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FLASH GENE

Symbol

PLP2

contributors: mct - updated : 23-05-2016

HGNC name	proteolipid protein 2 (colonic epithelium-enriched)
HGNC id	9087

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	Xp11.23      Physical location : 49.028.183 - 49.031.466
Synonym name	A4 differentiation dependent protein
	intestinal membrane A4 protein
Synonym symbol(s)	A4, A4-LSB, MGC126187

DNA

TYPE	functioning gene
STRUCTURE	3.29 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_002668 5 - 1049 NP_002659 16 152 - 2014 24604726

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 Nervous brain hindbrain cerebellum       brain limbic system hippocampus     Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Nervous pyramidal cell Homo sapiens not specific granular cell

cell lineage
cell lines	differentially, in colonic epithelial cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four transmembrane segments (4TM)
	a MARVEL domain

conjugated

GlycoP , LipoP

mono polymer

homomer , polymer

HOMOLOGY

interspecies	homolog to rattus Plp2 (84.1 pc)
	homolog to murine Plp2 (80.1 pc)

Homologene

FAMILY

integral membrane protein (proteolipids) family

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	integral membrane protein

basic FUNCTION	play a role in cell differentiation in the epithelium
	acting as an ion transmembrane transporter
	critical function to PLP2 for viral ligase activity

CELLULAR PROCESS	cell life, differentiation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

	chemotaxis
	cytokine and chemokine mediated signaling pathway

a component

INTERACTION

DNA

RNA

small molecule

protein	PLP2 (multimerize)
	chemokine
	physically interacting with CCT
	CCR1
	PLP2 binds specifically to PI3K, thus activating AKT1, and aids metastasis
	PLP2 and RAB5C are novel TPD52 binding partners

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   directly promotes resistance to ER stressors

Susceptibility

to X-linked mental retardation (XLMR)

Variant & Polymorphism SNP	PLP2-(-113C>A) is sufficient to cause reduced expression and is enriched in a cohort of males with probable XLMR

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Plp2-deficient mice show increased neuronal death to ER stress and hypoxia in vitro and in a neonatal hypoxia-ischemia model