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FLASH GENE

Symbol

ESRP2

contributors: mct - updated : 27-04-2018

HGNC name	epithelial splicing regulatory protein 2
HGNC id	26152

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	7.69 kb     15 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_024939 15 - 4021 NP_079215 - 717 - 2009 19829082

EXPRESSION

Type

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 mouth palate       Homo sapiens Fetal

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining       Homo sapiens Fetal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

intraspecies

paralog to ESRP1

Homologene

FAMILY

CATEGORY

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm

basic FUNCTION	ESRP1 and ESRP2 are coordinators of an epithelial cell-type-specific splicing program
	ESRP1 and ESRP2 are cell-type-specific regulators of transcripts that switch splicing during the epithelial-mesenchymal transition (EMT)
	regulator of epithelial mRNA splicing
	ESRP1 and ESRP2 regulate alternative splicing events associated with epithelial phenotypes of cells, and both are down-regulated during the epithelial-mesenchymal transition
	ESRP1 and ESRP2 are required for mammalian development, including establishment of epidermal barrier functions
	ESRP1 and ESRP2 control the epithelial-to-mesenchymal transition (EMT) splicing program in cancer

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

ablation of ESRP1 and ESRP2 impairs epithelial tight junction (TJ) integrity through loss of the epithelial isoform of Rho GTP exchange factor ARHGEF11

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   of ESRP1 and ESRP2 is thus closely associated with a motile phenotype of cancer cells tumoral     --over   in primary prostate cancer

Susceptibility

to Non-Syndromic Cleft Lip with or without Cleft Palate (NS-CL/P)

Variant & Polymorphism other

pathogenic variants identified in PLEKHA5 in cases of NS-CL/P

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS