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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
  • COLLYBISTIN 3 4
  • KIAA0424 4 6
  • EIEE8 3 6
  • PEM2 3 6
  • Rho Guanine Nucleotide Exchange Factor 9 3
  • HPEM-2 Collybistin 3
  • Collybistin 2
  • HPEM-2 3
  • ARHDH9 4
  • PEM-2 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 FGFR and RhoGDI Pathway. GO annotations related to this gene include phospholipid binding and 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

Start:
63,634,967 bp from pter
End:
63,809,274 bp from pter
Size:
174,308 bases
Orientation:
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:
    O43307-ARHG9_HUMAN
    Recommended name:
    Rho guanine nucleotide exchange factor 9
    Protein Accession:
    O43307
    Secondary Accessions:
    • A8K1S8
    • B4DHC7
    • F8W7P8
    • Q5JSL6

    Protein attributes for ARHGEF9 Gene

    Size:
    516 amino acids
    Molecular mass:
    60982 Da
    Quaternary structure:
    • Interacts with GPHN
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

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 for ARHGEF9 Gene

Gene Families for ARHGEF9 Gene

HGNC:
  • ARHGEF :Rho guanine nucleotide exchange factors
  • PLEKH :Pleckstrin homology (PH) domain containing

Protein Domains for ARHGEF9 Gene

Graphical View of Domain Structure for InterPro Entry

O43307

UniProtKB/Swiss-Prot:

ARHG9_HUMAN :
  • O43307
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

Phenotypes for ARHGEF9 Gene

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 Products

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) , miRNA , Transcription Factor Targeting and HOMER Transcription for ARHGEF9 Gene

Localization for ARHGEF9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGEF9 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ARHGEF9 Gene COMPARTMENTS Subcellular localization image for ARHGEF9 gene
Compartment Confidence
cytosol 4
cytoskeleton 1
mitochondrion 1
peroxisome 1
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 for ARHGEF9 Gene

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

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 --
GO:0043065 positive regulation of apoptotic process TAS --
genes like me logo Genes that share ontologies with ARHGEF9: view

Compounds for ARHGEF9 Gene

(3) HMDB Compounds for ARHGEF9 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine diphosphate
  • 5'-GDP
146-91-8
Guanosine monophosphate
  • 5'-GMP
85-32-5
Guanosine triphosphate
  • 5'-GTP
86-01-1
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

miRNA Products

Inhibitory RNA Products

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

Primer Products

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
SP1:
SP2: - -

Relevant External Links for ARHGEF9 Gene

GeneLoc Exon Structure for
ARHGEF9
ECgene alternative splicing isoforms for
ARHGEF9

Expression for ARHGEF9 Gene

mRNA expression in normal human tissues for ARHGEF9 Gene

Protein differential expression in normal tissues for ARHGEF9 Gene

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

Integrated Proteomics: protein expression 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

O43307-ARHG9_HUMAN
Tissue specificity: Detected in brain. Detected at low levels in heart.
genes like me logo Genes that share expressions with ARHGEF9: view

Expression partners for ARHGEF9 Gene

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
cow
(Bos Taurus)
Mammalia LOC537718 35
  • 94.61 (n)
  • 99.42 (a)
ARHGEF9 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARHGEF9 35
  • 95.2 (n)
  • 99.22 (a)
ARHGEF9 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arhgef9 35
  • 93.02 (n)
  • 98.45 (a)
Arhgef9 16
Arhgef9 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ARHGEF9 35
  • 99.68 (n)
  • 99.61 (a)
ARHGEF9 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arhgef9 35
  • 92.97 (n)
  • 98.02 (a)
oppossum
(Monodelphis domestica)
Mammalia ARHGEF9 36
  • 41 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARHGEF9 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARHGEF9 35
  • 84.15 (n)
  • 94.15 (a)
ARHGEF9 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 81 (a)
OneToMany
-- 36
  • 85 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgef9 35
  • 80.86 (n)
  • 95.14 (a)
zebrafish
(Danio rerio)
Actinopterygii arhgef9b 35
  • 76.11 (n)
  • 85.54 (a)
arhgef9a 36
  • 79 (a)
OneToMany
arhgef9b 36
  • 84 (a)
OneToMany
arhgef9b 36
  • 85 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3922 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7470 36
  • 29 (a)
OneToMany
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

ENSEMBL:
Gene Tree for ARHGEF9 (if available)
TreeFam:
Gene Tree for ARHGEF9 (if available)

Paralogs for ARHGEF9 Gene

Selected 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
rs867576 -- 63,785,427(-) CTTGG(G/T)GGGGG utr-variant-5-prime, upstream-variant-2KB
rs871109 -- 63,767,790(+) GGCAG(C/T)GTTCA intron-variant
rs945057 -- 63,732,509(+) CTTGG(C/T)CCTTA intron-variant
rs1048041 -- 63,635,466(-) TGTCC(C/T)GACAG utr-variant-3-prime
rs1048044 -- 63,635,465(-) GTCCT(A/G)ACAGC utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv1584074 OTHER Inversion 17803354

Relevant External Links for ARHGEF9 Gene

HapMap Linkage Disequilibrium report
ARHGEF9
Human Gene Mutation Database (HGMD)
ARHGEF9

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

Disorders for ARHGEF9 Gene

(1) OMIM Diseases for ARHGEF9 Gene (300429)

UniProtKB/Swiss-Prot

ARHG9_HUMAN
  • 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.

(1) University of Copenhagen DISEASES for ARHGEF9 Gene

(1) Novoseek inferred disease relationships for ARHGEF9 Gene

Disease -log(P) Hits PubMed IDs
hyperekplexia 95.2 2

Relevant External Links for ARHGEF9

GeneTests
ARHGEF9
GeneReviews
ARHGEF9
Genetic Association Database (GAD)
ARHGEF9
Human Genome Epidemiology (HuGE) Navigator
ARHGEF9
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 GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering. (PMID: 15215304) Harvey K. … Harvey R.J. (J. Neurosci. 2004) 3 4 23
  2. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9455477) Ishikawa K. … Ohara O. (DNA Res. 1997) 2 3 4
  3. Identification and characterization of hPEM-2, a guanine nucleotide exchange factor specific for Cdc42. (PMID: 10559246) Reid T. … Collard J.G. (J. Biol. Chem. 1999) 2 3 4
  4. 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) 3 23
  5. Mutation of ARHGAP9 in patients with coronary spastic angina. (PMID: 19911011) Takefuji M. … Kaibuchi K. (J. Hum. Genet. 2010) 3 48

Products for ARHGEF9 Gene

Sources for ARHGEF9 Gene

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