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TRIP11

Chr 14q32.12

thyroid hormone receptor interactor 11

Aliases:
CEV14, Trip230, GMAP-210, GMAP210
MANE:
ENST00000267622.8

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Osteogenesis imperfecta

Disease associations (Open Targets)

  • Achondrogenesis type 1A

    0.79
  • odontochondrodysplasia 1

    0.75
  • achondrogenesis type IA

    0.64
  • cancer

    0.58
  • achondrogenesis

    0.47
  • connective tissue disorder

    0.46
  • TRIP11-related skeletal dysplasia

    0.44
  • hereditary disease

    0.42
  • odontochondrodysplasia

    0.38
  • neurodegenerative disease

    0.26

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

Protein function (UniProt)

Thyroid receptor-interacting protein 11

Is a membrane tether required for vesicle tethering to Golgi. Has an essential role in the maintenance of Golgi structure and function (PubMed:25473115, PubMed:30728324). It is required for efficient anterograde and retrograde trafficking in the early secretory pathway, functioning at both the ER-to-Golgi intermediate compartment (ERGIC) and Golgi complex (PubMed:25717001). Binds the ligand binding domain of the thyroid receptor (THRB) in the presence of triiodothyronine and enhances THRB-modulated transcription

Curated MONDO disease pages that list TRIP11 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.