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FLASH GENE

Symbol

ATP2B2

contributors: npt/mct/pgu - updated : 15-11-2016

HGNC name	ATPase, Ca++ transporting, plasma membrane 2
HGNC id	815

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       with mutation of CDH23, leading to sensorineural deafness constitutional     --low   down-regulated early in mammary involution associated with changes in mammary epithelial cell shape tumoral     --over   in breast cancers is associated with poor outcome constitutional     --low   such as occurs in aging brain likely leads to subtle disruptions in normal Ca(2+) signaling and enhanced susceptibility to stresses that can alter the regulation of Ca(2+) homeostasis

Susceptibility

Variant & Polymorphism	variant may modify the severity of sensorineural hearing loss caused by a variety of factors

Candidate gene	for sensorineural hearing loss in 3p25 deletion
Marker
Therapy target
	System Type Disorder Pubmed cancer reproductive breast interactions between ATP2B2 and ERBB2 may represent therapeutic targets for breast cancer cancer reproductive breast interactions between ATP2B2 and ERBB2 may represent therapeutic targets for breast cancer

ANIMAL & CELL MODELS

	mouse mutation, Tommy, causes a non-conservative Glu629Lys change in the second intracellular loop of the pump which harbors the active site, leading to profound hearing impairment from P18, with significant differences in hearing thresholds between wild type and heterozygotes
	Atp2b2 murine mutant overexpressed in model cells displayed an evident defect both in the basal activity of the pump and in the long range ejection of Ca(2+), the human mutant instead failed to impair the Ca(2+) ejection by the pump