Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol PHLDA2 contributors: mct - updated : 27-04-2021
HGNC name pleckstrin homology-like domain, family A, member 2
HGNC id 12385
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   LOI    
in brain tumor
constitutional   LOI    
is associated with abnormal placental development and fetal growth restriction
constitutional     --over  
of the maternally expressed imprinted gene PHLDA2, has been reported in the placenta of growth restricted pregnancies
Susceptibility to variation of birth weight
Variant & Polymorphism other
  • promoter variant in the imprinted PHLDA2 gene significantly increases birth weight
  • Candidate gene
  • may be a candidate for contributing to the reduced growth rate of DICER1-deficient cells (Tang 2007)
  • placental PHLDA2 expression could be candidate marker to identify or sub-classify growth restricted infants and to inform more effective interventions and treatment for IUGR in the future
  • Marker
  • placental CDKN1C, PHLDA2 and IGF2 level monitoring may be useful for predicting and preventing the development of child small for gestational age (SGA)
  • Therapy target
    ANIMAL & CELL MODELS