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ATP13A2 Gene

protein-coding GIFtS: 58
GCID: GC01M017312

ATPase Type 13A2

(Previous name: Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome))
(Previous symbol: PARK9)

See ATP13A2-related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
ATPase Type 13A2¹ ²		Probable Cation-Transporting ATPase 13A2²
PARK9¹ ² ³ ⁵		Putative ATPase²
CLN12² ⁵		EC 3.6.3.-³
KRPPD² ⁵		EC 3.6.3⁸
Parkinson Disease (Autosomal Recessive) 9 (Kufor-Rakeb Syndrome)¹		EC 3.6.3.5⁸
HSA9947²		EC 3.6.3.8⁸

External Ids:	HGNC: 30213¹	Entrez Gene: 23400²	Ensembl: ENSG00000159363⁷	OMIM: 610513⁵	UniProtKB: Q9NQ11³

Export aliases for ATP13A2 gene to outside databases

Previous GC identifers: GC01M017058 GC01M017185 GC01M015556

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ATP13A2 Gene:

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)

GeneCards Summary for ATP13A2 Gene:

ATP13A2 (ATPase type 13A2) is a protein-coding gene. Diseases associated with ATP13A2 include ceroid lipofuscinosis, neuronal, 12, and parkinson disease type 9. GO annotations related to this gene include cation-transporting ATPase activity. An important paralog of this gene is ATP13A5.

UniProtKB/Swiss-Prot: AT132_HUMAN, Q9NQ11

Function: May play a role in intracellular cation homeostasis and the maintenance of neuronal integrity

Gene Wiki entry for ATP13A2 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NC_000001.10 NT_032977.10 NC_018912.2

Regulatory elements:

Regulatory transcription factor binding sites in the ATP13A2 gene promoter:
p53 AML1a Pax-5 LUN-1 GATA-1 Max Pax-3 Ik-2 c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ATP13A2 promoter sequence

Search Chromatin IP Primers for ATP13A2

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP13A2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36 Ensembl cytogenetic band: 1p36.13 HGNC cytogenetic band: 1p36

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

GeneLoc information about chromosome 1 GeneLoc Exon Structure

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

Start:	17,312,453 bp from pter	End:	17,338,423 bp from pter
Size:	25,971 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

UniProtKB/Swiss-Prot: AT132_HUMAN, Q9NQ11 (See protein sequence)

Recommended Name: Probable cation-transporting ATPase 13A2

Size: 1180 amino acids; 128794 Da

Sequence caution: Sequence=CAA08912.1; Type=Frameshift; Positions=1054;

Secondary accessions: O75700 Q5JXY1 Q5JXY2 Q6S9Z9

Alternative splicing: 3 isoforms: Q9NQ11-1 Q9NQ11-2 Q9NQ11-3

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

Explore proteomics data for ATP13A2 at MOPED

Post-translational modifications:

Ubiquitination² at Lys68, Lys143, Lys693, Lys835, Lys843, Lys859

Modification sites at PhosphoSitePlus

Selected DME Specific Peptides for ATP13A2 (Q9NQ11) (see all 10)

TGESIPV

DKTGTLT

VPPALPA

SSLTGES

See ATP13A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (3 alternative transcripts):

NP_001135445.1 NP_001135446.1 NP_071372.1

ENSEMBL proteins:

ENSP00000327214 ENSP00000341115 ENSP00000413307 ENSP00000423065 ENSP00000421126

ENSP00000424393 ENSP00000424313 ENSP00000427241 ENSP00000422227 ENSP00000422668

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
About This Section

HGNC Gene Families:

PARK: Parkinson disease

PATP: ATPases / P-type

Selected InterPro protein domains (see all 7):

IPR008250 ATPase_P-typ_transduc_dom_A

IPR023214 HAD-like_dom

IPR004014 ATPase_P-typ_cation-transptr_N

IPR006544 ATPase_P-typ_Cation_typ_V

IPR001757 Cation_transp_P_typ_ATPase

Graphical View of Domain Structure for InterPro Entry Q9NQ11

ProtoNet protein and cluster: Q9NQ11

2 Blocks protein domains:

IPB001757 ATPase

IPB008250 E1-E2 ATPase-associated region

UniProtKB/Swiss-Prot: AT132_HUMAN, Q9NQ11

Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily

Find genes that share domains with ATP13A2 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: AT132_HUMAN, Q9NQ11

Function: May play a role in intracellular cation homeostasis and the maintenance of neuronal integrity

Catalytic activity: ATP + H(2)O = ADP + phosphate

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): Selected molecular function terms (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	--	--
GO:0005515	protein binding	IPI	--
GO:0005524	ATP binding	IEA	--
GO:0016887	ATPase activity	--	--
GO:0019829	cation-transporting ATPase activity	IEA	--

Find genes that share ontologies with ATP13A2 About GenesLikeMe

Phenotypes:
3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Atp13a2):

behavior/neurological

nervous system

pigmentation

Find genes that share phenotypes with ATP13A2 About GenesLikeMe

Animal Models:
MGI mouse knock-out Atp13a2^tm1Pjsch for ATP13A2

genOway: Develop your customized and physiologically relevant rodent model for ATP13A2

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In Situ Assay
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Subcellular locations from UniProtKB/Swiss-Prot

AT132_HUMAN, Q9NQ11: Membrane; Multi-pass membrane protein (By similarity). Lysosome

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
lysosome	5
vacuole	5
plasma membrane	3
endoplasmic reticulum	1
endosome	1
mitochondrion	1

About this image

Gene Ontology (GO): 3 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005764	lysosome	IDA	--
GO:0005765	lysosomal membrane	IDA	17897319
GO:0016021	integral component of membrane	IEA	--

Find genes that share ontologies with ATP13A2 About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

SuperPaths for ATP13A2 About

See pathways by source

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SuperPath

Contained pathways About

Neuroscience

Neuroscience

Find genes that share SuperPaths with ATP13A2 About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

1 Cell Signaling Technology (CST) Pathway for ATP13A2

Neuroscience

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for ATP13A2
Interactions:

Search GeneGlobe Interaction Network for ATP13A2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for ATP13A2 (Q9NQ11^{1, 2, 3} ENSP00000327214⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 53)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CMTM6	Q9NX76²^,³, ENSP00000205636⁴	MINT-8252538 I2D: score=2 STRING: ENSP00000205636
PRKCQ	Q04759³	I2D: score=2
AAK1	Q2M2I8¹	EBI-6308763,EBI-1383433
BNIP3L	O60238¹	EBI-6308763,EBI-849893
GAK	O14976¹	EBI-6308763,EBI-714707

About this table

Gene Ontology (GO): 2 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006812	cation transport	--	--
GO:0008219	cell death	IEA	--

Find genes that share ontologies with ATP13A2 About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for ATP13A2 (AT132)

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

REFSEQ mRNAs for ATP13A2 gene (11 alternative transcripts):

NM_001141973.1 NM_001141974.1 NM_022089.2 XM_005245809.1 XM_005245810.1 XM_005245811.1 XM_005245812.1 XM_005245813.1

XM_005245815.1 XM_006710512.1 XM_006710513.1

Unigene Cluster for ATP13A2:

ATPase type 13A2

Hs.128866 [show with all ESTs]

Unigene Representative Sequence: NM_022089

14 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000326735 ENST00000341676 ENST00000452699(uc001baa.2 uc001bab.2 uc001bac.2)

ENST00000466561 ENST00000502418 ENST00000503552 ENST00000463860(uc009vpa.1 uc001bad.1)

ENST00000502860 ENST00000509392 ENST00000506174 ENST00000510069 ENST00000511957

ENST00000508222 ENST00000509619

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Additional mRNA sequence:

AJ009947.1 AK025928.1 AK075310.1 AK290210.1 AL354615.1 AL833966.1 AY461712.1 AY987009.1

BC030267.1 BC034575.1

11 DOTS entries:

DT.444266 DT.100039673 DT.100781975 DT.100781974 DT.100039674 DT.95283330 DT.95360628 DT.100039660

DT.95146554 DT.91712667 DT.95296187

Selected AceView cDNA sequences (see all 154):

NM_022089 BQ068680 BF725371 R58916 AW503042 BU195927 BQ129322 CF243131

BQ876431 BQ129344 BC034575 BQ889151 CB215966 CA418950 BU848987 AW503046

BQ962923 AA326792 CR613271 BF001712 BQ943018 BQ639456 BQ068194 AL354615

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for ATP13A2 (see all 11) About this scheme

ExUns:	1a	·	1b	·	1c	^	2a	·	2b	^	3	^	4	^	5a	·	5b	^	6	^	7	^	8a	·	8b	^	9a	·	9b	^	10a	·	10b	^	11	^	12	^	13a	·	13b	^	14	^	15a	·	15b	·	15c	·	15d	·
SP1:																	-										-												-												-
SP2:																											-												-												-
SP3:																	-										-												-												-
SP4:																																							-
SP5:

ExUns:	15e	^	16	^	17	^	18a	·	18b	·	18c	^	19	^	20	^	21	^	22	^	23	^	24	^	25	^	26a	·	26b	^	27a	·	27b	^	28	^	29a	·	29b
SP1:	-																																-
SP2:	-																																-
SP3:	-																		-														-		-
SP4:
SP5:																																	-		-

ECgene alternative splicing isoforms for ATP13A2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ATP13A2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: ATATTTTCCT

About this image

ATP13A2 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

ATP13A2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.128866

UniProtKB/Swiss-Prot: AT132_HUMAN, Q9NQ11

Tissue specificity: Expressed in brain; protein levels are markedly increased in brain from subjects with

Parkinson disease and subjects with dementia with Lewy bodies. Detected in pyramidal neurons located throughout

the cingulate cortex (at protein level). In the substantia nigra, it is found in neuromelanin-positive

dopaminergic neurons (at protein level)

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATP13A2 gene from Selected species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Atp13a2^{1 , 5}	ATPase type 13A2^{1, 5}	85.14(n)¹ 86.23(a)¹		4 (73.29 cM)⁵ 74772¹ NM_029097.2¹ NP_083373.2¹ 140986873⁵
chicken (Gallus gallus)	Aves	ATP13A2⁶	Gallus gallus ATPase type 13A2 (ATP13A2), mRNA.	59(a)	1 ↔ 1	21(4414089-4422658)
lizard (Anolis carolinensis)	Reptilia	--	--	36(a)	many ↔ many	GL343829.1(110324-160661)
African clawed frog (Xenopus laevis)	Amphibia	Xl.2717²	Xenopus laevis transcribed sequence with weak similarity more	76.58(n)		BJ060206.1
zebrafish (Danio rerio)	Actinopterygii	atp13a2¹	ATPase type 13A2	58.24(n) 54.17(a)		568666 NM_001080037.1 NP_001073506.1
fruit fly (Drosophila melanogaster)	Insecta	CG32000⁶	--	29(a)	1 → many	4(152846-163749)
worm (Caenorhabditis elegans)	Secernentea	catp-7⁶ catp-6⁶ (see all 3)	Protein CATP-6, isoform c (see all 3)	35(a) 34(a) (see all 3)	many ↔ many many ↔ many (see all 3)	IV(8585542-8594616) WBGene00022010 IV(9817411-9824632) WBGene00012341
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	YPK9⁶	Vacuolar protein with a possible role in sequester...	27(a)	1 → many	XV(861175-865593) YOR291W

ENSEMBL Gene Tree for ATP13A2 (if available)
TreeFam Gene Tree for ATP13A2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
About This Section

Paralogs for ATP13A2 gene

ATP13A5² ATP13A3² ATP13A4²

3 SIMAP similar genes for ATP13A2 using alignment to 9 protein entries: AT132_HUMAN (see all proteins):

ATP13A4 ATP13A3 ATP13A5

Find genes that share paralogs with ATP13A2 About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_070194⁴		Ceroid lipofuscinosis, neuronal, 12 (CLN12)⁴	--	see VAR_070194	2	M R	mis⁴		0	--	--	--	--
VAR_066020⁴		Kufor-Rakeb syndrome (KRS)⁴	--	see VAR_066020	2	G R	mis⁴		0	--	--	--	--
VAR_066019⁴		Kufor-Rakeb syndrome (KRS)⁴	--	see VAR_066019	2	F L	mis⁴		0	--	--	--	--
VAR_066021⁴		Kufor-Rakeb syndrome (KRS)⁴	--	see VAR_066021	2	L R	mis⁴		0	--	--	--	--
rs142616130^1,2	C,F	untested¹	17529672(+)	`CCGCCG/AGTGTG`	6	/R /W	mis¹		1		NA	4546
rs56300634^1,2	C	--	15570769(-)	`GGGGGG/AGCATG`	3	--	int¹		1		WA	2
rs146931565^1,2	C	--	15574247(+)	`TTTTC-/TTTTTTT`	3	--	int¹		0	--	--	--	--
rs71006407^1,2	C	--	17330162(+)	`TTTTC-/T/TT TTTTT`	3	--	int¹		2		NA	4
rs57121858^1,2	C	--	17332749(+)	`TTTTT-/TGAGAC`	3	--	int¹		0	--	--	--	--
rs67484789^1,2	C	--	17334046(+)	`TTTTT-/TGAGAG`	3	--	int¹		1		NA	2

HapMap Linkage Disequilibrium report for ATP13A2 (17312453 - 17338423 bp)

Structural Variations
Database of Genomic Variants (DGV) 9 variations for ATP13A2: About this table

Variant ID	Type	Subtype	PubMed ID
nsv508947	CNV	Insertion	20534489
dgv185n71	CNV	Loss	21882294
nsv834269	CNV	Loss	17160897
dgv184n71	CNV	Loss	21882294
nsv834280	CNV	Loss	17160897
nsv428421	CNV	Gain+Loss	18775914
dgv30e1	CNV	Complex	17122850
dgv40e1	CNV	Complex	17122850
dgv29e1	CNV	Complex	17122850

Human Gene Mutation Database (HGMD): ATP13A2

Site Specific Mutation Identification with PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
About This Section

OMIM gene information: 610513
OMIM disorders: 606693
UniProtKB/Swiss-Prot: AT132_HUMAN, Q9NQ11

Kufor-Rakeb syndrome (KRS) [MIM:606693]: A rare form of autosomal recessive juvenile or early-onset,

levodopa-responsive parkinsonism. In addition to typical parkinsonian signs, clinical manifestations of

Kufor-Rakeb syndrome include behavioral problems, facial tremor, pyramidal tract dysfunction, supranuclear gaze

palsy, and dementia. Note=The disease is caused by mutations affecting the gene represented in this entry

Ceroid lipofuscinosis, neuronal, 12 (CLN12) [MIM:606693]: A form of neuronal ceroid lipofuscinosis

characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and

cerebellar atrophy. Cognitive decline may also occur. Neuronal ceroid lipofuscinoses are progressive

neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent

liposomal material. Note=The disease is caused by mutations affecting the gene represented in this entry

4 diseases for ATP13A2:
About MalaCards

ceroid lipofuscinosis, neuronal, 12 parkinson disease type 9 parkinson's disease neuronal ceroid-lipofuscinoses

2 inferred disease relationships from the University of Copenhagen DISEASES database for ATP13A2:

Parkinson's disease Hallervorden-Spatz syndrome

Find genes that share disorders with ATP13A2 About GenesLikeMe

Genetic Association Database (GAD): ATP13A2
Human Genome Epidemiology (HuGE) Navigator: ATP13A2 (16 documents)

Export disorders for ATP13A2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ATP13A2 gene, integrated from 10 sources (see all 67):
(articles sorted by number of sources associating them with ATP13A2)

ATP13A2 variability in Parkinson disease. (PubMed id 19085912)^{1, 2, 4} Vilarino-Guell C....Farrer M.J. (Hum. Mutat. 2009)
Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore. (PubMed id 19015489)^{1, 2, 4} Lin C.H.... Wu R.M. (Neurology 2008)
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. (PubMed id 17485642)^{1, 2, 4} Di Fonzo A.... Bonifati V. (Neurology 2007)
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. (Nat. Genet. 2006)
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. (PubMed id 22388936)^{1, 2} Bras J....Guerreiro R.J. (Hum. Mol. Genet. 2012)
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. (Hum. Mol. Genet. 2012)
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. (Hum. Mutat. 2011)
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability. (PubMed id 20853184)^{1, 2} Santoro L.... Bonifati V. (Neurogenetics 2011)
A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. (PubMed id 20189936)^{1, 4} Okada Y....Kamatani N. (Hum. Mol. Genet. 2010)
Lack of association between ATP13A2 Ala746Thr variant and Parkinson's disease in Han population of mainland China. (PubMed id 20227461)^{1, 4} Fei Q.Z....Chen S.D. (Neurosci. Lett. 2010)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 23400	HGNC: 30213	AceView: HSA9947	Ensembl:ENSG00000159363	euGenes: HUgn23400
ECgene: ATP13A2	H-InvDB: ATP13A2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ATP13A2	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ATP13A2[genesymbol]

Intellectual Property for ATP13A2 gene
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Patent Information for ATP13A2 gene:
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GeneCards and IP:
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