ATP13A2 Gene

Aliases
for ATP13A2 gene

Previous GC identifers: GC01M017058 GC01M017185 GC01M015556

Summaries
for ATP13A2 gene

Genomic Views
for ATP13A2 gene

RefSeq DNA sequence:

NC_000001.10  NC_018912.1  NT_004610.19  

SwitchGear Promoter luciferase reporter plasmid: ATP13A2 promoter sequence

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP13A2

ATP13A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M017312:  view genomic region     (about GC identifiers)

Proteins
for ATP13A2 gene

Explore the universe of human proteins at neXtProt for ATP13A2: NX_Q9NQ11

Post-translational modifications:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for ATP13A2
	GenScript Custom Purified and Recombinant Proteins Services for ATP13A2
	Novus Biologicals ATP13A2 Proteins
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for ATP13A2

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	Cell Signaling Technology (CST) Antibodies for ATP13A2
	OriGene Antibodies: ATP13A2 OriGene Custom Antibody Services for ATP13A2
	GenScript Custom Superior Antibodies Services for ATP13A2
	Novus Biologicals ATP13A2 Antibodies
	Abcam antibodies for ATP13A2
	Uscn Antibodies for ATP13A2
	ThermoFisher Antibody for ATP13A2

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for ATP13A2
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for ATP13A2

Protein Domains /
Families
for ATP13A2 gene

ProtoNet protein and cluster: Q9NQ11

Function
for ATP13A2 gene

     Enzyme Numbers (IUBMB): EC 3.6.3.5² EC 3.6.3.8² EC 3.6.3² EC 3.6.3.-¹

     Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ATP13A2

miRNA Products:		OriGene 3'-UTR Clone (see all 2): ATP13A2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATP13A2
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate ATP13A2
		SwitchGear 3'UTR luciferase reporter plasmid: ATP13A2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ATP13A2 (see all 4) OriGene shRNA RFP: ATP13A2 OriGene siRNA: ATP13A2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATP13A2
		Sirion Biotech Custom design and validation of potent shRNA sequences against ATP13A2

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for ATP13A2
			Sirion Biotech Customized adenovirus for overexpression of ATP13A2  Sirion Biotech Customized adenovirus for potent knockdown of ATP13A2

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATP13A2 (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATP13A2 (see all 4) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): ATP13A2 (NM_022089)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATP13A2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP13A2

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ATP13A2
		Search LifeMap BioReagents cell lines for ATP13A2
		Sirion Biotech Customized stable knockdown cell line services for ATP13A2  Sirion Biotech Customized inducible knockdown cell line services for ATP13A2 Sirion Biotech Customized stable overexpressing cell line services for ATP13A2 Sirion Biotech Customized inducible overexpressing cell line services for ATP13A2

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP13A2

Pathways & Interactions
for ATP13A2 gene

	Super-pathway	contained gene-specific pathways
1	Neuroscience	Neuroscience 1.00

1 Cell Signaling Technology (CST) Pathway for ATP13A2

Neuroscience

Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

Drugs & Compounds
for ATP13A2 gene

Transcripts
for ATP13A2 gene

Expression
for ATP13A2 gene

ATP13A2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATATTTTCCT

About this image
See ATP13A2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ATP13A2

SOURCE GeneReport for Unigene cluster: Hs.128866

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATP13A2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ATP13A2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATP13A2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATP13A2

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP13A2

Orthologs
for ATP13A2 gene

Paralogs
for ATP13A2 gene

Paralogs for ATP13A2 gene

ATP13A3²  ATP13A5²  ATP13A4²  

3 SIMAP similar genes for ATP13A2 using alignment to 10 protein entries:     AT132_HUMAN (see all proteins):

ATP13A4    ATP13A3    ATP13A5

ATP13A2 for paralogs           About GeneDecksing

Genomic Variants
for ATP13A2 gene

10/582 NCBI SNPs in ATP13A2 are shown (see all 582)     About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1426161301,2	C,F	other	15567681(+)	CCGCCG/AGTGTG	6	/R /W	mis1		1		NA	4546
rs345852391,2	C,F	--	15557120(+)	CCTCAG/TCGCCA	5	M L	int1 mis1		3		NA	6
rs94357351,2	C,A,H	--	15557293(+)	CGGCCA/GGCACC	3	--	int1		1		CSA	1
rs563090441,2	C	--	15557324(-)	GAGGGAGGAGCC   CTGGG/-GTGCT	3	--	int1		1		CSA	2
rs1996552511,2	C	--	15560721(+)	GGCTGG/TGGGGG	6	T P	mis1		0	--	--	--	--
rs561700271,2	C	--	15560787(-)	TCATCA/C/GTCCAC	9	I L V	mis1		1		NA	4512
rs776307881,2	C	--	15560804(+)	GCTCCG/TGGGGG	6	Q P	mis1		0	--	--	--	--
rs75354781,2	C	--	15560941(+)	GAAAAC/TAGGct	3	--	int1		0	--	--	--	--
rs763406331,2	F	--	15561046(+)	GAAGGG/CTCTTA	3	--	int1		1		EA	120
rs1166272681,2	C,F	--	15561431(+)	CTGCCA/GAGTGC	3	--	int1		1		WA	118

HapMap Linkage Disequilibrium report for ATP13A2 (17312453 - 17338423 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for ATP13A2
     3 CNVs: 4212 3284 4211
Human Gene Mutation Database (HGMD): ATP13A2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATP13A2

DNA2.0 Custom Variant and Variant Library Synthesis for ATP13A2

Disorders / Diseases
for ATP13A2 gene

Publications
for ATP13A2 gene

PubMed articles for ATP13A2 gene, integrated from 9 sources (see all 55) (see top 10): (articles sorted by number of sources associating them with ATP13A2)

Utopia: connect your pdf to the dynamic world of online information

1. Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. (PubMed id 16964263)^{1, 2, 3} Ramirez A....Kubisch C. (2006)
2. PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity. (PubMed id 22186024)^{1, 2} Ramonet D.... Moore D.J. (2012)
3. Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability. (PubMed id 20853184)^{1, 2} Santoro L....Bonifati V. (2011)
4. Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism. (PubMed id 21542062)^{1, 2} Park J.S.... Sue C.M. (2011)
5. ATP13A2 variability in Parkinson disease. (PubMed id 19085912)^{1, 2} Vilarino-Guell C....Farrer M.J. (2009)
6. Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore. (PubMed id 19015489)^{1, 2} Lin C.H.... Wu R.M. (2008)
7. PARK9-linked parkinsonism in eastern Asia: mutation detection in ATP13A2 and clinical phenotype. (PubMed id 18413573)^{1, 2} Ning Y.P....Hattori N. (2008)
8. ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. (PubMed id 17485642)^{1, 2} Di Fonzo A....Bonifati V. (2007)
9. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (2006)
10. Characterization of the P5 subfamily of P-type transport ATPases in mice. (PubMed id 15381061)^{1, 3} Schultheis P.J....Shull G.E. (2004)
11. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
12. ATP13A2 (PARK9) polymorphisms influence the neurotoxic effects of manganese. (PubMed id 22285144)¹ Rentschler G....Broberg K. (2012)
13. ATP13A2 mutations impair mitochondrial function in fib roblasts from patients with Kufor-Rakeb syndrome. (PubMed id 22296644)¹ Grunewald A....Klein C. (2012)
14. The role of the Parkinson's disease gene PARK9 in esse ntial cellular pathways and the manganese homeostasis network in yeast. (PubMed id 22457822)¹ Chesi A....Gitler A.D. (2012)
15. Mutation of the parkinsonism gene ATP13A2 causes neuro nal ceroid-lipofuscinosis. (PubMed id 22388936)¹ Bras J....Guerreiro R.J. (2012)
16. Lack of association between three single nucleotide po lymorphisms in the PARK9, PARK15, and BST1 genes and Parkinson's disease in the northern Han Chinese population. (PubMed id 22490479)¹ Zhu L.H....Pang H. (2012)
17. Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism. (PubMed id 22768177)¹ Podhajska A....Moore D.J. (2012)
18. Analysis of ATP13A2 in large neurodegeneration with br ain iron accumulation (NBIA) and dystonia-parkinsonism cohorts. (PubMed id 22743658)¹ Kruer M.C....Houlden H. (2012)
19. Motor pathway excitability in ATP13A2 mutation carrier s: a transcranial magnetic stimulation study. (PubMed id 22104014)¹ Zittel S....Munchau A. (2012)
20. Loss of P-type ATPase ATP13A2/PARK9 function induces g eneral lysosomal deficiency and leads to Parkinson disease neurodegeneration. (PubMed id 22647602)¹ Dehay B....Bezard E. (2012)
21. Identification of novel ATP13A2 interactors and their role in a-synuclein misfolding and toxicity. (PubMed id 22645275)¹ Usenovic M....Krainc D. (2012)
22. Deficiency of ATP13A2 leads to lysosomal dysfunction, a-synuclein accumulation, and neurotoxicity. (PubMed id 22442086)¹ Usenovic M....Krainc D. (2012)
23. Altered apoptosis regulation in Kufor-Rakeb syndrome p atients with mutations in the ATP13A2 gene. (PubMed id 22117566)¹ Radi E....Federico A. (2012)
24. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)
25. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)¹ Vinayagam A....Wanker E.E. (2011)
26. Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death. (PubMed id 21665991)¹ Ugolino J....Monteiro M.J. (2011)
27. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
28. ATP13A2 variability in Taiwanese Parkinson's disease. (PubMed id 21714071)¹ Chen C.M....Wu Y.R. (2011)
29. Regulation of intracellular manganese homeostasis by Kufor-Rakeb syndrome-associated ATP13A2 protein. (PubMed id 21724849)¹ Tan J....Zhang Z. (2011)
30. Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation. (PubMed id 21094623)¹ Crosiers D....Theuns J. (2011)
31. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
32. A truncating mutation in ATP13A2 is responsible for a dult-onset neuronal ceroid lipofuscinosis in Tibetan terriers. (PubMed id 21362476)¹ Farias F.H....Katz M.L. (2011)
33. Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype. (PubMed id 21060012)¹ BrA1ggemann N....Klein C. (2010)
34. Structural imaging in the presymptomatic stage of gen etically determined parkinsonism. (PubMed id 20483373)¹ Reetz K....Binkofski F. (2010)
35. ATP13A2 G2236A variant is rare in patients with early -onset Parkinson's disease and familial Parkinson's disease from Mainland China . (PubMed id 20036179)¹ Mao X.Y....Zhang Z.J. (2010)
36. Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease. (PubMed id 20816920)¹ Dos Santos A.V....Pimentel M.M. (2010)
37. Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations. (PubMed id 20683840)² Behrens M.I.... Ramirez A. (2010)
38. Early-onset L-dopa-responsive parkinsonism with pyram idal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. (PubMed id 20669327)¹ PaisA!n-Ruiz C....Houlden H. (2010)
39. A genome-wide association study in 19 633 Japanese su bjects identified LHX3-QSOX2 and IGF1 as adult height loci. (PubMed id 20189936)¹ Okada Y....Kamatani N. (2010)
40. Rapid screening of ATP13A2 variant with high-resoluti on melting analysis. (PubMed id 20976737)¹ Funayama M....Hattori N. (2010)
41. Lack of association between ATP13A2 Ala746Thr variant and Parkinson's disease in Han population of mainland China. (PubMed id 20227461)¹ Fei Q.Z....Chen S.D. (2010)
42. ATP13A2 mutations (PARK9) cause neurodegeneration wit h brain iron accumulation. (PubMed id 20310007)¹ Schneider S.A....Bhatia K.P. (2010)
43. Eye movement disorders in ATP13A2 mutation carriers ( PARK9). (PubMed id 20842691)¹ Machner B....Helmchen C. (2010)
44. ATP13A2 variants in early-onset Parkinson's disease p atients and controls. (PubMed id 19705361)¹ Djarmati A....Klein C. (2009)
45. Do polymorphisms in the familial Parkinsonism genes contribute to risk for sporadic Parkinson's disease? (PubMed id 19224617)¹ Sutherland G.T....Mellick G.D. (2009)
46. A new variant of the ATP13A2 gene in Chinese patients with early-onset parkinsonism. (PubMed id 20137506)¹ Wang L....Yan X.X. (2009)
47. [Mutation analysis of ATP13A2 gene in Chinese patient s with familial autosomal recessive early-onset parkinsonism] (PubMed id 19806583)¹ He D....Tang B.S. (2009)

External Searches for ATP13A2 gene

Genome Databases showing ATP13A2 gene

Other Databases showing ATP13A2 gene

Specialized Databases showing ATP13A2 gene

Products
for ATP13A2 gene