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FLASH GENE

Symbol

ATP2B3

contributors: mct - updated : 15-11-2016

HGNC name	ATPase, Ca++ transporting, plasma membrane 3
HGNC id	816

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	46.80 kb     21 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001001344 20 - 6420 135 1220 - 2012 22912398 contains a longer and distinct C-terminus isoform 3b NM_021949 21 - 6574 129 1173 - 2012 22912398 the longer transcript, but encodes the shorter isoform isoform 3a

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       predominantly Homo sapiens   brain hindbrain cerebellum   highly Homo sapiens

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Nervous Purkinje cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	10 transmembrane domains
	two large intracellular loops
	and N- and C-terminal cytoplasmic tails
	a C-terminal domain referred to as a regulatory domain , and C-terminal tail contains the regulatory calmodulin (CaM)-binding domain, which interacts with two sites in the two cytosolic loops of the pump autoinhibiting the pump at rest

HOMOLOGY

interspecies

homolog to murine Atp2b3

Homologene

FAMILY

cation transport ATPases family

CATEGORY

transport carrier

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

basic FUNCTION	ATPase, Ca++ transporting, B3 plasma membrane
	mediating the extrusion of CA2+ from the cell
	in the cerebellar cortex, ATP2B2 and ATP2B3 were at highest levels within synaptic profiles, but ATP2B2 was postsynaptic and ATP2B3 was presynaptic
	extrude Ca2+ from cells, maintaining the resting level of intracellular Ca2+ and controlling the Ca2+ transients induced by agonists
	importance of oligomerization for the regulation of ATP2B3 activity and intracellular calcium concentration
	extrude Ca2+ from the cell, playing a key role in neuronal Ca2+ homeostasis
	ATP2B2, ATP2B3 are mainly responsible for transport of protons to intracellular milieu
	plays an important role in the regulation of neuronal Ca(2+)
	ATP2B2, ATP2B3 respond to a rapid removal of Ca(2+) and are expressed predominantly in excitable cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	ATP
	magnesium

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SCAX1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral somatic mutation       in Aldosterone-producing adenomas (APAs) constitutional germinal mutation       associated with mutations in LAMA1 in a patient with global developmental delay, generalized hypotonia and cerebellar ataxia constitutional somatic mutation       in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension

Susceptibility

to adrenal aldosterone-producing adenomas (APAs)

Variant & Polymorphism other	APA-associated ATP2B3(Leu425_Val426del) mutation appeared to have a reduced capacity to export Ca(2+) suggesting a loss of the physiological pump function

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS