TRIOBP: TRIO and F-Actin Binding Protein
Key regulator of actin cytoskeleton organization and auditory hair cell stereocilia integrity
Gene Information Card
| Symbol | TRIOBP |
|---|---|
| Full Name | TRIO and F-Actin Binding Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 11078 ncbi.nlm.nih.gov/gene/11078 |
| Ensembl ID | ENSG00000100106 |
| UniProt ID | Q9H2D6 |
| OMIM ID | 609761 |
| HGNC ID | 16279 |
| Aliases | TRIOBP-1, TAP68, KIAA1662, DFNB28 |
Description
TRIOBP encodes a protein that binds to TRIO and F-actin, playing a critical role in actin cytoskeleton organization. It is essential for the formation and maintenance of stereocilia in auditory hair cells. Mutations in TRIOBP cause autosomal recessive nonsyndromic hearing loss (DFNB28). The gene produces multiple isoforms through alternative splicing, with tissue-specific expression patterns.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive nonsyndromic hearing loss 28 (DFNB28) | Loss-of-function mutations in TRIOBP disrupt actin bundling in hair cell stereocilia, leading to progressive hearing loss. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.7 | Low |
| Cochlea | 15.2 | High |
| Lung | 5.1 | Low |
| Kidney | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Moderate expression |
| HeLa | 7.2 | Low expression |
| SH-SY5Y | 11.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3076C>T (p.Arg1026Ter) | Nonsense | Rare | Premature stop, loss of function |
| c.1336delG (p.Ala446ProfsTer21) | Frameshift | Rare | Loss of function |
| c.2089G>A (p.Gly697Arg) | Missense | Rare | Likely damaging, reduced actin binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein and loss of actin-binding function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • protein binding (GO:0005515) |
| • actin cytoskeleton organization (GO:0030036) | • cytoplasm (GO:0005737) |
| • cytoskeleton (GO:0005856) |
Pathways
• Actin cytoskeleton regulation
• Stereocilia development and maintenance
Protein Summary
The TRIOBP protein (UniProt Q9H2D6) is a 68 kDa actin-binding protein that interacts with TRIO and F-actin. It is involved in the organization of the actin cytoskeleton, particularly in the stereocilia of inner ear hair cells. Multiple isoforms exist due to alternative splicing, with isoform 1 being the longest. The protein contains coiled-coil domains and localizes to the cytoplasm and cytoskeleton.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRIOBP Knockout HEK293 Cell Line | EDJ-KQ7274 | Human | 11078 | Details Get a Quote |
| TRIOBP Knockout A-549 Cell Line | EDJ-KQ32296 | Human | 11078 | Details Get a Quote |
| TRIOBP Knockout HCT 116 Cell Line | EDJ-KQ32297 | Human | 11078 | Details Get a Quote |
| TRIOBP Knockout HeLa Cell Line | EDJ-KQ32298 | Human | 11078 | Details Get a Quote |
