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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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TRIOBP
TRIO and F-actin binding protein
Chromosome 22 Β· 22q13.1
NCBI Gene: 11078Ensembl: ENSG00000100106.22HGNC: HGNC:17009UniProt: Q9H2D6
96PubMed Papers
21Diseases
0Drugs
100Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of substrate adhesion-dependent cell spreadingubiquitin protein ligase bindingactin filament bindingactin cytoskeletonhearing loss, autosomal recessivedeafnesshearing lossRare genetic deafness
✦AI Summary

TRIOBP (TRIO and F-actin binding protein) encodes multiple protein isoforms that play crucial roles in actin cytoskeleton organization and stabilization. The gene produces distinct isoforms with specialized functions: TRIOBP-1 is a ubiquitously expressed protein that binds F-actin and prevents its depolymerization, important for cell cycle regulation, adhesion junctions, and neuronal differentiation 1. TRIOBP-4 is highly specialized for inner ear function, bundling actin in stereocilia and being essential for hearing 1. TRIOBP-5 localizes to stereocilia rootlets where it bundles rootlet F-actin and works with ANKRD24 to anchor stereocilia into the cuticular plate 2. The protein interacts with cardiac hERG channels, regulating surface expression and affecting cardiac excitability 3. TRIOBP mutations cause autosomal recessive nonsyndromic hearing loss (DFNB28) through disruption of stereocilia structure 1. Beyond hearing disorders, TRIOBP variants are associated with schizophrenia through protein aggregate formation, various cancers, pulmonary fibrosis where it promotes fibroblast-to-myofibroblast transition 4, and potentially primary open-angle glaucoma and kidney stone disease 56. The protein's diverse isoforms enable tissue-specific functions while maintaining core actin-regulatory capabilities.

Sources cited
1
TRIOBP encodes multiple isoforms with distinct roles - TRIOBP-1 for general actin stabilization and TRIOBP-4 for stereocilia bundling, with mutations causing hearing loss
PMID: 33121024
2
TRIOBP-5 bundles rootlet F-actin and works with ANKRD24 to anchor stereocilia, with knockout mice showing progressive hearing loss
PMID: 35175278
3
TRIOBP-1 interacts with cardiac hERG channels, affecting surface expression and cardiac excitability
PMID: 29507111
4
TRIOBP promotes fibroblast-to-myofibroblast transition in pulmonary fibrosis through miR-23a regulation
PMID: 40419807
5
TRIOBP is associated with primary open-angle glaucoma through cross-tissue transcriptome analysis
PMID: 40459497
6
TRIOBP is identified as a novel locus associated with kidney stone disease susceptibility
PMID: 40216741
Disease Associationsβ“˜21
hearing loss, autosomal recessiveOpen Targets
0.75Strong
deafnessOpen Targets
0.58Moderate
hearing lossOpen Targets
0.53Moderate
Rare genetic deafnessOpen Targets
0.47Moderate
autosomal dominant nonsyndromic hearing lossOpen Targets
0.44Moderate
nonsyndromic genetic hearing lossOpen Targets
0.43Moderate
Hearing impairmentOpen Targets
0.33Weak
Alzheimer diseaseOpen Targets
0.28Weak
neurodegenerative diseaseOpen Targets
0.28Weak
lysosomal storage diseaseOpen Targets
0.28Weak
multiple sclerosisOpen Targets
0.28Weak
Parkinson diseaseOpen Targets
0.28Weak
age-related hearing impairmentOpen Targets
0.26Weak
Sensorineural hearing impairmentOpen Targets
0.24Weak
glaucomaOpen Targets
0.22Weak
osteoarthritis, hipOpen Targets
0.22Weak
open-angle glaucomaOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
sensorineural hearing lossOpen Targets
0.18Weak
disorder of earOpen Targets
0.18Weak
Deafness, autosomal recessive, 28UniProt
Pathogenic Variants100
NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 28|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 1025
NM_001039141.3(TRIOBP):c.3295C>T (p.Gln1099Ter)Pathogenic
not provided|Hearing loss, autosomal recessive
β˜…β˜…β˜†β˜†2025β†’ Residue 1099
NM_001039141.3(TRIOBP):c.1039C>T (p.Arg347Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 28|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 347
NM_001039141.3(TRIOBP):c.2758C>T (p.Arg920Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 28
β˜…β˜…β˜†β˜†2025β†’ Residue 920
NM_001039141.3(TRIOBP):c.2320C>T (p.Arg774Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 28|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 774
NM_001039141.3(TRIOBP):c.3349C>T (p.Arg1117Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 28|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1117
NM_001039141.3(TRIOBP):c.1342C>T (p.Arg448Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 28
β˜…β˜…β˜†β˜†2025β†’ Residue 448
NM_001039141.3(TRIOBP):c.1933C>T (p.Gln645Ter)Pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 28
β˜…β˜…β˜†β˜†2025β†’ Residue 645
NM_001039141.3(TRIOBP):c.2609_2619del (p.Gln870fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 870
NM_001039141.3(TRIOBP):c.4436dup (p.Thr1480fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1480
NM_001039141.3(TRIOBP):c.163C>T (p.Arg55Ter)Likely pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 28
β˜…β˜…β˜†β˜†2024β†’ Residue 55
NM_001039141.3(TRIOBP):c.2176C>T (p.Arg726Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 28
β˜…β˜…β˜†β˜†2024β†’ Residue 726
NM_001039141.3(TRIOBP):c.138_153del (p.Glu47fs)Pathogenic
Rare genetic deafness|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 47
NM_001039141.3(TRIOBP):c.1783C>T (p.Arg595Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 28|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 595
NM_001039141.3(TRIOBP):c.5184+1G>APathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 28
β˜…β˜…β˜†β˜†2024
NM_001039141.3(TRIOBP):c.3232dup (p.Arg1078fs)Pathogenic
Autosomal recessive nonsyndromic hearing loss 28|Rare genetic deafness|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 1078
NM_001039141.3(TRIOBP):c.5488-2A>GLikely pathogenic
not provided
β˜…β˜…β˜†β˜†2024
NM_001039141.3(TRIOBP):c.3460_3461del (p.Leu1154fs)Pathogenic
Hearing loss, autosomal recessive|Autosomal recessive nonsyndromic hearing loss 28|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 1154
NM_001039141.3(TRIOBP):c.3214dup (p.Arg1072fs)Pathogenic
Autosomal recessive nonsyndromic hearing loss 28|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 1072
NM_001039141.3(TRIOBP):c.4320_4321del (p.His1440fs)Pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 28
β˜…β˜…β˜†β˜†2023β†’ Residue 1440
View on ClinVar β†—
Related Genes
MYO15AProtein interaction100%MYO3AProtein interaction94%XIRP2Protein interaction89%TPRNProtein interaction86%SPTAN1Protein interaction85%SPTBN1Protein interaction85%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
48%
Lung
38%
Ovary
33%
Liver
14%
Brain
6%
Gene Interaction Network
Click a node to explore
TRIOBPMYO15AMYO3AXIRP2TPRNSPTAN1SPTBN1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9H2D6
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.86LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.76 [0.67–0.86]
RankingsWhere TRIOBP stands among ~20K protein-coding genes
  • #5,008of 20,598
    Most Researched96 Β· top quartile
  • #776of 5,498
    Most Pathogenic Variants100 Β· top quartile
  • #7,593of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedTRIOBP
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The TRIOBP Isoforms and Their Distinct Roles in Actin Stabilization, Deafness, Mental Illness, and Cancer.
PMID: 33121024
Molecules Β· 2020
1.00
2
Trans-ancestry GWAS identifies 59 loci and improves risk prediction and fine-mapping for kidney stone disease.
PMID: 40216741
Nat Commun Β· 2025
0.90
3
Localization and functional consequences of a direct interaction between TRIOBP-1 and hERG proteins in the heart.
PMID: 29507111
J Cell Sci Β· 2018
0.80
4
Taperin bundles F-actin at stereocilia pivot points enabling optimal lifelong mechanosensitivity.
PMID: 40471101
J Cell Biol Β· 2025
0.70
5
LncRNA SYISL promotes fibroblast myofibroblast transition via miR-23a-mediated TRIOBP regulation.
PMID: 40419807
Cell Mol Life Sci Β· 2025
0.60