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FLASH GENE

Symbol

ATP1A2

contributors: npt/mct - updated : 21-02-2020

HGNC name	ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide
HGNC id	800

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AHPC alternating hemiplegia of childhood DEE98 developmental and epileptic encephalopathy 98 FARIMPD fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies MHP2 migraine familial hemiplegic, 2
Location	1q23.2      Physical location : 160.085.519 - 160.113.372
Synonym name	sodium/potassium-transporting ATPase alpha-2 chain
	Na+/K+ ATPase 2
	sodium pump 2
	sodium/potassium-transporting ATPase alpha-2 chain
Synonym symbol(s)	KIAA0778, FHM2, MGC59864, FARIMPD, MHP2
EC.number	3.6.3.9/ 7.2.2.13

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
text	arranged in tandem with ATP1A4
STRUCTURE	27.85 kb     23 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter (TATA box)
	Binding site   enhancer   transcription factor
text structure	numerous AP-1, AP-2, NF-1 binding sites
	a potential Sp1 recognition site

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000702 23 - 5496 NP_000693 - 1020 - 2021 33880529

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 Cardiovascular heart         Hearing/Equilibrium ear inner cochlea   highly Nervous brain diencephalon amygdala   highly   spinal cord         Reproductive male system prostate       Visual eye uvea choroid

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective         Epithelial barrier/lining retinal pigment epithelium (RPE)     Muscular         Nervous central

cells

System Cell Pubmed Species Stage Rna symbol Nervous astrocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	E1-E2 ATPase
	haloacid dehalogenase-like hydrolase domain
	cation transporting ATPase, C-terminus domain

HOMOLOGY

interspecies

homolog to murine Atp1a2

intraspecies

paralog to ATP1A1, ATP1A3

Homologene

FAMILY	cation transport ATPase (P-type) family
	subfamily of Na+/K+ -ATPases

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endosome

basic FUNCTION	osmotic balance and cell volume stability
	catalyzing the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

active transport

text	maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle

PATHWAY

metabolism

signaling

a component

complexing with ATP1B2 and maybe others

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP

protein	binding to ATP1B2
	GPNMB promotes glioma growth via ATP1A1, ATP1A2, ATP1A3, ATP1A4

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MHP2 , AHPC , DEE98 , FARIMPD

Susceptibility

to bipolar disorders

Variant & Polymorphism SNP	increasing the risk of bipolar disorders (Goldstein 2009)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS