ARHGDIA (Rho GDP dissociation inhibitor alpha)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 396
Gene name Rho GDP dissociation inhibitor alpha
Gene symbol ARHGDIA
Synonyms (NCBI Gene)
GDIA1HEL-S-47eNPHS8RHOGDIRHOGDI-1
Chromosome 17
Chromosome location 17q25.3
Summary This gene encodes a protein that plays a key role in the regulation of signaling through Rho GTPases. The encoded protein inhibits the disassociation of Rho family members from GDP (guanine diphosphate), thereby maintaining these factors in an inactive st
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs587776969 GTC>- Pathogenic Splice acceptor variant, inframe deletion, coding sequence variant, intron variant, non coding transcript variant
rs587777552 C>A Pathogenic Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs587777553 G>A Pathogenic Coding sequence variant, stop gained, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
1029
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1029)
miRTarBase ID miRNA Experiments Reference
MIRT004486 hsa-miR-151a-5p real time qRT-PCRLuciferase reporter assayWestern blot 20305651
MIRT001479 hsa-miR-16-5p pSILAC 18668040
MIRT001479 hsa-miR-16-5p Proteomics;Other 18668040
MIRT049570 hsa-miR-92a-3p CLASH 23622248
MIRT047092 hsa-miR-183-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (24)
GO ID Ontology Definition Evidence Reference
GO:0001772 Component Immunological synapse IEA
GO:0005094 Function Rho GDP-dissociation inhibitor activity IBA
GO:0005094 Function Rho GDP-dissociation inhibitor activity IEA
GO:0005094 Function Rho GDP-dissociation inhibitor activity TAS 8262133
GO:0005096 Function GTPase activator activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601925 678 ENSG00000141522
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P52565
Protein name Rho GDP-dissociation inhibitor 1 (Rho GDI 1) (Rho-GDI alpha)
Protein function Controls Rho proteins homeostasis. Regulates the GDP/GTP exchange reaction of the Rho proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Retains Rho proteins such as CDC42, RAC1 and RHOA in an in
PDB 1CC0 , 1FSO , 1FST , 1FT0 , 1FT3 , 1HH4 , 1KMT , 1QVY , 1RHO , 2BXW , 2JHS , 2JHT , 2JHU , 2JHV , 2JHW , 2JHX , 2JHY , 2JHZ , 2JI0 , 2N80 , 8X8T
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02115 Rho_GDI 11 → 201 RHO protein GDP dissociation inhibitor Domain
Sequence
Sequence length 204
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Neurotrophin signaling pathway
Vasopressin-regulated water reabsorption 		  Axonal growth inhibition (RHOA activation)
Rho GTPase cycle
Axonal growth stimulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Nephrotic syndrome, type 8 Pathogenic; Likely pathogenic rs587777552, rs587777553, rs924285282, rs587776969 RCV000128808
RCV000128809
RCV003989179
RCV000043532
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (9)
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
ARHGDIA-related disorder Uncertain significance; Likely benign; Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic kidney disease Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASES — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (55)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 24710410
★★★★★
★☆☆☆☆
Found in Text Mining only
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2 Sleep Phase Syndrome GENOMICS_ENGLAND_DG 30295827
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma CTD_human_DG 20562527
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 21447808, 24815488
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 24815488 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma Carcinoma BEFREE 21208644
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 12679910 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 24228117, 24374343 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 27832197 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Central visual impairment Central Visual Impairment HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only