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TRIM2

Chr 4q31.3

tripartite motif containing 2

Aliases:
KIAA0517, RNF86, CMT2R
MANE:
ENST00000338700.10

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Hereditary neuropathy

    BIALLELIC, autosomal or pseudoautosomal
  • Hereditary neuropathy or pain disorder

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Charcot-Marie-Tooth disease type 2R

    0.70
  • thyrotoxic periodic paralysis

    0.30
  • Tietze syndrome

    0.27
  • Abnormality of the integument

    0.26
  • cervical carcinoma

    0.21
  • ovarian neoplasm

    0.21
  • thrombophilia

    0.20
  • cardiomyopathy

    0.20
  • axonal neuropathy

    0.12
  • nonpapillary renal cell carcinoma

    0.09

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

Protein function (UniProt)

Tripartite motif-containing protein 2

UBE2D1-dependent E3 ubiquitin-protein ligase that mediates the ubiquitination of NEFL and of phosphorylated BCL2L11. Plays a neuroprotective function. May play a role in neuronal rapid ischemic tolerance. Plays a role in antiviral immunity and limits New World arenavirus infection independently of its ubiquitin ligase activity (PubMed:24068738)

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.