PREX2 - phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 Gene

Also Known as DEP.2; DEPDC2; P-REX2; PPP1R129

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 80243

About PREX2

Cytogenetic location: 8q13.2 Genomic coordinates (GRCh38): 8:67,952,046-68,237,032 (from NCBI)

This gene has 5 transcripts (splice variants), 214 orthologues, 3 paralogues and is associated with 116 phenotypes. Broad expression in fat (RPKM 6.7), brain (RPKM 5.0) and 22 other tissues.

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]

PREX2 Products (2)

mRNA Protein Name
NM_024870.4 NP_079146.2 phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein isoform a
NM_025170.6 NP_079446.3 phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein isoform b
Molecular Function GO Annotation Evidence References Source
enables GTPase activator activity IDA
IDA: Inferred from direct assay
15304343 GOA
enables guanyl-nucleotide exchange factor activity IDA
IDA: Inferred from direct assay
15304343 GOA
Biological Process GO Annotation Evidence References Source
acts upstream of or within G protein-coupled receptor signaling pathway IDA
IDA: Inferred from direct assay
15304343 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PREX2 Protein Structure

RhoGEF

RhoGEF: RhoGEF domain (27 - 213)

DEP

DEP: Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP) (396 - 462)

DEP

DEP: Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP) (497 - 563)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (682 - 739)

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  • 1606 a.a.
Protein Preferred Names Protein Names

phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein

  • DEP domain-containing protein 2

Related Diseases

Diseases Alias
Arteriovenous Malformations Of The Brain
  • Cerebral Arteriovenous Malformation

  • Intracranial Arteriovenous Malformation

  • Intracranial Hemorrhage In Brain Cerebrovascular Malformations, Susceptibility To

  • Intracranial Arteriovenous Malformations

  • Bavm

  • Cerebral Arteriovenous Malformations

  • Intracranial Hemorrhage In Brain Cerebrovascular Malformations

  • Arteriovenous Malformation Of The Brain, Somatic

  • Intracranial Avm

  • Arteriovenous Malformations Cerebral

Melanoma
  • Malignant Melanoma

  • Cutaneous Melanoma

  • Naevocarcinoma

  • Malignant Melanomas

Melanoma, Cutaneous Malignant 1
  • Familial Melanoma

  • Melanoma, Cutaneous Malignant, Susceptibility To, 1

  • Melanoma, Malignant

  • CMM1

  • Melanoma, Cutaneous Malignant

  • Cmm

  • Familial Atypical Mole-Malignant Melanoma Syndrome

  • Fammm

  • Melanoma, Familial

  • Mlm

  • Dysplastic Nevus Syndrome, Hereditary

  • Dns

  • B-K Mole Syndrome

  • Melanoma, Cutaneous Malignant, 1

  • Malignant Melanoma, Cutaneous

  • Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1

  • Dysplastic Nevus Syndrome

  • Cutaneous Melanoma

  • Familial Atypical Mole Melanoma Syndrome

  • Hereditary Melanoma

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus PREX2 MGD MGI:1923385
Macaca mulatta PREX2 VGNC VGNC:76302
Bos taurus PREX2 VGNC VGNC:33312
Canis familiaris PREX2 VGNC VGNC:44963
Felis catus PREX2 VGNC VGNC:64352
Rattus norvegicus PREX2 RGD RGD:1307865
Others PREX2 NCBI