Gene Gene information from NCBI Gene database.
Entrez ID 387
Gene name Ras homolog family member A
Gene symbol RHOA
Synonyms (NCBI Gene)
ARH12ARHAEDFAOBRHO12RHOH12
Chromosome 3
Chromosome location 3p21.31
Summary 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.
6
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.
738
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 factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
PTTG1 Activation 22081074
STAT6 Activation 19857574
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
156
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
165390 667 ENSG00000067560
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
EBV-positive nodal T- and NK-cell lymphoma Pathogenic rs11552761 RCV004557917
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies Likely pathogenic; Pathogenic rs1333410252, rs1575653629, rs1575647025 RCV001526566
RCV001526531
RCV002221594
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemihypertrophy Pathogenic rs1575653629 RCV001526536
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm Pathogenic rs11552761 RCV005230514
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma LHGDN 18495213
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 30425335
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 23358651
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CLINVAR_DG 26619011
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 26616858
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 26574607, 26847067
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia CTD_human_DG 31570889
★☆☆☆☆
Found in Text Mining only
Alopecia, Male Pattern Alopecia, Male Pattern CTD_human_DG 31570889
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 28558704, 34326892 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anaplastic carcinoma Anaplastic Carcinoma CTD_human_DG 24816255
★☆☆☆☆
Found in Text Mining only