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50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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RHOA
ras homolog family member A
Chromosome 3 Β· 3p21.31
NCBI Gene: 387Ensembl: ENSG00000067560.14HGNC: HGNC:667UniProt: A0A024R324
1,169PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneOncogene
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
regulation of modification of postsynaptic structurecytosolG protein activitypositive regulation of T cell migrationectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesBurkitts lymphomagastric adenocarcinomaurinary bladder cancer
✦AI Summary

RHOA is a small GTPase that functions as a central regulator of cytoskeletal dynamics and multiple signal transduction pathways 1. It controls diverse cellular processes including cell migration, adhesion, proliferation, and survival 1. RHOA operates through downstream effector proteins, particularly Rho kinases (ROCKs), which modulate smooth muscle contractility and vascular function 2. Additionally, RHOA regulates mitochondria-endoplasmic reticulum contact sites (MERCS) by modulating the VAPB/PTPIP51 tethering complex, thereby influencing calcium homeostasis and cellular metabolism 3. RHOA also serves as an auxiliary subunit for the TRPV4 ion channel, constraining channel gating through state-dependent interactions 4. Deregulated RHOA activity is implicated in multiple pathological contexts. In hematological malignancies, both gain and loss-of-function mutations occur, with context-dependent tumor-promoting or suppressive effects 1. Aberrant RhoA signaling contributes to neurodegenerative diseases including Parkinson's, Alzheimer's, Huntington's disease, and amyotrophic lateral sclerosis 5. Disease alleles in RHOA, CUL3, and VAPB disrupt MERCS regulation, linking RhoA dysfunction to cancer, hyperkalemia, and neurodegeneration 3. RhoA/ROCK signaling abnormalities also contribute to cardiovascular disease, particularly hypertension 2. These diverse functions establish RHOA as an attractive therapeutic target for multiple diseases.

Sources cited
1
RHOA regulates cytoskeletal dynamics, cell survival, migration, adhesion, and proliferation; both gain and loss-of-function mutations occur in hematological cancers with context-dependent effects
PMID: 36766776
2
RhoA/ROCK signaling regulates smooth muscle contractility, proliferation, and migration; abnormalities in RhoA/ROCK signaling are observed in hypertension and cardiovascular disease
PMID: 20460153
3
RHOA regulates mitochondria-ER contact sites by modulating VAPB/PTPIP51 complex formation; disease alleles disrupt this mechanism in cancer, hyperkalemia, and neurodegeneration
PMID: 41392169
4
RHOA serves as an auxiliary subunit for TRPV4 ion channel, constraining channel gating and regulating calcium homeostasis; mutations disrupting TRPV4-RhoA interactions cause neuromuscular disease
PMID: 37353484
5
Aberrant RhoA signaling is implicated in neurodegenerative diseases including Parkinson's disease, Alzheimer's disease, Huntington's disease, and amyotrophic lateral sclerosis
PMID: 35563826
6
RHOA mutations are frequent in various human cancers including angioimmunoblastic T-cell lymphoma, adult T-cell leukemia/lymphoma, and diffuse-type gastric cancer
PMID: 27693615
7
RhoA GTPase inhibitors have been identified as potential therapeutic agents; deregulated Rho GTPase activity is associated with cancers and neurodegenerative diseases
PMID: 36854376
Disease Associationsβ“˜21
ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesOpen Targets
0.68Moderate
Burkitts lymphomaOpen Targets
0.53Moderate
gastric adenocarcinomaOpen Targets
0.50Moderate
urinary bladder cancerOpen Targets
0.46Moderate
angioimmunoblastic T-cell lymphomaOpen Targets
0.40Weak
gastric carcinomaOpen Targets
0.38Weak
adult T-cell leukemia/lymphomaOpen Targets
0.38Weak
diffuse gastric adenocarcinomaOpen Targets
0.37Weak
unspecified peripheral T-cell lymphomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
gastric intestinal type adenocarcinomaOpen Targets
0.37Weak
non-Hodgkins lymphomaOpen Targets
0.37Weak
diffuse large B-cell lymphomaOpen Targets
0.34Weak
HemihypertrophyOpen Targets
0.34Weak
head and neck squamous cell carcinomaOpen Targets
0.34Weak
ebv-positive nodal t- and nk-cell lymphomaOpen Targets
0.33Weak
acute myeloid leukemiaOpen Targets
0.32Weak
Pleural MesotheliomaOpen Targets
0.31Weak
prostate adenocarcinomaOpen Targets
0.31Weak
cutaneous melanomaOpen Targets
0.30Weak
Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesUniProt
Pathogenic Variants4
NM_001664.4(RHOA):c.139G>A (p.Glu47Lys)Pathogenic
neuro-ectodermal phenotype|Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies|not provided|Hemihypertrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 47
NM_001664.4(RHOA):c.208A>G (p.Arg70Gly)Likely pathogenic
Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
β˜…β˜†β˜†β˜†β†’ Residue 70
NM_001664.4(RHOA):c.211C>T (p.Pro71Ser)Pathogenic
Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
β˜†β˜†β˜†β˜†2020β†’ Residue 71
NM_001664.4(RHOA):c.50G>T (p.Gly17Val)Pathogenic
EBV-positive nodal T- and NK-cell lymphoma|Neoplasm
β˜†β˜†β˜†β˜†β†’ Residue 17
View on ClinVar β†—
Related Genes
PTK2Protein interaction100%ARHGEF1Protein interaction100%ARHGEF11Protein interaction100%ARHGEF12Protein interaction100%RHPN1Protein interaction100%RACGAP1Protein interaction100%
Tissue Expression6 tissues
Lung
100%
Brain
77%
Ovary
59%
Bone Marrow
57%
Heart
55%
Liver
31%
Gene Interaction Network
Click a node to explore
RHOAPTK2ARHGEF1ARHGEF11ARHGEF12RHPN1RACGAP1
PROTEIN STRUCTURE
Preparing viewer…
PDB6V6U Β· 1.16 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.43Moderately Constrained
pLIβ“˜
0.99Intolerant
Observed/Expected LoF0.17 [0.07–0.43]
RankingsWhere RHOA stands among ~20K protein-coding genes
  • #125of 20,598
    Most Researched1,169 Β· top 1%
  • #3,660of 5,498
    Most Pathogenic Variants4
  • #2,332of 17,882
    Most Constrained (LOEUF)0.43 Β· top quartile
Genes detectedRHOA
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
RhoA and Rho kinase activation in human pulmonary hypertension: role of 5-HT signaling.
PMID: 19299501
Am J Respir Crit Care Med Β· 2009
1.00
2
Unveiling the role of RhoA and ferroptosis in vascular permeability: Implications for osteoarthritis.
PMID: 39129277
Int J Mol Med Β· 2024
0.90
3
RhoA Signaling in Neurodegenerative Diseases.
PMID: 35563826
Cells Β· 2022
0.90
4
RHOA-associated disorder can be non-mosaic.
PMID: 40414526
Eur J Med Genet Β· 2025
0.88
5
RHOA takes the RHOad less traveled to cancer.
PMID: 35568648
Trends Cancer Β· 2022
0.84