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FLASH GENE
Symbol ATP13A2 contributors: mct/npt - updated : 12-12-2012
HGNC name ATPase type 13A2
HGNC id 30213
Corresponding disease
CLN12 ceroid-lipofuscinosis, neuronal, 12
PARK9 Parkinson disease 9
Location 1p36.13      Physical location : 17.312.452 - 17.338.423
Synonym name putative ATPase
Synonym symbol(s) HSA9947, RP1-37C10.4, FLJ26510, KRPPD
EC.number 3.6.3.8
DNA
TYPE functioning gene
STRUCTURE 25.97 kb     29 Exon(s)
regulatory sequence Promoter
Binding site   HRE
text structure
  • contains hypoxia response elements which can bind to transcription factor hypoxia-inducible factor 1alpha (HIF1A)
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    29 - 3996 130 1180 . localized to lysosomes 2011 21665991
  • Isoform 1
  • 10 transmembrane domains
  • 29 - 3981 128 1175 - 2011 21665991
  • Isoform 2
  • containing a small five amino acid in-frame deletion near the N-terminus
  • 27 - 3694 126 1158 . localized to the ER and rapidly degraded 2011 21665991
  • Isoform 3
  • contains an additional downstream in-frame deletion of 117 bases and an out-of-frame deletion of 170 bases removing 39 amino acids and generating a highly diverged C-terminus
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine   
    Endocrinepancreas   highly
    Nervousbrainmidbrainsubstantia nigra   Homo sapiens
     brain   predominantly Homo sapiens
     brainforebraincerebral cortex   Homo sapiens
     nervecranial nerve  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervouspyramidal cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    Text brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • 10 transmembrane domains
  • HOMOLOGY
    interspecies homolog to murine Atp13a2
    Homologene
    FAMILY
  • cation transport ATPase (P-type) family
  • type V subfamily
  • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    text
  • localized, at least in part, to lysosomes where it may participate in the ATP-dependent transport of cations across vesicular membranes
  • localized to a number of acidic vesicular compartments within cortical neurons, particularly lysosomes and endosomes
  • basic FUNCTION
  • having a ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism
  • protein with similarity to P-type ATPases
  • regulates mitochondrial bioenergetics through macroautophagy
  • is predicted to mediate the transport of heavy metal cations, including cadmium, nickel, manganese and selenium
  • role for ATP13A2 in regulating intracellular cation transport
  • may play a role in regulating calcium homeostasis
  • implicated in vesicular trafficking
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text cation transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, nucleotide,
  • ATP
  • ion Mg2+
  • protein
    cell & other
    REGULATION
    Other hypoxia signaling plays a very important role in the regulation of human ATP13A2 gene expression
    ASSOCIATED DISORDERS
    corresponding disease(s) PARK9 , CLN12
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    plays a role in SNCA misfolding and toxicity
    constitutional        
    silencing of ATP13A2 expression in cortical and dopaminergic neurons promotes basal mitochondrial fragmentation and sensitizes to the effects of cadmium exposure
    Susceptibility to Parkinson disease
    Variant & Polymorphism other rare variant of the ATP13A2 associated with an increased risk of Parkinson disease among ethnic Chinese in Asia Lin 2008)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS