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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  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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)
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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)
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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 plasmidATP13A2 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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 GeneDecks)
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    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, inGenious Targeting Laboratory, 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.)
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    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 IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
    GO:0016887ATPase activity ----
    GO:0019829cation-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 Atp13a2tm1Pjsch for ATP13A2

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AT132_HUMAN, Q9NQ11: Membrane; Multi-pass membrane protein (By similarity). Lysosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    plasma membrane3
    endoplasmic reticulum1
    endosome1
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome IDA--
    GO:0005765lysosomal membrane IDA17897319
    GO:0016021integral 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 GeneDecks, 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).
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    SuperPaths for ATP13A2 About    
    See pathways by source

    SuperPathContained pathways About
    1Neuroscience
    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 (Q9NQ111, 2, 3 ENSP000003272144) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CMTM6Q9NX762, 3, ENSP000002056364MINT-8252538 I2D: score=2 STRING: ENSP00000205636
    PRKCQQ047593I2D: score=2 
    AAK1Q2M2I81EBI-6308763,EBI-1383433
    BNIP3LO602381EBI-6308763,EBI-849893
    GAKO149761EBI-6308763,EBI-714707
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006812cation transport ----
    GO:0008219cell 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)
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    Browse Small Molecules at EMD Millipore
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    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 )
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    REFSEQ mRNAs for ATP13A2 gene (3 alternative transcripts): 
    NM_001141973.1  NM_001141974.1  NM_022089.2  

    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 GeneDecks, 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)
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    ATP13A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATATTTTCCT
    ATP13A2 Expression
    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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    (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)
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    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 Atp13a21 , 5 ATPase type 13A21, 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)
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    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)
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    Selected SNPs for ATP13A2 (see all 850)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0701944
    Ceroid lipofuscinosis, neuronal, 12 (CLN12)4--see VAR_0701942 M R mis40--------
    VAR_0660204
    Kufor-Rakeb syndrome (KRS)4--see VAR_0660202 G R mis40--------
    VAR_0660194
    Kufor-Rakeb syndrome (KRS)4--see VAR_0660192 F L mis40--------
    VAR_0660214
    Kufor-Rakeb syndrome (KRS)4--see VAR_0660212 L R mis40--------
    rs1426161301,2
    C,Funtested117529672(+) CCGCCG/AGTGTG 6 /R /W mis11Minor allele frequency- A:0.00NA 4546
    rs563006341,2
    C--15570769(-) GGGGGG/AGCATG 3 -- int11Minor allele frequency- A:0.50WA 2
    rs1469315651,2
    C--15574247(+) TTTTC-/TTTTTTT 3 -- int10--------
    rs710064071,2
    C--17330162(+) TTTTC-/T/TT  
            
    TTTTT
    3 -- int12NA 4
    rs571218581,2
    C--17332749(+) TTTTT-/TGAGAC 3 -- int10--------
    rs674847891,2
    C--17334046(+) TTTTT-/TGAGAG 3 -- int11Minor allele frequency- T:0.00NA 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 IDTypeSubtypePubMed ID
    nsv508947CNV Insertion20534489
    dgv185n71CNV Loss21882294
    nsv834269CNV Loss17160897
    dgv184n71CNV Loss21882294
    nsv834280CNV Loss17160897
    nsv428421CNV Gain+Loss18775914
    dgv30e1CNV Complex17122850
    dgv40e1CNV Complex17122850
    dgv29e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): ATP13A2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP13A2
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP13A2

    (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.)
    About This Section

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    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 diseases 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)
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    PubMed articles for ATP13A2 gene, integrated from 10 sources (see all 67) (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. ATP13A2 variability in Parkinson disease. (PubMed id 19085912)1, 2, 4 Vilarino-Guell C....Farrer M.J. (Hum. Mutat. 2009)
    2. 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)
    3. ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. (PubMed id 17485642)1, 2, 4 Di Fonzo A.... Bonifati V. (Neurology 2007)
    4. 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)
    5. Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. (PubMed id 22388936)1, 2 Bras J....Guerreiro R.J. (Hum. Mol. Genet. 2012)
    6. 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)
    7. 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)
    8. Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability. (PubMed id 20853184)1, 2 Santoro L.... Bonifati V. (Neurogenetics 2011)
    9. 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)
    10. 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)
    11. Structural imaging in the presymptomatic stage of genetically determined parkinsonism. (PubMed id 20483373)1, 4 Reetz K....Binkofski F. (Neurobiol. Dis. 2010)
    12. 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, 4 Mao X.Y....Zhang Z.J. (amp 2010)
    13. Rapid screening of ATP13A2 variant with high-resolution melting analysis. (PubMed id 20976737)1, 4 Funayama M....Hattori N. (Mov. Disord. 2010)
    14. ATP13A2 variants in early-onset Parkinson's disease patients and controls. (PubMed id 19705361)1, 4 Djarmati A....Klein C. (Mov. Disord. 2009)
    15. A new variant of the ATP13A2 gene in Chinese patients with early-onset parkinsonism. (PubMed id 20137506)1, 4 Wang L....Yan X.X. (Chin. Med. J. 2009)
    16. [Mutation analysis of ATP13A2 gene in Chinese patients with familial autosomal recessive early-onset parkinsonism]. (PubMed id 19806583)1, 4 He D....Tang B.S. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2009)
    17. Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease. (PubMed id 19097176)1, 4 Rakovic A....Ramirez A. (Mov. Disord. 2009)
    18. Do polymorphisms in the familial Parkinsonism genes contribute to risk for sporadic Parkinson's disease? (PubMed id 19224617)1, 4 Sutherland G.T....Mellick G.D. (Mov. Disord. 2009)
    19. PARK9-linked parkinsonism in eastern Asia: mutation detection in ATP13A2 and clinical phenotype. (PubMed id 18413573)1, 2 Ning Y.P....Hattori N. (Neurology 2008)
    20. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    21. Characterization of the P5 subfamily of P-type transport ATPases in mice. (PubMed id 15381061)1, 3 Schultheis P.J....Shull G.E. (Biochem. Biophys. Res. Commun. 2004)
    22. 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. (Genome Res. 2004)
    23. ATP13A2 deficiency induces a decrease in cathepsin D activity, fingerprint-like inclusion body formation, and selective degeneration of dopaminergic neurons. (PubMed id 23499937)1 Matsui H....Takahashi R. (FEBS Lett. 2013)
    24. The role of the Ala746Thr variant in the ATP13A2 gene among Chinese patients with Parkinson's disease. (PubMed id 23522931)1 Chan A.Y....Kuo S.H. (J Clin Neurosci 2013)
    25. Parkinson's disease-associated human P5B-ATPase ATP13A2 increases spermidine uptake. (PubMed id 23205587)1 De La Hera D.P....De Tezanos Pinto F. (Biochem. J. 2013)
    26. ATP13A2 (PARK9) polymorphisms influence the neurotoxic effects of manganese. (PubMed id 22285144)1 Rentschler G....Broberg K. (Neurotoxicology 2012)
    27. ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome. (PubMed id 22296644)1 GrA1newald A....Klein C. (Neurobiol. Aging 2012)
    28. The role of the Parkinson's disease gene PARK9 in essential cellular pathways and the manganese homeostasis network in yeast. (PubMed id 22457822)1 Chesi A....Gitler A.D. (PLoS ONE 2012)
    29. Early-onset autosomal-recessive parkinsonian-pyramidal syndrome. (PubMed id 23196729)1 Lai H.J....Wu R.M. (Acta Neurol Taiwan 2012)
    30. Characterization of cellular protective effects of ATP13A2/PARK9 expression and alterations resulting from pathogenic mutants. (PubMed id 22847264)1 Covy J.P....Giasson B.I. (J. Neurosci. Res. 2012)
    31. Hypoxia regulation of ATP13A2 (PARK9) gene transcription. (PubMed id 22288903)1 Xu Q....Song W. (J. Neurochem. 2012)
    32. Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration. (PubMed id 22647602)1 Dehay B....Bezard E. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    33. Identification of novel ATP13A2 interactors and their role in I+-synuclein misfolding and toxicity. (PubMed id 22645275)1 Usenovic M....Krainc D. (Hum. Mol. Genet. 2012)
    34. ATP13A2 knockout does not affect the infarct size in mice with acute ischemic stroke. (PubMed id 23121889)1 Yu J.G....Cai G.J. (amp 2012)
    35. Lack of association between three single nucleotide polymorphisms 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. (Chin. Med. J. 2012)
    36. Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9). (PubMed id 21696388)1 Eiberg H....Nielsen J.E. (Clin. Genet. 2012)
    37. 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. (PLoS ONE 2012)
    38. Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts. (PubMed id 22743658)1 Kruer M.C....Houlden H. (Neurosci. Lett. 2012)
    39. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    40. Brain transcriptome-wide screen for HIV-1 Nef protein interaction partners reveals various membrane-associated proteins. (PubMed id 23284715)1 Kammula E.C....Willbold D. (PLoS ONE 2012)
    41. Motor pathway excitability in ATP13A2 mutation carriers: a transcranial magnetic stimulation study. (PubMed id 22104014)1 Zittel S....MA1nchau A. (amp 2012)
    42. Deficiency of ATP13A2 leads to lysosomal dysfunction, I+-synuclein accumulation, and neurotoxicity. (PubMed id 22442086)1 Usenovic M....Krainc D. (J. Neurosci. 2012)
    43. Altered apoptosis regulation in Kufor-Rakeb syndrome patients with mutations in the ATP13A2 gene. (PubMed id 22117566)1 Radi E....Federico A. (J. Cell. Mol. Med. 2012)
    44. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    45. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)
    46. 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. (Hum. Mol. Genet. 2011)
    47. ATP13A2 variability in Taiwanese Parkinson's disease. (PubMed id 21714071)1 Chen C.M....Wu Y.R. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
    Free Text  

      Query String
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    OMIM
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      (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)
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    Entrez Gene: 23400 HGNC: 30213 AceView: HSA9947 Ensembl:ENSG00000159363 euGenes: HUgn23400
    ECgene: ATP13A2 H-InvDB: ATP13A2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ATP13A2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ATP13A2[genesymbol]

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    Patent Information for ATP13A2 gene:
    Search GeneIP for patents involving ATP13A2

    GeneCards and IP:
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