TRIP13

Chr 5AR

thyroid hormone receptor interactor 13

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

NCBI Gene: 9319ENSG00000071539UniProt: Q15645

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]

Primary Disease Associations & Inheritance

Mosaic variegated aneuploidy syndrome 3MIM #617598
AR
Oocyte/zygote/embryo maturation arrest 9MIM #619011
AR
0
ClinVar variants
0
Pathogenic / LP
1.00
pLI score· haploinsufficient
0
Active trials
Clinical Summary— TRIP13
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
Some data sources returned errors (1)

clinvar: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.25LOEUF
pLI 0.996
Z-score 4.28
OE 0.08 (0.03–0.25)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
2.32Z-score
OE missense 0.58 (0.51–0.67)
141 obs / 242.5 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.08 (0.03–0.25)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.58 (0.51–0.67)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.11
0≤1.21.6
LoF obs/exp: 2 / 25.2Missense obs/exp: 141 / 242.5Syn Z: -0.91

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TRIP13 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Gene2Phenotype Curations

TRIP13-related mosaic variegated aneuploidy and Wilms tumour

strong
ARLoss Of FunctionAbsent Gene Product
Dev. Disorders
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Mosaic variegated aneuploidy syndrome 3

MIM #617598

Molecular basis of disorder known

Autosomal recessive

Oocyte/zygote/embryo maturation arrest 9

MIM #619011

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Genetic factors as potential molecular markers of human oocyte and embryo quality.
Sang Q et al.·J Assist Reprod Genet
2021Review
Tetrahydrocurcumin targets TRIP13 inhibiting the interaction of TRIP13/USP7/c-FLIP to mediate c-FLIP ubiquitination in triple-negative breast cancer.
Sun YJ et al.·J Adv Res
2025
TRIP13 regulates progression of gastric cancer through stabilising the expression of DDX21.
Zhang G et al.·Cell Death Dis
2024
Disassembly of the Shieldin Complex by TRIP13.
Sarangi P et al.·Cell Cycle
2020Review
TRIP13-induced NUSAP1 upregulation promotes CcRCC progression through EMT and PI3K/AKT/mTOR pathway.
Chen X et al.·J Transl Med
2025
TRIP13 alters mitochondrial function and promotes bortezomib resistance in multiple myeloma.
Chen Y et al.·Sci Rep
2025
Advancing the development of TRIP13 inhibitors: A high-throughput screening approach.
Sammons RM et al.·SLAS Discov
2025
Repeated ionizing radiation exposure induces TRIP13 expression, conferring radioresistance in lung cancer cells.
Liu W et al.·Sci Rep
2025
Pan-cancer analysis shows that TRIP13 as a potential prognostic and immunotherapeutic biomarker for multiple cancer types including LIHC and LUAD.
Li C et al.·Medicine (Baltimore)
2025
Novel mutations in TRIP13 lead to female infertility with oocyte maturation arrest.
Lv XJ et al.·Yi Chuan
2023
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools