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FLASH GENE

Symbol

ATP13A2

contributors: mct/npt - updated : 23-05-2017

HGNC name	ATPase type 13A2
HGNC id	30213

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

PARK9 , CLN12 , SPG78

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   plays a role in SNCA misfolding and toxicity constitutional         silencing of ATP13A2 expression in cortical and dopaminergic neurons promotes basal mitochondrial fragmentation and sensitizes to the effects of cadmium exposure constitutional       loss of function results in zinc dyshomeostasis and mitochondrial dysfunction

Susceptibility

to Parkinson disease

Variant & Polymorphism other	rare variant of the ATP13A2 associated with an increased risk of Parkinson disease among ethnic Chinese in Asia Lin 2008)

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurology neurodegenerative Parkinson/dementia Parkinsonism increasing ATP13A2 levels may offer potential therapeutic benefits to patients with Lewy body diseases

ANIMAL & CELL MODELS

Atp13a2(-/-) mice displayed late-onset sensorimotor deficits