PREX2

Protein-coding gene in the species Homo sapiens
PREX2
Identifiers
AliasesPREX2, 6230420N16Rik, DEP.2, DEPDC2, P-REX2, PPP1R129, phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2
External IDsOMIM: 612139; MGI: 1923385; HomoloGene: 23523; GeneCards: PREX2; OMA:PREX2 - orthologs
Gene location (Human)
Chromosome 8 (human)
Chr.Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for PREX2
Genomic location for PREX2
Band8q13.2Start67,952,046 bp[1]
End68,237,032 bp[1]
Gene location (Mouse)
Chromosome 1 (mouse)
Chr.Chromosome 1 (mouse)[2]
Chromosome 1 (mouse)
Genomic location for PREX2
Genomic location for PREX2
Band1|1 A2Start11,063,689 bp[2]
End11,373,905 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • Achilles tendon

  • endothelial cell

  • visceral pleura

  • corpus callosum

  • ventricular zone

  • parietal pleura

  • epithelium of colon

  • adipose tissue

  • subcutaneous adipose tissue

  • caudate nucleus
Top expressed in
  • left lung lobe

  • lobe of cerebellum

  • cerebellar vermis

  • zygote

  • sciatic nerve

  • lateral septal nucleus

  • tail of embryo

  • otolith organ

  • right lung

  • utricle
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • GTPase activator activity
  • guanyl-nucleotide exchange factor activity
Cellular component
  • cytoplasm
  • plasma membrane
  • cytosol
Biological process
  • adult locomotory behavior
  • phosphatidylinositol 3-kinase signaling
  • G protein-coupled receptor signaling pathway
  • regulation of Rho protein signal transduction
  • intracellular signal transduction
  • dendrite morphogenesis
  • positive regulation of GTPase activity
  • negative regulation of protein kinase activity
  • negative regulation of TOR signaling
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

80243

109294

Ensembl

ENSG00000046889

ENSMUSG00000048960

UniProt

Q70Z35

Q3LAC4

RefSeq (mRNA)

NM_024870
NM_025170

NM_001033636
NM_029525

RefSeq (protein)

NP_079146
NP_079446

NP_001028808
NP_083801

Location (UCSC)Chr 8: 67.95 – 68.24 MbChr 1: 11.06 – 11.37 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 is a protein that in humans is encoded by the PREX2 gene.[5][6]

Clinical relevance

Mutations in this gene have been recurrently seen in melanoma.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000046889 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000048960 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2". Retrieved 2012-05-11.
  6. ^ Rosenfeldt H, Vázquez-Prado J, Gutkind JS (August 2004). "P-REX2, a novel PI-3-kinase sensitive Rac exchange factor". FEBS Lett. 572 (1–3): 167–71. doi:10.1016/j.febslet.2004.06.097. PMID 15304342. S2CID 35668920.
  7. ^ Berger MF, Hodis E, Heffernan TP, Deribe YL, Lawrence MS, Protopopov A, Ivanova E, Watson IR, Nickerson E, Ghosh P, Zhang H, Zeid R, Ren X, Cibulskis K, Sivachenko AY, Wagle N, Sucker A, Sougnez C, Onofrio R, Ambrogio L, Auclair D, Fennell T, Carter SL, Drier Y, Stojanov P, Singer MA, Voet D, Jing R, Saksena G, Barretina J, Ramos AH, Pugh TJ, Stransky N, Parkin M, Winckler W, Mahan S, Ardlie K, Baldwin J, Wargo J, Schadendorf D, Meyerson M, Gabriel SB, Golub TR, Wagner SN, Lander ES, Getz G, Chin L, Garraway LA (May 2012). "Melanoma genome sequencing reveals frequent PREX2 mutations" (PDF). Nature. 485 (7399): 502–6. Bibcode:2012Natur.485..502B. doi:10.1038/nature11071. PMC 3367798. PMID 22622578.

Further reading

  • Donald S, Hill K, Lecureuil C, Barnouin R, Krugmann S, John Coadwell W, Andrews SR, Walker SA, Hawkins PT, Stephens LR, Welch HC (August 2004). "P-Rex2, a new guanine-nucleotide exchange factor for Rac". FEBS Lett. 572 (1–3): 172–6. doi:10.1016/j.febslet.2004.06.096. PMID 15304343. S2CID 31436247.
  • Hernández-Negrete I, Carretero-Ortega J, Rosenfeldt H, Hernández-García R, Calderón-Salinas JV, Reyes-Cruz G, Gutkind JS, Vázquez-Prado J (August 2007). "P-Rex1 links mammalian target of rapamycin signaling to Rac activation and cell migration". J. Biol. Chem. 282 (32): 23708–15. doi:10.1074/jbc.M703771200. PMID 17565979.
  • Joseph RE, Norris FA (July 2005). "Substrate specificity and recognition is conferred by the pleckstrin homology domain of the Dbl family guanine nucleotide exchange factor P-Rex2". J. Biol. Chem. 280 (30): 27508–12. doi:10.1074/jbc.M412495200. PMID 15897194.
  • Fine B, Hodakoski C, Koujak S, Su T, Saal LH, Maurer M, Hopkins B, Keniry M, Sulis ML, Mense S, Hibshoosh H, Parsons R (September 2009). "Activation of the PI3K pathway in cancer through inhibition of PTEN by exchange factor P-REX2a". Science. 325 (5945): 1261–5. Bibcode:2009Sci...325.1261F. doi:10.1126/science.1173569. PMC 2936784. PMID 19729658.
  • Leslie NR (2009). "P-REX2a driving tumorigenesis by PTEN inhibition". Sci Signal. 2 (94): pe68. doi:10.1126/scisignal.294pe68. PMID 19861688. S2CID 19953626.
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