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ATP13A2 Gene(Protein Coding)

ATPase 13A2

GCID:
GC01M016985
GIFtS:
63
Genes Participants
UDN Logo

Aliases for ATP13A2 Gene

Aliases for ATP13A2 Gene

  • ATPase 13A2 2 3
  • ATPase Type 13A2 2 3 5
  • PARK9 3 4
  • Parkinson Disease (Autosomal Recessive) 9 (Kufor-Rakeb Syndrome) 2
  • EC 3.6.3.5 63
  • EC 3.6.3.8 63
  • EC 3.6.3.- 4
  • EC 3.6.3 63
  • HSA9947 3
  • CLN12 3
  • KRPPD 3

External Ids for ATP13A2 Gene

Previous HGNC Symbols for ATP13A2 Gene

  • PARK9

Previous GeneCards Identifiers for ATP13A2 Gene

  • GC01M017058
  • GC01M017185
  • GC01M017312
  • GC01M015556

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 13A2) is a Protein Coding gene. Diseases associated with ATP13A2 include Kufor-Rakeb Syndrome and Cln12 Disease. Among its related pathways are Neuroscience and Ion channel transport. GO annotations related to this gene include nucleotide binding and 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

Products:

  1. Regulatory Element

Regulatory Elements for ATP13A2 Gene

Enhancers for ATP13A2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ATP13A2 on UCSC Golden Path with GeneCards custom track

Promoters for ATP13A2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATP13A2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the ATP13A2 gene promoter:

Genomic Location for ATP13A2 Gene

Chromosome:
1
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

Genes around ATP13A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP13A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP13A2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ATP13A2 Gene

Proteins for ATP13A2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for ATP13A2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ATP13A2 Gene

Q9NQ11:

Post-translational modifications for ATP13A2 Gene

  • Ubiquitination at Lys 68, Lys 143, Lys 693, Lys 835, Lys 843, and Lys 859
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP13A2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ATP13A2 (ATP13A2)
  • Santa Cruz Biotechnology (SCBT) Antibodies for ATP13A2

Domains & Families for ATP13A2 Gene

Gene Families for ATP13A2 Gene

HGNC:

Protein Domains for ATP13A2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ATP13A2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NQ11

UniProtKB/Swiss-Prot:

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

Function for ATP13A2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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:0005515 protein binding IPI 22645275
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ATP13A2: view

Phenotypes for ATP13A2 Gene

MGI mutant phenotypes for ATP13A2:
inferred from 2 alleles
GenomeRNAi human phenotypes for ATP13A2:
genes like me logo Genes that share phenotypes with ATP13A2: view

Human Phenotype Ontology for ATP13A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATP13A2 Gene

MGI Knock Outs for ATP13A2:

Animal Model Products

CRISPR Products

miRNA for ATP13A2 Gene

miRTarBase miRNAs that target ATP13A2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets 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
endosome 5
lysosome 5
plasma membrane 5
vacuole 5
mitochondrion 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ATP13A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0012506 vesicle membrane IEA --
GO:0043005 neuron projection IDA 22186024
GO:0043025 neuronal cell body IDA 22186024
GO:1905103 integral component of lysosomal membrane IDA 26134396
genes like me logo Genes that share ontologies with ATP13A2: view

Pathways & Interactions for ATP13A2 Gene

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:0006812 cation transport IEA --
GO:0006874 cellular calcium ion homeostasis IDA,IBA 22186024
GO:0050714 positive regulation of protein secretion IMP 25392495
GO:1990938 peptidyl-aspartic acid autophosphorylation IMP 26134396
genes like me logo Genes that share ontologies with ATP13A2: view

No data available for SIGNOR curated interactions for ATP13A2 Gene

Drugs & Compounds for ATP13A2 Gene

Products:

  1. Drug

(1) Drugs for ATP13A2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(3) Additional Compounds for ATP13A2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
 Full agonist, Agonist 58-64-0
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
 7664-38-2
Water
  • Dihydrogen oxide
  • Steam
 7732-18-5
genes like me logo Genes that share compounds with ATP13A2: view

Transcripts for ATP13A2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for ATP13A2 Gene

(13) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(154) Selected AceView cDNA sequences:
(15) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ATP13A2 Gene

ATPase type 13A2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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

Products:

  1. Primer

mRNA expression in normal human tissues for ATP13A2 Gene

mRNA expression in normal human tissues for ATP13A2 Gene
mRNA expression by BioGPS for ATP13A2 GenemRNA expression by GTEx for ATP13A2 Gene

Protein differential expression in normal tissues from HIPED for ATP13A2 Gene

This gene is overexpressed in Breast (54.4).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ATP13A2: view

Protein tissue co-expression partners for ATP13A2 Gene

Primer Products

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
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
chimpanzee
(Pan troglodytes)
 Mammalia ATP13A2 35
  • 98.95 (n)
  • 98.77 (a)
ATP13A2 36
  • 99 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Atp13a2 35
  • 84.83 (n)
  • 85.59 (a)
oppossum
(Monodelphis domestica)
 Mammalia ATP13A2 36
  • 61 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia ATP13A2 36
  • 49 (a)
 OneToOne
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

(3) 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
rs151117874 - 17,005,754(+) TGGGC(A/G)TGCTG reference, missense
rs56379718 - 17,005,517(-) TCATC(A/G)GCTAT reference, missense
rs56367069 - 17,000,272(-) CATGC(A/G)GGTGT reference, missense
rs56275621 - 16,997,049(-) GGGAC(C/T)GCACG reference, missense
rs121918227 Kufor-Rakeb syndrome (KRS) 16,996,008(-) ACCTG(C/G)GGGGC reference, missense

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

Variation tolerance for ATP13A2 Gene

Residual Variation Intolerance Score: 14.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.07; 50.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP13A2 Gene

Human Gene Mutation Database (HGMD)
ATP13A2

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

Disorders for ATP13A2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for ATP13A2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
kufor-rakeb syndrome
  • ceroid lipofuscinosis, neuronal, 12
cln12 disease
  • atp13a2-related neuronal ceroid-lipofuscinosis
parkinson disease 15, autosomal recessive
  • autosomal recessive early-onset parkinson disease 15
neuronal ceroid lipofuscinosis
  • neuronal ceroid-lipofuscinoses
neurodegeneration with brain iron accumulation disorders
  • hallervorden-spatz disease
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

AT132_HUMAN
  • 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.
  • 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.

Relevant External Links for ATP13A2

Genetic Association Database (GAD)
ATP13A2
Human Genome Epidemiology (HuGE) Navigator
ATP13A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP13A2
genes like me logo Genes that share disorders with ATP13A2: view

No data available for Genatlas for ATP13A2 Gene

Publications for ATP13A2 Gene

  1. ATP13A2 variability in Parkinson disease. (PMID: 19085912) Vilarino-Guell C. … Farrer M.J. (Hum. Mutat. 2009) 3 4 48 67
  2. 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
  3. Characterization of the P5 subfamily of P-type transport ATPases in mice. (PMID: 15381061) Schultheis P.J. … Shull G.E. (Biochem. Biophys. Res. Commun. 2004) 2 3
  4. Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. (PMID: 25429064) He M. … Qi L. (Hum. Mol. Genet. 2015) 3
  5. I+-Synuclein-independent histopathological and motor deficits in mice lacking the endolysosomal Parkinsonism protein Atp13a2. (PMID: 25855184) Kett L.R. … Dauer W.T. (J. Neurosci. 2015) 3

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