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

Gene ID: 80243, updated on 18-Sep-2018

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; Vega:OTTHUMG00000164402
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 Jun 15 11:32:44 2016

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_024870.3NP_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, AJ437636, BI457806, CR936666, R05648
    Consensus CDS
    CCDS6201.1
    UniProtKB/Swiss-Prot
    Q70Z35
    Related
    ENSP00000288368.4, OTTHUMP00000226629, ENST00000288368.4, OTTHUMT00000378620
    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_025170.5NP_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, 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 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    67951918..68237033
    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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