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

    Gene ID: 80243, updated on 3-Dec-2024

    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; AllianceGenome:HGNC:22950
    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
    NEW
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    Genomic context

    See PREX2 in Genome Data Viewer
    Location:
    8q13.2
    Exon count:
    42
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (67952046..68237032)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (68378485..68663734)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (68864281..69149267)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375886 Neighboring gene carboxypeptidase A6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:68552088-68552901 Neighboring gene MT-ATP6 pseudogene 12 Neighboring gene Sharpr-MPRA regulatory region 5318 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:68631627-68632132 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:68632133-68632636 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:68632637-68633142 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:68633143-68633647 Neighboring gene Sharpr-MPRA regulatory region 913 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:68644182-68644682 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:68658421-68658921 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:68766696-68767468 Neighboring gene NANOG hESC enhancer GRCh37_chr8:68796257-68797054 Neighboring gene NADH:ubiquinone oxidoreductase subunit S5 pseudogene 6 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:68867393-68868063 Neighboring gene NANOG hESC enhancer GRCh37_chr8:68882966-68883467 Neighboring gene MPRA-validated peak7060 silencer Neighboring gene uncharacterized LOC105375888 Neighboring gene MPRA-validated peak7061 silencer Neighboring gene uncharacterized LOC124901957 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:69114328-69114936 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:69141606-69142185 Neighboring gene MPRA-validated peak7062 silencer Neighboring gene MPRA-validated peak7063 silencer 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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    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)

    NEW Try the new Transcript table

    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
      5064..290050
      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
      B4DFX0, Q32KL0, Q32KL1, Q6R7Q3, Q6R7Q4, Q70Z35, Q9H805, Q9H961
      UniProtKB/TrEMBL
      A0A2X0SZ31
      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
      Related
      ENST00000529398.5
      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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      67952046..68237032
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422268.1XP_047278224.1  phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein isoform X2

    2. XM_047422267.1XP_047278223.1  phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein isoform X1

      UniProtKB/TrEMBL
      A0A2X0SZ31

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      68378485..68663734
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361290.1XP_054217265.1  phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein isoform X2

    2. XM_054361289.1XP_054217264.1  phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein isoform X1

      UniProtKB/TrEMBL
      A0A2X0SZ31