Human Gene ARHGEF11 (uc001fqn.3)
  Description: Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 2, mRNA.
RefSeq Summary (NM_198236): Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. A similar protein in rat interacts with glutamate transporter EAAT4 and modulates its glutamate transport activity. Expression of the rat protein induces the reorganization of the actin cytoskeleton and its overexpression induces the formation of membrane ruffling and filopodia. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr1:156,904,632-157,015,162 Size: 110,531 Total Exon Count: 41 Strand: -
Coding Region
   Position: hg19 chr1:156,905,792-157,014,122 Size: 108,331 Coding Exon Count: 41 

Page IndexSequence and LinksPrimersGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:156,904,632-157,015,162)mRNA (may differ from genome)Protein (1562 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
OMIMPubMedReactomeTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ARHGEF11
CDC HuGE Published Literature: ARHGEF11
Positive Disease Associations: lung cancer
Related Studies:
  1. lung cancer
    Gu, J. et al. 2006, A nonsynonymous single-nucleotide polymorphism in the PDZ-Rho guanine nucleotide exchange factor (Ser1416Gly) modulates the risk of lung cancer in Mexican Americans, Cancer 2006. [PubMed 16691626]
    To the authors knowledge, this is the first epidemiological study to link PDZ-RhoGEF polymorphisms with cancer risk. The results suggest that there are interactions between RGS2, RGS6, and PDZ-RhoGEF and validate this family of proteins as key regulators of tumorigenesis.

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.34 RPKM in Testis
Total median expression: 468.50 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -308.861040-0.297 Picture PostScript Text
3' UTR -394.351160-0.340 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
  Pfam Domains:
PF00595 - PDZ domain (Also known as DHR or GLGF)
PF00615 - Regulator of G protein signaling domain
PF00621 - RhoGEF domain
PF09128 - Regulator of G protein signalling-like domain
PF13180 - PDZ domain

SCOP Domains:
48065 - DBL homology domain (DH-domain)
48097 - Regulator of G-protein signaling, RGS
50156 - PDZ domain-like
50729 - PH domain-like

ModBase Predicted Comparative 3D Structure on O15085-2
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-  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
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Descriptions from all associated GenBank mRNAs
  BC057394 - Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11, mRNA (cDNA clone MGC:60344 IMAGE:6148684), complete cds.
AL832790 - Homo sapiens mRNA; cDNA DKFZp667F1223 (from clone DKFZp667F1223).
AB002378 - Homo sapiens ARHGEF11/KIAA0380 mRNA for KIAA0380 protein.
JD460206 - Sequence 441230 from Patent EP1572962.
JD223267 - Sequence 204291 from Patent EP1572962.
JD450404 - Sequence 431428 from Patent EP1572962.
AK302500 - Homo sapiens cDNA FLJ50916 complete cds, highly similar to Rho guanine nucleotide exchange factor 11.
JD393742 - Sequence 374766 from Patent EP1572962.
JD178421 - Sequence 159445 from Patent EP1572962.
JD399022 - Sequence 380046 from Patent EP1572962.
JD363990 - Sequence 345014 from Patent EP1572962.
AB383867 - Synthetic construct DNA, clone: pF1KSDA0380, Homo sapiens ARHGEF11 gene for Rho guanine nucleotide exchange factor 11, complete cds, without stop codon, in Flexi system.
JD312790 - Sequence 293814 from Patent EP1572962.
JD312789 - Sequence 293813 from Patent EP1572962.
JD512128 - Sequence 493152 from Patent EP1572962.
JD420718 - Sequence 401742 from Patent EP1572962.
JD502745 - Sequence 483769 from Patent EP1572962.
JD560115 - Sequence 541139 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04270 - Vascular smooth muscle contraction

BioCarta from NCI Cancer Genome Anatomy Project
h_rhoPathway - Rho cell motility signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein O15085 (Reactome details) participates in the following event(s):

R-HSA-416594 LARG and PDZ-RhoGEF binds to Plexin-B1
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-416588 Activation of Rho by LARG and PDZ-RhoGEF
R-HSA-416572 Sema4D induced cell migration and growth-cone collapse
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-400685 Sema4D in semaphorin signaling
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-373755 Semaphorin interactions
R-HSA-162582 Signal Transduction
R-HSA-372790 Signaling by GPCR
R-HSA-193704 p75 NTR receptor-mediated signalling
R-HSA-422475 Axon guidance
R-HSA-73887 Death Receptor Signalling
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: KIAA0380, NM_198236, NP_937879, O15085-2
UCSC ID: uc001fqn.3
RefSeq Accession: NM_198236
Protein: O15085-2, splice isoform of O15085 CCDS: CCDS1162.1, CCDS1163.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_198236.2
exon count: 41CDS single in 3' UTR: no RNA size: 6904
ORF size: 4689CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 9236.00frame shift in genome: no % Coverage: 99.78
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.