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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 thi... See more...
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 Guidance Cues and Growth Cone Motility and Signaling by GPCR. 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 Summary for ARHGEF9 Gene
-
Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters (By similarity).
Additional gene information for ARHGEF9 Gene
- HGNC(14561)
- Entrez Gene(23229)
- Ensembl(ENSG00000131089)
- OMIM(300429)
- UniProtKB(O43307)
- Open Targets Platform(ENSG00000131089)
- Monarch Initiative
- Search for ARHGEF9 at DataMed
- Search for ARHGEF9 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARHGEF9 Gene
Genomics for ARHGEF9 Gene
GeneHancer (GH) Regulatory Elements Pubs
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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH0XJ063750 | Promoter/Enhancer | 1.8 | EPDnew Ensembl ENCODE CraniofacialAtlas | 612.1 | +56.0 | 56015 | 5.9 | SP1 CREB1 PRDM10 ZNF512 POLR2A FOS PRDM1 RELA PKNOX1 PATZ1 | ARHGEF9 HSALNG0138235 MIR1468 piR-33614-285 SPIN4 | |
| GH0XJ063781 | Promoter/Enhancer | 1.5 | EPDnew Ensembl ENCODE CraniofacialAtlas | 600.3 | +25.2 | 25234 | 4.5 | POLR2A ZNF316 MAFF MAFK MAFG SIN3A TAF1 TBP | ARHGEF9 MIR1468 piR-33804-187 SPIN4 | |
| GH0XJ063809 | Promoter | 0.4 | EPDnew | 600.7 | 0.0 | -11 | 0.1 | RFX5 | ARHGEF9 piR-54764-683 AMER1 | |
| GH0XJ063761 | Enhancer | 0.8 | Ensembl ENCODE | 13.5 | +47.5 | 47473 | 1.2 | CTCF RAD21 IKZF2 TRIM22 EED ARID3A RELB RUNX3 BCLAF1 TCF12 | MIR1468 ARHGEF9 BTF3P8 HSALNG0138235 SPIN4 | |
| GH0XJ063745 | Enhancer | 0.6 | Ensembl ENCODE | 12.3 | +63.3 | 63274 | 4.8 | RUNX3 NFIC SMARCA4 EGR2 | MIR1468 ARHGEF9 HSALNG0138235 piR-33614-285 SPIN4 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ARHGEF9 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARHGEF9
- Top Transcription factor binding sites by QIAGEN in the ARHGEF9 gene promoter:
-
- C/EBPbeta
- E47
- LCR-F1
- Meis-1
- Meis-1a
- Meis-1b
- MyoD
- PPAR-gamma1
- PPAR-gamma2
- Tal-1
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)
- Size:
- 150,580 bases
- Orientation:
- Minus strand
Genomic View for ARHGEF9 Gene
Genes around ARHGEF9 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xq11.1 by HGNC
- Xq11.1 by Entrez Gene
- Xq11.2 by Ensembl
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; Note=Extended N-terminus.; Evidence={ECO:0000305};
Protein Expression for ARHGEF9 Gene
Post-translational modifications for ARHGEF9 Gene
Other Protein References for ARHGEF9 Gene
- ENSEMBL proteins:
-
- ENSP00000253401
- ENSP00000364012
- ENSP00000500715
- ENSP00000364004
- ENSP00000500829
- ENSP00000490459
- ENSP00000490063
- ENSP00000490410
- ENSP00000500825
- ENSP00000485282
- ENSP00000499905
- ENSP00000490123
- ENSP00000492318
- ENSP00000490269
- ENSP00000490679
- ENSP00000399994
- ENSP00000485369
- ENSP00000485633
- ENSP00000485144
- ENSP00000490940
- ENSP00000489637
- ENSP00000489862
- ENSP00000485086
- ENSP00000490691
- ENSP00000364006
- ENSP00000485626
- ENSP00000489853
- ENSP00000490693
- ENSP00000490667
- ENSP00000490408
- ENSP00000490005
- ENSP00000489670
- ENSP00000485083
- ENSP00000485160
- ENSP00000485559
- ENSP00000485327
- REFSEQ proteins:
-
- XP_016884853.1
- XP_016884863.1
- XP_016884866.1
- XP_016884867.1
- XP_016884869.1
- XP_024308124.1
- XP_024308125.1
- 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_001355959.1
- NP_001355960.1
- NP_001355961.1
- NP_001355962.1
- NP_001355963.1
- NP_001355964.1
- NP_001355965.1
- NP_001355966.1
- NP_001355967.1
- NP_001355968.1
- NP_001355969.1
- NP_001355970.1
- NP_001355971.1
- NP_001355972.1
- NP_001355973.1
- NP_001355974.1
- NP_056000.1
Antibody Products
- LifeSpan BioSciences ARHGEF9 / Collybistin Antibody (LS-B5689) and ARHGEF9 / Collybistin Antibody (LS-B5695)
-
Custom Antibody ServicesOriGene Antibodies for ARHGEF9
- Novus Biologicals Antibodies for ARHGEF9
-
Abcam antibodies for ARHGEF9
- Invitrogen Antibodies for ARHGEF9 (AFLGC-ARHGEF9)
- antibodies-online: Show 17 available Arhgef9 Antibodies ranked by validation data
- Compare Top Arhgef9 Antibodies
-
Recommended
- 42 WB Antibodies (anti-human)
- 5 IHC (p) Antibodies (anti-human)
- 3 IHC Antibodies (anti-human)
- 1 IF Antibody (anti-human)
- 18 WB Antibodies (anti-rat)
- 3 IHC Antibodies (anti-rat)
- 2 IHC (p) Antibodies (anti-rat)
- 1 IP Antibody (anti-rat)
- 12 WB Antibodies (anti-mouse)
- 3 IHC Antibodies (anti-mouse)
- 2 IHC (p) Antibodies (anti-mouse)
- 1 IP Antibody (anti-mouse)
-
Biorbyt antibodies for ARHGEF9
-
Boster Bio Antibodies for ARHGEF9
-
Santa Cruz Biotechnology (SCBT) Antibodies for ARHGEF9
- Sino Biological 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
-
Signalway Proteins for ARHGEF9
-
Abcam proteins for ARHGEF9
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:
-
- SH3 domain signature
- Pleckstrin-like
- DH domain
- 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)
No data available for Graphical View of Domain Structure and 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 (By similarity).
Phenotypes From GWAS Catalog for ARHGEF9 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005085 | guanyl-nucleotide exchange factor activity | IEA | -- |
| GO:0005515 | protein binding | IEA | -- |
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 Arhgef9<tm1.1Betz>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ARHGEF9 - Select products 50% OFF >
- * ARHGEF9 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
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-
OriGene CRISPR knockouts for ARHGEF9
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ARHGEF9
-
Santa Cruz Biotechnology (SCBT) CRISPR for ARHGEF9
miRNA for ARHGEF9 Gene
- miRTarBase miRNAs that target ARHGEF9
-
- mmu-miR-362-5p (MIRT009050)
- mmu-miR-17-5p (MIRT010107)
- mmu-miR-340-5p (MIRT010587)
- mmu-miR-129-5p (MIRT590634)
- mmu-miR-342-3p (MIRT594543)
- mmu-miR-377-3p (MIRT594544)
- mmu-miR-466n-5p (MIRT601201)
- mmu-miR-466h-5p (MIRT601202)
- mmu-miR-669m-5p (MIRT601203)
- mmu-miR-466m-5p (MIRT601204)
- mmu-miR-466j (MIRT601205)
- mmu-miR-466q (MIRT601206)
- mmu-miR-3470b (MIRT601207)
- mmu-miR-1187 (MIRT601208)
- mmu-miR-466p-5p (MIRT601209)
- mmu-miR-466a-5p (MIRT601210)
- mmu-miR-466e-5p (MIRT601211)
- 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
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ARHGEF9
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Clone Products
- Applied Biological Materials (abm): Clones for ARHGEF9 - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG222543
- MR222543
- MR222543L3
- MR222543L4
- MR230227
- MR230228
- RC216681
- RC216681L1
- RC216681L2
- RC216681L3
- RC216681L4
- RC230035
- RC230035L3
- RC230035L4
- RC230127
- RC230127L3
- RC230127L4
- RG216681
- RG230035
- RG230127
- RR200881
- RR200881L3
- RR200881L4
- MR222543L3V
- MR222543L4V
- RC216681L1V
- RC216681L2V
- RC216681L3V
- RC216681L4V
- RC230035L3V
- RC230035L4V
- RC230127L3V
- RC230127L4V
- RR200881L3V
- RR200881L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ARHGEF9
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ARHGEF9
Cell Line Products
-
Horizon Cell Lines for ARHGEF9
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
- Cytoplasm. Cell junction, synapse, postsynaptic density.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IDA,TAS | -- |
| GO:0014069 | postsynaptic density | ISS | -- |
| GO:0030054 | cell junction | IEA | -- |
| GO:0045202 | synapse | IEA | -- |
Pathways & Interactions for ARHGEF9 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | p75 NTR receptor-mediated signalling |
.36
|
|
| 2 | GPCR Pathway |
Ras Pathway
.73
GPCR Pathway
.62
|
Pancreatic Adenocarcinoma
.59
Breast Cancer Regulation by Stathmin1
.58
|
| 3 | G-AlphaQ Signaling |
G-AlphaI Signaling
.47
G-AlphaQ Signaling
.47
|
Thrombin Signaling
.40
|
| 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
- Activation of PKC through GPCR
- Breast Cancer Regulation by Stathmin1
- CXCR4 Pathway
- G-AlphaI Signaling
- G-AlphaQ Signaling
Interacting Proteins for ARHGEF9 Gene
Selected Interacting proteins:
O43307-ARHG9_HUMAN
ENSP00000253401
for ARHGEF9 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for ARHGEF9
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007186 | G protein-coupled receptor signaling pathway | TAS | -- |
| GO:0043065 | positive regulation of apoptotic process | TAS | -- |
| GO:0051056 | regulation of small GTPase mediated signal transduction | TAS | -- |
| GO:0099150 | regulation of postsynaptic specialization assembly | IEA | -- |
Transcripts for ARHGEF9 Gene
mRNA/cDNA for ARHGEF9 Gene
- 27 REFSEQ mRNAs :
- 14 NCBI additional mRNA sequence :
- 43 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000253401 5413 nts (view in UCSC)
- ENST00000374878 2217 nts (view in UCSC)
- ENST00000671741 4702 nts (view in UCSC)
- ENST00000374870 4644 nts (view in UCSC)
- ENST00000671907 5117 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ARHGEF9 - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ARHGEF9
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ARHGEF9
-
Santa Cruz Biotechnology (SCBT) CRISPR for ARHGEF9
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ARHGEF9
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Clone Products
- Applied Biological Materials (abm): Clones for ARHGEF9 - Select products 50% OFF >
- * ARHGEF9 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG222543
- MR222543
- MR222543L3
- MR222543L4
- MR230227
- MR230228
- RC216681
- RC216681L1
- RC216681L2
- RC216681L3
- RC216681L4
- RC230035
- RC230035L3
- RC230035L4
- RC230127
- RC230127L3
- RC230127L4
- RG216681
- RG230035
- RG230127
- RR200881
- RR200881L3
- RR200881L4
- MR222543L3V
- MR222543L4V
- RC216681L1V
- RC216681L2V
- RC216681L3V
- RC216681L4V
- RC230035L3V
- RC230035L4V
- RC230127L3V
- RC230127L4V
- RR200881L3V
- RR200881L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ARHGEF9
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ARHGEF9
| 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
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 and MOPED for ARHGEF9 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARHGEF9
SOURCE 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(2.7)
- Muscle(2.2)
- Kidney(2.1)
- Skin(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
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 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ARHGEF9 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | LOC537718 30 |
|
||
| ARHGEF9 31 |
|
OneToOne | |||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ARHGEF9 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Arhgef9 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Arhgef9 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | ARHGEF9 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ARHGEF9 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | arhgef9 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | arhgef9a 31 |
|
OneToMany | |
| arhgef9b 30 31 31 |
|
OneToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7470 31 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3922 30 |
|
- Species where no ortholog for ARHGEF9 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for ARHGEF9: view image
Paralogs for ARHGEF9 Gene
Paralogs for ARHGEF9 Gene
(6) SIMAP similar genes for ARHGEF9 Gene using alignment to 4 proteins:
- ARHG9_HUMAN
- B1AMR3_HUMAN
- B1AMR4_HUMAN
- B4DGQ8_HUMAN
Variants for ARHGEF9 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARHGEF9 Gene
| SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 644871 | Benign: Early infantile epileptic encephalopathy 8 | 63,785,117(-) | A/G | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
| 648941 | Likely Pathogenic: Early infantile epileptic encephalopathy 8 | 63,697,151(-) | C/T | MISSENSE_VARIANT | |
| 653238 | Likely Benign: Early infantile epileptic encephalopathy 8 | 63,638,135(-) | C/G | MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT | |
| 653302 | Uncertain Significance: Early infantile epileptic encephalopathy 8 | 63,638,167(-) | G/A | MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT | |
| 654805 | Uncertain Significance: Early infantile epileptic encephalopathy 8 | 63,724,666(-) | G/A | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_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
(13) MalaCards diseases for ARHGEF9 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epileptic encephalopathy, early infantile, 8 |
|
|
| hyperekplexia |
|
|
| early infantile epileptic encephalopathy |
|
|
| ritscher-schinzel syndrome 2 |
|
|
| epilepsy |
|
|
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
- Open Targets Platform
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 23
- 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
- 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
- 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
- Mutation of ARHGAP9 in patients with coronary spastic angina. (PMID: 19911011) Takefuji M … Kaibuchi K (Journal of human genetics 2010) 3 41
ExternalLinks
Products for ARHGEF9 Gene
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Sources for ARHGEF9 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
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- (27) ASD
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- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
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- (38) dbSNP
- (39) GenAtlas
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- (43) HuGE
- (44) Atlas
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- (67) Reactome
- (68) GeneGo (Thomson Reuters)
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- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
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