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FLASH GENE

Symbol

PHLDA2

contributors: mct - updated : 27-04-2021

HGNC name	pleckstrin homology-like domain, family A, member 2
HGNC id	12385

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	1.15 kb     2 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

regionally located

. centromeric imprinting domain at 11p15; located between hNAP2 and P57 (KIP2)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003311 2 - 920 NP_003302 - 152 - 2020 32062476

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine       highly   liver       lowly Endocrine pancreas       highly Nervous brain         Reproductive female system placenta     highly Respiratory lung

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	highly in kidney, weakly in liver and lung, highly in placenta

IMPRINTING	paternally
text	paternally imprinted gene (centromeric imprinting domain at 11p15, containing also TSSC5 and KCNQ1) in placenta, liver and fetal brain but not in normal adult brain and blood

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a single pleckstrin homology (PH) domain with short N- and C-terminal extensions

HOMOLOGY

interspecies

homolog to murine Ip1

intraspecies

homolog to PHLDA3

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm

basic FUNCTION	tumor suppressing subchromosomal transferable DNA fragment (STF 3)
	similar to TDAG51 implicated in FAS (APT1) expression and apoptosis
	involved in the tumor development
	imprinted gene important in fetal growth and also as a potential marker of fetal growth
	PHLDA2 exclusively modulates the spongiotrophoblast compartment of the placenta without significantly altering the composition of the trophoblast giant cell endocrine lineages that share a common progenitor with this lineage
	role for placental PHLDA2 in poor perinatal outcomes, specifically fetal growth restriction (FGR) associated with reduced fetal movements (RFM)
	differential expression of PHLDA2 and IGF2 may be one of the causes of selective intrauterine growth restriction

CELLULAR PROCESS	cell life, cell death/apoptosis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

bind to immobilized phosphatidylinositol phosphate with moderate affinity, but this binding is weaker and more promiscuous than that of prototypical PH domains from the general receptor for phosphoinositides (GRP1), phospholipase C delta1, and dual adaptor for phosphoinositides and phosphotyrosine 1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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