Gene: ATP13A2

Alternate names for this Gene: CLN12|HSA9947|KRPPD|PARK9|SPG78

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.13

Description of this Gene: ATPase cation transporting 13A2

Type of Gene: protein-coding

rs4920605 in ATP13A2 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs3170740 in ATP13A2 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.

PMID 20189936 2010 A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.

rs2076603 in ATP13A2 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1303653650 in ATP13A2 gene and Dysmorphic features PMID 20683840 2010 Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations.

PMID 20853184 2011 Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.

PMID 17485642 2007 ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.

PMID 16964263 2006 Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.

PMID 25149416 2014 Correlation between the biochemical pathways altered by mutated parkinson-related genes and chronic exposure to manganese.

PMID 25197640 2014 Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review.

PMID 22198378 2012 ATP13A2 regulates mitochondrial bioenergetics through macroautophagy.

PMID 22388936 2012 Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.

PMID 21060012 2010 Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype.

PMID 21665991 2011 Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death.

rs3738814 in ATP13A2 gene and Height PMID 20189936 2010 A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.

rs121918227 in ATP13A2 gene and KUFOR-RAKEB SYNDROME PMID 17485642 2007 ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.

PMID 18413573 2008 PARK9-linked parkinsonism in eastern Asia: mutation detection in ATP13A2 and clinical phenotype.

PMID 22768177 2012 Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism.

PMID 16964263 2006 Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.

PMID 20683840 2010 Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations.

PMID 20853184 2011 Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.

PMID 22296644 2012 ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome.

PMID 28137957 2017 Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).

PMID 23279440 2013 EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.

PMID 21542062 2011 Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.

PMID 22388936 2012 Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.

PMID 21542062 2011 Recently, we identified novel compound heterozygous mutations, c.3176T>G (p.L1059R) and c.3253delC (p.L1085WfsX1088) in ATP13A2 of two siblings affected with KRS.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 21696388 2012 Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9).

PMID 21665991 2011 Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death.

PMID 21060012 2010 Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype.

rs3738814 in ATP13A2 gene and Physical Activity Measurement PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

rs758014228 in ATP13A2 gene and SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE PMID 21696388 2012 Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9).

PMID 16964263 2006 Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.

rs4920608 in ATP13A2 gene and Tonometry PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.