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FLASH GENE

Symbol

ATP13A2

contributors: mct/npt - updated : 12-12-2012

HGNC name	ATPase type 13A2
HGNC id	30213

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CLN12 ceroid-lipofuscinosis, neuronal, 12 PARK9 Parkinson disease 9
Location	1p36.13      Physical location : 17.312.452 - 17.338.423
Synonym name	putative ATPase
Synonym symbol(s)	HSA9947, RP1-37C10.4, FLJ26510, KRPPD
EC.number	3.6.3.8

DNA

TYPE	functioning gene
STRUCTURE	25.97 kb     29 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_022089 29 - 3996 NP_071372 130 1180 . localized to lysosomes 2011 21665991 Isoform 1 10 transmembrane domains NM_001141973 29 - 3981 NP_001135445 128 1175 - 2011 21665991 Isoform 2 containing a small five amino acid in-frame deletion near the N-terminus NM_001141974 27 - 3694 NP_001135446 126 1158 . localized to the ER and rapidly degraded 2011 21665991 Isoform 3 contains an additional downstream in-frame deletion of 117 bases and an out-of-frame deletion of 170 bases removing 39 amino acids and generating a highly diverged C-terminus

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 Digestive intestine small intestine       Endocrine pancreas       highly Nervous brain       predominantly Homo sapiens   nerve cranial nerve     highly Reproductive female system uterus cervix

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

Text

brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

homolog to murine Atp13a2

Homologene

FAMILY	cation transport ATPase (P-type) family
	type V subfamily

CATEGORY

enzyme , transport

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,lysosome
text	wild-type protein was located in the lysosome

basic FUNCTION	having a ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism
	protein with similarity to P-type ATPases
	regulates mitochondrial bioenergetics through macroautophagy
	implicated in vesicular trafficking

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	cation transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding, nucleotide,
	ATP
	ion Mg2+

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PARK9 , CLN12

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   plays a role in SNCA misfolding and toxicity

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

ANIMAL & CELL MODELS