Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ATP13A2 (ATPase 13A2)

Identity

Alias_namesPARK9
Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)
ATPase type 13A2
Alias_symbol (synonym)HSA9947
CLN12
Other aliasKRPPD
SPG78
HGNC (Hugo) ATP13A2
LocusID (NCBI) 23400
Atlas_Id 54139
Location 1p36.13  [Link to chromosome band 1p36]
Location_base_pair Starts at 16985958 and ends at 17011972 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)		ATP13A2 (1p36.13) / ATP13A2 (1p36.13)ATP13A2 (1p36.13) / CLDND1 (3q11.2)FDPS (1q22) / ATP13A2 (1p36.13)
UBR4 (1p36.13) / ATP13A2 (1p36.13)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Adenocarcinoma

External links

Nomenclature
HGNC (Hugo)ATP13A2   30213
LRG (Locus Reference Genomic)LRG_834
Cards
Entrez_Gene (NCBI)ATP13A2  23400  ATPase 13A2
AliasesCLN12; HSA9947; KRPPD; PARK9; 
SPG78
GeneCards (Weizmann)ATP13A2
Ensembl hg19 (Hinxton)ENSG00000159363 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000159363 [Gene_View]  chr1:16985958-17011972 [Contig_View]  ATP13A2 [Vega]
ICGC DataPortalENSG00000159363
TCGA cBioPortalATP13A2
AceView (NCBI)ATP13A2
Genatlas (Paris)ATP13A2
WikiGenes23400
SOURCE (Princeton)ATP13A2
Genetics Home Reference (NIH)ATP13A2
Genomic and cartography
GoldenPath hg38 (UCSC)ATP13A2  -     chr1:16985958-17011972 -  1p36.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP13A2  -     1p36.13   [Description]    (hg19-Feb_2009)
EnsemblATP13A2 - 1p36.13 [CytoView hg19]  ATP13A2 - 1p36.13 [CytoView hg38]
Mapping of homologs : NCBIATP13A2 [Mapview hg19]  ATP13A2 [Mapview hg38]
OMIM606693   610513   617225   
Gene and transcription
Genbank (Entrez)AJ009947 AK025928 AK075310 AK290210 AL354615
RefSeq transcript (Entrez)NM_001141973 NM_001141974 NM_022089
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATP13A2
Cluster EST : UnigeneHs.128866 [ NCBI ]
CGAP (NCI)Hs.128866
Alternative Splicing GalleryENSG00000159363
Gene ExpressionATP13A2 [ NCBI-GEO ]   ATP13A2 [ EBI - ARRAY_EXPRESS ]   ATP13A2 [ SEEK ]   ATP13A2 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP13A2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23400
GTEX Portal (Tissue expression)ATP13A2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NQ11   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NQ11  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NQ11
Splice isoforms : SwissVarQ9NQ11
PhosPhoSitePlusQ9NQ11
Domaine pattern : Prosite (Expaxy)ATPASE_E1_E2 (PS00154)   
Domains : Interpro (EBI)ATPase_P-typ_cyto_domN    ATPase_P-typ_P_site    ATPase_P-typ_transduc_dom_A    HAD-like_dom    P-type_TPase_V    P_typ_ATPase   
Domain families : Pfam (Sanger)E1-E2_ATPase (PF00122)    P5-ATPase (PF12409)   
Domain families : Pfam (NCBI)pfam00122    pfam12409   
Conserved Domain (NCBI)ATP13A2
DMDM Disease mutations23400
Blocks (Seattle)ATP13A2
SuperfamilyQ9NQ11
Human Protein AtlasENSG00000159363
Peptide AtlasQ9NQ11
HPRD13677
IPIIPI00015154   IPI00604403   IPI00177535   IPI00915298   IPI00963843   IPI00968043   IPI00967403   IPI00964114   IPI00967996   IPI00967135   IPI00968292   
Protein Interaction databases
DIP (DOE-UCLA)Q9NQ11
IntAct (EBI)Q9NQ11
FunCoupENSG00000159363
BioGRIDATP13A2
STRING (EMBL)ATP13A2
ZODIACATP13A2
Ontologies - Pathways
QuickGOQ9NQ11
Ontology : AmiGOcalcium-transporting ATPase activity  protein binding  ATP binding  lysosome  lysosomal membrane  lysosomal membrane  late endosome  multivesicular body  multivesicular body  autophagosome  integral component of plasma membrane  cellular calcium ion homeostasis  cellular iron ion homeostasis  cellular zinc ion homeostasis  zinc ion binding  regulation of mitochondrion organization  regulation of mitochondrion organization  vesicle membrane  integral component of membrane  regulation of macroautophagy  regulation of macroautophagy  regulation of autophagosome size  ATPase activity  cation-transporting ATPase activity  cellular cation homeostasis  transport vesicle  manganese ion binding  vesicle  multivesicular body membrane  regulation of intracellular protein transport  ion transmembrane transport  cellular response to oxidative stress  cellular response to oxidative stress  neuron projection  neuronal cell body  lysosomal lumen  protein autophosphorylation  positive regulation of protein secretion  regulation of endopeptidase activity  zinc ion homeostasis  phosphatidic acid binding  calcium ion transmembrane transport  cellular response to manganese ion  cellular response to manganese ion  cellular response to zinc ion  phosphatidylinositol-3,5-bisphosphate binding  ATP hydrolysis coupled cation transmembrane transport  negative regulation of neuron death  negative regulation of neuron death  cupric ion binding  regulation of mitophagy  positive regulation of exosomal secretion  positive regulation of exosomal secretion  regulation of chaperone-mediated autophagy  autophagosome organization  integral component of lysosomal membrane  polyamine import  regulation of glucosylceramidase activity  regulation of lysosomal protein catabolic process  regulation of lysosomal protein catabolic process  negative regulation of lysosomal protein catabolic process  peptidyl-aspartic acid autophosphorylation  
Ontology : EGO-EBIcalcium-transporting ATPase activity  protein binding  ATP binding  lysosome  lysosomal membrane  lysosomal membrane  late endosome  multivesicular body  multivesicular body  autophagosome  integral component of plasma membrane  cellular calcium ion homeostasis  cellular iron ion homeostasis  cellular zinc ion homeostasis  zinc ion binding  regulation of mitochondrion organization  regulation of mitochondrion organization  vesicle membrane  integral component of membrane  regulation of macroautophagy  regulation of macroautophagy  regulation of autophagosome size  ATPase activity  cation-transporting ATPase activity  cellular cation homeostasis  transport vesicle  manganese ion binding  vesicle  multivesicular body membrane  regulation of intracellular protein transport  ion transmembrane transport  cellular response to oxidative stress  cellular response to oxidative stress  neuron projection  neuronal cell body  lysosomal lumen  protein autophosphorylation  positive regulation of protein secretion  regulation of endopeptidase activity  zinc ion homeostasis  phosphatidic acid binding  calcium ion transmembrane transport  cellular response to manganese ion  cellular response to manganese ion  cellular response to zinc ion  phosphatidylinositol-3,5-bisphosphate binding  ATP hydrolysis coupled cation transmembrane transport  negative regulation of neuron death  negative regulation of neuron death  cupric ion binding  regulation of mitophagy  positive regulation of exosomal secretion  positive regulation of exosomal secretion  regulation of chaperone-mediated autophagy  autophagosome organization  integral component of lysosomal membrane  polyamine import  regulation of glucosylceramidase activity  regulation of lysosomal protein catabolic process  regulation of lysosomal protein catabolic process  negative regulation of lysosomal protein catabolic process  peptidyl-aspartic acid autophosphorylation  
NDEx NetworkATP13A2
Atlas of Cancer Signalling NetworkATP13A2
Wikipedia pathwaysATP13A2
Orthology - Evolution
OrthoDB23400
GeneTree (enSembl)ENSG00000159363
Phylogenetic Trees/Animal Genes : TreeFamATP13A2
HOVERGENQ9NQ11
HOGENOMQ9NQ11
Homologs : HomoloGeneATP13A2
Homology/Alignments : Family Browser (UCSC)ATP13A2
Gene fusions - Rearrangements
Fusion : MitelmanUBR4/ATP13A2 [1p36.13/1p36.13]  [t(1;1)(p36;p36)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP13A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP13A2
dbVarATP13A2
ClinVarATP13A2
1000_GenomesATP13A2 
Exome Variant ServerATP13A2
ExAC (Exome Aggregation Consortium)ATP13A2 (select the gene name)
Genetic variants : HAPMAP23400
Genomic Variants (DGV)ATP13A2 [DGVbeta]
DECIPHERATP13A2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP13A2 
Mutations
ICGC Data PortalATP13A2 
TCGA Data PortalATP13A2 
Broad Tumor PortalATP13A2
OASIS PortalATP13A2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP13A2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP13A2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch ATP13A2
DgiDB (Drug Gene Interaction Database)ATP13A2
DoCM (Curated mutations)ATP13A2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP13A2 (select a term)
intoGenATP13A2
Cancer3DATP13A2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606693    610513    617225   
Orphanet21506    21249   
MedgenATP13A2
Genetic Testing Registry ATP13A2
NextProtQ9NQ11 [Medical]
TSGene23400
GENETestsATP13A2
Target ValidationATP13A2
Huge Navigator ATP13A2 [HugePedia]
snp3D : Map Gene to Disease23400
BioCentury BCIQATP13A2
ClinGenATP13A2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23400
Chemical/Pharm GKB GenePA134897221
Clinical trialATP13A2
Miscellaneous
canSAR (ICR)ATP13A2 (select the gene name)
Probes
Litterature
PubMed86 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP13A2
EVEXATP13A2
GoPubMedATP13A2
iHOPATP13A2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:24:50 CEST 2017
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