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Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 3, mRNA.

Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu25690 Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 3, mRNA. pcDNA3.1+-DYK On-demand TBD 25
OHu25690C Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 3, mRNA. Customized vector On-demand TBD 25

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_001141974.2, 636742893
Length 3477 bp
Update Date 22-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 3, mRNA.
Product probable cation-transporting ATPase 13A2 isoform 3

Summary: This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008].

Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, and lacks two alternate exons in the 3' coding region which results in a frameshift, compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct C-terminus, compared to isoform 1. The transcript contains an upstream ORF that could encode a 103aa protein and may modulate translation from the downstream ORF encoding isoform 3.

RefSeq NP_001135446.1
CDS 235..3711
Misc Feature(1)217..219
Misc Feature(2)217..219
Misc Feature(3)349..3336
Misc Feature(4)349..3336
Misc Feature(5)349..726
Misc Feature(6)1006..1704
Misc Feature(7)<2101..2214
Misc Feature(8)<2407..2763
Misc Feature(9)<2650..>2799
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Position Chain Variation Link
Gene SymbolATP13A2
Gene SynonymCLN12; HSA9947; KRPPD; PARK9
Locus Map1p36
Title ATP13A2 deficiency induces a decrease in cathepsin D activity, fingerprint-like inclusion body formation, and selective degeneration of dopaminergic neurons .
Author Matsui H, Sato F, Sato S, Koike M, Taruno Y, Saiki S, Funayama M, Ito H, Taniguchi Y, Uemura N, Toyoda A, Sakaki Y, Takeda S, Uchiyama Y, Hattori N and Takahashi R.
Journal FEBS Lett. 587 (9), 1316-1325 (2013)
Title The role of the Ala746Thr variant in the ATP13A2 gene among Chinese patients with Parkinson's disease .
Author Chan AY, Baum L, Tang NL, Lau CY, Ng PW, Hui KF, Mizuno Y, Kwan JY, Mok VC and Kuo SH.
Journal J Clin Neurosci 20 (5), 761-762 (2013)
Title Parkinson's disease-associated human P5B-ATPase ATP13A2 increases spermidine uptake .
Author De La Hera DP, Corradi GR, Adamo HP and De Tezanos Pinto F.
Journal Biochem. J. 450 (1), 47-53 (2013)
Title Early-onset autosomal-recessive parkinsonian-pyramidal syndrome .
Author Lai HJ, Lin CH and Wu RM.
Journal Acta Neurol Taiwan 21 (3), 99-107 (2012)
Title Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase .
Author Ramirez A, Heimbach A, Grundemann J, Stiller B, Hampshire D, Cid LP, Goebel I, Mubaidin AF, Wriekat AL, Roeper J, Al-Din A, Hillmer AM, Karsak M, Liss B, Woods CG, Behrens MI and Kubisch C.
Journal Nat. Genet. 38 (10), 1184-1191 (2006)
Title Characterization of the P5 subfamily of P-type transport ATPases in mice .
Author Schultheis PJ, Hagen TT, O'Toole KK, Tachibana A, Burke CR, McGill DL, Okunade GW and Shull GE.
Journal Biochem. Biophys. Res. Commun. 323 (3), 731-738 (2004)
Title Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36 .
Author Hampshire DJ, Roberts E, Crow Y, Bond J, Mubaidin A, Wriekat AL, Al-Din A and Woods CG.
Journal J. Med. Genet. 38 (10), 680-682 (2001)
Title Neurodegeneration with Brain Iron Accumulation Disorders Overview .
Author Gregory A and Hayflick S.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Neuronal Ceroid-Lipofuscinoses .
Author Mole SE and Williams RE.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Parkinson Disease Overview .
Author Farlow J, Pankratz ND, Wojcieszek J and Foroud T.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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