ENSG00000131089


Homo sapiens

Features
Gene ID: ENSG00000131089
  
Biological name :ARHGEF9
  
Synonyms : ARHGEF9 / Cdc42 guanine nucleotide exchange factor 9 / O43307
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: -1
Band: q11.2
Gene start: 63634967
Gene end: 63809274
  
Corresponding Affymetrix probe sets: 203263_s_at (Human Genome U133 Plus 2.0 Array)   203264_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000485327
Ensembl peptide - ENSP00000485282
Ensembl peptide - ENSP00000485369
Ensembl peptide - ENSP00000492318
Ensembl peptide - ENSP00000490940
Ensembl peptide - ENSP00000490693
Ensembl peptide - ENSP00000490691
Ensembl peptide - ENSP00000490679
Ensembl peptide - ENSP00000490667
Ensembl peptide - ENSP00000490459
Ensembl peptide - ENSP00000490410
Ensembl peptide - ENSP00000490408
Ensembl peptide - ENSP00000490269
Ensembl peptide - ENSP00000490123
Ensembl peptide - ENSP00000490063
Ensembl peptide - ENSP00000490005
Ensembl peptide - ENSP00000489862
Ensembl peptide - ENSP00000489853
Ensembl peptide - ENSP00000489670
Ensembl peptide - ENSP00000489637
Ensembl peptide - ENSP00000485633
Ensembl peptide - ENSP00000485626
Ensembl peptide - ENSP00000485559
Ensembl peptide - ENSP00000253401
Ensembl peptide - ENSP00000364004
Ensembl peptide - ENSP00000364006
Ensembl peptide - ENSP00000364012
Ensembl peptide - ENSP00000399994
Ensembl peptide - ENSP00000485083
Ensembl peptide - ENSP00000485086
Ensembl peptide - ENSP00000485144
Ensembl peptide - ENSP00000485160
NCBI entrez gene - 23229     See in Manteia.
OMIM - 300429
RefSeq - XM_017029380
RefSeq - NM_001173479
RefSeq - NM_001173480
RefSeq - NM_015185
RefSeq - XM_005262249
RefSeq - XM_005262250
RefSeq - XM_005262251
RefSeq - XM_005262252
RefSeq - XM_011530890
RefSeq - XM_011530892
RefSeq - XM_017029363
RefSeq - XM_017029364
RefSeq - XM_017029365
RefSeq - XM_017029366
RefSeq - XM_017029367
RefSeq - XM_017029368
RefSeq - XM_017029369
RefSeq - XM_017029370
RefSeq - XM_017029371
RefSeq - XM_017029372
RefSeq - XM_017029373
RefSeq - XM_017029374
RefSeq - XM_017029375
RefSeq - XM_017029377
RefSeq - XM_017029378
RefSeq - XM_017029379
RefSeq Peptide - NP_001317424
RefSeq Peptide - NP_056000
RefSeq Peptide - NP_001166950
RefSeq Peptide - NP_001166951
swissprot - A0A1B0GWI5
swissprot - A0A1B0GVX8
swissprot - A0A1B0GVV2
swissprot - A0A1B0GVC4
swissprot - A0A1B0GV84
swissprot - A0A1B0GV82
swissprot - A0A1B0GU85
swissprot - A0A1B0GTF0
swissprot - A0A1B0GTC2
swissprot - A0A0A6YYF8
swissprot - A0A0A6YYB3
swissprot - A0A096LPI8
swissprot - A0A096LPE7
swissprot - A0A096LP05
swissprot - A0A096LNY0
swissprot - A0A096LNQ4
swissprot - A0A096LNK7
swissprot - A0A096LNK4
swissprot - O43307
swissprot - B1AMR4
swissprot - B1AMR3
swissprot - A0A1W2PQW9
Ensembl - ENSG00000131089
  
Related genetic diseases (OMIM): 300607 - Epileptic encephalopathy, early infantile, 8, 300607
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 arhgef9aENSDARG00000061746Danio rerio
 arhgef9bENSDARG00000078624Danio rerio
 ARHGEF9ENSGALG00000007608Gallus gallus
 Q3UTH8ENSMUSG00000025656Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q96N96 / SPATA13 / spermatogenesis associated 13ENSG0000018295761
Q9NR80 / ARHGEF4 / Rho guanine nucleotide exchange factor 4ENSG0000013600259
AL359736.1ENSG0000027316757
PREX1 / Q8TCU6 / phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1ENSG0000012412630
PREX2 / Q70Z35 / phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2ENSG0000004688928
TIAM2 / Q8IVF5 / T cell lymphoma invasion and metastasis 2ENSG0000014642622
TIAM1 / Q13009 / T cell lymphoma invasion and metastasis 1ENSG0000015629921
VAV1 / P15498 / vav guanine nucleotide exchange factor 1ENSG0000014196820
Q15052 / ARHGEF6 / Rac/Cdc42 guanine nucleotide exchange factor 6ENSG0000012967519
VAV2 / P52735 / vav guanine nucleotide exchange factor 2ENSG0000016029319
Q14155 / ARHGEF7 / Rho guanine nucleotide exchange factor 7ENSG0000010260619
VAV3 / Q9UKW4 / vav guanine nucleotide exchange factor 3ENSG0000013421517


Protein motifs (from Interpro)
Interpro ID Name
 IPR000219  Dbl homology (DH) domain
 IPR001452  SH3 domain
 IPR001849  Pleckstrin homology domain
 IPR011993  PH-like domain superfamily
 IPR035728  Rho guanine nucleotide exchange factor 9, SH3 domain
 IPR035899  Dbl homology (DH) domain superfamily
 IPR036028  SH3-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007186 G-protein coupled receptor signaling pathway TAS
 biological_processGO:0035023 regulation of Rho protein signal transduction IEA
 biological_processGO:0043065 positive regulation of apoptotic process TAS
 biological_processGO:0051056 regulation of small GTPase mediated signal transduction TAS
 biological_processGO:0065009 regulation of molecular function IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 molecular_functionGO:0005085 guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0005089 Rho guanyl-nucleotide exchange factor activity IEA
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
Neurotransmitter receptors and postsynaptic signal transmission
NRAGE signals death through JNK
Rho GTPase cycle
G alpha (12/13) signalling events
GABA A receptor activation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001276 Hypertonia 
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 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
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 HP:0002267 Exaggerated startle response "An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face." [HPO:curators]
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 HP:0003577 Onset at birth 
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 HP:0006887 Mental retardation, progressive "Mental retardation is defined as a decreased intelligence quotient of varying degree. The term progressive mental retardation should be used if intelligence decreases/deteriorates over time." [HPO:curators]
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 HP:0010864 Mental retardation, severe "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson]
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 HP:0200134 Epileptic encephalopathy 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000151834 GABRA2 / P47869 / gamma-aminobutyric acid type A receptor alpha2 subunit  / complex






 

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© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr