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Aliases for ARHGEF9 Gene

Aliases for ARHGEF9 Gene

  • Cdc42 Guanine Nucleotide Exchange Factor (GEF) 9 2 3
  • Rac/Cdc42 Guanine Nucleotide Exchange Factor 9 3 4
  • PEM-2 Homolog 3 4
  • HPEM-2 Collybistin 3
  • Collybistin 2
  • KIAA0424 4
  • HPEM-2 3
  • ARHDH9 4
  • EIEE8 3
  • PEM-2 3
  • PEM2 3

External Ids for ARHGEF9 Gene

Previous GeneCards Identifiers for ARHGEF9 Gene

  • GC0XM059065
  • GC0XM060320
  • GC0XM061088
  • GC0XM061722
  • GC0XM061723
  • GC0XM062637
  • GC0XM062771
  • GC0XM056681

Summaries for ARHGEF9 Gene

Entrez Gene Summary for ARHGEF9 Gene

  • The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and other genes. Defects in this gene are a cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]

GeneCards Summary for ARHGEF9 Gene

ARHGEF9 (Cdc42 Guanine Nucleotide Exchange Factor (GEF) 9) is a Protein Coding gene. Diseases associated with ARHGEF9 include epileptic encephalopathy, early infantile, 8 and arhgef9-related hyperekplexia. Among its related pathways are Signaling by GPCR and RhoGDI Pathway. GO annotations related to this gene include Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF7.

UniProtKB/Swiss-Prot for ARHGEF9 Gene

  • Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters.

Gene Wiki entry for ARHGEF9 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARHGEF9 Gene

Genomics for ARHGEF9 Gene

Regulatory Elements for ARHGEF9 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ARHGEF9 Gene

63,634,967 bp from pter
63,809,274 bp from pter
174,308 bases
Minus strand

Genomic View for ARHGEF9 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ARHGEF9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGEF9 Gene

Proteins for ARHGEF9 Gene

  • Protein details for ARHGEF9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Rho guanine nucleotide exchange factor 9
    Protein Accession:
    Secondary Accessions:
    • A8K1S8
    • B4DHC7
    • F8W7P8
    • Q5JSL6

    Protein attributes for ARHGEF9 Gene

    516 amino acids
    Molecular mass:
    60982 Da
    Quaternary structure:
    • Interacts with GPHN
    • Sequence=BAA24854.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ARHGEF9 Gene

    Alternative splice isoforms for ARHGEF9 Gene


neXtProt entry for ARHGEF9 Gene

Proteomics data for ARHGEF9 Gene at MOPED

Post-translational modifications for ARHGEF9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • R&D Systems Antibodies for ARHGEF9 (Collybistin/ARHGEF9)
  • Santa Cruz Biotechnology (SCBT) Antibodies for ARHGEF9

No data available for DME Specific Peptides for ARHGEF9 Gene

Domains & Families for ARHGEF9 Gene

Protein Domains for ARHGEF9 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 DH (DBL-homology) domain.
  • Contains 1 DH (DBL-homology) domain.
  • Contains 1 PH domain.
  • Contains 1 SH3 domain.
genes like me logo Genes that share domains with ARHGEF9: view

Function for ARHGEF9 Gene

Molecular function for ARHGEF9 Gene

UniProtKB/Swiss-Prot Function:
Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters.

Gene Ontology (GO) - Molecular Function for ARHGEF9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with ARHGEF9: view
genes like me logo Genes that share phenotypes with ARHGEF9: view

Animal Models for ARHGEF9 Gene

MGI Knock Outs for ARHGEF9:

Animal Model Products

CRISPR Products

miRNA for ARHGEF9 Gene

miRTarBase miRNAs that target ARHGEF9

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ARHGEF9

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ARHGEF9 Gene

Localization for ARHGEF9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGEF9 Gene


Subcellular locations from

Jensen Localization Image for ARHGEF9 Gene COMPARTMENTS Subcellular localization image for ARHGEF9 gene
Compartment Confidence
cytosol 4
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ARHGEF9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ARHGEF9: view

Pathways & Interactions for ARHGEF9 Gene

genes like me logo Genes that share pathways with ARHGEF9: view

Pathways by source for ARHGEF9 Gene

Gene Ontology (GO) - Biological Process for ARHGEF9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0007268 synaptic transmission TAS --
GO:0034220 ion transmembrane transport TAS --
GO:0035023 regulation of Rho protein signal transduction IEA --
GO:0043065 positive regulation of apoptotic process TAS --
genes like me logo Genes that share ontologies with ARHGEF9: view

No data available for SIGNOR curated interactions for ARHGEF9 Gene

Drugs & Compounds for ARHGEF9 Gene

(3) Drugs for ARHGEF9 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with ARHGEF9: view

Transcripts for ARHGEF9 Gene

Unigene Clusters for ARHGEF9 Gene

Cdc42 guanine nucleotide exchange factor (GEF) 9:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ARHGEF9

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGEF9 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
SP2: - -

Relevant External Links for ARHGEF9 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ARHGEF9 Gene

mRNA expression in normal human tissues for ARHGEF9 Gene

Protein differential expression in normal tissues from HIPED for ARHGEF9 Gene

This gene is overexpressed in Blymphocyte (36.3) and Platelet (25.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ARHGEF9 Gene

SOURCE GeneReport for Unigene cluster for ARHGEF9 Gene Hs.54697

mRNA Expression by UniProt/SwissProt for ARHGEF9 Gene

Tissue specificity: Detected in brain. Detected at low levels in heart.
genes like me logo Genes that share expression patterns with ARHGEF9: view

Protein tissue co-expression partners for ARHGEF9 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ARHGEF9 Gene

Orthologs for ARHGEF9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ARHGEF9 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia LOC537718 35
  • 94.61 (n)
  • 99.42 (a)
  • 91 (a)
(Canis familiaris)
Mammalia ARHGEF9 35
  • 95.2 (n)
  • 99.22 (a)
  • 97 (a)
(Mus musculus)
Mammalia Arhgef9 35
  • 93.02 (n)
  • 98.45 (a)
Arhgef9 16
Arhgef9 36
  • 98 (a)
(Pan troglodytes)
Mammalia ARHGEF9 35
  • 99.68 (n)
  • 99.61 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Arhgef9 35
  • 92.97 (n)
  • 98.02 (a)
(Monodelphis domestica)
Mammalia ARHGEF9 36
  • 41 (a)
(Ornithorhynchus anatinus)
Mammalia ARHGEF9 36
  • 94 (a)
(Gallus gallus)
Aves ARHGEF9 35
  • 84.15 (n)
  • 94.15 (a)
  • 94 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 81 (a)
-- 36
  • 85 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgef9 35
  • 80.86 (n)
  • 95.14 (a)
(Danio rerio)
Actinopterygii arhgef9b 35
  • 76.11 (n)
  • 85.54 (a)
arhgef9a 36
  • 79 (a)
arhgef9b 36
  • 84 (a)
arhgef9b 36
  • 85 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3922 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7470 36
  • 29 (a)
Species with no ortholog for ARHGEF9:
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for ARHGEF9 Gene

Gene Tree for ARHGEF9 (if available)
Gene Tree for ARHGEF9 (if available)

Paralogs for ARHGEF9 Gene

(6) SIMAP similar genes for ARHGEF9 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ARHGEF9: view

Variants for ARHGEF9 Gene

Sequence variations from dbSNP and Humsavar for ARHGEF9 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs140777637 Uncertain significance 63,678,480(+) AAGTG(C/T)TGGTA synonymous-codon, reference
rs142027808 -- 63,640,755(+) AGGGA(C/T)ATTAG intron-variant
rs142095946 -- 63,720,171(+) ACAGT(A/C)TCAAG intron-variant
rs144819062 -- 63,647,173(+) ATCTG(C/T)AAACA intron-variant
rs145146240 -- 63,731,553(+) CTCAG(G/T)TTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ARHGEF9 Gene

Variant ID Type Subtype PubMed ID
esv1584074 OTHER Inversion 17803354

Variation tolerance for ARHGEF9 Gene

Residual Variation Intolerance Score: 70.56% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.42; 9.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ARHGEF9 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGEF9 Gene

Disorders for ARHGEF9 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ARHGEF9 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, NovoSeek, and GeneCards


  • Epileptic encephalopathy, early infantile, 8 (EIEE8) [MIM:300607]: A disorder characterized by hyperekplexia and early infantile epileptic encephalopathy. Neurologic features include exaggerated startle response, seizures, impaired psychomotor development, and mental retardation. Seizures can be provoked by tactile stimulation or extreme emotion. {ECO:0000269 PubMed:15215304, ECO:0000269 PubMed:22612257, ECO:0000269 PubMed:25678704}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ARHGEF9

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ARHGEF9: view

No data available for Genatlas for ARHGEF9 Gene

Publications for ARHGEF9 Gene

  1. The glycinergic system in human startle disease: a genetic screening approach. (PMID: 20407582) Davies J.S. … Rees M.I. (Front Mol Neurosci 2010) 23 67
  2. A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation. (PMID: 18615734) Kalscheuer V.M. … Harvey R.J. (Hum. Mutat. 2009) 23 67
  3. A critical role for glycine transporters in hyperexcitability disorders. (PMID: 18946534) Harvey R.J. … Harvey K. (Front Mol Neurosci 2008) 23 67
  4. ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal. (PMID: 17893116) Marco E.J. … Sherr E.H. (J. Med. Genet. 2008) 23 67
  5. The genetics of hyperekplexia: more than startle! (PMID: 18707791) Harvey R.J. … Rees M.I. (Trends Genet. 2008) 23 67

Products for ARHGEF9 Gene

Sources for ARHGEF9 Gene

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