 2

    0.82
  • pityriasis rubra pilaris

    0.81
  • familial pityriasis rubra pilaris

    0.71
  • erythematosquamous dermatosis

    0.45
  • psoriasis

    0.44
  • skin disorder

    0.38
  • seborrheic dermatitis

    0.37
  • psoriasis vulgaris

    0.36
  • psoriasis 14, pustular

    0.36
  • cervical carcinoma

    0.28

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

Protein function (UniProt)

Caspase recruitment domain-containing protein 14

Acts as a scaffolding protein that can activate the inflammatory transcription factor NF-kappa-B and p38/JNK MAP kinase signaling pathways. Forms a signaling complex with BCL10 and MALT1, and activates MALT1 proteolytic activity and inflammatory gene expression. MALT1 is indispensable for CARD14-induced activation of NF-kappa-B and p38/JNK MAP kinases (PubMed:11278692, PubMed:21302310, PubMed:27071417, PubMed:27113748). May play a role in signaling mediated by TRAF2, TRAF3 and TRAF6 and protects cells against apoptosis

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.