ENSG00000104728


Homo sapiens

Features
Gene ID: ENSG00000104728
  
Biological name :ARHGEF10
  
Synonyms : ARHGEF10 / O15013 / Rho guanine nucleotide exchange factor 10
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: 1
Band: p23.3
Gene start: 1823976
Gene end: 1958641
  
Corresponding Affymetrix probe sets: 1554213_at (Human Genome U133 Plus 2.0 Array)   1554703_at (Human Genome U133 Plus 2.0 Array)   215139_at (Human Genome U133 Plus 2.0 Array)   216620_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000427909
Ensembl peptide - ENSP00000427768
Ensembl peptide - ENSP00000431012
Ensembl peptide - ENSP00000340297
Ensembl peptide - ENSP00000381568
Ensembl peptide - ENSP00000381571
NCBI entrez gene - 9639     See in Manteia.
OMIM - 608136
RefSeq - XM_017014003
RefSeq - NM_001308153
RefSeq - NM_014629
RefSeq - XM_005266041
RefSeq - XM_011534767
RefSeq - XM_011534768
RefSeq - XM_011534770
RefSeq - NM_001308152
RefSeq Peptide - NP_055444
RefSeq Peptide - NP_001295081
RefSeq Peptide - NP_001295082
swissprot - H0YAN8
swissprot - O15013
swissprot - E9PB39
Ensembl - ENSG00000104728
  
Related genetic diseases (OMIM): 608236 - ?Slowed nerve conduction velocity, AD, 608236
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
 arhgef10ENSDARG00000077788Danio rerio
 ARHGEF10ENSGALG00000016350Gallus gallus
 Q8C033ENSMUSG00000071176Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9HCE6 / ARHGEF10L / Rho guanine nucleotide exchange factor 10 likeENSG0000007496441
Q96PE2 / ARHGEF17 / Rho guanine nucleotide exchange factor 17ENSG0000011023718
SPAG9 / O60271 / sperm associated antigen 9ENSG0000000829414
Q9UPT6 / MAPK8IP3 / mitogen-activated protein kinase 8 interacting protein 3ENSG0000013883414


Protein motifs (from Interpro)
Interpro ID Name
 IPR000219  Dbl homology (DH) domain
 IPR011993  PH-like domain superfamily
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR030632  Rho guanine nucleotide exchange factor 10
 IPR035899  Dbl homology (DH) domain superfamily
 IPR036322  WD40-repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0022011 myelination in peripheral nervous system IEA
 biological_processGO:0035023 regulation of Rho protein signal transduction IEA
 biological_processGO:0051298 centrosome duplication IMP
 biological_processGO:0051496 positive regulation of stress fiber assembly IMP
 biological_processGO:0065009 regulation of molecular function IEA
 biological_processGO:0090307 mitotic spindle assembly IEA
 biological_processGO:0090630 activation of GTPase activity IDA
 cellular_componentGO:0005813 centrosome IEA
 cellular_componentGO:0005829 cytosol IEA
 molecular_functionGO:0005085 guanyl-nucleotide exchange factor activity IEA
 molecular_functionGO:0005089 Rho guanyl-nucleotide exchange factor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019894 kinesin binding IPI


Pathways (from Reactome)
Pathway description
NRAGE signals death through JNK
Rho GTPase cycle
G alpha (12/13) signalling events


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000762 Decreased nerve conduction velocities 
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 HP:0003383 Onion bulb formations on nerve biopsy 
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 HP:0003581 Onset in adulthood 
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 HP:0011096 Peripheral demyelination "A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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