Aliases for ARHGEF9 Gene
Aliases for ARHGEF9 Gene
External Ids for ARHGEF9 Gene
- HGNC: 14561
- Entrez Gene: 23229
- Ensembl: ENSG00000131089
- OMIM: 300429
- UniProtKB: O43307
Previous GeneCards Identifiers for ARHGEF9 Gene
- GC0XM059065
- GC0XM060320
- GC0XM061088
- GC0XM061722
- GC0XM061723
- GC0XM062637
- GC0XM062771
- GC0XM056681
Summaries 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. This brain-specific protein also acts as an adaptor protein for the recruitment of gephyrin and together these proteins facilitate receceptor recruitement in GABAnergic and glycinergic synapses. Defects in this gene are the cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy, as well as several other types of cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
GeneCards Summary for ARHGEF9 Gene
ARHGEF9 (Cdc42 Guanine Nucleotide Exchange Factor 9) is a Protein Coding gene. Diseases associated with ARHGEF9 include Epileptic Encephalopathy, Early Infantile, 8 and Hyperekplexia. Among its related pathways are Ectoderm Differentiation and p75 NTR receptor-mediated signalling. Gene Ontology (GO) annotations related to this gene include Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is SPATA13.
UniProtKB/Swiss-Prot for ARHGEF9 Gene
-
Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters.
Additional gene information for ARHGEF9 Gene
- Monarch Initiative
- Search for ARHGEF9 at DataMed
- Search for ARHGEF9 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARHGEF9 Gene
Genomics for ARHGEF9 Gene
GeneHancer (GH) Regulatory Elements for ARHGEF9 Gene
Promoters and enhancers for ARHGEF9 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH0XI063751 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE | 562.1 | +55.2 | 55178 | 4.2 | PKNOX1 ZNF76 BATF IRF4 RAD21 YY1 ZNF335 GLIS2 ZNF366 ZNF350 | ARHGEF9 MIR1468 BTF3P8 ARHGEF9-IT1 | |
| GH0XI063781 | Promoter/Enhancer | 1.5 | EPDnew Ensembl ENCODE | 550.3 | +25.2 | 25234 | 4.5 | ZNF316 POLR2A MAFG MAFK | ARHGEF9 MIR1468 GC0XP063767 | |
| GH0XI063761 | Enhancer | 0.6 | ENCODE | 13.5 | +47.4 | 47428 | 0.8 | CTCF ZBED1 TRIM22 RAD21 ATF2 BCL11A IKZF1 ETV6 BCLAF1 RUNX3 | MIR1468 ARHGEF9 BTF3P8 ARHGEF9-IT1 | |
| GH0XI063745 | Enhancer | 0.5 | Ensembl ENCODE | 12.3 | +62.4 | 62431 | 2.7 | RUNX3 | MIR1468 ARHGEF9 BTF3P8 ARHGEF9-IT1 | |
| GH0XI063750 | Enhancer | 0.2 | ENCODE | 12 | +58.5 | 58519 | 0.9 | MIR1468 ARHGEF9 BTF3P8 ARHGEF9-IT1 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ARHGEF9 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ARHGEF9 gene promoter:
Regulatory Element Products
Genomic Locations for ARHGEF9 Gene
Genomic Locations for ARHGEF9 Gene
- chrX:63,634,967-63,809,274
- (GRCh38/hg38)
- Size:
- 174,308 bases
- Orientation:
- Minus strand
- chrX:62,854,847-63,005,426
- (GRCh37/hg19)
Genomic View for ARHGEF9 Gene
Genes around ARHGEF9 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xq11.2 by Ensembl
- Xq11.1 by Entrez Gene
- Xq11.1 by HGNC
ARHGEF9 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for ARHGEF9 Gene
Post-translational modifications for ARHGEF9 Gene
Other Protein References for ARHGEF9 Gene
- ENSEMBL proteins:
-
- ENSP00000364004
- ENSP00000364006
- ENSP00000364012
- ENSP00000399994
- ENSP00000485083
- ENSP00000485086
- ENSP00000485144
- ENSP00000485160
- ENSP00000485282
- ENSP00000485327
- ENSP00000485369
- ENSP00000485559
- ENSP00000485626
- ENSP00000485633
- ENSP00000489637
- ENSP00000489670
- ENSP00000489853
- ENSP00000489862
- ENSP00000490005
- ENSP00000490063
- ENSP00000490123
- ENSP00000490269
- ENSP00000490408
- ENSP00000490410
- ENSP00000490459
- ENSP00000490667
- ENSP00000490679
- ENSP00000490691
- ENSP00000490693
- ENSP00000490940
- ENSP00000492318
- ENSP00000253401
- REFSEQ proteins:
-
- NP_001166950.1
- NP_001166951.1
- NP_001317424.1
- NP_001340850.1
- NP_001340851.1
- NP_001340852.1
- NP_001340853.1
- NP_001340855.1
- NP_001340856.1
- NP_001340857.1
- NP_056000.1
- XP_005262306.1
- XP_005262307.1
- XP_005262308.1
- XP_005262309.1
- XP_011529192.1
- XP_011529194.1
- XP_016884852.1
- XP_016884853.1
- XP_016884854.1
- XP_016884855.1
- XP_016884856.1
- XP_016884857.1
- XP_016884858.1
- XP_016884859.1
- XP_016884860.1
- XP_016884861.1
- XP_016884862.1
- XP_016884863.1
- XP_016884864.1
- XP_016884865.1
- XP_016884866.1
- XP_016884867.1
- XP_016884868.1
- XP_016884869.1
Antibody Products
- R&D Systems Antibodies for ARHGEF9 (Collybistin/ARHGEF9)
-
Custom Antibody ServicesOriGene Antibodies for ARHGEF9
- Novus Biologicals Antibodies for ARHGEF9
-
Abcam antibodies for ARHGEF9
- Invitrogen Antibodies for ARHGEF9
- antibodies-online: Search results for 55 available Arhgef9 Antibodies ranked by validation data
- Compare Top Arhgef9 Antibodies
-
Recommended
- 37 WB Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 1 IP Antibody (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 11 WB Antibodies (anti-mouse)
- 1 IP Antibody (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
- 1 IHC Antibody (anti-rat)
- 17 WB Antibodies (anti-rat)
- 1 IHC Antibody (anti-human)
- 1 IF Antibody (anti-human)
- GeneTex ARHGEF9 antibody for ARHGEF9
-
Santa Cruz Biotechnology (SCBT) Antibodies for ARHGEF9
Protein Products
-
OriGene Purified Proteins for ARHGEF9
- Search Origene for MassSpec and Protein Over-expression Lysates for ARHGEF9
- Origene Custom Protein Services for ARHGEF9
- Search GeneTex for Proteins for ARHGEF9
-
Abcam proteins for ARHGEF9
Assay Products
No data available for DME Specific Peptides for ARHGEF9 Gene
Domains & Families for ARHGEF9 Gene
Gene Families for ARHGEF9 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for ARHGEF9 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ARHGEF9 Gene
- GenScript: Design optimal peptide antigens:
-
- Rac/Cdc42 guanine nucleotide exchange factor 9 (ARHG9_HUMAN)
- cDNA FLJ59516, highly similar to Homo sapiens Cdc42 guanine nucleotide exchange factor (GEF) 9 (ARHGEF9), mRNA (B1AMR3_HUMAN)
- cDNA FLJ50145, highly similar to Homo sapiens Cdc42 guanine nucleotide exchange factor (GEF) 9 (ARHGEF9), mRNA (B4DGQ8_HUMAN)
- cDNA FLJ50765, highly similar to Homo sapiens Cdc42 guanine nucleotide exchange factor (GEF) 9 (ARHGEF9), mRNA (B4DHC7_HUMAN)
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for ARHGEF9 Gene
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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005085 | guanyl-nucleotide exchange factor activity | TAS | -- |
| GO:0005089 | Rho guanyl-nucleotide exchange factor activity | IEA,TAS | -- |
Phenotypes for ARHGEF9 Gene
- MGI mutant phenotypes for ARHGEF9:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for ARHGEF9:
Animal Models for ARHGEF9 Gene
- MGI Knock Outs for ARHGEF9:
-
- Arhgef9 tm1.1Betz
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ARHGEF9
-
-
ViGene Biosciences lentiviral particle packaged cDNA for ARHGEF9 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ARHGEF9 gene
- Search ViGene Biosciences for ARHGEF9
CRISPR Products
-
OriGene CRISPR knockouts for ARHGEF9
- genomics-online: gRNA clones - Search results for 97 available Arhgef9 gene related products
- Overview of 97 available Arhgef9 gene related products
-
Recommended
- Applied Biological Materials CRISPR for ARHGEF9
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ARHGEF9
- GenScript: Design CRISPR guide RNA sequences for ARHGEF9
miRNA for ARHGEF9 Gene
- miRTarBase miRNAs that target ARHGEF9
-
- hsa-mir-574-5p (MIRT608455)
- hsa-mir-6867-5p (MIRT608456)
- hsa-mir-4711-3p (MIRT608457)
- hsa-mir-223-5p (MIRT784262)
- hsa-mir-297 (MIRT784379)
- hsa-mir-3177-5p (MIRT784741)
- hsa-mir-511-3p (MIRT787104)
- hsa-mir-567 (MIRT787715)
- hsa-mir-6817-3p (MIRT788917)
- hsa-mir-6873-3p (MIRT789243)
- hsa-mir-7110-3p (MIRT789408)
miRNA Products
- Search ViGene Biosciences for ARHGEF9
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for ARHGEF9
- Browse OriGene Inhibitory RNA Products For ARHGEF9
- genomics-online: shRNA clones - Search results for 97 available Arhgef9 gene related products
- Overview of 97 available Arhgef9 gene related products
-
Recommended
-
ViGene Biosciences ready-to-package AAV shRNAs for ARHGEF9 gene
Clone Products
-
OriGene ORF clones in human for ARHGEF9
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- VectorBuilder custom plasmid, inducible vectors for ARHGEF9
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ARHGEF9
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for 97 available Arhgef9 gene related products
- Overview of 97 available Arhgef9 gene related products
-
Recommended
- orf clones - Search results for 97 available Arhgef9 gene related products
- Overview of 97 available Arhgef9 gene related products
-
Recommended
- Applied Biological Materials Clones for ARHGEF9
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for ARHGEF9
-
ViGene Biosciences adenoviral particle packaged cDNA for ARHGEF9 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for ARHGEF9 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ARHGEF9 gene
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for ARHGEF9 Gene
Localization for ARHGEF9 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ARHGEF9 Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| plasma membrane | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS,IDA | -- |
Pathways & Interactions for ARHGEF9 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | p75 NTR receptor-mediated signalling |
.36
|
|
| 2 | GPCR Pathway |
.73
.62
|
|
| 3 | G-AlphaQ Signaling | ||
| 4 | Signaling by GPCR | ||
| 5 | Transmission across Chemical Synapses |
.62
|
|
Pathways by source for ARHGEF9 Gene
2 BioSystems pathways for ARHGEF9 Gene
18 Reactome pathways for ARHGEF9 Gene
21 Qiagen pathways for ARHGEF9 Gene
Interacting Proteins for ARHGEF9 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007186 | G-protein coupled receptor signaling pathway | TAS | -- |
| GO:0035023 | regulation of Rho protein signal transduction | IEA | -- |
| GO:0043065 | positive regulation of apoptotic process | TAS | -- |
| GO:0051056 | regulation of small GTPase mediated signal transduction | TAS | -- |
| GO:0065009 | regulation of molecular function | IEA | -- |
No data available for SIGNOR curated interactions for ARHGEF9 Gene
Transcripts for ARHGEF9 Gene
mRNA/cDNA for ARHGEF9 Gene
- (35) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (179) Selected AceView cDNA sequences:
- (38) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ARHGEF9 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ARHGEF9
- genomics-online: gRNA clones - Search results for 97 available Arhgef9 gene related products
- Overview of 97 available Arhgef9 gene related products
-
Recommended
- Applied Biological Materials CRISPR for ARHGEF9
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ARHGEF9
- GenScript: Design CRISPR guide RNA sequences for ARHGEF9
miRNA Products
- Search ViGene Biosciences for ARHGEF9
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for ARHGEF9
- Browse OriGene Inhibitory RNA Products For ARHGEF9
- genomics-online: shRNA clones - Search results for 97 available Arhgef9 gene related products
- Overview of 97 available Arhgef9 gene related products
-
Recommended
-
ViGene Biosciences ready-to-package AAV shRNAs for ARHGEF9 gene
Clone Products
-
OriGene ORF clones in human for ARHGEF9
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- VectorBuilder custom plasmid, inducible vectors for ARHGEF9
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ARHGEF9
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for 97 available Arhgef9 gene related products
- Overview of 97 available Arhgef9 gene related products
-
Recommended
- orf clones - Search results for 97 available Arhgef9 gene related products
- Overview of 97 available Arhgef9 gene related products
-
Recommended
- Applied Biological Materials Clones for ARHGEF9
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||
| SP2: | - | - |
Expression 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, PaxDb, and MOPED for ARHGEF9 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of ARHGEF9 Gene:
ARHGEF9SOURCE GeneReport for Unigene cluster for ARHGEF9 Gene:
Hs.54697mRNA Expression by UniProt/SwissProt for ARHGEF9 Gene:
O43307-ARHG9_HUMAN
Tissue specificity:
Detected in brain. Detected at low levels in heart.
Evidence on tissue expression from TISSUES for ARHGEF9 Gene
- Nervous system(4.9)
- Eye(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ARHGEF9 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
Regions:
Head and neck:
- brain
- head
General:
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for ARHGEF9
- genomics-online: primer clones - Search results for 97 available Arhgef9 gene related products
- Overview of 97 available Arhgef9 gene related products
-
Recommended
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ARHGEF9 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ARHGEF9 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | LOC537718 33 |
|
||
| ARHGEF9 34 |
|
OneToOne | |||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ARHGEF9 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Arhgef9 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Arhgef9 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ARHGEF9 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ARHGEF9 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | arhgef9 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | arhgef9b 34 34 |
|
OneToMany | |
| arhgef9a 34 |
|
OneToMany | |||
| LOC100334379 33 |
|
||||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.7470 34 |
|
OneToMany | |
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.3922 33 |
|
- Species where no ortholog for ARHGEF9 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)
- 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)
Paralogs for ARHGEF9 Gene
Paralogs for ARHGEF9 Gene
(6) SIMAP similar genes for ARHGEF9 Gene using alignment to 4 proteins:
Variants for ARHGEF9 Gene
| SNP ID | Clin | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs121918361 | pathogenic, Early infantile epileptic encephalopathy 8, Epileptic encephalopathy, early infantile, 8 (EIEE8) [MIM:300607] | 63,724,557(-) | C/G | 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant | |
| rs138198839 | uncertain-significance, likely-benign, not specified, Early infantile epileptic encephalopathy 8 | 63,706,288(-) | G/A | coding_sequence_variant, synonymous_variant | |
| rs143490560 | likely-benign, benign, not specified, Early infantile epileptic encephalopathy 8 | 63,674,044(-) | G/C | coding_sequence_variant, missense_variant | |
| rs150129110 | likely-benign, uncertain-significance, not specified, Early infantile epileptic encephalopathy 8 | 63,697,125(-) | G/A | coding_sequence_variant, synonymous_variant | |
| rs373866956 | likely-benign, Early infantile epileptic encephalopathy 8 | 63,706,309(-) | C/T | coding_sequence_variant, synonymous_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1584074 | OTHER | inversion | 17803354 |
| esv3558915 | CNV | deletion | 23714750 |
| esv3574010 | CNV | loss | 25503493 |
| esv3576915 | CNV | gain | 25503493 |
| nsv474047 | CNV | novel sequence insertion | 20440878 |
Residual Variation Intolerance Score:
70.6% 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)
Additional Variant Information for ARHGEF9 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGEF9 Gene
Disorders for ARHGEF9 Gene
(2) MalaCards diseases for ARHGEF9 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epileptic encephalopathy, early infantile, 8 |
|
|
| hyperekplexia |
|
Search ARHGEF9 in MalaCards
View complete list of genes associated with diseases
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.
Additional Disease Information for ARHGEF9
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for ARHGEF9 Gene
Publications for ARHGEF9 Gene
- The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering. (PMID: 15215304) Harvey K … Harvey RJ (The Journal of neuroscience : the official journal of the Society for Neuroscience 2004) 3 4 22 58
- Identification and characterization of hPEM-2, a guanine nucleotide exchange factor specific for Cdc42. (PMID: 10559246) Reid T … Collard JG (The Journal of biological chemistry 1999) 2 3 4 58
- 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 research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4 58
- Lipid binding defects and perturbed synaptogenic activity of a Collybistin R290H mutant that causes epilepsy and intellectual disability. (PMID: 25678704) Papadopoulos T … Brose N (The Journal of biological chemistry 2015) 3 4 58
- Mutation of ARHGAP9 in patients with coronary spastic angina. (PMID: 19911011) Takefuji M … Kaibuchi K (Journal of human genetics 2010) 3 44 58
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Sources for ARHGEF9 Gene
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