Human Gene ARHGEF10 (ENST00000398564.5) Description and Page Index
  Description: May play a role in developmental myelination of peripheral nerves. (from UniProt O15013)
RefSeq Summary (NM_001308153): This gene encodes a Rho guanine nucleotide exchange factor (GEF). Rho GEFs regulate the activity of small Rho GTPases by stimulating the exchange of guanine diphosphate (GDP) for guanine triphosphate (GTP) and may play a role in neural morphogenesis. Mutations in this gene are associated with slowed nerve conduction velocity (SNCV). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015].
Gencode Transcript: ENST00000398564.5
Gencode Gene: ENSG00000104728.16
Transcript (Including UTRs)
   Position: hg38 chr8:1,826,111-1,958,633 Size: 132,523 Total Exon Count: 29 Strand: +
Coding Region
   Position: hg38 chr8:1,826,111-1,957,263 Size: 131,153 Coding Exon Count: 29 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:1,826,111-1,958,633)mRNA (may differ from genome)Protein (1369 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
MGIneXtProtPubMedReactomeStanford SOURCEUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: ARHGA_HUMAN
DESCRIPTION: RecName: Full=Rho guanine nucleotide exchange factor 10;
FUNCTION: May play a role in developmental myelination of peripheral nerves.
DISEASE: Defects in ARHGEF10 are the cause of slowed nerve conduction velocity (SNCV) [MIM:608236]. Affected individuals present a reduction in nerve conduction velocities without any clinical signs of peripheral or central nervous system dysfunction. SNCV inheritance is autosomal dominant.
SIMILARITY: Contains 1 DH (DBL-homology) domain.
SEQUENCE CAUTION: Sequence=AAH36809.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact; Sequence=AAH40474.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact; Sequence=BAA20754.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAH18365.1; Type=Erroneous termination; Positions=895; Note=Translated as Lys;

-  MalaCards Disease Associations
  MalaCards Gene Search: ARHGEF10
Diseases sorted by gene-association score: slowed nerve conduction velocity, ad* (1700), ulnar neuropathy (17), adie pupil (11), uremic neuropathy (9), nerve compression syndrome (7), carpal tunnel syndrome, familial (7), mental retardation, x-linked, syndromic 13 (7), mononeuropathy (6), charcot-marie-tooth disease, type 1e (4), charcot-marie-tooth disease (2), peripheral nervous system disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 53.36 RPKM in Nerve - Tibial
Total median expression: 481.30 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -369.501370-0.270 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000219 - DH-domain
IPR015943 - WD40/YVTN_repeat-like_dom
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF00621 - RhoGEF domain

ModBase Predicted Comparative 3D Structure on O15013
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005089 Rho guanyl-nucleotide exchange factor activity
GO:0005515 protein binding
GO:0019894 kinesin binding

Biological Process:
GO:0022011 myelination in peripheral nervous system
GO:0035023 regulation of Rho protein signal transduction
GO:0051298 centrosome duplication
GO:0051496 positive regulation of stress fiber assembly
GO:0090307 mitotic spindle assembly
GO:0090630 activation of GTPase activity

Cellular Component:
GO:0005813 centrosome
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AB002292 - Homo sapiens mRNA for KIAA0294 gene.
BC112926 - Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10, mRNA (cDNA clone MGC:131664 IMAGE:6500770), complete cds.
CR749570 - Homo sapiens mRNA; cDNA DKFZp686H0726 (from clone DKFZp686H0726).
AB385304 - Synthetic construct DNA, clone: pF1KA0294, Homo sapiens ARHGEF10 gene for Rho guanine nucleotide exchange factor 10, complete cds, without stop codon, in Flexi system.
AK309799 - Homo sapiens cDNA, FLJ99840.
BC040474 - Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10, mRNA (cDNA clone IMAGE:4250879), complete cds.
AL137508 - Homo sapiens mRNA; cDNA DKFZp761P221 (from clone DKFZp761P221).
CU691882 - Synthetic construct Homo sapiens gateway clone IMAGE:100023025 5' read ARHGEF10 mRNA.
KJ902002 - Synthetic construct Homo sapiens clone ccsbBroadEn_11396 ARHGEF10 gene, encodes complete protein.
KR711460 - Synthetic construct Homo sapiens clone CCSBHm_00023969 ARHGEF10 (ARHGEF10) mRNA, encodes complete protein.
BC036809 - Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10, mRNA (cDNA clone IMAGE:5737598), complete cds.
AF009205 - Homo sapiens clone L5 unknown mRNA, partial cds.
JD027343 - Sequence 8367 from Patent EP1572962.
JD033593 - Sequence 14617 from Patent EP1572962.
JD024211 - Sequence 5235 from Patent EP1572962.
JD033268 - Sequence 14292 from Patent EP1572962.
JD474508 - Sequence 455532 from Patent EP1572962.
JD172445 - Sequence 153469 from Patent EP1572962.
JD269350 - Sequence 250374 from Patent EP1572962.
JD315011 - Sequence 296035 from Patent EP1572962.
JD090737 - Sequence 71761 from Patent EP1572962.
JD328155 - Sequence 309179 from Patent EP1572962.
JD359187 - Sequence 340211 from Patent EP1572962.
JD502095 - Sequence 483119 from Patent EP1572962.
JD094955 - Sequence 75979 from Patent EP1572962.
JD402614 - Sequence 383638 from Patent EP1572962.
JD067789 - Sequence 48813 from Patent EP1572962.
JD456130 - Sequence 437154 from Patent EP1572962.
JD424262 - Sequence 405286 from Patent EP1572962.
JD152465 - Sequence 133489 from Patent EP1572962.
JD257122 - Sequence 238146 from Patent EP1572962.
JD554492 - Sequence 535516 from Patent EP1572962.
JD251919 - Sequence 232943 from Patent EP1572962.
JD311042 - Sequence 292066 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O15013 (Reactome details) participates in the following event(s):

R-HSA-194913 GEFs activate Rho GTPase:GDP
R-HSA-419166 GEFs activate RhoA,B,C
R-HSA-205039 p75NTR indirectly activates RAC and Cdc42 via a guanyl-nucleotide exchange factor
R-HSA-194840 Rho GTPase cycle
R-HSA-416482 G alpha (12/13) signalling events
R-HSA-193648 NRAGE signals death through JNK
R-HSA-194315 Signaling by Rho GTPases
R-HSA-388396 GPCR downstream signalling
R-HSA-204998 Cell death signalling via NRAGE, NRIF and NADE
R-HSA-162582 Signal Transduction
R-HSA-372790 Signaling by GPCR
R-HSA-193704 p75 NTR receptor-mediated signalling
R-HSA-73887 Death Receptor Signalling

-  Other Names for This Gene
  Alternate Gene Symbols: ARHGA_HUMAN, CR749570, KIAA0294, O14665, O15013, Q2KHR8, Q68D55, Q8IWD9, Q8IY77, uc064jya.1
UCSC ID: uc064jya.1
RefSeq Accession: NM_001308153
Protein: O15013 (aka ARHGA_HUMAN or ARHA_HUMAN)
CCDS: CCDS34794.1, CCDS78297.1, CCDS78296.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.