RHOV
protein-codingras homolog family member V, the group of Rho family GTPases
Gene summary
Predicted to enable GTP binding activity; GTPase activity; and protein kinase binding activity. Predicted to be involved in several processes, including actin filament organization; endocytosis; and establishment of cell polarity. Predicted to be located in endosome membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
- ARHV
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~2.0 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 RHOV variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_133639.4. 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 | 0 | |||||
| missense | 22 | 2 | 24 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 23 | 2 | 0 | 25 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_598378.3 | 3 | MANE Select | |
| Ensembl | ENSP00000220507.4 | 3 | MANE Select | |
| Ensembl | ENSP00000535378.1 | 3 | Standard | |
| Ensembl | ENSP00000535378.1 | 3 | Standard |
Model Organisms & Knockout Phenotypes
Observed phenotypic effects in mouse and zebrafish models
| Gene / Model | Organism | Observed Phenotype |
|---|---|---|
| rhov | Danio rerio | Structure: DEL Quality: position abnormal |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Signal Transduction
- Rho GTPase cycle
- Signaling by Rho GTPases
Biological Process
- endocytosis
- actin filament organization
- establishment or maintenance of cell polarity
- Rho protein signal transduction
- regulation of cell shape
Molecular Function
- GTPase activity
- protein binding
- GTP binding
- protein kinase binding
- metal ion binding
Cellular Component
- cytoplasm
- cytosol
- plasma membrane
- cell cortex
- endosome membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000220507
- Coding exons
- 3
- Length
- 2076
- Individuals with no LoFs
- 125739
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 7
- Defined
- 125746
- p
- 0.0000278
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.95 | 75 | 140 | 0.536 | 0.00000834 | 1490 |
| Missense (PolyPhen) | 19 | 48.243 | 0.39384 | 549 | ||
| Synonymous | 0.863 | 56 | 64.8 | 0.864 | 0.00000404 | 512 |
| Loss of Function | 2.49 | 1 | 9.08 | 0.110 | 5.27e-7 | 89 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.000062 | 0.000062 | rare |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000053 | 0.000053 | rare |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Plays a role in the control of the actin cytoskeleton via activation of the JNK pathway. {ECO:0000250|UniProtKB:Q9Z1Y0}.;
Recessive Scores
- pRec
- 0.157
Intolerance Scores
- LoFtool
- 0.390
- RVIS EVS
- 0.01
- RVIS percentile EVS
- 54.63
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.286
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Low | Medium |
| Primary Immunodeficiency | Medium | Low | Medium |
| Cancer | Medium | Medium | Medium |