Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
387
Gene name Gene Name - the full gene name approved by the HGNC.
Ras homolog family member A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RHOA
Synonyms (NCBI Gene) Gene synonyms aliases
ARH12, ARHA, EDFAOB, RHO12, RHOH12
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.31
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskel
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1057519951 C>G,T Likely-pathogenic Missense variant, 5 prime UTR variant, coding sequence variant
rs1057519952 G>A Likely-pathogenic Intron variant, missense variant, coding sequence variant
rs1057519953 C>A,T Likely-pathogenic Intron variant, missense variant, coding sequence variant
rs1057519954 T>A,C,G Likely-pathogenic Missense variant, 5 prime UTR variant, coding sequence variant
rs1575647025 G>A Pathogenic Intron variant, 5 prime UTR variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001961 hsa-miR-155-5p Luciferase reporter assay 18794355
MIRT001961 hsa-miR-155-5p Luciferase reporter assay 18794355
MIRT001961 hsa-miR-155-5p Luciferase reporter assay 18794355
MIRT001961 hsa-miR-155-5p Western blot 18794355
MIRT001961 hsa-miR-155-5p qRT-PCR 18794355
Transcription factors
Transcription factor Regulation Reference
PTTG1 Activation 22081074
STAT6 Activation 19857574
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000281 Process Mitotic cytokinesis IEA
GO:0000902 Process Cell morphogenesis IEA
GO:0001764 Process Neuron migration IEA
GO:0001822 Process Kidney development IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
165390 667 ENSG00000067560
Protein
UniProt ID P61586
Protein name Transforming protein RhoA (EC 3.6.5.2) (Rho cDNA clone 12) (h12)
Protein function Small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. Mainly associated with cytoskeleton organization, in active state binds to a variety of effector proteins to regulate cellular responses such as cytoskeletal
PDB 1A2B , 1CC0 , 1CXZ , 1DPF , 1FTN , 1KMQ , 1LB1 , 1OW3 , 1S1C , 1TX4 , 1X86 , 1XCG , 2RGN , 3KZ1 , 3LW8 , 3LWN , 3LXR , 3MSX , 3T06 , 4D0N , 4XH9 , 4XOI , 4XSG , 4XSH , 5A0F , 5BWM , 5C2K , 5C4M , 5EZ6 , 5FR1 , 5FR2 , 5HPY , 5IRC , 5JCP , 5JHG , 5JHH , 5M6X , 5M70 , 5ZHX , 6BC0 , 6BCA , 6BCB , 6KX2 , 6KX3 , 6R3V , 6V6M , 6V6U , 6V6V , 7G80 , 7G81 , 7G82
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 7 180 Ras family Domain
Sequence
Sequence length 193
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Ras signaling pathway
Rap1 signaling pathway
cGMP-PKG signaling pathway
cAMP signaling pathway
Chemokine signaling pathway
Sphingolipid signaling pathway
Phospholipase D signaling pathway
Hormone signaling
Endocytosis
mTOR signaling pathway
Vascular smooth muscle contraction
Wnt signaling pathway
TGF-beta signaling pathway
Axon guidance
Focal adhesion
Adherens junction
Tight junction
Platelet activation
NOD-like receptor signaling pathway
C-type lectin receptor signaling pathway
T cell receptor signaling pathway
Leukocyte transendothelial migration
Neurotrophin signaling pathway
Regulation of actin cytoskeleton
Oxytocin signaling pathway
Parathyroid hormone synthesis, secretion and action
Pancreatic secretion
Bacterial invasion of epithelial cells
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Pertussis
Yersinia infection
Tuberculosis
Human cytomegalovirus infection
Pathways in cancer
Viral carcinogenesis
Proteoglycans in cancer
MicroRNAs in cancer
Colorectal cancer
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis
  GPVI-mediated activation cascade
Axonal growth inhibition (RHOA activation)
Rho GTPase cycle
PI3K/AKT activation
Axonal growth stimulation
TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
G beta:gamma signalling through PI3Kgamma
EPHB-mediated forward signaling
EPHA-mediated growth cone collapse
PCP/CE pathway
G alpha (12/13) signalling events
Sema4D mediated inhibition of cell attachment and migration
Sema4D induced cell migration and growth-cone collapse
VEGFA-VEGFR2 Pathway
RHO GTPases activate PKNs
RHO GTPases activate CIT
RHO GTPases activate KTN1
RHO GTPases Activate ROCKs
RHO GTPases Activate Formins
RHO GTPases Activate Rhotekin and Rhophilins
Ovarian tumor domain proteases
ERBB2 Regulates Cell Motility
Neutrophil degranulation
PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
SLIT2:ROBO1 increases RHOA activity
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Ectodermal Dysplasia Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies rs1575653629, rs1575647025 N/A
Congenital Hemihypertrophy Hemihypertrophy rs1575653629 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Inflammatory Bowel Disease Inflammatory bowel disease (MTAG) N/A N/A GWAS
Myocardial Infarction Myocardial infarction N/A N/A GWAS
neoplasm Neoplasm N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 22251897
Acute Aortic Syndrome Associate 35804020
Adenocarcinoma Associate 23200924, 30425335, 38584451
Adenocarcinoma of Lung Associate 34748526, 36453714
Adenoma Associate 26313302
Adenoma Inhibit 31506480
Adenomyosis Associate 30387365
Alopecia Associate 31570889
Alzheimer Disease Associate 28558704, 34326892
Anemia Sickle Cell Inhibit 22982429