Human Gene ARHGEF17 (uc001otu.3)
  Description: Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr11:73,019,663-73,080,425 Size: 60,763 Total Exon Count: 21 Strand: +
Coding Region
   Position: hg19 chr11:73,019,684-73,078,825 Size: 59,142 Coding Exon Count: 21 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:73,019,663-73,080,425)mRNA (may differ from genome)Protein (2063 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ARHGH_HUMAN
DESCRIPTION: RecName: Full=Rho guanine nucleotide exchange factor 17; AltName: Full=164 kDa Rho-specific guanine-nucleotide exchange factor; Short=p164-RhoGEF; Short=p164RhoGEF; AltName: Full=Tumor endothelial marker 4;
FUNCTION: Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPases.
TISSUE SPECIFICITY: Highly expressed in the heart.
SIMILARITY: Contains 1 DH (DBL-homology) domain.

-  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): ARHGEF17
CDC HuGE Published Literature: ARHGEF17

-  MalaCards Disease Associations
  MalaCards Gene Search: ARHGEF17
Diseases sorted by gene-association score: rectum adenocarcinoma (7)

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 56.72 RPKM in Artery - Tibial
Total median expression: 945.93 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
5' UTR -2.4021-0.114 Picture PostScript Text
3' UTR -643.921600-0.402 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
IPR011993 - PH_like_dom
IPR015943 - WD40/YVTN_repeat-like_dom
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF00621 - RhoGEF domain

SCOP Domains:
48065 - DBL homology domain (DH-domain)
50729 - PH domain-like
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50978 - WD40 repeat-like

ModBase Predicted Comparative 3D Structure on Q96PE2
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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
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details  Gene DetailsGene Details 
Gene Sorter  Gene SorterGene Sorter 
  EnsemblFlyBaseWormBase 
  Protein SequenceProtein SequenceProtein Sequence 
  AlignmentAlignmentAlignment 

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

Biological Process:
GO:0007186 G-protein coupled receptor signaling pathway
GO:0030036 actin cytoskeleton organization
GO:0035023 regulation of Rho protein signal transduction
GO:0043065 positive regulation of apoptotic process
GO:0051056 regulation of small GTPase mediated signal transduction

Cellular Component:
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  LF212133 - JP 2014500723-A/19636: Polycomb-Associated Non-Coding RNAs.
LF207795 - JP 2014500723-A/15298: Polycomb-Associated Non-Coding RNAs.
BC050031 - Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17, mRNA (cDNA clone IMAGE:5188282), partial cds.
AK074500 - Homo sapiens cDNA FLJ90019 fis, clone HEMBA1000745.
BC137228 - Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17, mRNA (cDNA clone MGC:168848 IMAGE:9021225), complete cds.
AF378754 - Homo sapiens tumor endothelial marker 4 (TEM4) mRNA, complete cds.
LF369259 - JP 2014500723-A/176762: Polycomb-Associated Non-Coding RNAs.
AB002335 - Homo sapiens mRNA for KIAA0337 gene, partial cds.
LF369258 - JP 2014500723-A/176761: Polycomb-Associated Non-Coding RNAs.
LF369237 - JP 2014500723-A/176740: Polycomb-Associated Non-Coding RNAs.
JD322029 - Sequence 303053 from Patent EP1572962.
JD050708 - Sequence 31732 from Patent EP1572962.
JD320766 - Sequence 301790 from Patent EP1572962.
JD355766 - Sequence 336790 from Patent EP1572962.
JD375128 - Sequence 356152 from Patent EP1572962.
JD172969 - Sequence 153993 from Patent EP1572962.
JD393400 - Sequence 374424 from Patent EP1572962.
JD461516 - Sequence 442540 from Patent EP1572962.
JD191542 - Sequence 172566 from Patent EP1572962.
JD297465 - Sequence 278489 from Patent EP1572962.
JD108653 - Sequence 89677 from Patent EP1572962.
JD242218 - Sequence 223242 from Patent EP1572962.
JD559978 - Sequence 541002 from Patent EP1572962.
LF369234 - JP 2014500723-A/176737: Polycomb-Associated Non-Coding RNAs.
JD124600 - Sequence 105624 from Patent EP1572962.
JD187289 - Sequence 168313 from Patent EP1572962.
JD307992 - Sequence 289016 from Patent EP1572962.
JD501600 - Sequence 482624 from Patent EP1572962.
MA604836 - JP 2018138019-A/176762: Polycomb-Associated Non-Coding RNAs.
MA604835 - JP 2018138019-A/176761: Polycomb-Associated Non-Coding RNAs.
MA604814 - JP 2018138019-A/176740: Polycomb-Associated Non-Coding RNAs.
MA604811 - JP 2018138019-A/176737: Polycomb-Associated Non-Coding RNAs.
MA447710 - JP 2018138019-A/19636: Polycomb-Associated Non-Coding RNAs.
MA443372 - JP 2018138019-A/15298: Polycomb-Associated Non-Coding RNAs.

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

Protein Q96PE2 (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: ARHGH_HUMAN, B2RP20, KIAA0337, NM_014786, NP_055601, Q86XU2, Q8N2S0, Q96PE2, Q9Y4G3, TEM4
UCSC ID: uc001otu.3
RefSeq Accession: NM_014786
Protein: Q96PE2 (aka ARHGH_HUMAN)
CCDS: CCDS8221.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_014786.3
exon count: 21CDS single in 3' UTR: no RNA size: 7830
ORF size: 6192CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 12584.00frame 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
Click here for a detailed description of the fields of the table above.

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