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FLASH GENE

Symbol

SLC8A2

contributors: mct/npt - updated : 10-09-2009

HGNC name	solute carrier family 8 (sodium-calcium exchanger), member 2
HGNC id	11069

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	43.20 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_015063 10 - 5111 NP_055878 - 921 - -

EXPRESSION

Type	restricted

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       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

eleven transmembrane segments (11TM) protein with a large cytoplasmic loop

HOMOLOGY

Homologene

FAMILY	sodium/potassium/calcium exchanger family
	SLC8 subfamily

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
text	co-localized with APP in synaptic terminals

basic FUNCTION	rapid transport of Ca2+ during excitation contraction, preventing overloading of intracelular stores
	play a crucial role in ionic regulation because they are the major bidirectional system promoting the efflux and influx of Na(+) and Ca(2+) ions (Formisano 2008)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

active transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP dependent

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   co-localized with APP in synaptic terminals and with SLC8A2, SLC8A3, are up-regulated in nerve terminals containing APP, in cerebral cortex affected by Alzheimer disease

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS