Pleckstrin homology-like domain family A member 2 (PHLDA2)

Pleckstrin homology-like domain family A member 2 (PHLDA2) is an imprinted, maternally expressed gene located on chromosome 11p15.5, a region critical for growth regulation and tumor suppression[1][4]. PHLDA2 plays a pivotal role in controlling placental development and fetal growth: its overexpression is associated with intrauterine growth restriction, low birth weight, spontaneous pregnancy loss, and certain imprinting disorders such as Beckwith-Wiedemann syndrome[1][2][3][4]. In the placenta, high PHLDA2 expression limits trophoblast proliferation, migration, and glycogen accumulation, leading to placental insufficiency. Aberrant expression is also implicated in the progression of several cancers, where it modulates cell survival, proliferation, and invasiveness, partly via the PI3K/AKT/mTOR pathway. While not a classical therapeutic target (receptor, enzyme, etc.), PHLDA2 serves both as a mechanistic gene in developmental biology and a potential biomarker in obstetrics and oncology[1][3][4].

Other names

BWR1CHLDA2IPLTSSC3p17-BWR1CBeckwith-Wiedemann syndrome chromosomal region 1 candidate gene C proteinImprinted in placenta and liver proteinTumor-suppressing STF cDNA 3 proteinTumor-suppressing subchromosomal transferable fragment candidate gene 3 proteinp17-Beckwith-Wiedemann region 1 Ctumor suppressing subtransferable candidate 3tumor-supressing STF cDNA 3