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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATP13A2 Gene

protein-coding   GIFtS: 57
GCID: GC01M017312

ATPase Type 13A2

(Previous name: Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome))
(Previous symbol: PARK9)
Alzheimer's & Parkinson's Diseases Congress
  11 related diseases
at
MalaCards
 

Aliases
for ATP13A2 gene

(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
KRPPD2 5     EC 3.6.3.-3
Parkinson Disease (Autosomal Recessive) 9 (Kufor-Rakeb Syndrome)1     EC 3.6.38
CLN122     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


Summaries
for ATP13A2 gene

(According to Entrez Gene, 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 parkinson disease type 9, and parkinsonim due to atp13a2 deficiency. GO annotations related to this gene include metal ion binding and ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism. 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


Genomic Views
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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004610.19  NC_018912.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ATP13A2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for ATP13A2 gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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
Subcellular location: Membrane; Multi-pass membrane protein (By similarity). Lysosome
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NQ11

    • 4/10 DME Specific Peptides for ATP13A2 (Q9NQ11) (see all 10)
     TGESIPV  DKTGTLT  VPPALPA  SSLTGES 

    ATP13A2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATP13A2 Protein Expression
    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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    Cloud-Clone Corp. Proteins for ATP13A2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome IDA--
    GO:0005765lysosomal membrane IDA17897319
    GO:0016021integral to membrane IEA--

    ATP13A2 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for ATP13A2 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    		 HGNC Gene Families: 
    PARK: Parkinson disease
    PATP: ATPases / P-type

    5/7 InterPro protein domains (see all 7):
     IPR023299 ATPase_P-typ_cyto_domN
     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

    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


    ATP13A2 for domains           About GeneDecksing


    Function
    for ATP13A2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    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): 5/6 molecular function terms (GO ID links to tree view) (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--
         
    ATP13A2 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Atp13a2):
     behavior/neurological  nervous system  pigmentation 

    ATP13A2 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Atp13a2tm1Pjsch for ATP13A2
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    In Situ Assay
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    Pathways & Interactions
    for ATP13A2 gene

    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ATP13A2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Neuroscience
    		Neuroscience

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for ATP13A2
        Neuroscience



    ATP13A2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP13A2

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/11 Interacting proteins for ATP13A2 (Q9NQ111, 2, 3 ENSP000003272144) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    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): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006812cation transport ----

    ATP13A2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ATP13A2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ATP13A2 (AT132)

    Search CenterWatch for drugs/clinical trials and news about ATP13A2 / AT132

    Transcripts
    for ATP13A2 gene

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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 

    24/154 AceView cDNA sequences (see all 154):

    BU195927 BU848987 BQ639456 CB215966 CD672722 BQ129344 BQ943018 AW503042 
    BQ068194 CK823571 R58916 BQ889151 BQ962923 NM_022089 BF001712 CR613271 
    BC034575 AW503046 CA418950 CF243131 BQ876431 AA326792 AL354615 BF725371 

    GeneLoc Exon Structure

    5/11 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

    Expression
    for ATP13A2 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, 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
    ATP13A2 Expression
    About this image


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

    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
    for ATP13A2 gene

    (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 7/13 species (see all 13)    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
    		 ATPase type 13A2
    		 59(a)
    		 1 ↔ 1
    		 21(4414089-4422658)
    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 57.83(n)
    53.76(a)    		   568666  NM_001080037.1  NP_001073506.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG320006
    		 --
    		 28(a)
    		 1 → many
    		 4(152846-163749)
    worm
    (Caenorhabditis elegans)    		 Secernentea catp-76
    catp-66
    (see all 3)    		 Probable cation-transporting ATPase W08D2.5
    (see all 3)    		 34(a)
    33(a)
    (see all 3)    		 many ↔ many
    many ↔ many
    (see all 3)    		 IV(8585542-8594616)
    IV(9817411-9824632)
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes YPK96
    		 Vacuolar protein with a possible role in sequester...
    		 26(a)
    		 1 → many
    		 XV(861175-865593)


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

    Paralogs
    for ATP13A2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    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

    ATP13A2 for paralogs           About GeneDecksing



    Genomic Variants
    for ATP13A2 gene

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/849 SNPs in ATP13A2 are shown (see all 849)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    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
    VAR_0584564
    		----see VAR_0584562 G R mis40--------
    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
    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for ATP13A2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ATP13A2 for disorders           About GeneDecksing

    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

    11 diseases for ATP13A2:    About MalaCards
    parkinson disease type 9    parkinsonim due to atp13a2 deficiency    lewy body dementia    agnosia
    parkinson's disease    tremor    neuronal ceroid lipofuscinosis    essential tremor
    multiple system atrophy    dementia    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for ATP13A2:
    Parkinson's disease     Hallervorden-Spatz syndrome

    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): ATP13A2
    Human Genome Epidemiology (HuGE) Navigator: ATP13A2 (16 documents)

    Export disorders for ATP13A2 gene to outside databases

    Publications
    for ATP13A2 gene

    (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 9 sources (see all 65):
    (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. (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. (2008)
    3. ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. (PubMed id 17485642)1, 2, 4 Di Fonzo A....Bonifati V. (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. (2006)
    5. 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)
    6. 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)
    7. Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability. (PubMed id 20853184)1, 2 Santoro L....Bonifati V. (2011)
    8. A genome-wide association study in 19 633 Japanese su bjects identified LHX3-QSOX2 and IGF1 as adult height loci. (PubMed id 20189936)1, 4 Okada Y....Kamatani N. (2010)
    9. 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. (2010)
    10. Structural imaging in the presymptomatic stage of gen etically determined parkinsonism. (PubMed id 20483373)1, 4 Reetz K....Binkofski F. (2010)

    External Searches for ATP13A2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
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    Genome Databases showing ATP13A2 gene

    (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

    Other Databases showing ATP13A2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ATP13A2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ATP13A2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATP13A2

    Intellectual Property
    for ATP13A2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ATP13A2 gene:
    Search GeneIP for patents involving ATP13A2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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