TRIP10
protein-codingthyroid hormone receptor interactor 10, the group of F-BAR domain containing |Minor histocompatibility antigens
Gene summary
Enables identical protein binding activity. Predicted to be involved in actin cytoskeleton organization and signal transduction. Located in extracellular exosome. Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Jun 2026]
- STOT
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~13.6 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to TRIP10 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001288962.2. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 102 | 2 | 104 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 5 | 5 | ||||
| Total | 0 | 0 | 109 | 2 | 0 | 111 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001275891.1 | 15 | MANE Select | |
| Ensembl | ENSP00000320117.7 | 15 | MANE Select | |
| RefSeq | NP_001275892.1 | 14 | Standard | |
| RefSeq | NP_004231.1 | 14 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Insulin signaling pathway - Homo sapiens (human)
- Angiopoietin Like Protein 8 Regulatory Pathway
- Signal Transduction
- Vesicle-mediated transport
- Membrane Trafficking
Biological Process
- endocytosis
- cell communication
- signal transduction
- actin cytoskeleton organization
- positive regulation of GTPase activity
Molecular Function
- GTPase activator activity
- protein binding
- lipid binding
- identical protein binding
Cellular Component
- phagocytic cup
- nucleoplasm
- cytoplasm
- lysosome
- Golgi apparatus
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000313285
- Coding exons
- 14
- Length
- 13602
- Individuals with no LoFs
- 125724
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 24
- Defined
- 125748
- p
- 0.0000954
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.563 | 321 | 351 | 0.915 | 0.0000221 | 3604 |
| Missense (PolyPhen) | 120 | 135.06 | 0.88848 | 1336 | ||
| Synonymous | -0.406 | 138 | 132 | 1.04 | 0.00000819 | 1009 |
| Loss of Function | 3.16 | 14 | 33.9 | 0.413 | 0.00000181 | 358 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.000062 | 0.000062 | rare |
| Latino/Admixed American | 0.000058 | 0.000058 | rare |
| Ashkenazi Jewish | 0.000099 | 0.000099 | rare |
| East Asian | 0.000054 | 0.000054 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00012 | 0.00012 | rare |
| South Asian | 0.00013 | 0.00013 | rare |
| Other | 0.00016 | 0.00016 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Required for translocation of GLUT4 to the plasma membrane in response to insulin signaling (By similarity). Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during endocytosis. Binds to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promotes membrane invagination and the formation of tubules. Also promotes CDC42-induced actin polymerization by recruiting WASL/N- WASP which in turn activates the Arp2/3 complex. Actin polymerization may promote the fission of membrane tubules to form endocytic vesicles. Required for the formation of podosomes, actin-rich adhesion structures specific to monocyte-derived cells. May be required for the lysosomal retention of FASLG/FASL. {ECO:0000250, ECO:0000269|PubMed:11069762, ECO:0000269|PubMed:16318909, ECO:0000269|PubMed:16326391}.;
Recessive Scores
- pRec
- 0.190
Intolerance Scores
- LoFtool
- 0.517
- RVIS EVS
- -0.86
- RVIS percentile EVS
- 10.85
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.992
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |