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TRAF3IP2

Chr 6q21

TRAF3 interacting protein 2

Aliases:
DKFZP586G0522, ACT1, CIKS
MANE:
ENST00000368761.11

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal
  • Generalised pustular psoriasis

    Unknown

Disease associations (Open Targets)

  • Chronic mucocutaneous candidosis

    0.72
  • psoriasis

    0.67
  • rheumatoid arthritis

    0.59
  • psoriasis vulgaris

    0.52
  • psoriatic arthritis

    0.52
  • type 2 diabetes mellitus

    0.43
  • skin disorder

    0.43
  • inflammatory bowel disease

    0.41
  • neurodegenerative disease

    0.41
  • chronic mucocutaneous candidiasis

    0.38

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

Protein function (UniProt)

E3 ubiquitin ligase TRAF3IP2

E3 ubiquitin ligase that catalyzes 'Lys-63'-linked polyubiquitination of target protein, enhancing protein-protein interaction and cell signaling (PubMed:19825828). Transfers ubiquitin from E2 ubiquitin-conjugating enzyme UBE2V1-UBE2N to substrate protein (PubMed:19825828). Essential adapter molecule in IL17A-mediated signaling (PubMed:19825828, PubMed:24120361). Upon IL17A stimulation, interacts with IL17RA and IL17RC receptor chains through SEFIR domains and catalyzes 'Lys-63'-linked polyubiquitination of TRAF6, leading to TRAF6-mediated activation of NF-kappa-B and MAPkinase pathways (PubMed:19825828)

Curated MONDO disease pages that list TRAF3IP2 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.