ENSG00000129675


Homo sapiens

Features
Gene ID: ENSG00000129675
  
Biological name :ARHGEF6
  
Synonyms : ARHGEF6 / Q15052 / Rac/Cdc42 guanine nucleotide exchange factor 6
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: -1
Band: q26.3
Gene start: 136665547
Gene end: 136782088
  
Corresponding Affymetrix probe sets: 209539_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000250617
Ensembl peptide - ENSP00000359654
Ensembl peptide - ENSP00000359656
NCBI entrez gene - 9459     See in Manteia.
OMIM - 300267
RefSeq - XM_017029976
RefSeq - NM_001306177
RefSeq - NM_004840
RefSeq - XM_011531416
RefSeq - XM_011531417
RefSeq - XM_017029975
RefSeq - XM_005262499
RefSeq - XM_011531412
RefSeq - XM_011531413
RefSeq - XM_011531414
RefSeq - XM_011531415
RefSeq Peptide - NP_004831
RefSeq Peptide - NP_001293106
swissprot - Q15052
Ensembl - ENSG00000129675
  
Related genetic diseases (OMIM): 300436 - ?Mental retardation, X-linked 46, 300436
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
 arhgef6ENSDARG00000006683Danio rerio
 Q5ZLR6ENSGALG00000006439Gallus gallus
 Arhgef6ENSMUSG00000031133Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q14155 / ARHGEF7 / Rho guanine nucleotide exchange factor 7ENSG0000010260655
TIAM2 / Q8IVF5 / T cell lymphoma invasion and metastasis 2ENSG0000014642618
PREX1 / Q8TCU6 / phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1ENSG0000012412617
TIAM1 / Q13009 / T cell lymphoma invasion and metastasis 1ENSG0000015629917
Q96N96 / SPATA13 / spermatogenesis associated 13ENSG0000018295716
PREX2 / Q70Z35 / phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2ENSG0000004688915
VAV2 / P52735 / vav guanine nucleotide exchange factor 2ENSG0000016029315
VAV3 / Q9UKW4 / vav guanine nucleotide exchange factor 3ENSG0000013421515
AL359736.1ENSG0000027316715
Q9NR80 / ARHGEF4 / Rho guanine nucleotide exchange factor 4ENSG0000013600214
VAV1 / P15498 / vav guanine nucleotide exchange factor 1ENSG0000014196814
O43307 / ARHGEF9 / Cdc42 guanine nucleotide exchange factor 9ENSG0000013108913


Protein motifs (from Interpro)
Interpro ID Name
 IPR000219  Dbl homology (DH) domain
 IPR001452  SH3 domain
 IPR001715  Calponin homology domain
 IPR001849  Pleckstrin homology domain
 IPR003096  Smooth muscle protein/calponin
 IPR011993  PH-like domain superfamily
 IPR032409  Rho guanine nucleotide exchange factor, coiled-coil domain
 IPR035788  Rho guanine nucleotide exchange factor 6, SH3 domain
 IPR035899  Dbl homology (DH) domain superfamily
 IPR036028  SH3-like domain superfamily
 IPR036872  CH domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006915 apoptotic process NAS
 biological_processGO:0007186 G-protein coupled receptor signaling pathway TAS
 biological_processGO:0007254 JNK cascade NAS
 biological_processGO:0030032 lamellipodium assembly ISS
 biological_processGO:0035023 regulation of Rho protein signal transduction IEA
 biological_processGO:0043065 positive regulation of apoptotic process TAS
 biological_processGO:0043547 positive regulation of GTPase activity IEA
 biological_processGO:0051056 regulation of small GTPase mediated signal transduction TAS
 biological_processGO:0065009 regulation of molecular function IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0030027 lamellipodium ISS
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0005085 guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0005089 Rho guanyl-nucleotide exchange factor activity NAS
 molecular_functionGO:0005096 GTPase activator activity NAS
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
NRAGE signals death through JNK
Rho GTPase cycle
G alpha (12/13) signalling events
Regulation of cytoskeletal remodeling and cell spreading by IPP complex components


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0001249 Mental retardation 
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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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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000188677 PARVB / Q9HBI1 / parvin beta  / complex / reaction






 

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