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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TRIP11
thyroid hormone receptor interactor 11
Chromosome 14 Β· 14q32.12
NCBI Gene: 9321Ensembl: ENSG00000100815.13HGNC: HGNC:12305UniProt: Q15643
102PubMed Papers
22Diseases
0Drugs
87Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingcartilage developmentGolgi ribbon formationendoplasmic reticulum-Golgi intermediate compartmentAchondrogenesis type 1Aodontochondrodysplasia 1achondrogenesis type IAcancer
✦AI Summary

TRIP11 encodes Golgi microtubule-associated protein 210 (GMAP-210), which serves as an essential membrane tether required for vesicle tethering to the Golgi apparatus and maintenance of Golgi structure and function 1. The protein is critical for efficient anterograde and retrograde trafficking in the early secretory pathway, functioning at both the ER-to-Golgi intermediate compartment and Golgi complex 1. TRIP11 also functions as a transcriptional coactivator, binding the thyroid hormone receptor beta (THRB) in the presence of triiodothyronine and enhancing THRB-mediated transcription through a PI3K-dependent mechanism 2. The protein physically interacts with intraflagellar transport 20 (IFT20), linking Golgi function to ciliary trafficking and ciliogenesis 13. Loss-of-function mutations in TRIP11 cause achondrogenesis type 1A (ACG1A), a lethal skeletal dysplasia characterized by complete disruption of Golgi function, impaired extracellular matrix proteoglycan secretion, and defective chondrocyte maturation 13. Hypomorphic mutations result in the milder odontochondrodysplasia (ODCD), where residual GMAP-210 function maintains partial Golgi integrity but still produces skeletal abnormalities and dentinogenesis imperfecta 14. These disorders demonstrate a genotype-phenotype correlation based on the severity of TRIP11 dysfunction 4.

Sources cited
1
TRIP11 encodes GMAP-210, essential for Golgi structure and vesicle tethering, and interacts with IFT20 for ciliary function
PMID: 30728324
2
TRIP11 functions as transcriptional coactivator for thyroid hormone receptor via PI3K-dependent mechanism
PMID: 29022645
3
Loss of TRIP11 impairs Golgi structure and reduces ciliary frequency and length in patient cells
PMID: 34057271
4
TRIP11 variants cause a spectrum from mild ODCD to lethal ACG1A with genotype-phenotype correlation
PMID: 31903676
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜22
Achondrogenesis type 1AOpen Targets
0.79Strong
odontochondrodysplasia 1Open Targets
0.76Strong
achondrogenesis type IAOpen Targets
0.68Moderate
cancerOpen Targets
0.58Moderate
connective tissue diseaseOpen Targets
0.46Moderate
TRIP11-related skeletal dysplasiaOpen Targets
0.44Moderate
genetic disorderOpen Targets
0.42Moderate
achondrogenesisOpen Targets
0.41Moderate
odontochondrodysplasiaOpen Targets
0.37Weak
osteochondrodysplasiaOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.26Weak
coronary atherosclerosisOpen Targets
0.22Weak
Abnormality of the skeletal systemOpen Targets
0.20Weak
lymphoid neoplasmOpen Targets
0.19Weak
acute myeloid leukemiaOpen Targets
0.19Weak
neoplasmOpen Targets
0.19Weak
chronic lymphocytic leukemiaOpen Targets
0.19Weak
lung adenocarcinomaOpen Targets
0.19Weak
oral squamous cell carcinomaOpen Targets
0.19Weak
brain glioblastomaOpen Targets
0.18Weak
Achondrogenesis 1AUniProt
Odontochondrodysplasia 1UniProt
Pathogenic Variants87
NM_004239.4(TRIP11):c.790C>T (p.Arg264Ter)Pathogenic
Achondrogenesis, type IA|Odontochondrodysplasia 1
β˜…β˜…β˜†β˜†2025β†’ Residue 264
NM_004239.4(TRIP11):c.3082C>T (p.Arg1028Ter)Pathogenic
Achondrogenesis, type IA
β˜…β˜…β˜†β˜†2025β†’ Residue 1028
NM_004239.4(TRIP11):c.2467_2470del (p.Arg823fs)Pathogenic
not provided|Achondrogenesis, type IA|Odontochondrodysplasia 1;Achondrogenesis, type IA
β˜…β˜…β˜†β˜†2025β†’ Residue 823
NM_004239.4(TRIP11):c.1938_1941del (p.Arg647fs)Pathogenic
Achondrogenesis, type IA|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 647
NM_004239.4(TRIP11):c.3671G>A (p.Trp1224Ter)Pathogenic
Achondrogenesis, type IA|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 1224
NM_004239.4(TRIP11):c.2611C>T (p.Arg871Ter)Pathogenic
Achondrogenesis, type IA
β˜…β˜…β˜†β˜†2021β†’ Residue 871
NM_004239.4(TRIP11):c.3962T>A (p.Leu1321Ter)Likely pathogenic
Achondrogenesis, type IA|not provided
β˜…β˜…β˜†β˜†2020β†’ Residue 1321
NM_004239.4(TRIP11):c.533C>G (p.Ser178Ter)Pathogenic
Achondrogenesis, type IA
β˜…β˜†β˜†β˜†2026β†’ Residue 178
NM_004239.4(TRIP11):c.2911del (p.Thr971fs)Pathogenic
Achondrogenesis, type IA
β˜…β˜†β˜†β˜†2025β†’ Residue 971
NM_004239.4(TRIP11):c.3507del (p.Asp1170fs)Pathogenic
Achondrogenesis, type IA
β˜…β˜†β˜†β˜†2025β†’ Residue 1170
NM_004239.4(TRIP11):c.588+1G>ALikely pathogenic
Achondrogenesis, type IA
β˜…β˜†β˜†β˜†2025
NM_004239.4(TRIP11):c.2557C>T (p.Arg853Ter)Pathogenic
Achondrogenesis, type IA
β˜…β˜†β˜†β˜†2025β†’ Residue 853
NM_004239.4(TRIP11):c.5160+1G>TLikely pathogenic
Odontochondrodysplasia 1
β˜…β˜†β˜†β˜†2025
NM_004239.4(TRIP11):c.774_777del (p.Ser259fs)Pathogenic
Achondrogenesis, type IA
β˜…β˜†β˜†β˜†2025β†’ Residue 259
NM_004239.4(TRIP11):c.4432_4433del (p.Glu1478fs)Pathogenic
Achondrogenesis, type IA
β˜…β˜†β˜†β˜†2025β†’ Residue 1478
NM_004239.4(TRIP11):c.1186+1G>ALikely pathogenic
Achondrogenesis, type IA
β˜…β˜†β˜†β˜†2025
NM_004239.4(TRIP11):c.5272C>T (p.Gln1758Ter)Likely pathogenic
Achondrogenesis, type IA
β˜…β˜†β˜†β˜†2025β†’ Residue 1758
NM_004239.4(TRIP11):c.81dup (p.Gly28fs)Pathogenic
Achondrogenesis, type IA
β˜…β˜†β˜†β˜†2025β†’ Residue 28
NM_004239.4(TRIP11):c.2077_2080del (p.Leu693fs)Pathogenic
Achondrogenesis, type IA
β˜…β˜†β˜†β˜†2025β†’ Residue 693
NM_004239.4(TRIP11):c.985del (p.Arg329fs)Pathogenic
Achondrogenesis, type IA
β˜…β˜†β˜†β˜†2025β†’ Residue 329
View on ClinVar β†—
Related Genes
IFT20Protein interaction100%ARF1Protein interaction96%ARNTProtein interaction88%GOLGB1Protein interaction82%GOLGA5Protein interaction82%SLC26A2Protein interaction81%
Tissue Expression6 tissues
Heart
100%
Ovary
66%
Liver
59%
Lung
53%
Bone Marrow
35%
Brain
33%
Gene Interaction Network
Click a node to explore
TRIP11IFT20ARF1ARNTGOLGB1GOLGA5SLC26A2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q15643
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.73LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.64 [0.55–0.73]
RankingsWhere TRIP11 stands among ~20K protein-coding genes
  • #4,698of 20,598
    Most Researched102 Β· top quartile
  • #863of 5,498
    Most Pathogenic Variants87 Β· top quartile
  • #5,688of 17,882
    Most Constrained (LOEUF)0.73
Genes detectedTRIP11
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A
PMID: 36627146
Cold Spring Harb Mol Case Stud Β· 2023
1.00
2
The significance of TRIP11 and T3 signalling pathway in renal cancer progression and survival of patients.
PMID: 29022645
Endokrynol Pol Β· 2017
0.90
3
Disruption of Trip11 in cranial neural crest cells is associated with increased ER and Golgi stress contributing to skull defects in mice.
PMID: 35147267
Dev Dyn Β· 2022
0.80
4
Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A.
PMID: 31903676
Am J Med Genet A Β· 2020
0.70
5
Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia.
PMID: 39706863
Eur J Hum Genet Β· 2025
0.60