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    PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 [ Homo sapiens (human) ]

    Gene ID: 80243, updated on 15-Jun-2019

    Summary

    Official Symbol
    PREX2provided by HGNC
    Official Full Name
    phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2provided by HGNC
    Primary source
    HGNC:HGNC:22950
    See related
    Ensembl:ENSG00000046889 MIM:612139
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DEP.2; DEPDC2; P-REX2; PPP1R129
    Summary
    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]
    Expression
    Broad expression in fat (RPKM 6.7), brain (RPKM 5.0) and 22 other tissues See more
    Orthologs

    Genomic context

    See PREX2 in Genome Data Viewer
    Location:
    8q13.2
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (67951918..68237033)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (68864244..69143897)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375886 Neighboring gene carboxypeptidase A6 Neighboring gene MT-ATP6 pseudogene 12 Neighboring gene NADH:ubiquinone oxidoreductase subunit S5 pseudogene 6 Neighboring gene uncharacterized LOC105375888 Neighboring gene C8orf34 antisense RNA 1 Neighboring gene ribosomal protein L31 pseudogene 40 Neighboring gene chromosome 8 open reading frame 34

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Rac guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Rac guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    adult locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    dendrite morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylinositol 3-kinase signaling IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of Rho protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein
    Names
    DEP domain-containing protein 2
    PtdIns(3,4,5)-dependent Rac exchanger 2
    protein phosphatase 1, regulatory subunit 129

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_047022.1 RefSeqGene

      Range
      5133..290051
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_024870.4NP_079146.2  phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein isoform a

      See identical proteins and their annotated locations for NP_079146.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC103783, AC104416, AJ437636, BI457806, CR936666, R05648
      Consensus CDS
      CCDS6201.1
      UniProtKB/Swiss-Prot
      Q70Z35
      Related
      ENSP00000288368.4, ENST00000288368.5
      Conserved Domains (6) summary
      cd00992
      Location:677744
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd04439
      Location:382462
      DEP_1_P-Rex; DEP (Dishevelled, Egl-10, and Pleckstrin) domain 1 found in P-Rex-like proteins. The P-Rex family is the guanine-nucleotide exchange factor (GEF) for the small GTPase Rac that contains an N-terminal RhoGEF domain, two DEP and PDZ domains. Rac-GEF ...
      cd04440
      Location:474566
      DEP_2_P-Rex; DEP (Dishevelled, Egl-10, and Pleckstrin) domain 2 found in P-Rex-like proteins. The P-Rex family is the guanine-nucleotide exchange factor (GEF) for the small GTPase Rac that contains an N-terminal RhoGEF domain, two DEP and PDZ domains. Rac-GEF ...
      cd01224
      Location:218364
      PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain
      pfam00169
      Location:248356
      PH; PH domain
      pfam00621
      Location:27213
      RhoGEF; RhoGEF domain
    2. NM_025170.6NP_079446.3  phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein isoform b

      See identical proteins and their annotated locations for NP_079446.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding region compared to variant 1, that causes a frameshift. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC011853, AC104416, AJ437636, AK023049, BI457806
      UniProtKB/Swiss-Prot
      Q70Z35
      Conserved Domains (6) summary
      cd00992
      Location:677744
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd04439
      Location:382462
      DEP_1_P-Rex; DEP (Dishevelled, Egl-10, and Pleckstrin) domain 1 found in P-Rex-like proteins. The P-Rex family is the guanine-nucleotide exchange factor (GEF) for the small GTPase Rac that contains an N-terminal RhoGEF domain, two DEP and PDZ domains. Rac-GEF ...
      cd04440
      Location:474566
      DEP_2_P-Rex; DEP (Dishevelled, Egl-10, and Pleckstrin) domain 2 found in P-Rex-like proteins. The P-Rex family is the guanine-nucleotide exchange factor (GEF) for the small GTPase Rac that contains an N-terminal RhoGEF domain, two DEP and PDZ domains. Rac-GEF ...
      cd01224
      Location:218364
      PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain
      pfam00169
      Location:248356
      PH; PH domain
      pfam00621
      Location:27213
      RhoGEF; RhoGEF domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      67951918..68237032
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517612.3XP_011515914.1  phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein isoform X1

      Conserved Domains (6) summary
      cd00992
      Location:677744
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd04439
      Location:382462
      DEP_1_P-Rex; DEP (Dishevelled, Egl-10, and Pleckstrin) domain 1 found in P-Rex-like proteins. The P-Rex family is the guanine-nucleotide exchange factor (GEF) for the small GTPase Rac that contains an N-terminal RhoGEF domain, two DEP and PDZ domains. Rac-GEF ...
      cd04440
      Location:474566
      DEP_2_P-Rex; DEP (Dishevelled, Egl-10, and Pleckstrin) domain 2 found in P-Rex-like proteins. The P-Rex family is the guanine-nucleotide exchange factor (GEF) for the small GTPase Rac that contains an N-terminal RhoGEF domain, two DEP and PDZ domains. Rac-GEF ...
      cd01224
      Location:218364
      PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain
      pfam00169
      Location:248356
      PH; PH domain
      pfam00621
      Location:27213
      RhoGEF; RhoGEF domain
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