TRIP11

Chr 14AR

thyroid hormone receptor interactor 11

Also known as: ACG1A, CEV14, GMAP-210, GMAP210, ODCD, ODCD1, TRIP-11, TRIP230

NCBI Gene: 9321ENSG00000100815UniProt: Q15643

This gene was identified based on the interaction of its protein product with thyroid hormone receptor beta. This protein is associated with the Golgi apparatus. The N-terminal region of the protein binds Golgi membranes and the C-terminal region binds the minus ends of microtubules; thus, the protein is thought to play a role in assembly and maintenance of the Golgi ribbon structure around the centrosome. Mutations in this gene cause achondrogenesis type IA.[provided by RefSeq, Mar 2010]

Primary Disease Associations & Inheritance

Achondrogenesis, type IAMIM #200600
AR
Odontochondrodysplasia 1MIM #184260
AR
UniProtAchondrogenesis 1A
0
Active trials
7
Pathogenic / LP
76
ClinVar variants
3
Pubs (1 yr)
0.5
Missense Z
0.50
LOEUF
Clinical Summary— TRIP11
🧬
Gene-Disease Validity (ClinGen)
TRIP11-related skeletal dysplasia · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
7 Pathogenic / Likely Pathogenic· 46 VUS of 76 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.50LOEUF
pLI 0.000
Z-score 5.72
OE 0.39 (0.30–0.50)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
0.52Z-score
OE missense 0.95 (0.90–1.01)
903 obs / 947.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.39 (0.30–0.50)
0≤0.351.4
Missense OE0.95 (0.90–1.01)
0≤0.61.4
Synonymous OE1.06
0≤1.21.6
LoF obs/exp: 39 / 101.1Missense obs/exp: 903 / 947.7Syn Z: -0.89
DN
DN
0.7033th %ile
GOF
0.4283th %ile
LOF
0.3162th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

76 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic4
Likely Pathogenic3
VUS46
Likely Benign20
Benign2
Conflicting1
4
Pathogenic
3
Likely Pathogenic
46
VUS
20
Likely Benign
2
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
3
0
1
0
4
Likely Pathogenic
3
0
0
0
3
VUS
0
42
3
1
46
Likely Benign
0
1
7
12
20
Benign
0
0
1
1
2
Conflicting
—1
Total643121476

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

TRIP11 · protein map & ClinVar variants

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

Gene2Phenotype Curations

TRIP11-related achondrogenesis

definitive
ARLoss Of FunctionAbsent Gene Product
Dev. DisordersSkeletal
G2P ↗

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 4 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
A TRIP11:: FLT3 gene fusion in a patient with myeloid/lymphoid neoplasm with eosinophilia and tyrosine kinase gene fusions: a case report and review of the literature.
Venable ER et al.·Cold Spring Harb Mol Case Stud
2023Review
Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A.
Upadhyai P et al.·Hum Mutat
2021
Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia.
Jacob P et al.·Eur J Hum Genet
2025
Deciphering the phenotypic spectrum associated with MIA3-related odontochondrodysplasia.
Abdel-Hamid MS et al.·J Hum Genet
2025
Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants.
Del Pino M et al.·Eur J Med Genet
2021Case report
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients