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ATP13A2 (ATPase cation transporting 13A2)

Identity

Alias (NCBI)CLN12
HSA9947
KRPPD
PARK9
SPG78
HGNC (Hugo) ATP13A2
HGNC Alias symbHSA9947
CLN12
HGNC Previous namePARK9
HGNC Previous nameParkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)
 ATPase type 13A2
 ATPase 13A2
LocusID (NCBI) 23400
Atlas_Id 54139
Location 1p36.13  [Link to chromosome band 1p36]
Location_base_pair Starts at 16985958 and ends at 17011928 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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

 



External links

 

Nomenclature
HGNC (Hugo)ATP13A2   30213
LRG (Locus Reference Genomic)LRG_834
Cards
Entrez_Gene (NCBI)ATP13A2    ATPase cation transporting 13A2
AliasesCLN12; HSA9947; KRPPD; PARK9; 
SPG78
GeneCards (Weizmann)ATP13A2
Ensembl hg19 (Hinxton)ENSG00000159363 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000159363 [Gene_View]  ENSG00000159363 [Sequence]  chr1:16985958-17011928 [Contig_View]  ATP13A2 [Vega]
ICGC DataPortalENSG00000159363
TCGA cBioPortalATP13A2
AceView (NCBI)ATP13A2
Genatlas (Paris)ATP13A2
SOURCE (Princeton)ATP13A2
Genetics Home Reference (NIH)ATP13A2
Genomic and cartography
GoldenPath hg38 (UCSC)ATP13A2  -     chr1:16985958-17011928 -  1p36.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP13A2  -     1p36.13   [Description]    (hg19-Feb_2009)
GoldenPathATP13A2 - 1p36.13 [CytoView hg19]  ATP13A2 - 1p36.13 [CytoView hg38]
ImmunoBaseENSG00000159363
Genome Data Viewer NCBIATP13A2 [Mapview hg19]  
OMIM606693   610513   617225   
Gene and transcription
Genbank (Entrez)AJ009947 AK025928 AK075310 AK290210 AL354615
RefSeq transcript (Entrez)NM_001141973 NM_001141974 NM_022089
Consensus coding sequences : CCDS (NCBI)ATP13A2
Gene ExpressionATP13A2 [ NCBI-GEO ]   ATP13A2 [ EBI - ARRAY_EXPRESS ]   ATP13A2 [ SEEK ]   ATP13A2 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP13A2 [ Firebrowse - Broad ]
GenevisibleExpression of ATP13A2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23400
GTEX Portal (Tissue expression)ATP13A2
Human Protein AtlasENSG00000159363-ATP13A2 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9NQ11
Domaine pattern : Prosite (Expaxy)ATPASE_E1_E2 (PS00154)   
Domains : Interpro (EBI)ATPase_P-typ_cyto_dom_N    ATPase_P-typ_P_site    ATPase_P-typ_TM_dom_sf    ATPase_P-typ_transduc_dom_A_sf    HAD-like_sf    HAD_sf    P-type_TPase_V    P_typ_ATPase   
Domain families : Pfam (Sanger)P5-ATPase (PF12409)   
Domain families : Pfam (NCBI)pfam12409   
Conserved Domain (NCBI)ATP13A2
SuperfamilyQ9NQ11
AlphaFold pdb e-kbQ9NQ11   
Human Protein Atlas [tissue]ENSG00000159363-ATP13A2 [tissue]
HPRD13677
Protein Interaction databases
DIP (DOE-UCLA)Q9NQ11
IntAct (EBI)Q9NQ11
BioGRIDATP13A2
STRING (EMBL)ATP13A2
ZODIACATP13A2
Ontologies - Pathways
QuickGOQ9NQ11
Ontology : AmiGOautophagosome membrane  protein binding  ATP binding  lysosome  lysosomal membrane  lysosomal membrane  lysosomal membrane  late endosome  multivesicular body  multivesicular body  autophagosome  cellular calcium ion homeostasis  cellular calcium ion homeostasis  cellular iron ion homeostasis  cellular zinc ion homeostasis  autophagy  lysosomal transport  zinc ion binding  positive regulation of gene expression  regulation of mitochondrion organization  regulation of mitochondrion organization  ABC-type polyamine transporter activity  integral component of membrane  regulation of macroautophagy  regulation of macroautophagy  regulation of autophagosome size  ATPase  ATPase  ATPase-coupled cation transmembrane transporter activity  cellular cation homeostasis  transport vesicle  manganese ion binding  late endosome membrane  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  lipid homeostasis  protein localization to lysosome  autophagosome-lysosome fusion  phosphatidic acid binding  cellular response to manganese ion  cellular response to manganese ion  cellular response to zinc ion  phosphatidylinositol-3,5-bisphosphate binding  extracellular exosome biogenesis  regulation of protein localization to nucleus  negative regulation of neuron death  negative regulation of neuron death  polyamine transmembrane transport  cupric ion binding  regulation of autophagy of mitochondrion  positive regulation of exosomal secretion  positive regulation of exosomal secretion  spermine transmembrane transport  regulation of chaperone-mediated autophagy  autophagosome organization  integral component of lysosomal membrane  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  regulation of ubiquitin-specific protease activity  
Ontology : EGO-EBIautophagosome membrane  protein binding  ATP binding  lysosome  lysosomal membrane  lysosomal membrane  lysosomal membrane  late endosome  multivesicular body  multivesicular body  autophagosome  cellular calcium ion homeostasis  cellular calcium ion homeostasis  cellular iron ion homeostasis  cellular zinc ion homeostasis  autophagy  lysosomal transport  zinc ion binding  positive regulation of gene expression  regulation of mitochondrion organization  regulation of mitochondrion organization  ABC-type polyamine transporter activity  integral component of membrane  regulation of macroautophagy  regulation of macroautophagy  regulation of autophagosome size  ATPase  ATPase  ATPase-coupled cation transmembrane transporter activity  cellular cation homeostasis  transport vesicle  manganese ion binding  late endosome membrane  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  lipid homeostasis  protein localization to lysosome  autophagosome-lysosome fusion  phosphatidic acid binding  cellular response to manganese ion  cellular response to manganese ion  cellular response to zinc ion  phosphatidylinositol-3,5-bisphosphate binding  extracellular exosome biogenesis  regulation of protein localization to nucleus  negative regulation of neuron death  negative regulation of neuron death  polyamine transmembrane transport  cupric ion binding  regulation of autophagy of mitochondrion  positive regulation of exosomal secretion  positive regulation of exosomal secretion  spermine transmembrane transport  regulation of chaperone-mediated autophagy  autophagosome organization  integral component of lysosomal membrane  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  regulation of ubiquitin-specific protease activity  
NDEx NetworkATP13A2
Atlas of Cancer Signalling NetworkATP13A2
Wikipedia pathwaysATP13A2
Orthology - Evolution
OrthoDB23400
GeneTree (enSembl)ENSG00000159363
Phylogenetic Trees/Animal Genes : TreeFamATP13A2
Homologs : HomoloGeneATP13A2
Homology/Alignments : Family Browser (UCSC)ATP13A2
Gene fusions - Rearrangements
Fusion : MitelmanUBR4/ATP13A2 [1p36.13/1p36.13]  
Fusion : QuiverATP13A2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP13A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP13A2
dbVarATP13A2
ClinVarATP13A2
MonarchATP13A2
1000_GenomesATP13A2 
Exome Variant ServerATP13A2
GNOMAD BrowserENSG00000159363
Varsome BrowserATP13A2
ACMGATP13A2 variants
VarityQ9NQ11
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]  
Somatic Mutations in Cancer : COSMIC3DATP13A2
Mutations and Diseases : HGMDATP13A2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaATP13A2
DgiDB (Drug Gene Interaction Database)ATP13A2
DoCM (Curated mutations)ATP13A2
CIViC (Clinical Interpretations of Variants in Cancer)ATP13A2
Cancer3DATP13A2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606693    610513    617225   
Orphanet21506    21249   
DisGeNETATP13A2
MedgenATP13A2
Genetic Testing Registry ATP13A2
NextProtQ9NQ11 [Medical]
GENETestsATP13A2
Target ValidationATP13A2
Huge Navigator ATP13A2 [HugePedia]
ClinGenATP13A2
Clinical trials, drugs, therapy
MyCancerGenomeATP13A2
Protein Interactions : CTDATP13A2
Pharm GKB GenePA134897221
PharosQ9NQ11
Clinical trialATP13A2
Miscellaneous
canSAR (ICR)ATP13A2
HarmonizomeATP13A2
DataMed IndexATP13A2
Probes
Litterature
PubMed109 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXATP13A2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:00:30 CEST 2021

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