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TRIP13

Chr 5p15.33

thyroid hormone receptor interactor 13

Aliases:
16E1BP
MANE:
ENST00000166345.8
OMIM: 604507 ↗NCBI: 9319 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Childhood solid tumours

    BIALLELIC, autosomal or pseudoautosomal

  • Childhood solid tumours cancer susceptibility

    BIALLELIC, autosomal or pseudoautosomal

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

  • Embryonal tumour of possible germline origin

    BIALLELIC, autosomal or pseudoautosomal

  • Early onset or syndromic epilepsy

    BIALLELIC, autosomal or pseudoautosomal

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

  • Severe microcephaly

    BIALLELIC, autosomal or pseudoautosomal

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • mosaic variegated aneuploidy syndrome 3

    0.70

  • oocyte maturation defect 9

    0.60

  • neurodegenerative disease

    0.55

  • mosaic variegated aneuploidy syndrome

    0.50

  • Wilms tumor

    0.37

  • Nephroblastoma

    0.37

  • lysosomal storage disease

    0.37

  • hepatocellular carcinoma

    0.12

  • neoplasm

    0.11

  • colorectal carcinoma

    0.11

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

Protein function (UniProt)

Pachytene checkpoint protein 2 homolog

Plays a key role in chromosome recombination and chromosome structure development during meiosis. Required at early steps in meiotic recombination that leads to non-crossovers pathways. Also needed for efficient completion of homologous synapsis by influencing crossover distribution along the chromosomes affecting both crossovers and non-crossovers pathways. Also required for development of higher-order chromosome structures and is needed for synaptonemal-complex formation. In males, required for efficient synapsis of the sex chromosomes and for sex body formation. Promotes early steps of the DNA double-strand breaks (DSBs) repair process upstream of the assembly of RAD51 complexes. Required for depletion of HORMAD1 and HORMAD2 from synapsed chromosomes (By similarity). Plays a role in mitotic spindle assembly checkpoint (SAC) activation (PubMed:28553959)

Diseases associated with TRIP13

Curated MONDO disease pages that list TRIP13 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.