PREX2

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

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
Gene location (Human)
Chr.Chromosome 8 (human)[1]
Band8q13.2Start67,952,046 bp[1]
End68,237,032 bp[1]
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: 10.99 – 11.3 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Clinical relevance

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

References

  1. GRCh38: Ensembl release 89: ENSG00000046889 - Ensembl, May 2017
  2. 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.
  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. doi:10.1038/nature11071. PMC 3367798. PMID 22622578.

Further reading


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