RHOJ: Ras Homolog Family Member J
A Rho GTPase Involved in Cell Migration, Angiogenesis, and Cancer Progression
Gene Information Card
| Symbol | RHOJ |
|---|---|
| Full Name | ras homolog family member J |
| Gene Type | protein-coding |
| Chromosomal Location | 14q23.2 |
| NCBI Gene ID | 57381 ncbi.nlm.nih.gov/gene/57381 |
| Ensembl ID | ENSG00000100842 |
| UniProt ID | Q9H4E5 |
| OMIM ID | 607371 |
| HGNC ID | 17369 |
| Aliases | TC10, ARHJ, FLJ10390, RHOJ1 |
Description
RHOJ (ras homolog family member J) is a member of the Rho family of small GTPases, closely related to CDC42 and Rac1. It regulates cytoskeletal dynamics, cell migration, and angiogenesis. RHOJ is highly expressed in endothelial cells and certain cancers, where it promotes tumor growth and metastasis. It cycles between an active GTP-bound and inactive GDP-bound state, acting as a molecular switch in signaling pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (breast, lung, melanoma) | RHOJ overexpression enhances cell migration, invasion, and angiogenesis via activation of PAK and JNK pathways. | PMID: 23541922, PMID: 28431213 |
| Retinopathy of prematurity | RHOJ mediates pathological retinal angiogenesis through endothelial cell sprouting. | PMID: 21536856 |
| Wound healing disorders | RHOJ deficiency impairs endothelial cell migration and capillary formation. | PMID: 21536856 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Heart | 5.1 | Low |
| Lung | 12.4 | Medium |
| Liver | 3.8 | Low |
| Kidney | 6.7 | Low |
| Testis | 15.9 | High |
| Placenta | 20.3 | High |
| Endothelial cells | 45.6 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 62.3 | High expression; key for angiogenesis studies |
| MCF7 (breast cancer) | 18.7 | Moderate expression; linked to migration |
| A549 (lung cancer) | 22.1 | Moderate expression; promotes invasion |
| HEK293 (embryonic kidney) | 8.9 | Low baseline expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.172C>T (p.Arg58Cys) | Missense | <0.1% | Potential loss of GTP binding; functional impact unclear |
| c.389G>A (p.Arg130His) | Missense | <0.1% | Reported in COSMIC; no known functional effect |
| c.541A>G (p.Ile181Val) | Missense | <0.1% | Rare variant; likely benign |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in RHOJ. Knockout studies in mice show impaired angiogenesis.
Gain of Function (GOF)
Overexpression or constitutive activation (e.g., Q61L mutant analogous to Rac1) promotes cell migration and invasion in vitro.
Dominant Negative (DN)
Dominant-negative mutants (e.g., T17N) inhibit RHOJ function and reduce endothelial cell sprouting.
View complete mutation data:
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • protein binding | • actin cytoskeleton organization |
| • cell migration | • angiogenesis |
| • signal transduction | • small GTPase mediated signal transduction |
Pathways
• Rho GTPase cycle
• PAK pathway
• JNK cascade
• VEGF signaling in angiogenesis
• Regulation of actin cytoskeleton
Protein Summary
RHOJ encodes a 232-amino acid protein (UniProt Q9H4E5) belonging to the Rho subfamily of small GTPases. It contains conserved G-box motifs for GTP/GDP binding and a C-terminal CAAX box for prenylation and membrane localization. RHOJ localizes to the plasma membrane and endosomes, regulating actin dynamics, cell polarity, and vesicular trafficking. It is essential for endothelial cell migration and tube formation during angiogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RHOJ Knockout HEK293 Cell Line | EDJ-KQ15063 | Human | 57381 | Details Get a Quote |
| RHOJ Knockout HeLa Cell Line | EDJ-KQ56832 | Human | 57381 | Details Get a Quote |
| RHOJ Knockout A-549 Cell Line | EDJ-KQ65342 | Human | 57381 | Details Get a Quote |
| RHOJ Knockout HCT 116 Cell Line | EDJ-KQ73781 | Human | 57381 | Details Get a Quote |
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