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 state. Activity of this protein is important in a variety of cellular processes, and expression of this gene may be altered in ... See more...

Aliases for ARHGDIA Gene

Aliases for ARHGDIA Gene

  • Rho GDP Dissociation Inhibitor Alpha 2 3 5
  • Rho GDP Dissociation Inhibitor (GDI) Alpha 2 3
  • Rho GDP-Dissociation Inhibitor 1 3 4
  • GDIA1 3 4
  • GDP-Dissociation Inhibitor, Aplysia RAS-Related 1 3
  • Epididymis Secretory Sperm Binding Protein Li 47e 3
  • Rho-GDI Alpha 4
  • HEL-S-47e 3
  • Rho GDI 1 4
  • RHOGDI-1 3
  • RHOGDI 3
  • NPHS8 3

External Ids for ARHGDIA Gene

Previous HGNC Symbols for ARHGDIA Gene

  • GDIA1

Previous GeneCards Identifiers for ARHGDIA Gene

  • GC17M079317
  • GC17M9I0128
  • GC17M080361
  • GC17M9I0504
  • GC17M9I7418
  • GC17M077419
  • GC17M079825
  • GC17M075227

Summaries for ARHGDIA Gene

Entrez Gene Summary for ARHGDIA 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 state. Activity of this protein is important in a variety of cellular processes, and expression of this gene may be altered in tumors. Mutations in this gene have been found in individuals with nephrotic syndrome, type 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

GeneCards Summary for ARHGDIA Gene

ARHGDIA (Rho GDP Dissociation Inhibitor Alpha) is a Protein Coding gene. Diseases associated with ARHGDIA include Nephrotic Syndrome, Type 8 and Genetic Steroid-Resistant Nephrotic Syndrome. Among its related pathways are G-protein signaling_RhoA regulation pathway and Regulation of CDC42 activity. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and Rho GDP-dissociation inhibitor activity. An important paralog of this gene is ARHGDIB.

UniProtKB/Swiss-Prot Summary for ARHGDIA Gene

  • 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 inactive cytosolic pool, regulating their stability and protecting them from degradation. Actively involved in the recycling and distribution of activated Rho GTPases in the cell, mediates extraction from membranes of both inactive and activated molecules due its exceptionally high affinity for prenylated forms. Through the modulation of Rho proteins, may play a role in cell motility regulation. In glioma cells, inhibits cell migration and invasion by mediating the signals of SEMA5A and PLXNB3 that lead to inactivation of RAC1.

Gene Wiki entry for ARHGDIA Gene

Additional gene information for ARHGDIA Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARHGDIA Gene

Genomics for ARHGDIA Gene

GeneHancer (GH) Regulatory Elements for ARHGDIA Gene

Promoters and enhancers for ARHGDIA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J081864 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +2.5 2463 8.9 HNRNPK EP300 CTCF SIN3A TCF12 NRF1 MYC POLR2G USF1 SP1 ARHGDIA ENSG00000262413 lnc-ARHGDIA-1 FAAP100 NARF-IT1 TBCD HEXD ENSG00000265678 ENSG00000260563 RFNG
GH17J081384 Promoter/Enhancer 2.4 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 1.3 +475.3 475346 22.5 EP300 FOXK2 ZNF217 CTCF ZSCAN5C NRF1 TCF12 POLR2G USF1 SP1 BAHCC1 lnc-BAHCC1-3 lnc-TMEM105-4 ENSG00000279692 ENSG00000262877 CEP131 GPS1 CCDC57 ENSG00000265678 RFNG
GH17J081873 Enhancer 0.4 dbSUPER 0.7 -2.6 -2606 0.6 ZNF18 FOS PRDM10 P4HB CYBC1 ARHGDIA ENSG00000263859
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARHGDIA on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARHGDIA

Top Transcription factor binding sites by QIAGEN in the ARHGDIA gene promoter:
  • AP-1
  • C/EBPalpha
  • CUTL1
  • MyoD

Genomic Locations for ARHGDIA Gene

Genomic Locations for ARHGDIA Gene
chr17:81,867,719-81,871,406
(GRCh38/hg38)
Size:
3,688 bases
Orientation:
Minus strand
chr17:79,825,597-79,829,282
(GRCh37/hg19)
Size:
3,686 bases
Orientation:
Minus strand

Genomic View for ARHGDIA Gene

Genes around ARHGDIA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGDIA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGDIA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGDIA Gene

Proteins for ARHGDIA Gene

  • Protein details for ARHGDIA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52565-GDIR1_HUMAN
    Recommended name:
    Rho GDP-dissociation inhibitor 1
    Protein Accession:
    P52565
    Secondary Accessions:
    • A8MXW0
    • B2R5X1
    • B4DDD3
    • B4DUV9
    • Q6IBM5

    Protein attributes for ARHGDIA Gene

    Size:
    204 amino acids
    Molecular mass:
    23207 Da
    Quaternary structure:
    • Monomer (By similarity). Interacts with FER (PubMed:21122136). Interacts with PLXNB3 (By similarity). Forms a heterodimer with RAC1 (PubMed:23434736). Interacts with RHOA, the affinity is increased by three orders of magnitude when RHOA is prenylated (PubMed:20628200, PubMed:20400958, PubMed:26646181, PubMed:23434736). Interacts with PSMD10; the interaction increases ARHGDIA association with RHOA, leading to ARHGDIA-mediated inactivation of RHOA and ROCK and prolonged AKT activation (PubMed:20628200). Interacts with KANK2; the interaction is direct and may regulate the interaction of ARHGDIA with RHOA, RAC1 and CDC42 (PubMed:25961457). Interacts with RHOC (PubMed:20400958). Interacts with CDC42 (PubMed:23434736). Interacts with NGFR (via death domain); NGFR binding decreases the affinity for RHOA (PubMed:26646181).

    Three dimensional structures from OCA and Proteopedia for ARHGDIA Gene

    Alternative splice isoforms for ARHGDIA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGDIA Gene

Post-translational modifications for ARHGDIA Gene

  • Ubiquitination at Lys127, Lys141, and Lys167
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ARHGDIA Gene

Domains & Families for ARHGDIA Gene

Gene Families for ARHGDIA Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ARHGDIA Gene

Blocks:
  • RHO protein GDP dissociation inhibitor signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ARHGDIA Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50748, highly similar to Rho GDP-dissociation inhibitor 1 (A8MXW0_HUMAN)
  • Rho-GDI alpha (GDIR1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P52565

UniProtKB/Swiss-Prot:

GDIR1_HUMAN :
  • Belongs to the Rho GDI family.
Family:
  • Belongs to the Rho GDI family.
genes like me logo Genes that share domains with ARHGDIA: view

Function for ARHGDIA Gene

Molecular function for ARHGDIA Gene

UniProtKB/Swiss-Prot 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 inactive cytosolic pool, regulating their stability and protecting them from degradation. Actively involved in the recycling and distribution of activated Rho GTPases in the cell, mediates extraction from membranes of both inactive and activated molecules due its exceptionally high affinity for prenylated forms. Through the modulation of Rho proteins, may play a role in cell motility regulation. In glioma cells, inhibits cell migration and invasion by mediating the signals of SEMA5A and PLXNB3 that lead to inactivation of RAC1.
GENATLAS Biochemistry:
Rho GDP-dissociation factor inhibitor (GDI) alpha,aplysia related

Phenotypes From GWAS Catalog for ARHGDIA Gene

Gene Ontology (GO) - Molecular Function for ARHGDIA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005094 Rho GDP-dissociation inhibitor activity IEA,IBA 21873635
GO:0005096 GTPase activator activity IEA --
GO:0005504 fatty acid binding IEA --
GO:0005515 protein binding IPI 10489445
GO:0017048 Rho GTPase binding IEA --
genes like me logo Genes that share ontologies with ARHGDIA: view
genes like me logo Genes that share phenotypes with ARHGDIA: view

Human Phenotype Ontology for ARHGDIA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ARHGDIA Gene

MGI Knock Outs for ARHGDIA:

Animal Model Products

CRISPR Products

miRNA for ARHGDIA Gene

miRTarBase miRNAs that target ARHGDIA

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARHGDIA

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ARHGDIA Gene

Localization for ARHGDIA Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGDIA Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ARHGDIA gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 3
plasma membrane 2
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
peroxisome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ARHGDIA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton TAS 16130169
genes like me logo Genes that share ontologies with ARHGDIA: view

Pathways & Interactions for ARHGDIA Gene

genes like me logo Genes that share pathways with ARHGDIA: view

Pathways by source for ARHGDIA Gene

7 GeneGo (Thomson Reuters) pathways for ARHGDIA Gene
  • Development MAG-dependent inhibition of neurite outgrowth
  • G-protein signaling_Rac2 regulation pathway
  • G-protein signaling_Regulation of CDC42 activity
  • G-protein signaling_Regulation of RAC1 activity
  • G-protein signaling_RhoA regulation pathway
6 Qiagen pathways for ARHGDIA Gene
  • Actin Nucleation by ARP-WASP Complex
  • Actin-Based Motility by Rho Family GTPases
  • Crosstalk Between CARM1 and ESRs
  • Rho Family GTPases
  • RhoA Pathway
1 Cell Signaling Technology pathway for ARHGDIA Gene

SIGNOR curated interactions for ARHGDIA Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for ARHGDIA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007162 negative regulation of cell adhesion TAS 8262133
GO:0007266 Rho protein signal transduction IBA 21873635
GO:0008360 regulation of cell shape IEA --
GO:0030336 negative regulation of cell migration IEA --
GO:0032880 regulation of protein localization IEA --
genes like me logo Genes that share ontologies with ARHGDIA: view

Drugs & Compounds for ARHGDIA Gene

(2) Drugs for ARHGDIA Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(2) Additional Compounds for ARHGDIA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ARHGDIA: view

Transcripts for ARHGDIA Gene

mRNA/cDNA for ARHGDIA Gene

7 REFSEQ mRNAs :
37 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARHGDIA

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGDIA Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e · 7f · 7g · 7h ^ 8a · 8b ^ 9
SP1: - - -
SP2: - -
SP3: - - - - - - - -
SP4: - - - - - -
SP5: - - -
SP6: - - - - - -
SP7: -
SP8: - - -
SP9: -
SP10: - - - - - -
SP11: -

Relevant External Links for ARHGDIA Gene

GeneLoc Exon Structure for
ARHGDIA

Expression for ARHGDIA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARHGDIA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARHGDIA Gene



Protein tissue co-expression partners for ARHGDIA Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARHGDIA

SOURCE GeneReport for Unigene cluster for ARHGDIA Gene:

Hs.159161

Evidence on tissue expression from TISSUES for ARHGDIA Gene

  • Nervous system(5)
  • Lung(4.9)
  • Skin(4.9)
  • Intestine(4.8)
  • Liver(4.8)
  • Blood(4.7)
  • Muscle(4.6)
  • Pancreas(3.7)
  • Kidney(3.4)
  • Stomach(3.3)
  • Eye(2.9)
  • Bone marrow(2.4)
  • Heart(2.2)
  • Spleen(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ARHGDIA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • respiratory
  • urinary
Regions:
Head and neck:
  • ear
Thorax:
  • heart
  • lung
Abdomen:
  • kidney
Pelvis:
  • urinary bladder
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with ARHGDIA: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ARHGDIA Gene

Orthologs for ARHGDIA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ARHGDIA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARHGDIA 31 30
  • 99.35 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARHGDIA 31
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARHGDIA 31 30
  • 91.83 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ARHGDIA 31 30
  • 91.34 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Arhgdia 17 31 30
  • 88.4 (n)
rat
(Rattus norvegicus)
Mammalia Arhgdia 30
  • 87.58 (n)
chicken
(Gallus gallus)
Aves ARHGDIA 31 30
  • 83.5 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARHGDIA 31
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgdia 30
  • 69.8 (n)
Str.1468 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.13978 30
zebrafish
(Danio rerio)
Actinopterygii arhgdia 31 30
  • 79.8 (n)
OneToOne
wufa96g11 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012168 30
  • 61.08 (n)
fruit fly
(Drosophila melanogaster)
Insecta RhoGDI 31 32 30
  • 59.42 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rhi-1 31 32 30
  • 50.09 (n)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR098C 30
  • 53.75 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F05313g 30
  • 46.48 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RDI1 33 31 30
  • 45.95 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons SCN1 30
  • 49.41 (n)
rice
(Oryza sativa)
Liliopsida Os06g0318300 30
  • 54.64 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06561 30
  • 55.68 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 45 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC6F12.06 30
  • 44.02 (n)
Species where no ortholog for ARHGDIA was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ARHGDIA Gene

ENSEMBL:
Gene Tree for ARHGDIA (if available)
TreeFam:
Gene Tree for ARHGDIA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARHGDIA: view image

Paralogs for ARHGDIA Gene

Paralogs for ARHGDIA Gene

(2) SIMAP similar genes for ARHGDIA Gene using alignment to 6 proteins:

  • GDIR1_HUMAN
  • J3KRE2_HUMAN
  • J3KRY1_HUMAN
  • J3KS60_HUMAN
  • J3KTF8_HUMAN
  • J3QQX2_HUMAN
genes like me logo Genes that share paralogs with ARHGDIA: view

Variants for ARHGDIA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARHGDIA Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
713710 Likely Benign: not provided 81,869,079(-) C/T INTRON_VARIANT
727690 Benign: not provided 81,869,059(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT
rs587776969 Pathogenic: Nephrotic syndrome, type 8 81,868,935(-) TGTC/T NON_CODING_TRANSCRIPT_VARIANT,INFRAME_DELETION,INTRON_VARIANT
rs587777552 Pathogenic: Nephrotic syndrome, type 8 81,868,973(-) C/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
rs587777553 Pathogenic: Nephrotic syndrome, type 8 81,869,230(-) G/A NONSENSE,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for ARHGDIA Gene

Structural Variations from Database of Genomic Variants (DGV) for ARHGDIA Gene

Variant ID Type Subtype PubMed ID
esv21913 CNV gain+loss 19812545
esv3641407 CNV gain 21293372
nsv1071814 CNV deletion 25765185
nsv1126474 CNV deletion 24896259
nsv1136245 CNV deletion 24896259
nsv428351 CNV gain 18775914
nsv470620 CNV loss 18288195
nsv833569 CNV loss 17160897
nsv952391 CNV deletion 24416366

Variation tolerance for ARHGDIA Gene

Residual Variation Intolerance Score: 49.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.46; 28.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARHGDIA Gene

Human Gene Mutation Database (HGMD)
ARHGDIA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGDIA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGDIA Gene

Disorders for ARHGDIA Gene

MalaCards: The human disease database

(9) MalaCards diseases for ARHGDIA Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nephrotic syndrome, type 8
  • nphs8
genetic steroid-resistant nephrotic syndrome
  • nephrotic syndrome, steroid-resistant, autosomal recessive
nephrotic syndrome
  • finnish congenital nephrotic syndrome
diffuse mesangial sclerosis
  • diffuse isolated mesangial sclerosis
articulation disorder
  • articulation impairment
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GDIR1_HUMAN
  • Nephrotic syndrome 8 (NPHS8) [MIM:615244]: A form of nephrotic syndrome, a renal disease clinically characterized by progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show diffuse mesangial sclerosis, with small glomeruli, hypercellularity, increased extracellular matrix, and contracted/collapsed glomerular tufts surrounded by immature or abnormal podocytes. {ECO:0000269 PubMed:23434736}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ARHGDIA

genes like me logo Genes that share disorders with ARHGDIA: view

No data available for Genatlas for ARHGDIA Gene

Publications for ARHGDIA Gene

  1. Structural basis of death domain signaling in the p75 neurotrophin receptor. (PMID: 26646181) Lin Z … Ibanez CF (eLife 2015) 3 4 54
  2. KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. (PMID: 25961457) Gee HY … Hildebrandt F (The Journal of clinical investigation 2015) 3 4 54
  3. ARHGDIA: a novel gene implicated in nephrotic syndrome. (PMID: 23434736) Gupta IR … Takano T (Journal of medical genetics 2013) 3 4 54
  4. Regulation of Rho GTPase crosstalk, degradation and activity by RhoGDI1. (PMID: 20400958) Boulter E … Burridge K (Nature cell biology 2010) 3 4 54
  5. The Fer tyrosine kinase regulates interactions of Rho GDP-Dissociation Inhibitor α with the small GTPase Rac. (PMID: 21122136) Fei F … Heisterkamp N (BMC biochemistry 2010) 3 4 54

Products for ARHGDIA Gene

Sources for ARHGDIA Gene