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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
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:140714184-140734641 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 73.29 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    573 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1922022
 protein coding gene Chr4:140711812-140734641 (+)
129S1/SvImJ MGP_129S1SvImJ_G0029034
 protein coding gene Chr4:143978492-143998749 (+)
A/J MGP_AJ_G0028993
 protein coding gene Chr4:137746679-137768281 (+)
AKR/J MGP_AKRJ_G0028945
 protein coding gene Chr4:141718188-141738649 (+)
BALB/cJ MGP_BALBcJ_G0029017
 protein coding gene Chr4:138433888-138456064 (+)
C3H/HeJ MGP_C3HHeJ_G0028731
 protein coding gene Chr4:142101153-142122714 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029458
 protein coding gene Chr4:149034623-149057084 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026729
 protein coding gene Chr4:130662014-130682171 (+)
CAST/EiJ MGP_CASTEiJ_G0028163
 protein coding gene Chr4:140353931-140374234 (+)
CBA/J MGP_CBAJ_G0028695
 protein coding gene Chr4:153319331-153343520 (+)
DBA/2J MGP_DBA2J_G0028845
 protein coding gene Chr4:138140185-138161227 (+)
FVB/NJ MGP_FVBNJ_G0028812
 protein coding gene Chr4:137241318-137263419 (+)
LP/J MGP_LPJ_G0028944
 protein coding gene Chr4:144011777-144032028 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028838
 protein coding gene Chr4:157187450-157209034 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029496
 protein coding gene Chr4:142242340-142262591 (+)
PWK/PhJ MGP_PWKPhJ_G0027884
 protein coding gene Chr4:135023372-135044467 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027709
 protein coding gene Chr4:138069223-138093318 (+)
WSB/EiJ MGP_WSBEiJ_G0028241
 protein coding gene Chr4:142526061-142546326 (+)



Homology
more
  • Human Ortholog
    ATP13A2, ATPase cation transporting 13A2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ATP13A2, ATPase cation transporting 13A2
  • Synonyms
    CLN12, HSA9947, KRPPD, PARK9, SPG78
  • Links
    NCBI Gene ID: 23400
    neXtProt AC: NX_Q9NQ11
    UniProt: Q9NQ11

  • Chr Location
    1p36.13; chr1:16985958-17011928 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Atp13a2 mouse models; 3 with human ATP13A2 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
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
less
  • Phenotype Summary
    19 phenotypes from 2 alleles in 2 genetic backgrounds
    2 phenotypes from multigenic genotypes
    23 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.
Mice homozygous for a knock-out allele exhibit neuronal ceroid lipofuscinosis, synuclein accumulation and age-dependent sensorimotor deficits.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    91
  • GO References
    16
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1081
  • Tissues
    56
  • cDNA Data
    132
  • Literature Summary
    3
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000036622 Ensembl Gene Model | MGI Sequence Detail 20458 C57BL/6J ±  kb
transcript ENSMUST00000037055 Ensembl | MGI Sequence Detail 3956 Not Applicable  
polypeptide ENSMUSP00000039648 Ensembl | MGI Sequence Detail 1169 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 133
    cDNA 132
    Primer pair 1

    Microarray probesets 8
Other
Accession IDs
less
MGI:2140166
References
more
  • Summaries
    All 62
    Developmental Gene Expression 3
    Diseases 1
    Gene Ontology 16
    Phenotypes 23
  • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory