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Aliases for PREX2 Gene

Aliases for PREX2 Gene

  • Phosphatidylinositol-3,4,5-Trisphosphate Dependent Rac Exchange Factor 2 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 129 2 3
  • PtdIns(3,4,5)-Dependent Rac Exchanger 2 3 4
  • DEP Domain-Containing Protein 2 3 4
  • P-REX2 3 4
  • DEPDC2 3 4
  • Phosphatidylinositol 3,4,5-Trisphosphate-Dependent Rac Exchanger 2 Protein 3
  • Phosphatidylinositol-3,4,5-Trisphosphate-Dependent Rac Exchange Factor 2 2
  • DEP Domain Containing 2 2
  • PPP1R129 3
  • DEP.2 3

External Ids for PREX2 Gene

Previous HGNC Symbols for PREX2 Gene

  • DEPDC2

Previous GeneCards Identifiers for PREX2 Gene

  • GC08P069027
  • GC08P068864
  • GC08P064357

Summaries for PREX2 Gene

Entrez Gene Summary for PREX2 Gene

  • The protein encoded by this gene belongs to the phosphatidylinositol 3,4,5-trisphosphate (PIP3)-dependent Rac exchanger (PREX) family, which are Dbl-type guanine-nucleotide exchange factors for Rac family small G proteins. Structural domains of this protein include the catalytic diffuse B-cell lymphoma homology and pleckstrin homology (DHPH) domain, two disheveled, EGL-10, and pleckstrin homology (DEP) domains, two PDZ domains, and a C-terminal inositol polyphosphate-4 phosphatase (IP4P) domain that is found in one of the isoforms. This protein facilitates the exchange of GDP for GTP on Rac1, allowing the GTP-bound Rac1 to activate downstream effectors. Studies also show that the pleckstrin homology domain of this protein interacts with the phosphatase and tensin homolog (PTEN) gene product to inhibit PTEN phosphatase activity, thus activating the phosphoinositide-3 kinase (PI3K) signaling pathway. Conversely, the PTEN gene product has also been shown to inhibit the GEF activity of this protein. This gene plays a role in insulin-signaling pathways, and either mutations or overexpression of this gene have been observed in some cancers. [provided by RefSeq, Apr 2016]

GeneCards Summary for PREX2 Gene

PREX2 (Phosphatidylinositol-3,4,5-Trisphosphate Dependent Rac Exchange Factor 2) is a Protein Coding gene. Diseases associated with PREX2 include Corneal Dystrophy, Posterior Polymorphous, 1. Among its related pathways are Regulation of RAC1 activity. GO annotations related to this gene include GTPase activator activity and Rac guanyl-nucleotide exchange factor activity. An important paralog of this gene is PREX1.

UniProtKB/Swiss-Prot for PREX2 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PREX2 Gene

Genomics for PREX2 Gene

Regulatory Elements for PREX2 Gene

Enhancers for PREX2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08F067976 0.3 FANTOM5 31.2 +25.1 25139 0.3 PREX2 LOC105375888
GH08F067981 0.5 Ensembl 24.8 +29.9 29918 0.2 PREX2 LOC105375888
GH08F067983 1.1 Ensembl ENCODE 22.2 +32.8 32817 2.9 POLR2A ZNF384 NR2F2 PREX2 LOC105375888
GH08F067967 0.6 Ensembl ENCODE 19.8 +16.7 16673 1.9 HDAC1 MTA2 EBF1 TBX21 EP300 SMARCA4 POLR2A IKZF1 STAT3 NBN PREX2 LOC105375888
GH08F067960 0.5 Ensembl 19.4 +8.5 8518 0.2 PKNOX1 L3MBTL2 ETV1 BHLHE40 DPF2 FEZF1 GABPA CTBP1 GATA3 FOS PREX2 LOC105375888
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PREX2 on UCSC Golden Path with GeneCards custom track

Promoters for PREX2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001393679 717 2200 GLI4 ZNF2 ZEB1 ZNF23 ZNF366 ZNF391 ZNF680 ZNF843 NR2F2 ZFP69B

Genomic Location for PREX2 Gene

Chromosome:
8
Start:
67,951,983 bp from pter
End:
68,237,030 bp from pter
Size:
285,048 bases
Orientation:
Plus strand

Genomic View for PREX2 Gene

Genes around PREX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PREX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PREX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PREX2 Gene

Proteins for PREX2 Gene

  • Protein details for PREX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q70Z35-PREX2_HUMAN
    Recommended name:
    Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein
    Protein Accession:
    Q70Z35
    Secondary Accessions:
    • B4DFX0
    • Q32KL0
    • Q32KL1
    • Q6R7Q3
    • Q6R7Q4
    • Q9H805
    • Q9H961

    Protein attributes for PREX2 Gene

    Size:
    1606 amino acids
    Molecular mass:
    182622 Da
    Quaternary structure:
    • Interacts with RAC1.
    SequenceCaution:
    • Sequence=AK024079; Type=Frameshift; Positions=1134; Evidence={ECO:0000305}; Sequence=BAB14375.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG57581.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for PREX2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PREX2 Gene

Post-translational modifications for PREX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PREX2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PREX2 Gene

Domains & Families for PREX2 Gene

Suggested Antigen Peptide Sequences for PREX2 Gene

Graphical View of Domain Structure for InterPro Entry

Q70Z35

UniProtKB/Swiss-Prot:

PREX2_HUMAN :
  • PH domain confers substrate specificity and recognition. Able to discriminate between RAC1, RHOA, and CDC42.
Domain:
  • PH domain confers substrate specificity and recognition. Able to discriminate between RAC1, RHOA, and CDC42.
  • DH domain alone was unable to confer substrate specificity and recognition.
  • Contains 2 DEP domains.
  • Contains 1 DH (DBL-homology) domain.
  • Contains 2 PDZ (DHR) domains.
  • Contains 1 PH domain.
genes like me logo Genes that share domains with PREX2: view

Function for PREX2 Gene

Molecular function for PREX2 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for PREX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
GO:0005096 GTPase activator activity IDA 15304343
GO:0030676 Rac guanyl-nucleotide exchange factor activity IDA 15304343
genes like me logo Genes that share ontologies with PREX2: view
genes like me logo Genes that share phenotypes with PREX2: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PREX2 Gene

Localization for PREX2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PREX2 Gene COMPARTMENTS Subcellular localization image for PREX2 gene
Compartment Confidence
plasma membrane 3
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for PREX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IBA --
GO:0005886 plasma membrane IEA,IBA --
genes like me logo Genes that share ontologies with PREX2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PREX2 Gene

Pathways & Interactions for PREX2 Gene

SuperPathways for PREX2 Gene

SuperPathway Contained pathways
1 Regulation of RAC1 activity
genes like me logo Genes that share pathways with PREX2: view

Pathways by source for PREX2 Gene

1 BioSystems pathway for PREX2 Gene

Gene Ontology (GO) - Biological Process for PREX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006469 negative regulation of protein kinase activity IBA --
GO:0007186 G-protein coupled receptor signaling pathway IDA 15304343
GO:0008344 adult locomotory behavior IEA --
GO:0014065 phosphatidylinositol 3-kinase signaling IEA --
GO:0032007 negative regulation of TOR signaling IBA --
genes like me logo Genes that share ontologies with PREX2: view

No data available for SIGNOR curated interactions for PREX2 Gene

Drugs & Compounds for PREX2 Gene

(3) Drugs for PREX2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with PREX2: view

Transcripts for PREX2 Gene

Unigene Clusters for PREX2 Gene

Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PREX2 Gene

No ASD Table

Relevant External Links for PREX2 Gene

GeneLoc Exon Structure for
PREX2
ECgene alternative splicing isoforms for
PREX2

Expression for PREX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PREX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PREX2 Gene

This gene is overexpressed in Liver (62.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PREX2 Gene



Protein tissue co-expression partners for PREX2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PREX2 Gene:

PREX2

SOURCE GeneReport for Unigene cluster for PREX2 Gene:

Hs.591867

mRNA Expression by UniProt/SwissProt for PREX2 Gene:

Q70Z35-PREX2_HUMAN
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.
genes like me logo Genes that share expression patterns with PREX2: view

Primer Products

No data available for mRNA differential expression in normal tissues for PREX2 Gene

Orthologs for PREX2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PREX2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PREX2 34 35
  • 99.63 (n)
oppossum
(Monodelphis domestica)
Mammalia PREX2 35
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PREX2 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PREX2 34 35
  • 93.06 (n)
cow
(Bos Taurus)
Mammalia PREX2 34 35
  • 91.88 (n)
mouse
(Mus musculus)
Mammalia Prex2 34 16 35
  • 86.92 (n)
rat
(Rattus norvegicus)
Mammalia Prex2 34
  • 86.06 (n)
chicken
(Gallus gallus)
Aves PREX2 34 35
  • 82.09 (n)
lizard
(Anolis carolinensis)
Reptilia PREX2 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prex2 34
  • 77.42 (n)
zebrafish
(Danio rerio)
Actinopterygii PREX2 35
  • 79 (a)
OneToOne
si:ch211-278g15.1 34
  • 71.44 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 37 (a)
OneToMany
Species where no ortholog for PREX2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PREX2 Gene

ENSEMBL:
Gene Tree for PREX2 (if available)
TreeFam:
Gene Tree for PREX2 (if available)

Paralogs for PREX2 Gene

(11) SIMAP similar genes for PREX2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PREX2: view

Variants for PREX2 Gene

Sequence variations from dbSNP and Humsavar for PREX2 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs147538692 A colorectal cancer sample 68,077,436(+) TTGGC(A/G)TTGGA reference, missense
VAR_035974 A colorectal cancer sample
rs193920825 Uncertain significance 68,069,831(+) TTTAC(A/G)TAGGG intron-variant
rs199776134 Uncertain significance 68,077,406(+) ATTGC(A/C/T)GCACC reference, missense
rs745857499 Uncertain significance 68,022,127(+) AATCC(A/G)GACAT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PREX2 Gene

Variant ID Type Subtype PubMed ID
dgv1187n67 CNV loss 20364138
esv1003125 CNV loss 20482838
esv1007762 CNV gain 20482838
esv1972864 CNV deletion 18987734
esv2472681 CNV deletion 19546169
esv2661141 CNV deletion 23128226
esv26684 CNV loss 19812545
esv26870 CNV loss 19812545
esv2737124 CNV deletion 23290073
esv2737125 CNV deletion 23290073
esv3302456 CNV tandem duplication 20981092
esv3302806 CNV tandem duplication 20981092
esv3360003 CNV duplication 20981092
esv3386769 CNV duplication 20981092
esv3543615 CNV deletion 23714750
esv3572805 CNV loss 25503493
nsv1068714 OTHER inversion 25765185
nsv1115103 CNV deletion 24896259
nsv396474 CNV deletion 16902084
nsv396660 CNV insertion 16902084
nsv471757 CNV loss 16327809
nsv507472 OTHER sequence alteration 20534489
nsv512051 CNV loss 21212237
nsv611460 CNV loss 21841781
nsv611461 CNV loss 21841781
nsv6241 CNV insertion 18451855
nsv819415 CNV gain 19587683
nsv831347 CNV gain 17160897
nsv956045 CNV deletion 24416366

Variation tolerance for PREX2 Gene

Residual Variation Intolerance Score: 4.89% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.22; 81.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PREX2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PREX2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PREX2 Gene

Disorders for PREX2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PREX2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
corneal dystrophy, posterior polymorphous, 1
  • corneal endothelial dystrophy 1, autosomal dominant
- elite association - COSMIC cancer census association via MalaCards
Search PREX2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PREX2

Genetic Association Database (GAD)
PREX2
Human Genome Epidemiology (HuGE) Navigator
PREX2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PREX2
genes like me logo Genes that share disorders with PREX2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PREX2 Gene

Publications for PREX2 Gene

  1. P-REX2, a novel PI-3-kinase sensitive Rac exchange factor. (PMID: 15304342) Rosenfeldt H. … Gutkind J.S. (FEBS Lett. 2004) 2 3 4 64
  2. P-Rex2, a new guanine-nucleotide exchange factor for Rac. (PMID: 15304343) Donald S. … Welch H.C.E. (FEBS Lett. 2004) 2 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Substrate specificity and recognition is conferred by the pleckstrin homology domain of the Dbl family guanine nucleotide exchange factor P-Rex2. (PMID: 15897194) Joseph R.E. … Norris F.A. (J. Biol. Chem. 2005) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for PREX2 Gene

Sources for PREX2 Gene

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