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Atp13a2
Gene Detail
Symbol

Name
ID
Atp13a2
ATPase type 13A2
MGI:1922022
Synonyms
1110012E06Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 4
73.29 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr4:140986873-141007330 bp, + strand
From VEGA annotation of GRCm38

  20458 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:56940  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

HCOP human homology predictions: ATP13A2
Gene Tree: Atp13a2

Human
homologs
ATP13A2, ATPase type 13A2
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 23400
neXtProt AC: NX_Q9NQ11

Human Synonyms: CLN12, HSA9947, KRPPD, PARK9

Human Chr (Location): 1p36; chr1:16985958-17011972 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human ATP13A2

Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Gene trapped(1) Targeted(6)
Genomic Mutations involving Atp13a2 (1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for a knock-out allele exhibit neuronal ceroid lipofuscinosis, synuclein accumulation and age-dependent sensorimotor deficits.
 
Interactions
Atp13a2 interacts with 74 markers (Mir15a, Mir15b, Mir16-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (13 annotations)
Process cation transport
Component integral component of membrane, lysosomal membrane, ...
Function ATPase activity, ATP binding, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (54)    Tissues (11)    Images (18)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 54
cDNA source data(131)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: ZFIN atp13a2    NEW 
Molecular
reagents
All nucleic(132) cDNA(131) Primer pair(1)
Microarray probesets(8)
Other database
links
VEGA Gene Model OTTMUSG00000010089 (Evidence)
Ensembl Gene Model ENSMUSG00000036622 (Evidence)
Entrez Gene 74772 (Evidence)
UniGene 205625
DFCI TC1572463, TC1682354, TC1642465, TC1594531
DoTS DT.97358759, DT.101723823, DT.101394758, DT.101394743, DT.97369392
NIA Mouse Gene Index U020750
EC 3.6.3.-
Consensus CDS Project CCDS18859.1, CCDS51345.1
International Mouse Phenotyping Consortium Status Atp13a2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000010089 VEGA Gene Model | MGI Sequence Detail 20458 C57BL/6J ±  kb
transcript OTTMUST00000023462 VEGA | MGI Sequence Detail 3956 Not Applicable 
polypeptide OTTMUSP00000010718 VEGA | MGI Sequence Detail 1169 Not Applicable 

For the selected sequences
All sequences(99) RefSeq(14) UniProt(4)
Polymorphisms
SNPs within 2kb(164 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001757 Cation-transporting P-type ATPase
InterPro IPR004014 Cation-transporting P-type ATPase, N-terminal
InterPro IPR006544 Cation-transporting P-type ATPase, subfamily V
InterPro IPR023214 HAD-like domain
InterPro IPR008250 P-type ATPase, A domain
InterPro IPR023299 P-type ATPase, cytoplasmic domain N
InterPro IPR018303 P-type ATPase, phosphorylation site
Protein Ontology PR:000031171 cation-transporting ATPase 13A2
References
(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:194306 Schultheis PJ, et al., Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited alpha-synuclein accumulation and age-dependent sensorimotor deficits. Hum Mol Genet. 2013 Feb 26;
All references(35)
Other
accession IDs
MGI:2140166

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory