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Aliases for ARHGAP4 Gene

Aliases for ARHGAP4 Gene

  • Rho GTPase Activating Protein 4 2 3 5
  • Rho-GAP Hematopoietic Protein C1 2 3 4
  • Rho-Type GTPase-Activating Protein 4 3 4
  • RhoGAP4 3 4
  • RGC1 3 4
  • P115 3 4
  • Rho GTPase-Activating Protein 4 3
  • KIAA0131 4
  • SrGAP4 3
  • C1 3

External Ids for ARHGAP4 Gene

Previous GeneCards Identifiers for ARHGAP4 Gene

  • GC0XM147310
  • GC0XM149627
  • GC0XM150758
  • GC0XM151640
  • GC0XM152693
  • GC0XM152826
  • GC0XM153172
  • GC0XM141824

Summaries for ARHGAP4 Gene

Entrez Gene Summary for ARHGAP4 Gene

  • This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins belonging to the RAS superfamily. The protein encoded by the orthologous gene in rat is localized to the Golgi complex and can redistribute to microtubules. The rat protein stimulates the activity of some Rho GTPases in vitro. Genomic deletions of this gene and a neighboring gene have been found in patients with nephrogenic diabetes insipidus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

GeneCards Summary for ARHGAP4 Gene

ARHGAP4 (Rho GTPase Activating Protein 4) is a Protein Coding gene. Diseases associated with ARHGAP4 include Diabetes Insipidus, Nephrogenic and Diabetes Insipidus. Among its related pathways are Regulation of RhoA activity and G12-G13 in Cellular Signaling. GO annotations related to this gene include GTPase activator activity and Rac GTPase binding. An important paralog of this gene is SRGAP3.

UniProtKB/Swiss-Prot for ARHGAP4 Gene

  • Inhibitory effect on stress fiber organization. May down-regulate Rho-like GTPase in hematopoietic cells.

Gene Wiki entry for ARHGAP4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARHGAP4 Gene

Genomics for ARHGAP4 Gene

Regulatory Elements for ARHGAP4 Gene

Enhancers for ARHGAP4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF153886 0.9 FANTOM5 ENCODE 12.4 +48.0 48032 1.3 ZNF263 KLF1 MAZ ZIC2 GATA3 GATA2 ZBTB48 IKZF1 EZH2 EGR2 RENBP TMEM187 PDZD4 IDH3G SSR4 SRPK3 PLXNB3 ARHGAP4 NAA10 ABCD1
GH0XF153980 1.3 FANTOM5 ENCODE 6.9 -48.8 -48819 7.3 HDGF PKNOX1 ARNT NFRKB ZBTB40 ZNF121 ZNF263 ZNF362 SP3 MIER1 TMEM187 ARHGAP4 MECP2 ABCD1 TAZ RENBP DNASE1L1 MIR3202-2 MIR718
GH0XF154038 1.5 FANTOM5 Ensembl ENCODE 4.2 -108.3 -108305 9.2 ZNF133 FEZF1 RAD21 ZNF121 GATA2 SCRT2 FOS EGR2 CEBPB NR2F2 TMEM187 HCFC1 MIR718 HCFC1-AS1 PLXNA3 IKBKG ABCD1 DNASE1L1 MECP2 FAM50A
GH0XF153965 1.5 FANTOM5 ENCODE 3.9 -35.5 -35517 10.0 HDGF PKNOX1 CREB3L1 WRNIP1 ZFP64 SIN3A FEZF1 DMAP1 ZNF2 YY1 TMEM187 LOC105373387 MAGEA1 ENSG00000234200 SNORA70 EMD HCFC1 SNORA56 FAM3A ABCD1
GH0XF153730 1.3 FANTOM5 Ensembl ENCODE 4 +203.3 203340 2.8 SOX13 GATAD2A SOX5 CBX3 IRF2 SAP130 HLF JUNB CEBPB CEBPG PNCK LOC102723591 PLXNB3 SLC6A8 ABCD1 MECP2 TMEM187 IKBKG ARHGAP4 IRAK1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ARHGAP4 on UCSC Golden Path with GeneCards custom track

Promoters for ARHGAP4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000483144 398 2400 SIN3A ELK1 SP3 NFYA HCFC1 ZBTB11 MYC ZBTB26 KLF1 ESRRA

Genomic Location for ARHGAP4 Gene

Chromosome:
X
Start:
153,907,367 bp from pter
End:
153,934,999 bp from pter
Size:
27,633 bases
Orientation:
Minus strand

Genomic View for ARHGAP4 Gene

Genes around ARHGAP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGAP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGAP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGAP4 Gene

Proteins for ARHGAP4 Gene

  • Protein details for ARHGAP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P98171-RHG04_HUMAN
    Recommended name:
    Rho GTPase-activating protein 4
    Protein Accession:
    P98171
    Secondary Accessions:
    • Q14144
    • Q86UY3

    Protein attributes for ARHGAP4 Gene

    Size:
    946 amino acids
    Molecular mass:
    105026 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for ARHGAP4 Gene

    Alternative splice isoforms for ARHGAP4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGAP4 Gene

Post-translational modifications for ARHGAP4 Gene

  • Ubiquitination at Lys 443
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ARHGAP4 Gene

Domains & Families for ARHGAP4 Gene

Suggested Antigen Peptide Sequences for ARHGAP4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P98171

UniProtKB/Swiss-Prot:

RHG04_HUMAN :
  • Contains 1 F-BAR domain.
Domain:
  • Contains 1 F-BAR domain.
  • Contains 1 Rho-GAP domain.
  • Contains 1 SH3 domain.
genes like me logo Genes that share domains with ARHGAP4: view

Function for ARHGAP4 Gene

Molecular function for ARHGAP4 Gene

GENATLAS Biochemistry:
Rho GTPase activating protein 4,155kDa,aplysia related,involved in signal transduction
UniProtKB/Swiss-Prot Function:
Inhibitory effect on stress fiber organization. May down-regulate Rho-like GTPase in hematopoietic cells.

Gene Ontology (GO) - Molecular Function for ARHGAP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005070 SH3/SH2 adaptor activity TAS 8570618
GO:0005085 guanyl-nucleotide exchange factor activity TAS --
GO:0005089 Rho guanyl-nucleotide exchange factor activity TAS --
GO:0005096 GTPase activator activity TAS --
GO:0005515 protein binding IPI 16417406
genes like me logo Genes that share ontologies with ARHGAP4: view
genes like me logo Genes that share phenotypes with ARHGAP4: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ARHGAP4 Gene

Localization for ARHGAP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGAP4 Gene

Cytoplasm. Note=Just below the plasma membrane.

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 ARHGAP4 gene
Compartment Confidence
cytosol 5
nucleus 4
golgi apparatus 3
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for ARHGAP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,TAS --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol TAS --
GO:0005874 microtubule IEA --
GO:0030426 growth cone IEA --
genes like me logo Genes that share ontologies with ARHGAP4: view

Pathways & Interactions for ARHGAP4 Gene

genes like me logo Genes that share pathways with ARHGAP4: view

Pathways by source for ARHGAP4 Gene

1 GeneTex pathway for ARHGAP4 Gene
1 BioSystems pathway for ARHGAP4 Gene
3 Reactome pathways for ARHGAP4 Gene
3 Qiagen pathways for ARHGAP4 Gene

Interacting Proteins for ARHGAP4 Gene

Gene Ontology (GO) - Biological Process for ARHGAP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization TAS 8570618
GO:0007165 signal transduction IEA --
GO:0007266 Rho protein signal transduction TAS 8570618
GO:0007399 nervous system development IEA --
GO:0009967 positive regulation of signal transduction IEA --
genes like me logo Genes that share ontologies with ARHGAP4: view

No data available for SIGNOR curated interactions for ARHGAP4 Gene

Drugs & Compounds for ARHGAP4 Gene

(1) Drugs for ARHGAP4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for ARHGAP4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ARHGAP4: view

Transcripts for ARHGAP4 Gene

Unigene Clusters for ARHGAP4 Gene

Rho GTPase activating protein 4:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGAP4 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b · 10c · 10d ^ 11a · 11b ^ 12 ^ 13a · 13b ^
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - -
SP5:
SP6: - - -
SP7:
SP8:
SP9: - - -
SP10: - - - -
SP11: - - - -
SP12: - -
SP13:
SP14:
SP15:
SP16: -
SP17:
SP18:

ExUns: 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25 ^ 26a · 26b
SP1: - - - -
SP2: - - - -
SP3: - - - - - - -
SP4:
SP5: - - - -
SP6:
SP7: - - -
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

Relevant External Links for ARHGAP4 Gene

GeneLoc Exon Structure for
ARHGAP4
ECgene alternative splicing isoforms for
ARHGAP4

Expression for ARHGAP4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARHGAP4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ARHGAP4 Gene

This gene is overexpressed in Whole Blood (x16.4) and Spleen (x7.1).

Protein differential expression in normal tissues from HIPED for ARHGAP4 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (19.3), Lymph node (19.3), and Monocytes (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARHGAP4 Gene



Protein tissue co-expression partners for ARHGAP4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ARHGAP4 Gene:

ARHGAP4

SOURCE GeneReport for Unigene cluster for ARHGAP4 Gene:

Hs.701324

mRNA Expression by UniProt/SwissProt for ARHGAP4 Gene:

P98171-RHG04_HUMAN
Tissue specificity: Predominantly in hematopoietic cells (spleen, thymus and leukocytes); low levels in placenta, lung and various fetal tissues.
genes like me logo Genes that share expression patterns with ARHGAP4: view

Primer Products

Orthologs for ARHGAP4 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARHGAP4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARHGAP4 34 35
  • 99.66 (n)
dog
(Canis familiaris)
Mammalia ARHGAP4 34 35
  • 87.92 (n)
cow
(Bos Taurus)
Mammalia ARHGAP4 34 35
  • 85.15 (n)
rat
(Rattus norvegicus)
Mammalia Arhgap4 34
  • 81.34 (n)
mouse
(Mus musculus)
Mammalia Arhgap4 34 16 35
  • 80.7 (n)
oppossum
(Monodelphis domestica)
Mammalia ARHGAP4 35
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARHGAP4 35
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARHGAP4 35
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgap4 34
  • 57.7 (n)
zebrafish
(Danio rerio)
Actinopterygii arhgap4b 34 35
  • 56.33 (n)
arhgap4a 35
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F12F6.5 36
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 32 (a)
OneToMany
Species where no ortholog for ARHGAP4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ARHGAP4 Gene

ENSEMBL:
Gene Tree for ARHGAP4 (if available)
TreeFam:
Gene Tree for ARHGAP4 (if available)

Paralogs for ARHGAP4 Gene

Variants for ARHGAP4 Gene

Sequence variations from dbSNP and Humsavar for ARHGAP4 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1042856 -- 153,910,967(-) TATCG(G/T)GTGCC reference, missense
rs10710691 -- 153,911,275(+) TTTTT(-/T)GAGAC intron-variant
rs111265666 -- 153,915,476(+) GAGGC(A/G)GGTGG intron-variant
rs111513434 -- 153,914,612(+) GAATC(C/G)CTTGA intron-variant
rs111653090 -- 153,909,471(+) GAGGC(C/T)CTCGG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ARHGAP4 Gene

Variant ID Type Subtype PubMed ID
nsv469867 CNV loss 16826518
esv33199 CNV gain+loss 17666407

Variation tolerance for ARHGAP4 Gene

Residual Variation Intolerance Score: 36.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.88; 59.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ARHGAP4 Gene

Human Gene Mutation Database (HGMD)
ARHGAP4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGAP4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGAP4 Gene

Disorders for ARHGAP4 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ARHGAP4 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
diabetes insipidus, nephrogenic
  • nephrogenic diabetes insipidus
diabetes insipidus
masa syndrome
  • crash syndrome
impaired renal function disease
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ARHGAP4

Genetic Association Database (GAD)
ARHGAP4
Human Genome Epidemiology (HuGE) Navigator
ARHGAP4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARHGAP4
genes like me logo Genes that share disorders with ARHGAP4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARHGAP4 Gene

Publications for ARHGAP4 Gene

  1. An X chromosome-linked gene encoding a protein with characteristics of a rhoGAP predominantly expressed in hematopoietic cells. (PMID: 8570618) Tribioli C. … Pelicci P.-G. (Proc. Natl. Acad. Sci. U.S.A. 1996) 2 3 4 22 64
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  3. Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genes. (PMID: 18489790) Fujimoto M. … Noguchi E. (BMC Med. Genet. 2008) 3 22 64
  4. FNBP2 gene on human chromosome 1q32.1 encodes ARHGAP family protein with FCH, FBH, RhoGAP and SH3 domains. (PMID: 12736724) Katoh M. … Katoh M. (Int. J. Mol. Med. 2003) 3 22 64
  5. Two novel types of contiguous gene deletion of the AVPR2 and ARHGAP4 genes in unrelated Japanese kindreds with nephrogenic diabetes insipidus. (PMID: 11754100) Demura M. … Mabuchi H. (Hum. Mutat. 2002) 3 22 64

Products for ARHGAP4 Gene

Sources for ARHGAP4 Gene

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