RHOV Gene - Rho Family GTPase V
Comprehensive genomic and functional analysis of RHOV
Gene Information Card
| Symbol | RHOV |
|---|---|
| Full Name | Ras homolog family member V |
| Gene Type | protein-coding |
| Chromosomal Location | 15q13.3 |
| NCBI Gene ID | 171177 ncbi.nlm.nih.gov/gene/171177 |
| Ensembl ID | ENSG00000178878 |
| UniProt ID | Q96L33 |
| OMIM ID | 609495 |
| HGNC ID | 18733 |
| Aliases | ARHV, Chp, WRCH2 |
Description
RHOV (Ras homolog family member V) is a member of the Rho family of small GTPases, which regulate cytoskeletal dynamics, cell migration, and proliferation. It is involved in signal transduction pathways and has been implicated in cancer progression and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | RHOV overexpression or mutation may alter GTPase activity, affecting cell motility and invasion | COSMIC, literature |
| Developmental disorders | Potential role in neuronal development; limited evidence | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 10.2 | Medium |
| Kidney | 8.5 | Medium |
| Brain | 6.1 | Low |
| Heart | 4.3 | Low |
| Liver | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung cancer) | 12.5 | High expression |
| HEK293 (embryonic kidney) | 9.8 | Moderate expression |
| HeLa (cervical cancer) | 7.3 | Low expression |
| MCF7 (breast cancer) | 5.1 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123G>A | Missense | 0.02% | p.Trp41* (stop gain) - loss of function |
| c.456C>T | Missense | 0.01% | p.Arg152Cys - altered GTP binding |
| c.789_790insA | Frameshift | <0.01% | Truncated protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein and loss of GTPase activity.
Gain of Function (GOF)
Missense mutations that increase GTP binding or reduce GTP hydrolysis, potentially enhancing oncogenic signaling.
Dominant Negative (DN)
Mutations that impair nucleotide exchange or effector binding, interfering with wild-type RHOV function.
View complete mutation data:
Gene Ontology (GO)
| • GTPase activity | • GTP binding |
| • signal transduction | • cell migration |
| • cytoskeleton organization | • small GTPase mediated signal transduction |
Pathways
• Rho GTPase cycle
• Signaling by Rho family GTPases
• RAC1/PAK1 signaling
• Regulation of actin cytoskeleton
Protein Summary
RHOV encodes a 239-amino acid protein with a conserved Rho GTPase domain. It cycles between an active GTP-bound and inactive GDP-bound state, regulating downstream effectors involved in actin remodeling and cell adhesion. The protein is localized to the plasma membrane and cytoplasm.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RHOV Knockout HEK293 Cell Line | EDJ-KQ1915 | Human | 171177 | Details Get a Quote |
| RHOV Knockout A-549 Cell Line | EDJ-KQ21831 | Human | 171177 | Details Get a Quote |
| RHOV Knockout HCT 116 Cell Line | EDJ-KQ21832 | Human | 171177 | Details Get a Quote |
| RHOV Knockout HeLa Cell Line | EDJ-KQ21833 | Human | 171177 | Details Get a Quote |
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