Human Gene ARHGEF2 (uc001fmu.2) Description and Page Index
  Description: Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.
RefSeq Summary (NM_004723): 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 complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009].
Transcript (Including UTRs)
   Position: hg19 chr1:155,916,630-155,959,864 Size: 43,235 Total Exon Count: 26 Strand: -
Coding Region
   Position: hg19 chr1:155,917,733-155,955,186 Size: 37,454 Coding Exon Count: 24 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:155,916,630-155,959,864)mRNA (may differ from genome)Protein (1030 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMGIOMIM
PubMedStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: D3DVA5_HUMAN
DESCRIPTION: SubName: Full=Rho/rac guanine nucleotide exchange factor (GEF) 2, isoform CRA_a;
SIMILARITY: Contains 1 DH (DBL-homology) domain.
SIMILARITY: Contains 1 PH domain.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ARHGEF2
CDC HuGE Published Literature: ARHGEF2

-  MalaCards Disease Associations
  MalaCards Gene Search: ARHGEF2
Diseases sorted by gene-association score: neurodevelopmental disorder with midbrain and hindbrain malformations* (950), unilateral focal polymicrogyria (18), aarskog-scott syndrome (13), scott syndrome (7), motor neuron disease (3)
* = Manually curated disease association

-  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: 31.15 RPKM in Lung
Total median expression: 746.52 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 -98.90255-0.388 Picture PostScript Text
3' UTR -382.811103-0.347 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
IPR001849 - Pleckstrin_homology
IPR002219 - Prot_Kinase_C-like_PE/DAG-bd
IPR015721 - RhoGEF-like

Pfam Domains:
PF00621 - RhoGEF domain

SCOP Domains:
48065 - DBL homology domain (DH-domain)
50729 - PH domain-like
57889 - Cysteine-rich domain

ModBase Predicted Comparative 3D Structure on D3DVA5
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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  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:0046872 metal ion binding

Biological Process:
GO:0035023 regulation of Rho protein signal transduction
GO:0035556 intracellular signal transduction

Cellular Component:
GO:0005622 intracellular


-  Descriptions from all associated GenBank mRNAs
  JD483471 - Sequence 464495 from Patent EP1572962.
BC027722 - Homo sapiens, clone IMAGE:4636257, mRNA.
BC000265 - Homo sapiens cDNA clone IMAGE:3356293, **** WARNING: chimeric clone ****.
AL512715 - Homo sapiens mRNA; cDNA DKFZp547L106 (from clone DKFZp547L106).
AB014551 - Homo sapiens KIAA0651 mRNA for KIAA0651 protein.
AL832538 - Homo sapiens mRNA; cDNA DKFZp547P1516 (from clone DKFZp547P1516).
BC020567 - Homo sapiens rho/rac guanine nucleotide exchange factor (GEF) 2, mRNA (cDNA clone MGC:21557 IMAGE:4157775), complete cds.
JD528743 - Sequence 509767 from Patent EP1572962.
JD065052 - Sequence 46076 from Patent EP1572962.
JD133897 - Sequence 114921 from Patent EP1572962.
JD202638 - Sequence 183662 from Patent EP1572962.
JD203360 - Sequence 184384 from Patent EP1572962.
AK304548 - Homo sapiens cDNA FLJ55568 complete cds, highly similar to Rho/Rac guanine nucleotide exchange factor 2.
JD052478 - Sequence 33502 from Patent EP1572962.
JD445334 - Sequence 426358 from Patent EP1572962.
AK295924 - Homo sapiens cDNA FLJ60581 complete cds, highly similar to Rho/Rac guanine nucleotide exchange factor 2.
JD020727 - Sequence 1751 from Patent EP1572962.
JD030064 - Sequence 11088 from Patent EP1572962.
X15610 - Human mRNA for proliferating cell nucleolar antigen P40 C-terminal fragment.
U72206 - Human guanine nucleotide regulatory factor (LFP40) mRNA, complete cds.
JD500733 - Sequence 481757 from Patent EP1572962.
JD511282 - Sequence 492306 from Patent EP1572962.
JD525846 - Sequence 506870 from Patent EP1572962.
JD112700 - Sequence 93724 from Patent EP1572962.
JD119781 - Sequence 100805 from Patent EP1572962.
JD175224 - Sequence 156248 from Patent EP1572962.
JD396701 - Sequence 377725 from Patent EP1572962.
JD052391 - Sequence 33415 from Patent EP1572962.
JD307530 - Sequence 288554 from Patent EP1572962.
JD426399 - Sequence 407423 from Patent EP1572962.
JD528962 - Sequence 509986 from Patent EP1572962.
JD445737 - Sequence 426761 from Patent EP1572962.
JD168954 - Sequence 149978 from Patent EP1572962.
JD050772 - Sequence 31796 from Patent EP1572962.
JD127434 - Sequence 108458 from Patent EP1572962.
JD052386 - Sequence 33410 from Patent EP1572962.
JD470194 - Sequence 451218 from Patent EP1572962.
JD310679 - Sequence 291703 from Patent EP1572962.
JD268772 - Sequence 249796 from Patent EP1572962.
JD267832 - Sequence 248856 from Patent EP1572962.
AF486838 - Homo sapiens guanine nucleotide exchange factor GEF-H1 mRNA, complete cds.
BT007407 - Homo sapiens rho/rac guanine nucleotide exchange factor (GEF) 2 mRNA, complete cds.
DQ891489 - Synthetic construct clone IMAGE:100004119; FLH177420.01X; RZPDo839H09124D rho/rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2) gene, encodes complete protein.
KJ901951 - Synthetic construct Homo sapiens clone ccsbBroadEn_11345 ARHGEF2 gene, encodes complete protein.
DQ894678 - Synthetic construct Homo sapiens clone IMAGE:100009138; FLH177417.01L; RZPDo839H09123D rho/rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2) gene, encodes complete protein.
AM393305 - Synthetic construct Homo sapiens clone IMAGE:100001944 for hypothetical protein (ARHGEF2 gene).
AB385367 - Synthetic construct DNA, clone: pF1KA0651, Homo sapiens ARHGEF2 gene for Rho/Rac guanine nucleotide exchange factor 2, complete cds, without stop codon, in Flexi system.
JD022056 - Sequence 3080 from Patent EP1572962.
JD027618 - Sequence 8642 from Patent EP1572962.
JD019467 - Sequence 491 from Patent EP1572962.
JD028296 - Sequence 9320 from Patent EP1572962.
JD021705 - Sequence 2729 from Patent EP1572962.
JD031379 - Sequence 12403 from Patent EP1572962.
CU676564 - Synthetic construct Homo sapiens gateway clone IMAGE:100017512 5' read ARHGEF2 mRNA.
AK127366 - Homo sapiens cDNA FLJ45440 fis, clone BRSSN2007168, weakly similar to Mus musculus lymphoid blast crisis-like 1 (Lbcl1).
LF206169 - JP 2014500723-A/13672: Polycomb-Associated Non-Coding RNAs.
LF352130 - JP 2014500723-A/159633: Polycomb-Associated Non-Coding RNAs.
MA587707 - JP 2018138019-A/159633: Polycomb-Associated Non-Coding RNAs.
MA441746 - JP 2018138019-A/13672: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa05130 - Pathogenic Escherichia coli infection

-  Other Names for This Gene
  Alternate Gene Symbols: AB014551, D3DVA5, D3DVA5_HUMAN, hCG_1996334, NM_004723, NP_004714
UCSC ID: uc001fmu.2
RefSeq Accession: NM_004723
Protein: D3DVA5

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AB014551.3
exon count: 26CDS single in 3' UTR: no RNA size: 4434
ORF size: 3093CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 6178.00frame shift in genome: no % Coverage: 99.95
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.