Human Gene PREX2 (ENST00000288368.5_4) from GENCODE V47lift37
  Description: phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2, transcript variant 1 (from RefSeq NM_024870.4)
Gencode Transcript: ENST00000288368.5_4
Gencode Gene: ENSG00000046889.19_8
Transcript (Including UTRs)
   Position: hg19 chr8:68,864,281-69,149,267 Size: 284,987 Total Exon Count: 40 Strand: +
Coding Region
   Position: hg19 chr8:68,864,630-69,143,613 Size: 278,984 Coding Exon Count: 40 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:68,864,281-69,149,267)mRNA (may differ from genome)Protein (1606 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PREX2_HUMAN
DESCRIPTION: RecName: Full=Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein; Short=P-Rex2; Short=PtdIns(3,4,5)-dependent Rac exchanger 2; AltName: Full=DEP domain-containing protein 2;
FUNCTION: Functions as a RAC1 guanine nucleotide exchange factor (GEF), activating Rac proteins by exchanging bound GDP for free GTP. Its activity is synergistically activated by phosphatidylinositol 3,4,5-trisphosphate and the beta gamma subunits of heterotrimeric G protein. Mediates the activation of RAC1 in a PI3K-dependent manner. May be an important mediator of Rac signaling, acting directly downstream of both G protein- coupled receptors and phosphoinositide 3-kinase.
SUBUNIT: Interacts with RAC1.
TISSUE SPECIFICITY: Isoform 1 is highly expressed in skeletal muscle, heart and placenta, absent from peripheral blood leukocytes. Isoform 2 is expressed in skeletal muscle, kidney, small intestine, and placenta. Isoform 3 is expressed in the heart.
DOMAIN: PH domain confers substrate specificity and recognition. Able to discriminate between RAC1, RHOA, and CDC42.
DOMAIN: DH domain alone was unable to confer substrate specificity and recognition.
SIMILARITY: Contains 2 DEP domains.
SIMILARITY: Contains 1 DH (DBL-homology) domain.
SIMILARITY: Contains 2 PDZ (DHR) domains.
SIMILARITY: Contains 1 PH domain.
SEQUENCE CAUTION: Sequence=AK024079; Type=Frameshift; Positions=1134; Sequence=BAB14375.1; Type=Erroneous initiation;

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: PREX2
Diseases sorted by gene-association score: corneal dystrophy, endothelial, x-linked (11), corneal dystrophy, posterior polymorphous, 1 (8)

-  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: 6.84 RPKM in Brain - Caudate (basal ganglia)
Total median expression: 113.35 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 -159.50349-0.457 Picture PostScript Text
3' UTR -1325.805654-0.234 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
IPR000591 - DEP_dom
IPR000219 - DH-domain
IPR001331 - GDS_CDC24_CS
IPR001478 - PDZ
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR011991 - WHTH_trsnscrt_rep_DNA-bd

Pfam Domains:
PF00169 - PH domain
PF00610 - Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP)
PF00621 - RhoGEF domain

SCOP Domains:
103657 - BAR/IMD domain-like
46785 - "Winged helix" DNA-binding domain
48065 - DBL homology domain (DH-domain)
50156 - PDZ domain-like
50729 - PH domain-like

ModBase Predicted Comparative 3D Structure on Q70Z35
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 DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  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:0005096 GTPase activator activity
GO:0030676 Rac guanyl-nucleotide exchange factor activity

Biological Process:
GO:0006469 negative regulation of protein kinase activity
GO:0007186 G-protein coupled receptor signaling pathway
GO:0008344 adult locomotory behavior
GO:0014065 phosphatidylinositol 3-kinase signaling
GO:0032007 negative regulation of TOR signaling
GO:0035023 regulation of Rho protein signal transduction
GO:0035556 intracellular signal transduction
GO:0043547 positive regulation of GTPase activity
GO:0048813 dendrite morphogenesis

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane


-  Descriptions from all associated GenBank mRNAs
  AJ437636 - Homo sapiens mRNA for P-Rex2 protein.
AY508997 - Homo sapiens P-Rex2B mRNA, complete cds, alternatively spliced.
AY508996 - Homo sapiens P-Rex2 mRNA, complete cds, alternatively spliced.
BC146369 - Synthetic construct Homo sapiens clone IMAGE:100015096, MGC:180201 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2) mRNA, encodes complete protein.
BC148795 - Synthetic construct Homo sapiens clone IMAGE:100015912, MGC:183213 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2) mRNA, encodes complete protein.
AK294299 - Homo sapiens cDNA FLJ56428 complete cds, highly similar to Homo sapiens DEP domain containing 2 (DEPDC2), transcript variant 1, mRNA.
AK023049 - Homo sapiens cDNA FLJ12987 fis, clone NT2RP3000068, weakly similar to SON OF SEVENLESS PROTEIN HOMOLOG 1.
AK024079 - Homo sapiens cDNA FLJ14017 fis, clone HEMBA1000505.
BC068571 - Homo sapiens cDNA clone IMAGE:5303271.
BC036055 - Homo sapiens cDNA clone IMAGE:5277616.
JD324932 - Sequence 305956 from Patent EP1572962.
JD132698 - Sequence 113722 from Patent EP1572962.
JD416758 - Sequence 397782 from Patent EP1572962.
JD537938 - Sequence 518962 from Patent EP1572962.
JD548228 - Sequence 529252 from Patent EP1572962.
AY570973 - Homo sapiens PtdIns(3,4,5)-dependent rac exchanger-2 (PREX2) mRNA, partial cds.
JD449661 - Sequence 430685 from Patent EP1572962.
AK123390 - Homo sapiens cDNA FLJ41396 fis, clone BRCOC2019255.
AK023631 - Homo sapiens cDNA FLJ13569 fis, clone PLACE1008369.
JD020405 - Sequence 1429 from Patent EP1572962.
JD035548 - Sequence 16572 from Patent EP1572962.
JD031316 - Sequence 12340 from Patent EP1572962.

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

Protein Q70Z35 (Reactome details) participates in the following event(s):

R-HSA-8850961 PREX2 binds PTEN and inhibits it
R-HSA-8948751 Regulation of PTEN stability and activity
R-HSA-6807070 PTEN Regulation
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-9006925 Intracellular signaling by second messengers
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: B4DFX0, DEPDC2, ENST00000288368.1, ENST00000288368.2, ENST00000288368.3, ENST00000288368.4, NM_024870, PREX2 , PREX2_HUMAN, Q32KL0, Q32KL1, Q6R7Q3, Q6R7Q4, Q70Z35, Q9H805, Q9H961, uc317kpn.1, uc317kpn.2
UCSC ID: ENST00000288368.5_4
RefSeq Accession: NM_024870.4
Protein: Q70Z35 (aka PREX2_HUMAN)

-  Gene Model Information
  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.