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Aliases for ATP13A2 Gene

Aliases for ATP13A2 Gene

  • ATPase Type 13A2 2 3
  • PARK9 3 4 6
  • CLN12 3 6
  • KRPPD 3 6
  • Parkinson Disease (Autosomal Recessive) 9 (Kufor-Rakeb Syndrome) 2
  • Probable Cation-Transporting ATPase 13A2 3
  • EC 3.6.3.5 63
  • EC 3.6.3.8 63
  • EC 3.6.3.- 4
  • EC 3.6.3 63
  • HSA9947 3

External Ids for ATP13A2 Gene

Previous Symbols for ATP13A2 Gene

  • PARK9

Summaries for ATP13A2 Gene

Entrez Gene Summary for ATP13A2 Gene

  • 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.[provided by RefSeq, Nov 2008]

GeneCards Summary for ATP13A2 Gene

ATP13A2 (ATPase Type 13A2) is a Protein Coding gene. Diseases associated with ATP13A2 include kufor-rakeb syndrome and parkinson disease type 9. Among its related pathways are Neuroscience. GO annotations related to this gene include cation-transporting ATPase activity. An important paralog of this gene is ATP13A3.

UniProtKB/Swiss-Prot for ATP13A2 Gene

  • May play a role in intracellular cation homeostasis and the maintenance of neuronal integrity.

Gene Wiki entry for ATP13A2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP13A2 Gene

Genomics for ATP13A2 Gene

Genomic Location for ATP13A2 Gene

Start:
16,985,958 bp from pter
End:
17,011,972 bp from pter
Size:
26,015 bases
Orientation:
Minus strand

Genomic View for ATP13A2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATP13A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP13A2 Gene

Regulatory Elements for ATP13A2 Gene

Proteins for ATP13A2 Gene

  • Protein details for ATP13A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQ11-AT132_HUMAN
    Recommended name:
    Probable cation-transporting ATPase 13A2
    Protein Accession:
    Q9NQ11
    Secondary Accessions:
    • O75700
    • Q5JXY1
    • Q5JXY2
    • Q6S9Z9

    Protein attributes for ATP13A2 Gene

    Size:
    1180 amino acids
    Molecular mass:
    128794 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAA08912.1; Type=Frameshift; Positions=1054; Evidence={ECO:0000305};

    Alternative splice isoforms for ATP13A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP13A2 Gene

Proteomics data for ATP13A2 Gene at MOPED

Selected DME Specific Peptides for ATP13A2 Gene

Post-translational modifications for ATP13A2 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys68, Lys143, Lys693, Lys835, Lys843, and Lys859

Domains for ATP13A2 Gene

Gene Families for ATP13A2 Gene

HGNC:
  • PARK :Parkinson disease
  • PATP :ATPases / P-type

Graphical View of Domain Structure for InterPro Entry

Q9NQ11

UniProtKB/Swiss-Prot:

AT132_HUMAN
Family:
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily.:
    • Q9NQ11
genes like me logo Genes that share domains with ATP13A2: view

Function for ATP13A2 Gene

Molecular function for ATP13A2 Gene

UniProtKB/Swiss-Prot CatalyticActivity: ATP + H(2)O = ADP + phosphate
UniProtKB/Swiss-Prot Function: May play a role in intracellular cation homeostasis and the maintenance of neuronal integrity.

Enzyme Numbers (IUBMB) for ATP13A2 Gene

Gene Ontology (GO) - Molecular Function for ATP13A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding --
GO:0005515 protein binding IPI 22645275
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity NAS 24252804
GO:0019829 cation-transporting ATPase activity --
genes like me logo Genes that share ontologies with ATP13A2: view

Phenotypes for ATP13A2 Gene

genes like me logo Genes that share phenotypes with ATP13A2: view

Animal Models for ATP13A2 Gene

MGI Knock Outs for ATP13A2:

miRNA for ATP13A2 Gene

miRTarBase miRNAs that target ATP13A2

No data available for Transcription Factor Targeting and HOMER Transcription for ATP13A2 Gene

Localization for ATP13A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP13A2 Gene

Membrane; Multi-pass membrane protein. Lysosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP13A2 Gene COMPARTMENTS Subcellular localization image for ATP13A2 gene
Compartment Confidence
lysosome 5
vacuole 5
plasma membrane 3
endoplasmic reticulum 1
endosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ATP13A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IDA 21542062
GO:0005765 lysosomal membrane IDA 17897319
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ATP13A2: view

Pathways for ATP13A2 Gene

SuperPathways for ATP13A2 Gene

Superpath Contained pathways
1 Neuroscience
genes like me logo Genes that share pathways with ATP13A2: view

Pathways by source for ATP13A2 Gene

1 Cell Signaling Technology pathway for ATP13A2 Gene

Gene Ontology (GO) - Biological Process for ATP13A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006812 cation transport IEA --
GO:0008152 metabolic process NAS 24252804
GO:0008219 cell death --
GO:0071287 cellular response to manganese ion TAS 23628791
genes like me logo Genes that share ontologies with ATP13A2: view

Transcripts for ATP13A2 Gene

Unigene Clusters for ATP13A2 Gene

ATPase type 13A2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATP13A2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b · 15c · 15d ·
SP1: - - - -
SP2: - - -
SP3: - - - -
SP4: -
SP5:
SP6:
SP7: - -
SP8: -
SP9: -
SP10:
SP11:

ExUns: 15e ^ 16 ^ 17 ^ 18a · 18b · 18c ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27a · 27b ^ 28 ^ 29a · 29b
SP1: - -
SP2: - -
SP3: - - - -
SP4:
SP5: - -
SP6:
SP7:
SP8: - - -
SP9: -
SP10:
SP11:

Relevant External Links for ATP13A2 Gene

GeneLoc Exon Structure for
ATP13A2
ECgene alternative splicing isoforms for
ATP13A2

Expression for ATP13A2 Gene

mRNA expression in normal human tissues for ATP13A2 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATP13A2 Gene

SOURCE GeneReport for Unigene cluster for ATP13A2 Gene Hs.128866

mRNA Expression by UniProt/SwissProt for ATP13A2 Gene

Q9NQ11-AT132_HUMAN
Tissue specificity: Expressed in brain; protein levels are markedly increased in brain from subjects with Parkinson disease and subjects with dementia with Lewy bodies. Detected in pyramidal neurons located throughout the cingulate cortex (at protein level). In the substantia nigra, it is found in neuromelanin-positive dopaminergic neurons (at protein level).
genes like me logo Genes that share expressions with ATP13A2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ATP13A2 Gene

Orthologs for ATP13A2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATP13A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP13A2 35
  • 98.95 (n)
  • 98.77 (a)
ATP13A2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATP13A2 35
  • 86.53 (n)
  • 84.5 (a)
ATP13A2 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP13A2 35
  • 87.18 (n)
  • 87.09 (a)
ATP13A2 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp13a2 35
  • 85.14 (n)
  • 86.23 (a)
Atp13a2 16
Atp13a2 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP13A2 36
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP13A2 36
  • 49 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp13a2 35
  • 84.83 (n)
  • 85.59 (a)
chicken
(Gallus gallus)
Aves ATP13A2 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 36 (a)
ManyToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.2717 35
zebrafish
(Danio rerio)
Actinopterygii atp13a2 35
  • 58.24 (n)
  • 54.17 (a)
atp13a2 36
  • 52 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG32000 36
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea catp-5 36
  • 33 (a)
ManyToMany
catp-6 36
  • 34 (a)
ManyToMany
catp-7 36
  • 35 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPK9 36
  • 27 (a)
OneToMany
Species with no ortholog for ATP13A2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ATP13A2 Gene

ENSEMBL:
Gene Tree for ATP13A2 (if available)
TreeFam:
Gene Tree for ATP13A2 (if available)

Paralogs for ATP13A2 Gene

Paralogs for ATP13A2 Gene

Selected SIMAP similar genes for ATP13A2 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with ATP13A2: view

Variants for ATP13A2 Gene

Sequence variations from dbSNP and Humsavar for ATP13A2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs15786 -- 16,986,097(+) GGGGA(A/G)GAGTG utr-variant-3-prime, reference, missense
rs761421 Benign 16,987,159(-) CGGGT(A/G)CGGCC synonymous-codon, reference
rs926702 -- 17,010,026(-) CCCCA(A/C)ACAGC intron-variant
rs1064042 -- 16,986,179(-) TGCCT(C/T)TGAGC utr-variant-3-prime, reference, synonymous-codon
rs2076600 -- 17,010,896(-) CTCCC(C/T)GCCGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP13A2 Gene

Variant ID Type Subtype PubMed ID
dgv29e1 CNV Complex 17122850
nsv428421 CNV Gain+Loss 18775914
dgv30e1 CNV Complex 17122850
dgv40e1 CNV Complex 17122850
nsv834269 CNV Loss 17160897
nsv834280 CNV Loss 17160897
nsv508947 CNV Insertion 20534489
dgv184n71 CNV Loss 21882294
dgv185n71 CNV Loss 21882294

Relevant External Links for ATP13A2 Gene

HapMap Linkage Disequilibrium report
ATP13A2
Human Gene Mutation Database (HGMD)
ATP13A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP13A2 Gene

Disorders for ATP13A2 Gene

(1) OMIM Diseases for ATP13A2 Gene (610513)

UniProtKB/Swiss-Prot

AT132_HUMAN
  • Kufor-Rakeb syndrome (KRS) [MIM:606693]: A rare form of autosomal recessive juvenile or early-onset, levodopa-responsive parkinsonism. In addition to typical parkinsonian signs, clinical manifestations of Kufor-Rakeb syndrome include behavioral problems, facial tremor, pyramidal tract dysfunction, supranuclear gaze palsy, and dementia. {ECO:0000269 PubMed:16964263, ECO:0000269 PubMed:17485642, ECO:0000269 PubMed:18413573, ECO:0000269 PubMed:20683840, ECO:0000269 PubMed:20853184, ECO:0000269 PubMed:21542062}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ceroid lipofuscinosis, neuronal, 12 (CLN12) [MIM:606693]: A form of neuronal ceroid lipofuscinosis characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material. {ECO:0000269 PubMed:22388936}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for ATP13A2 Gene

Relevant External Links for ATP13A2

Genetic Association Database (GAD)
ATP13A2
Human Genome Epidemiology (HuGE) Navigator
ATP13A2
genes like me logo Genes that share disorders with ATP13A2: view

Publications for ATP13A2 Gene

  1. Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. (PMID: 16964263) Ramirez A. … Kubisch C. (Nat. Genet. 2006) 2 3 4
  2. ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. (PMID: 17485642) Di Fonzo A. … Bonifati V. (Neurology 2007) 3 4 48
  3. Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore. (PMID: 19015489) Lin C.H. … Wu R.M. (Neurology 2008) 3 4 48
  4. ATP13A2 variability in Parkinson disease. (PMID: 19085912) Vilarino-Guell C. … Farrer M.J. (Hum. Mutat. 2009) 3 4 48
  5. Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease. (PMID: 19097176) Rakovic A. … Ramirez A. (Mov. Disord. 2009) 3 48

Products for ATP13A2 Gene

Sources for ATP13A2 Gene

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