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Aliases for ARHGAP9 Gene

Aliases for ARHGAP9 Gene

  • Rho GTPase Activating Protein 9 2 3 5
  • Rho-Type GTPase-Activating Protein 9 3 4
  • Rho GTPase-Activating Protein 9 3
  • RGL1 3
  • 10C 3

External Ids for ARHGAP9 Gene

Previous GeneCards Identifiers for ARHGAP9 Gene

  • GC12M059326
  • GC12M058009
  • GC12M057582
  • GC12M056152
  • GC12M057866
  • GC12M054903

Summaries for ARHGAP9 Gene

Entrez Gene Summary for ARHGAP9 Gene

  • This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for ARHGAP9 Gene

ARHGAP9 (Rho GTPase Activating Protein 9) is a Protein Coding gene. Diseases associated with ARHGAP9 include Retinitis Pigmentosa 18. Among its related pathways are Innate Immune System and G-protein signaling_Regulation of RAC1 activity. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and phosphatidylinositol-3,4,5-trisphosphate binding. An important paralog of this gene is ARHGAP12.

UniProtKB/Swiss-Prot for ARHGAP9 Gene

  • GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Has a substantial GAP activity toward CDC42 and RAC1 and less toward RHOA. Has a role in regulating adhesion of hematopoietic cells to the extracellular matrix. Binds phosphoinositides, and has the highest affinity for phosphatidylinositol 3,4,5-trisphosphate, followed by phosphatidylinositol 3,4-bisphosphate and phosphatidylinositol 4,5-bisphosphate.

Gene Wiki entry for ARHGAP9 Gene

Additional gene information for ARHGAP9 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARHGAP9 Gene

Genomics for ARHGAP9 Gene

GeneHancer (GH) Regulatory Elements for ARHGAP9 Gene

Promoters and enhancers for ARHGAP9 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
GH12I057475 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 579.6 +9.9 9918 6.8 HDGF SMAD1 RB1 NFRKB ZBTB40 ZNF766 EGR1 ZNF143 ATF7 ETV6 ARHGAP9 DCTN2 NEMP1 MARS ATP23
GH12I057487 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.2 151 2.9 HDGF PKNOX1 SMAD1 ARID4B SIN3A FEZF1 DMAP1 YY1 POLR2B ZNF766 ARHGAP9 MARS BAZ2A NEMP1 MBD6 RN7SL809P PRIM1 EEF1AKMT3 CTDSP2 CDK4
GH12I057733 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE 22.9 -249.6 -249642 9.6 HDGF ARID4B SIN3A ZNF213 E2F8 ZNF143 ZNF548 KLF13 SP3 REST AGAP2 TSPAN31 TSFM NEMP1 ARHGAP9 ATP23 CTDSP2 EEF1AKMT3 ENSG00000224713 CDK4
GH12I057457 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 17.9 +28.3 28324 5.9 HDGF PKNOX1 CLOCK FOXA2 SMAD1 ARNT ARID4B NEUROD1 SIN3A FEZF1 GLI1 NEMP1 BAZ2A ARHGAP9 ZBTB39 ENSG00000224713 ARHGEF25 PRIM1 MBD6 SLC26A10
GH12I057242 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 15.1 +245.6 245619 2 PKNOX1 ATF1 SIN3A ZNF2 ZNF48 GLIS2 GATA2 ZNF143 KLF7 ZNF548 GC12P057242 BAZ2A NEMP1 CTDSP2 RN7SL809P CDK4 STAT2 EEF1AKMT3 ARHGAP9 OS9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ARHGAP9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ARHGAP9 gene promoter:

Genomic Locations for ARHGAP9 Gene

Genomic Locations for ARHGAP9 Gene
chr12:57,472,255-57,488,814
(GRCh38/hg38)
Size:
16,560 bases
Orientation:
Minus strand
chr12:57,866,038-57,882,597
(GRCh37/hg19)

Genomic View for ARHGAP9 Gene

Genes around ARHGAP9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGAP9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGAP9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGAP9 Gene

Proteins for ARHGAP9 Gene

  • Protein details for ARHGAP9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BRR9-RHG09_HUMAN
    Recommended name:
    Rho GTPase-activating protein 9
    Protein Accession:
    Q9BRR9
    Secondary Accessions:
    • B4DVI3
    • E9PDX9
    • Q8NAF3
    • Q8TCJ3
    • Q8WYR0
    • Q96EZ2
    • Q96S74

    Protein attributes for ARHGAP9 Gene

    Size:
    750 amino acids
    Molecular mass:
    83260 Da
    Quaternary structure:
    • Interacts with FASLG.

    Three dimensional structures from OCA and Proteopedia for ARHGAP9 Gene

    Alternative splice isoforms for ARHGAP9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGAP9 Gene

Post-translational modifications for ARHGAP9 Gene

  • Ubiquitination at posLast=333333, posLast=522522, and posLast=588588
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ARHGAP9 Gene

Domains & Families for ARHGAP9 Gene

Gene Families for ARHGAP9 Gene

Suggested Antigen Peptide Sequences for ARHGAP9 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BRR9

UniProtKB/Swiss-Prot:

RHG09_HUMAN :
  • A region including the PH domain and partially overlapping with the Rho-GAP domain mediates interaction with phosphoinositides.
Domain:
  • A region including the PH domain and partially overlapping with the Rho-GAP domain mediates interaction with phosphoinositides.
genes like me logo Genes that share domains with ARHGAP9: view

Function for ARHGAP9 Gene

Molecular function for ARHGAP9 Gene

UniProtKB/Swiss-Prot Function:
GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Has a substantial GAP activity toward CDC42 and RAC1 and less toward RHOA. Has a role in regulating adhesion of hematopoietic cells to the extracellular matrix. Binds phosphoinositides, and has the highest affinity for phosphatidylinositol 3,4,5-trisphosphate, followed by phosphatidylinositol 3,4-bisphosphate and phosphatidylinositol 4,5-bisphosphate.

Phenotypes From GWAS Catalog for ARHGAP9 Gene

Gene Ontology (GO) - Molecular Function for ARHGAP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity TAS --
GO:0005515 protein binding IPI 25416956
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding IDA 17339315
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with ARHGAP9: view
genes like me logo Genes that share phenotypes with ARHGAP9: view

Animal Model Products

miRNA for ARHGAP9 Gene

miRTarBase miRNAs that target ARHGAP9

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ARHGAP9 Gene

Localization for ARHGAP9 Gene

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 ARHGAP9 gene
Compartment Confidence
cytosol 5
extracellular 4
mitochondrion 2
nucleus 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ARHGAP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005829 cytosol TAS --
GO:0034774 secretory granule lumen TAS --
genes like me logo Genes that share ontologies with ARHGAP9: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for ARHGAP9 Gene

Pathways & Interactions for ARHGAP9 Gene

genes like me logo Genes that share pathways with ARHGAP9: view

Pathways by source for ARHGAP9 Gene

1 GeneGo (Thomson Reuters) pathway for ARHGAP9 Gene

Gene Ontology (GO) - Biological Process for ARHGAP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0043312 neutrophil degranulation TAS --
GO:0043547 positive regulation of GTPase activity IEA --
GO:0051056 regulation of small GTPase mediated signal transduction TAS --
genes like me logo Genes that share ontologies with ARHGAP9: view

No data available for SIGNOR curated interactions for ARHGAP9 Gene

Drugs & Compounds for ARHGAP9 Gene

No Compound Related Data Available

Transcripts for ARHGAP9 Gene

Unigene Clusters for ARHGAP9 Gene

Rho GTPase activating protein 9:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGAP9 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11a ·
SP1: - - - - - - - - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - -
SP4:
SP5: - - - - - - - -
SP6: - - - - -
SP7: - - -
SP8: - - - - -
SP9:
SP10: - - - - - - - - -
SP11: - - - - - - - -
SP12: - - - - - -
SP13: -
SP14: -
SP15: -
SP16:
SP17:
SP18:
SP19:
SP20:
SP21: -

ExUns: 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b · 16c ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21
SP1: - -
SP2: - - -
SP3: - -
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16: - -
SP17:
SP18:
SP19:
SP20:
SP21:

Relevant External Links for ARHGAP9 Gene

GeneLoc Exon Structure for
ARHGAP9
ECgene alternative splicing isoforms for
ARHGAP9

Expression for ARHGAP9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ARHGAP9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ARHGAP9 Gene

This gene is overexpressed in Whole Blood (x32.3) and Spleen (x5.3).

Protein differential expression in normal tissues from HIPED for ARHGAP9 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (20.3), Monocytes (12.2), CD8 Tcells (11.0), Lymph node (7.1), and Blymphocyte (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARHGAP9 Gene



Protein tissue co-expression partners for ARHGAP9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ARHGAP9 Gene:

ARHGAP9

SOURCE GeneReport for Unigene cluster for ARHGAP9 Gene:

Hs.437126

mRNA Expression by UniProt/SwissProt for ARHGAP9 Gene:

Q9BRR9-RHG09_HUMAN
Tissue specificity: Predominantly expressed in peripheral blood leukocytes, spleen, and thymus.

Evidence on tissue expression from TISSUES for ARHGAP9 Gene

  • Spleen(4.8)
  • Intestine(4.4)
  • Lymph node(4.4)
  • Muscle(4.1)
  • Blood(4)
genes like me logo Genes that share expression patterns with ARHGAP9: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ARHGAP9 Gene

Orthologs for ARHGAP9 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARHGAP9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARHGAP9 33 34
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 93 (a)
OneToMany
ARHGAP9 33
  • 86.37 (n)
-- 34
  • 62 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ARHGAP9 33 34
  • 86.59 (n)
mouse
(Mus musculus)
Mammalia Arhgap9 16 34 33
  • 80.53 (n)
rat
(Rattus norvegicus)
Mammalia Arhgap9 33
  • 77.91 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ARHGAP9 34
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARHGAP9 34
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgap9 33
  • 52.4 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100334461 33
  • 57.39 (n)
CABZ01088365.1 34
  • 42 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C38D4.5 35
  • 30 (a)
tag-325 34
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
OneToMany
Species where no ortholog for ARHGAP9 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)
  • oppossum (Monodelphis domestica)
  • 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 ARHGAP9 Gene

ENSEMBL:
Gene Tree for ARHGAP9 (if available)
TreeFam:
Gene Tree for ARHGAP9 (if available)

Paralogs for ARHGAP9 Gene

Variants for ARHGAP9 Gene

Sequence variations from dbSNP and Humsavar for ARHGAP9 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs11540809 uncertain-significance, Charcot-Marie-Tooth disease, axonal, type 2u, Interstitial lung and liver disease 57,488,185(-) C/G/T genic_upstream_transcript_variant, intron_variant
rs11544238 uncertain-significance, Coronary artery spasm 3, susceptibility to 57,476,372(-) A/C/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs117101415 benign, Charcot-Marie-Tooth disease, axonal, type 2u, Interstitial lung and liver disease 57,489,958(-) C/T upstream_transcript_variant
rs199843552 likely-benign, Charcot-Marie-Tooth disease, axonal, type 2u, Interstitial lung and liver disease 57,490,387(-) A/C upstream_transcript_variant
rs200471304 likely-benign, Charcot-Marie-Tooth disease, axonal, type 2u, Interstitial lung and liver disease 57,488,156(-) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ARHGAP9 Gene

Variant ID Type Subtype PubMed ID
dgv2651n54 CNV loss 21841781
esv2759901 CNV gain 17122850
nsv428283 CNV gain 18775914
nsv469411 CNV loss 19166990
nsv482992 CNV gain+loss 15286789
nsv559034 CNV loss 21841781
nsv559035 CNV loss 21841781
nsv819597 CNV gain 19587683
nsv819781 CNV loss 19587683

Variation tolerance for ARHGAP9 Gene

Residual Variation Intolerance Score: 89.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.44; 85.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARHGAP9 Gene

Human Gene Mutation Database (HGMD)
ARHGAP9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGAP9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGAP9 Gene

Disorders for ARHGAP9 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ARHGAP9 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 18
  • rp18
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ARHGAP9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ARHGAP9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARHGAP9 Gene

Publications for ARHGAP9 Gene

  1. Isolation of a novel human gene, ARHGAP9, encoding a rho-GTPase activating protein. (PMID: 11396949) Furukawa Y … Nakamura Y (Biochemical and biophysical research communications 2001) 2 3 4 22 58
  2. Mutation of ARHGAP9 in patients with coronary spastic angina. (PMID: 19911011) Takefuji M … Kaibuchi K (Journal of human genetics 2010) 3 44 58
  3. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PMID: 19807924) Voss M … Janssen O (BMC immunology 2009) 3 4 58
  4. Non-canonical interaction of phosphoinositides with pleckstrin homology domains of Tiam1 and ArhGAP9. (PMID: 17339315) Ceccarelli DF … Sicheri F (The Journal of biological chemistry 2007) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for ARHGAP9 Gene

Sources for ARHGAP9 Gene

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