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Atp13a2 Gene Detail
Summary
  • Symbol
    Atp13a2
  • Name
    ATPase type 13A2
  • Synonyms
    1110012E06Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1922022
    NCBI Gene: 74772
  • Gene Overview
    MyGene.info: ATP13A2
Location & Maps
more
  • Sequence Map
    Chr4:140986873-141007330 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      20458 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 73.29 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    ATP13A2, ATPase 13A2
  • Vertebrate Orthologs
    8
  • Human Ortholog
    ATP13A2, ATPase 13A2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CLN12, HSA9947, KRPPD, PARK9
  • Links
    NCBI Gene ID: 23400
    neXtProt AC: NX_Q9NQ11

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

Human Diseases
more
  • Diseases
    1 with Atp13a2 mouse models; 1 with human ATP13A2 associations

Human Disease Mouse Models
       Kufor-Rakeb Syndrome; KRS   OMIM: 606693 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    19 phenotypes from 2 alleles in 2 genetic backgrounds
    2 phenotypes from multigenic genotypes
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    10
  • Chemically induced (other)
    2
  • Gene trapped
    1
  • Targeted
    7
  • Genomic Mutations
    3 involving Atp13a2
  • Incidental Mutations
Mice homozygous for a knock-out allele exhibit neuronal ceroid lipofuscinosis, synuclein accumulation and age-dependent sensorimotor deficits.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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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 sequence
Polymorphisms
less
  • SNPs within 2kb
    163 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 132
    cDNA 131
    Primer pair 1

    Microarray probesets 8
Other
Accession IDs
less
MGI:2140166
References
more
  • Summaries
    All 36
    Developmental Gene Expression 2
    Diseases 1
    Gene Ontology 7
    Phenotypes 11
  • 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:221680 Kett LR, et al., alpha-Synuclein-independent histopathological and motor deficits in mice lacking the endolysosomal Parkinsonism protein Atp13a2. J Neurosci. 2015 Apr 8;35(14):5724-42

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory