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FLASH GENE

Symbol

ATP1B2

contributors: mct - updated : 09-03-2010

HGNC name	ATPase, Na+/K+ transporting, beta 2 polypeptide
HGNC id	805

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	6.84 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter (TATA box)
	Binding site   transcription factor
motif	repetitive sequence   ALU
text structure	Sp1 site,Alu in 3'utr

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - TNK1 - NEUROD2 - CHRNB1 - FGF11 - POLR2A - TNFSF13 - TNFSF12 - CD68 - EIF4A1 - FXR2 - SHBG - TP53 - ATP1B2 - ALOX12 - VAMP2 - CHD3 - KDM6B - cen
Authors	Cousin (00)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001678 7 - 3350 NP_001669 - 290 - Hsieh 1990

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 Cardiovascular heart         Nervous brain hindbrain cerebellum     Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum cardiac     Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous glia

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

GlycoP

HOMOLOGY

interspecies	homolog to murine Atp1b2 (97.2pc)
	homolog to rattus Atp1b2 (97.9pc)

Homologene

FAMILY

X(+)/potassium ATPases subunit beta family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	part of the active enzyme responsible for establishing and maintaining the electrochemical gradients of Na and K ions accross the plasma membrane
	exact role of the beta-subunit is unknown
	may regulate, through the assembly with alpha/beta heterodimers, the number of sodium pumps transported to plasma membrane

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

active transport

text	Na+, K+ pump

PATHWAY

metabolism

signaling

a component	complexing with ATP1A3 and maybe others
	non catalytic component of the active enzyme, composed at least of the alpha, beta and gamma subunits

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP binding

protein	binding to ATP1A3
	binding to ATP1AX
	ATP1A3 and ATP1B2 are binding partners of retinoschisin (predominant role of Na/K-ATPase in anchoring retinoschisin to retinal cell surfaces)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   significantly lower in secondary and primary glioblastomas than in diffuse astrocytomas grade II, due to promoter hypermethylation (Van den Boom 2006)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS