Property Summary

NCBI Gene PubMed Count 80
PubMed Score 92.53
PubTator Score 116.78

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
glioblastoma -1.100 2.8e-06
adult high grade glioma -1.100 9.9e-04
sonic hedgehog group medulloblastoma -1.300 7.9e-05

 GWAS Trait (1)

Gene RIF (69)

PMID Text
26818499 tre results of this study suggests that the expression of ATP13A2 regulated by the PHD2-HIF1alpha signaling pathway,and this is instrumental in maintaining cellular iron homeostasis and cell viability in mitochondrially compromised DAergic neurons.
26134396 that ATP13A2 contains a unique N-terminal hydrophobic extension that lies on the cytosolic membrane surface of the lysosome, where it interacts with the lysosomal signaling lipids phosphatidic acid and phosphatidylinositol(3,5)bisphosphate.
25912790 ATP13A2 overexpression improves the lysosome membrane integrity and protects against iron-induced cell damage.
25855184 This study demonistrated that loss of ATP13A2 causes a specific protein trafficking defect, and that Atp13a2 null mice develop age-related motor dysfunction that is preceded by neuropathological changes.
25392495 these data suggest the involvement of PARK9 in the biogenesis of exosomes and alpha-synuclein secretion.
25374329 The mutation rates of Thr12Met and Ala1144Thr of ATP13A2 in the Uygur and Han Parkinson's disease patients in the Xinjiang region are low.
25197640 A review of recent advances in the emerging association of ATP13A2 mutations with Parkinsonism and neuronal ceroid lipofuscinoses.
24949580 Present results of homozygosity mapping in two siblings affected with early onset Parkinson's disease (EOPD) and mutation screening of ATP13A2. The variation identified represents the 13th known disease causing mutation in ATP13A2.
24603074 Reduced ATP13A2 expression significantly decreased vesicular zinc levels, indicating ATP13A2 facilitates transport of zinc.
24399444 human ATP13A2 deficiency results in zinc dyshomeostasis and mitochondrial dysfunction.
24334770 PARK9 loss of function leads to dyshomeostasis of intracellular Zn(2+) that in turn contributes to lysosomal dysfunction and accumulation of alpha-Syn.
24252509 Data show that patients with Lewy body diseases have an overall deficit in ATP13A2 protein levels, with the remaining protein being more insoluble and partially redistributing towards Lewy bodies
23522931 No association is found between ATP13A2 Ala746Thr and early onset Parkinson's disease (EOPD) or late onset Parkinson's in a Chinese cohort; this variant is not a strong risk factor in the Chinese population.
23499937 Cathepsin D activity was decreased in ATP13A2-knockdown cells that displayed lysosome-like bodies characterized by fingerprint-like structures
23205587 the human P5B-ATPase ATP13A2 is involved in polyamine uptake.
23196729 Mutations in ATP13A2 is often associated with rapidly progressive parkinsonism and with additional features including pyramidal signs, cognitive decline and loss of sustained Levodopa responsiveness.
23121889 ATP13A2 knockout exacerbates apoptosis and autophagy in infarct penumbra of cerebral cortex, with no influence on the infarct size in mice with ischemic stroke.
22847264 ATP13A2 protects against manganese & nickel toxicity, & proteasomal, mitochondrial, & oxidative stress. ATP13A2 may import a cofactor required for the function of a lysosome enzyme(s).
22768177 This study provides support for common loss-of-function effects of homozygous and heterozygous missense mutations in ATP13A2 associated with early-onset forms of parkinsonism.
22743658 Our results indicate that ATP13A2 mutations are a rare cause of both NBIA and dystonia-parkinsonism.
22647602 results unravel an instrumental role of ATP13A2 deficiency on lysosomal function and cell viability and demonstrate the feasibility and therapeutic potential of modulating ATP13A2 levels in the context of PD
22645275 ATP13A2 and alpha-syn are functionally linked in neurodegeneration.
22490479 The SNPs investigated in the BST1, PARK15 and PARK9 genes associated with PD susceptibility are not associated with PD in the northern Han Chinese population.
22457822 results confirm a role for Ypk9 in manganese homeostasis and illuminates cellular pathways and biological processes in which Ypk9 likely functions
22442086 This study demonistrated that restoration of ATP13A2 function may lead to improved lysosomal function and decreased accumulation of alpha-syn.
22388936 Data show that a family with typical neuronal ceroid lipofuscinoses (NCLs) pathology carried a single homozygous mutation in ATP13A2 that fully segregates with disease.
22296644 These findings collectively suggest that ATP13A2 contributes to the maintenance of a healthy mitochondrial pool, supporting the hypothesis that impaired mitochondrial clearance represents an important pathogenic mechanism underlying KRS.
22288903 hypoxia signaling plays a very important role in the regulation of human ATP13A2 gene expression
22285144 ATP13A2 variation may be a risk marker for neurotoxic effects of manganese in humans.
22186024 study reveals a number of intriguing neuronal phenotypes due to the loss- or gain-of-function of ATP13A2 that support a role for this protein in regulating intracellular cation homeostasis and neuronal integrity
22117566 The altered apoptotic pattern of subjects with mutated ATP13A2 suggests a correlation between apoptosis alteration and the mutated ATP13A2 protein
22104014 This study demonistrated that contralateral silent period duration was increased in the symptomatic ATP13A2 mutation carriers suggested that compound heterozygous mutation in the ATP13A2 gene is associated with increased intracortical inhibition.
21724849 Regulation of intracellular manganese homeostasis by Kufor-Rakeb syndrome-associated ATP13A2 protein.
21714071 rare variants of ATP13A2 may contribute to Parkinson's disease susceptibility in Taiwan
21696388 a novel frame-shift mutation in exon 22 of ATP13A2 (c.2473C>AA, p.Leu825AsnfsX32).
21665991 Mutant Atp13a2 proteins are degraded by endoplasmic reticulum-associated degradation and sensitize cells to cell death.
21542062 premature degradation of mutant ATP13A2 mRNA contribute to the aetiology of Kufor-Rakeb syndrome (KRS).
21362476 To see if ATP13A2 mutations could be responsible for some cases of human adult-onset NCL (Kufs disease), we resequenced ATP13A2 from 28 Kufs disease patients. None of these patients had ATP13A2 sequence variants likely to be causal for their disease
21094623 A novel frameshift mutation in ATP13A2 causes juvenile dystonia-parkinsonism and dementia.
21060012 Single ATP13A2 heterozygous mutations may be associated with clinical signs of parkinsonism and contribute to structural and functional brain changes.
20976737 These results suggested that ATP13A2 p.A746T variant is unlikely to play a role as a common risk factor or a pathogenic mutation for PD at least in Japanese. Our data on Japanese differ from those reported recently on Han-Chinese.
20976737 Observational study of gene-disease association. (HuGE Navigator)
20853184 report clinical, instrumental, and genetic findings in an Italian family with novel PARK9 and PARK15 mutations
20842691 We found no evidence for a correlation between a single heterozygous mutation in the ATP13a2 gene and the development of distinct oculomotor disturbances.
20816920 No clearly pathogenic mutations are identified in ATP13A2 and GIGYF2 in Brazilian patients with early-onset Parkinson's disease.
20816920 Observational study of gene-disease association. (HuGE Navigator)
20669327 We identified genetic deficits in ATP13A2 that were associated with Levodopa responsive parkinsonism with pyramidal signs.
20483373 Observational study of gene-disease association. (HuGE Navigator)
20310007 KRD should be considered in patients with dystonia-parkinsonism with iron on brain imaging and we suggest classifying as NBIA type 3
20227461 Ala746Thr variant was not a major susceptible factor for PD in Han Chinese people.
20227461 Observational study of gene-disease association. (HuGE Navigator)
20137506 Research studied the prevalence of mutations in ATP13A2 genes in 30 unrelated Chinese families with AREP and found no pathogenic mutations.
20137506 Observational study of gene-disease association. (HuGE Navigator)
20036179 ATP13A2 G2236A variant is rare in early-onset Parkinson's disease and familial Parkinson's disease patients from mainland China, which differs from the study in ethnic Chinese patients from Taiwan and Singapore
20036179 Observational study of gene-disease association. (HuGE Navigator)
19806583 ATP13A2 gene mutations are rare in Chinese patients with familial autosomal recessive early-onset parkinsonism.
19705361 Our data suggest that two mutated ATP13A2 alleles are not a common cause of Parkinson's disease
19705361 Observational study of gene-disease association. (HuGE Navigator)
19224617 This study found that no associations were seen for ATP13A2 in Australia patient with Parkinson's disease
19224617 Observational study of gene-disease association. (HuGE Navigator)
19097176 Observational study of gene-disease association. (HuGE Navigator)
19085912 Neither ATP13A2 genetic variability nor quantitative gene expression in brain appears to contribute to familial parkinsonism or nonfamilial PD.
19085912 Observational study of gene-disease association. (HuGE Navigator)
19015489 A rare variant(AL746Thr) of the ATP13A2 was associated with an increased risk of Parkinson disease among ethnic Chinese in Asia. Further studies are needed to clarify the functional role of this genetic risk factor.
19015489 Observational study of gene-disease association. (HuGE Navigator)
18785233 Mutations in ATP13A2 gene may be rare in Chinese families with autosomal recessive early-onset Parkinsonism.
18413573 Findings expand the phenotypic spectrum associated with PARK9-linked parkinsonism into multiple-system disorders.
17485642 Observational study of genotype prevalence. (HuGE Navigator)
17485642 Our data also suggest that ATP13A2 single heterozygous mutations might be etiologically relevant for patients with YOPD and further studies of this gene in Parkinson disease are warranted.

AA Sequence

MSADSSPLVGSTPTGYGTLTIGTSIDPLSSSVSSVRLSGYCGSPWRVIGYHVVVWMMAGIPLLLFRWKPL      1 - 70
WGVRLRLRPCNLAHAETLVIEIRDKEDSSWQLFTVQVQTEAIGEGSLEPSPQSQAEDGRSQAAVGAVPEG     71 - 140
AWKDTAQLHKSEEAVSVGQKRVLRYYLFQGQRYIWIETQQAFYQVSLLDHGRSCDDVHRSRHGLSLQDQM    141 - 210
VRKAIYGPNVISIPVKSYPQLLVDEALNPYYGFQAFSIALWLADHYYWYALCIFLISSISICLSLYKTRK    211 - 280
QSQTLRDMVKLSMRVCVCRPGGEEEWVDSSELVPGDCLVLPQEGGLMPCDAALVAGECMVNESSLTGESI    281 - 350
PVLKTALPEGLGPYCAETHRRHTLFCGTLILQARAYVGPHVLAVVTRTGFCTAKGGLVSSILHPRPINFK    351 - 420
FYKHSMKFVAALSVLALLGTIYSIFILYRNRVPLNEIVIRALDLVTVVVPPALPAAMTVCTLYAQSRLRR    421 - 490
QGIFCIHPLRINLGGKLQLVCFDKTGTLTEDGLDVMGVVPLKGQAFLPLVPEPRRLPVGPLLRALATCHA    491 - 560
LSRLQDTPVGDPMDLKMVESTGWVLEEEPAADSAFGTQVLAVMRPPLWEPQLQAMEEPPVPVSVLHRFPF    561 - 630
SSALQRMSVVVAWPGATQPEAYVKGSPELVAGLCNPETVPTDFAQMLQSYTAAGYRVVALASKPLPTVPS    631 - 700
LEAAQQLTRDTVEGDLSLLGLLVMRNLLKPQTTPVIQALRRTRIRAVMVTGDNLQTAVTVARGCGMVAPQ    701 - 770
EHLIIVHATHPERGQPASLEFLPMESPTAVNGVKDPDQAASYTVEPDPRSRHLALSGPTFGIIVKHFPKL    771 - 840
LPKVLVQGTVFARMAPEQKTELVCELQKLQYCVGMCGDGANDCGALKAADVGISLSQAEASVVSPFTSSM    841 - 910
ASIECVPMVIREGRCSLDTSFSVFKYMALYSLTQFISVLILYTINTNLGDLQFLAIDLVITTTVAVLMSR    911 - 980
TGPALVLGRVRPPGALLSVPVLSSLLLQMVLVTGVQLGGYFLTLAQPWFVPLNRTVAAPDNLPNYENTVV    981 - 1050
FSLSSFQYLILAAAVSKGAPFRRPLYTNVPFLVALALLSSVLVGLVLVPGLLQGPLALRNITDTGFKLLL   1051 - 1120
LGLVTLNFVGAFMLESVLDQCLPACLRRLRPKRASKKRFKQLERELAEQPWPPLPAGPLR             1121 - 1180
//

Text Mined References (80)

PMID Year Title
26818499 2016 Regulation of ATP13A2 via PHD2-HIF1? Signaling Is Critical for Cellular Iron Homeostasis: Implications for Parkinson's Disease.
26392192 2015 Unlocking ATP13A2/PARK9 activity.
26134396 2015 A lipid switch unlocks Parkinson's disease-associated ATP13A2.
25912790 2015 The Parkinson-associated human P5B-ATPase ATP13A2 protects against the iron-induced cytotoxicity.
25855184 2015 ?-Synuclein-independent histopathological and motor deficits in mice lacking the endolysosomal Parkinsonism protein Atp13a2.
25548531 2014 ATP13A2 and Alpha-synuclein: a Metal Taste in Autophagy.
25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
25392495 2014 ATP13A2/PARK9 regulates secretion of exosomes and ?-synuclein.
25374329 2014 Analysis of Thr12Met and Ala1144Thr mutations of the ATP13A2 gene in Parkinson's disease patients in Xinjiang Uygur and Han ethnic groups.
25197640 2014 Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review.
24949580 2014 Identification of p.Gln858* in ATP13A2 in two EOPD patients and presentation of their clinical features.
24603074 2014 Parkinson's disease-linked human PARK9/ATP13A2 maintains zinc homeostasis and promotes ?-Synuclein externalization via exosomes.
24399444 2014 Parkinson's disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunction.
24334770 2014 Zn²? dyshomeostasis caused by loss of ATP13A2/PARK9 leads to lysosomal dysfunction and alpha-synuclein accumulation.
24252804 2013 The role of oxidative stress in Parkinson's disease.
24252509 2013 ATP13A2 (PARK9) protein levels are reduced in brain tissue of cases with Lewy bodies.
23628791 2013 Down-regulation of LRRK2 in control and DAT transfected HEK cells increases manganese-induced oxidative stress and cell toxicity.
23522931 2013 The role of the Ala746Thr variant in the ATP13A2 gene among Chinese patients with Parkinson's disease.
23499937 2013 ATP13A2 deficiency induces a decrease in cathepsin D activity, fingerprint-like inclusion body formation, and selective degeneration of dopaminergic neurons.
23205587 2013 Parkinson's disease-associated human P5B-ATPase ATP13A2 increases spermidine uptake.
23202360 2013 Interaction of divalent cations with peptide fragments from Parkinson's disease genes.
23196729 2012 Early-onset autosomal-recessive parkinsonian-pyramidal syndrome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23121889 2012 ATP13A2 knockout does not affect the infarct size in mice with acute ischemic stroke.
22885599 2012 Lysosomal dysfunction in Parkinson disease: ATP13A2 gets into the groove.
22847264 2012 Characterization of cellular protective effects of ATP13A2/PARK9 expression and alterations resulting from pathogenic mutants.
22768177 2012 Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism.
22743658 2012 Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts.
22647602 2012 Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration.
22645275 2012 Identification of novel ATP13A2 interactors and their role in ?-synuclein misfolding and toxicity.
22490479 2012 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.
22457822 2012 The role of the Parkinson's disease gene PARK9 in essential cellular pathways and the manganese homeostasis network in yeast.
22442086 2012 Deficiency of ATP13A2 leads to lysosomal dysfunction, ?-synuclein accumulation, and neurotoxicity.
22388936 2012 Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.
22361905 2012 Mn(II) and Zn(II) interactions with peptide fragments from Parkinson's disease genes.
22296644 2012 ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome.
22288903 2012 Hypoxia regulation of ATP13A2 (PARK9) gene transcription.
22285144 2012 ATP13A2 (PARK9) polymorphisms influence the neurotoxic effects of manganese.
22198378 2012 ATP13A2 regulates mitochondrial bioenergetics through macroautophagy.
22186024 2012 PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity.
22117566 2012 Altered apoptosis regulation in Kufor-Rakeb syndrome patients with mutations in the ATP13A2 gene.
22104014 2012 Motor pathway excitability in ATP13A2 mutation carriers: a transcranial magnetic stimulation study.
21724849 2011 Regulation of intracellular manganese homeostasis by Kufor-Rakeb syndrome-associated ATP13A2 protein.
21714071 2011 ATP13A2 variability in Taiwanese Parkinson's disease.
21696388 2012 Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9).
21665991 2011 Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death.
21542062 2011 Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.
21362476 2011 A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers.
21094623 2011 Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation.
21060012 2010 Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype.
20976737 2010 Rapid screening of ATP13A2 variant with high-resolution melting analysis.
20853184 2011 Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.
20842691 2010 Eye movement disorders in ATP13A2 mutation carriers (PARK9).
20816920 2010 Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease.
20683840 2010 Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations.
20669327 2010 Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.
20483373 2010 Structural imaging in the presymptomatic stage of genetically determined parkinsonism.
20310007 2010 ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation.
20227461 2010 Lack of association between ATP13A2 Ala746Thr variant and Parkinson's disease in Han population of mainland China.
20189936 2010 A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
20137506 2009 A new variant of the ATP13A2 gene in Chinese patients with early-onset parkinsonism.
20036179 2010 ATP13A2 G2236A variant is rare in patients with early-onset Parkinson's disease and familial Parkinson's disease from Mainland China.
19806583 2009 [Mutation analysis of ATP13A2 gene in Chinese patients with familial autosomal recessive early-onset parkinsonism].
19705361 2009 ATP13A2 variants in early-onset Parkinson's disease patients and controls.
19224617 2009 Do polymorphisms in the familial Parkinsonism genes contribute to risk for sporadic Parkinson's disease?
19097176 2009 Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease.
19085912 2009 ATP13A2 variability in Parkinson disease.
19015489 2008 Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore.
18785233 2008 Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism.
18413573 2008 PARK9-linked parkinsonism in eastern Asia: mutation detection in ATP13A2 and clinical phenotype.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17897319 2007 Integral and associated lysosomal membrane proteins.
17485642 2007 ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.
16964263 2006 Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15381061 2004 Characterization of the P5 subfamily of P-type transport ATPases in mice.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11584046 2001 Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36.