TRIP13

Chr 5AR

thyroid hormone receptor interactor 13

Also known as: 16E1BP, MVA3, OOMD9, OZEMA9

NCBI Gene: 9319 ENSG00000071539 UniProt: Q15645 OMIM: 604507

TRIP13 encodes a protein essential for chromosome recombination, synaptonemal complex formation during meiosis, and mitotic spindle assembly checkpoint activation. Mutations cause mosaic variegated aneuploidy syndrome and oocyte/zygote/embryo maturation arrest with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.25), reflecting its critical role in chromosome stability and reproductive function.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein that interacts with thyroid hormone receptors, also known as hormone-dependent transcription factors. The gene product interacts specifically with the ligand binding domain. This gene is one of several that may play a role in early-stage non-small cell lung cancer. [provided by RefSeq, Oct 2009]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Mosaic variegated aneuploidy syndrome 3MIM #617598

Oocyte/zygote/embryo maturation arrest 9MIM #619011

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.25

LOEUF· LoF intol.

LOF

Mechanism· G2P

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GeneReview available — TRIP13