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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.
TRIP4
thyroid hormone receptor interactor 4
Chromosome 15 Β· 15q22.31
NCBI Gene: 9325Ensembl: ENSG00000103671.11HGNC: HGNC:12310UniProt: Q15650
77PubMed Papers
22Diseases
0Drugs
32Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
neuromuscular junctionprotease bindingtranscription coactivator activityprotein bindingspinal muscular atrophy with congenital bone fractures 1congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndromeprenatal-onset spinal muscular atrophy with congenital bone fracturescentronuclear myopathy
✦AI Summary

TRIP4 (thyroid hormone receptor interactor 4) functions as a transcriptional coactivator that associates with nuclear receptors, transcriptional coactivators, and basal transcription factors to facilitate nuclear receptor-mediated transcription 12. The protein contains an N-terminal C2HC5-like zinc-finger domain and a conserved C-terminal ASCH domain that binds DNA in a sequence-independent manner through positively charged surface patches 3. TRIP4 plays critical roles in thyroid hormone receptor, estrogen receptor, and androgen receptor transactivation, as well as in NF-kappa-B, SRF, and AP1 signaling pathways 124. The protein is also part of the ribosome quality control (RQC) pathway, participating in the degradation of nascent peptide chains during problematic translation 56. Pathogenic variants in TRIP4 cause congenital muscular dystrophy and spinal muscular atrophy with bone fractures, characterized by neonatal hypotonia, respiratory distress, and joint contractures 7. In cancer contexts, TRIP4 promotes tumor progression and resistance to therapy, including sorafenib resistance in hepatocellular carcinoma through the MED8-TRIP4 axis 8 and cervical cancer progression via GATA2 transcriptional activation 910. These diverse functions highlight TRIP4's importance in transcriptional regulation, protein quality control, and disease pathogenesis.

Sources cited
1
TRIP4 associates with nuclear receptors and transcriptional coactivators to facilitate transcription
PMID: 10454579
2
TRIP4 plays role in thyroid hormone and estrogen receptor transactivation
PMID: 25219498
3
TRIP4 involved in NF-kappa-B, SRF and AP1 transactivation
PMID: 12077347
4
TRIP4 ASCH domain binds DNA in sequence-independent manner through positively charged patches
PMID: 38870938
5
TRIP4 functions in ribosome quality control pathway
PMID: 32099016
6
TRIP4 part of RQC pathway degrading nascent peptide chains
PMID: 32579943
7
TRIP4 variants cause congenital muscular dystrophy with hypotonia and respiratory distress
PMID: 35276412
8
MED8-TRIP4 axis involved in sorafenib resistance in hepatocellular carcinoma
PMID: 41117311
9
TRIP4 transcriptionally activates GATA2 to promote cervical cancer progression
PMID: 40180167
10
TRIP4 promotes cervical cancer growth and regulates radiosensitivity
PMID: 30905820
Disease Associationsβ“˜22
spinal muscular atrophy with congenital bone fractures 1Open Targets
0.73Strong
congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndromeOpen Targets
0.68Moderate
prenatal-onset spinal muscular atrophy with congenital bone fracturesOpen Targets
0.61Moderate
centronuclear myopathyOpen Targets
0.43Moderate
pericarditisOpen Targets
0.32Weak
Myocardial IschemiaOpen Targets
0.28Weak
genetic disorderOpen Targets
0.19Weak
bronchiectasisOpen Targets
0.06Suggestive
severe malarial anemiaOpen Targets
0.05Suggestive
cervical cancerOpen Targets
0.05Suggestive
Alzheimer diseaseOpen Targets
0.04Suggestive
melanomaOpen Targets
0.03Suggestive
gliomaOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.02Suggestive
hyperuricemiaOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
atrial fibrillationOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
spinal muscular atrophyOpen Targets
0.01Suggestive
nasopharyngeal carcinomaOpen Targets
0.01Suggestive
Muscular dystrophy, congenital, Davignon-Chauveau typeUniProt
Spinal muscular atrophy with congenital bone fractures 1UniProt
Pathogenic Variants32
NM_016213.5(TRIP4):c.135dup (p.Arg46fs)Pathogenic
not provided|Spinal muscular atrophy with congenital bone fractures 1;Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 46
NM_016213.5(TRIP4):c.272-1G>TLikely pathogenic
TRIP4-related disorder|not provided|Gastric cancer|Cervical cancer
β˜…β˜…β˜†β˜†2024
NM_016213.5(TRIP4):c.180del (p.Gly61fs)Pathogenic
not provided|TRIP4-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 61
NM_016213.5(TRIP4):c.1396C>T (p.Arg466Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 466
NM_016213.5(TRIP4):c.925C>T (p.Arg309Ter)Pathogenic
not provided|Spinal muscular atrophy with congenital bone fractures 1
β˜…β˜…β˜†β˜†2024β†’ Residue 309
NM_016213.5(TRIP4):c.890G>A (p.Trp297Ter)Pathogenic
not provided|Spinal muscular atrophy with congenital bone fractures 1
β˜…β˜…β˜†β˜†2024β†’ Residue 297
NM_016213.5(TRIP4):c.336_339del (p.Gln113fs)Pathogenic
not provided|Spinal muscular atrophy with congenital bone fractures 1
β˜…β˜…β˜†β˜†2020β†’ Residue 113
NM_016213.5(TRIP4):c.779del (p.Glu260fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 260
NM_016213.5(TRIP4):c.1460_1463dup (p.Arg489fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 489
NM_016213.5(TRIP4):c.160C>T (p.Gln54Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 54
NM_016213.5(TRIP4):c.136C>T (p.Arg46Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 46
NM_016213.5(TRIP4):c.949C>T (p.Arg317Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 317
NM_016213.5(TRIP4):c.462_463del (p.Glu156fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 156
NM_016213.5(TRIP4):c.1199del (p.Gln400fs)Pathogenic
Centronuclear myopathy
β˜…β˜†β˜†β˜†2024β†’ Residue 400
NM_016213.5(TRIP4):c.55_56insCT (p.Gln19fs)Pathogenic
Centronuclear myopathy
β˜…β˜†β˜†β˜†2024β†’ Residue 19
NM_016213.5(TRIP4):c.472C>T (p.Gln158Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 158
NM_016213.5(TRIP4):c.831dup (p.Arg278fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 278
NM_016213.5(TRIP4):c.886C>T (p.Gln296Ter)Likely pathogenic
Spinal muscular atrophy with congenital bone fractures 1
β˜…β˜†β˜†β˜†2023β†’ Residue 296
NM_016213.5(TRIP4):c.827+1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_016213.5(TRIP4):c.59T>A (p.Leu20Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 20
View on ClinVar β†—
Related Genes
MED13Protein interaction100%MED12Protein interaction100%MED1Protein interaction99%RCOR1Protein interaction99%ASCC1Protein interaction99%MED17Protein interaction96%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
91%
Lung
84%
Ovary
77%
Liver
65%
Brain
63%
Gene Interaction Network
Click a node to explore
TRIP4MED13MED12MED1RCOR1ASCC1MED17
PROTEIN STRUCTURE
Preparing viewer…
PDB9KYK Β· 1.02 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.80LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.63 [0.50–0.80]
RankingsWhere TRIP4 stands among ~20K protein-coding genes
  • #6,222of 20,598
    Most Researched77
  • #1,756of 5,498
    Most Pathogenic Variants32
  • #6,680of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedTRIP4
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
1.00
2
Biochemical and structural characterization of the DNA-binding properties of human TRIP4 ASCH domain reveals insights into its functional role.
PMID: 38870938
Structure Β· 2024
0.90
3
A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy.
PMID: 34627702
Neuromuscul Disord Β· 2021
0.80
4
ASC1 complex related conditions: Two novel paediatric patients with TRIP4 pathogenic variants and review of literature.
PMID: 35276412
Eur J Med Genet Β· 2022
0.70
5
Targeting MED8 enhances sorafenib sensitivity in hepatocellular carcinoma by disrupting epithelial-mesenchymal transition mechanisms.
PMID: 41117311
J Enzyme Inhib Med Chem Β· 2025
0.60