ARHGDIA (Rho GDP dissociation inhibitor alpha)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
396
Gene name Gene Name - the full gene name approved by the HGNC.
Rho GDP dissociation inhibitor alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ARHGDIA
Synonyms (NCBI Gene) Gene synonyms aliases
GDIA1, HEL-S-47e, NPHS8, RHOGDI, RHOGDI-1
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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-PCR, Luciferase reporter assay, Western 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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601925 678 ENSG00000141522
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Nephrotic Syndrome nephrotic syndrome, type 8 rs587776969, rs587777552, rs587777553 N/A
Show/Hide Unknown Diseases (1)
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
Finnish Congenital Nephrotic Syndrome finnish congenital nephrotic syndrome N/A N/A ClinVar
Show/Hide Text Mining Associations (20)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 24815488
Carcinoma Hepatocellular Inhibit 12679910
Carcinoma Hepatocellular Associate 24228117, 24374343
Carcinoma Pancreatic Ductal Associate 27832197
Colorectal Neoplasms Associate 20812987, 28417530
Death Associate 19401544
Genetic Diseases Inborn Associate 24196483
Lung Neoplasms Associate 24685647
Mesothelioma Associate 21569526
Neoplasm Metastasis Associate 22393046, 26707877