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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RHOT2
ras homolog family member T2
Chromosome 16 · 16p13.3
NCBI Gene: 89941Ensembl: ENSG00000140983.15HGNC: HGNC:21169UniProt: A0A8V8TM48
106PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrial outer membrane permeabilizationmitochondrial outer membranemitochondrionprotein bindingAlzheimer diseaseParkinson diseaseneurodegenerative diseaselysosomal storage disease
✦AI Summary

RHOT2 is an atypical mitochondrial nucleoside-triphosphatase (NTPase) that functions as a GTPase capable of hydrolyzing GTP, ATP, and UTP 1. Its primary role involves controlling anterograde mitochondrial transport and subcellular distribution along microtubules 2. Mechanistically, RHOT2 functions alongside DRP1 in mitochondrial-derived vesicle (MDV) biogenesis, where MIRO1/2-dependent membrane protrusions are formed and subsequently cleaved by DRP1 to generate MDVs enriched in phosphatidic acid 3. These MDVs deliver fully assembled protein complexes, including outer membrane β-barrel proteins and the TOM import machinery, to lysosomes for selective mitochondrial quality control 3. In neurons, RHOT2 dysfunction impairs mitophagy and triggers integrated stress response activation 4. Disease relevance includes Parkinson's disease, where RHOT2 variants were identified among 26 candidate genes in late-onset familial PD with disrupting mutations associated with increased disease risk 5, though large-scale consortium studies did not confirm RHOT2 as a disease-modifying locus 6. RHOT2 methylation patterns correlate with aging and appear as a potential biomarker for biological age decline 7. Clinically, RHOT2 silencing enhances colorectal cancer cell migration and invasion 8, and RHOT2 protein abundance associates with smoking initiation susceptibility 9.

Sources cited
1
RHOT2 can hydrolyze ATP and UTP; atypical mitochondrial NTPase
PMID: 30513825
2
RHOT2 involved in control of anterograde transport and subcellular distribution of mitochondria
PMID: 22396657
3
MIRO1/2-dependent MDV biogenesis with DRP1-dependent scission and selective delivery of protein complexes to lysosomes
PMID: 34873283
4
Miro dysfunction disrupts mitophagy and induces integrated stress response hyperactivation
PMID: 34152608
5
RHOT2 identified as candidate gene with disrupting variants in late-onset Parkinson's disease families
PMID: 34148545
6
Large-scale consortium analysis did not support RHOT1/RHOT2 as disease-causing genes for PD
PMID: 32948353
7
RHOT2 CpG methylation replicates as aging biomarker associated with chronological and biological age
PMID: 30787202
8
RHOT2 silencing enhances colorectal cancer cell migration and invasion
PMID: 37158593
9
RHOT2 protein abundance associated with smoking initiation susceptibility
PMID: 35941285
Disease Associationsⓘ20
Alzheimer diseaseOpen Targets
0.22Weak
Parkinson diseaseOpen Targets
0.21Weak
neurodegenerative diseaseOpen Targets
0.20Weak
lysosomal storage diseaseOpen Targets
0.20Weak
multiple sclerosisOpen Targets
0.20Weak
smoking initiationOpen Targets
0.17Weak
insomniaOpen Targets
0.12Weak
attention deficit hyperactivity disorderOpen Targets
0.09Suggestive
substance abuseOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
prostate cancerOpen Targets
0.08Suggestive
cancerOpen Targets
0.05Suggestive
heart failureOpen Targets
0.03Suggestive
colorectal carcinomaOpen Targets
0.03Suggestive
smoking behaviorOpen Targets
0.03Suggestive
risk-taking behaviourOpen Targets
0.02Suggestive
posterior cortical atrophyOpen Targets
0.02Suggestive
dementiaOpen Targets
0.01Suggestive
metastatic neoplasmOpen Targets
0.01Suggestive
bladder transitional cell carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TRAK1Protein interaction100%TRAK2Protein interaction99%PRKNProtein interaction98%MFN2Protein interaction98%PINK1Protein interaction97%MFN1Protein interaction96%
Tissue Expression6 tissues
Liver
100%
Ovary
95%
Lung
94%
Bone Marrow
87%
Heart
54%
Brain
22%
Gene Interaction Network
Click a node to explore
RHOT2TRAK1TRAK2PRKNMFN2PINK1MFN1
PROTEIN STRUCTURE
Preparing viewer…
PDB5KUT · 1.69 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.33LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.11 [0.94–1.33]
RankingsWhere RHOT2 stands among ~20K protein-coding genes
  • #4,500of 20,598
    Most Researched106 · top quartile
  • #13,914of 17,882
    Most Constrained (LOEUF)1.33
Genes detectedRHOT2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
MIROs and DRP1 drive mitochondrial-derived vesicle biogenesis and promote quality control.
PMID: 34873283
Nat Cell Biol · 2021
1.00
2
Mis-splicing-derived neoantigens and cognate TCRs in splicing factor mutant leukemias.
PMID: 40273911
Cell · 2025
0.90
3
Identification of sixteen novel candidate genes for late onset Parkinson's disease.
PMID: 34148545
Mol Neurodegener · 2021
0.80
4
Loss of neuronal Miro1 disrupts mitophagy and induces hyperactivation of the integrated stress response.
PMID: 34152608
EMBO J · 2021
0.70
5
The role of RHOT1 and RHOT2 genetic variation on Parkinson disease risk and onset.
PMID: 32948353
Neurobiol Aging · 2021
0.60