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Atp12a Gene Detail
Summary
  • Symbol
    Atp12a
  • Name
    ATPase, H+/K+ transporting, nongastric, alpha polypeptide
  • Synonyms
    Atp1al1, ATPase H+K+-transporting, alpha 2, cHKA, HKalpha2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1926943
    NCBI Gene: 192113
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:56602525-56626007 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 28.19 cM, cytoband C3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    792 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1926943
 protein coding gene Chr14:56602525-56626008 (+)
129S1/SvImJ MGP_129S1SvImJ_G0021392
 protein coding gene Chr14:50451070-50474540 (+)
A/J MGP_AJ_G0021351
 protein coding gene Chr14:49447984-49471744 (+)
AKR/J MGP_AKRJ_G0021327
 protein coding gene Chr14:51233032-51256983 (+)
BALB/cJ MGP_BALBcJ_G0021354
 protein coding gene Chr14:49439340-49462804 (+)
C3H/HeJ MGP_C3HHeJ_G0021135
 protein coding gene Chr14:50887653-50911122 (+)
C57BL/6NJ MGP_C57BL6NJ_G0021794
 protein coding gene Chr14:52967644-52991113 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0019336
 protein coding gene Chr14:47620629-47644109 (+)
CAST/EiJ MGP_CASTEiJ_G0020654
 protein coding gene Chr14:47199448-47223693 (+)
CBA/J MGP_CBAJ_G0021102
 protein coding gene Chr14:54529811-54555454 (+)
DBA/2J MGP_DBA2J_G0021222
 protein coding gene Chr14:49170913-49194385 (+)
FVB/NJ MGP_FVBNJ_G0021205
 protein coding gene Chr14:48564524-48587994 (+)
LP/J MGP_LPJ_G0021297
 protein coding gene Chr14:51512230-51536048 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0021229
 protein coding gene Chr14:53931681-53960848 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021820
 protein coding gene Chr14:50364088-50391391 (+)
PWK/PhJ MGP_PWKPhJ_G0020397
 protein coding gene Chr14:45681476-45705461 (+)
SPRET/EiJ MGP_SPRETEiJ_G0020227
 protein coding gene Chr14:46447834-46471590 (+)
WSB/EiJ MGP_WSBEiJ_G0020706
 protein coding gene Chr14:50699778-50723282 (+)



Homology
more
  • Human Ortholog
    ATP12A, ATPase H+/K+ transporting non-gastric alpha2 subunit
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ATP12A, ATPase H+/K+ transporting non-gastric alpha2 subunit
  • Synonyms
    ATP1AL1, HK, H-K-ATPase
  • Links
    NCBI Gene ID: 479
    neXtProt AC: NX_P54707
    UniProt: P54707

  • Chr Location
    13q12.12; chr13:24680408-24712472 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    18 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.
Homozygous mutation of this gene results in increased potassium excretion. When placed on a potassium-free diet, mutant animals display greater weight loss and slightly increased kidney weight compared to wild-type.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    34
  • GO References
    11
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
non-membrane-bounded 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
    841
  • Tissues
    110
  • cDNA Data
    6
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000022229 Ensembl Gene Model | MGI Sequence Detail 23483 C57BL/6J ±  kb
    transcript ENSMUST00000007340 Ensembl | MGI Sequence Detail 3950 Not Applicable  
    polypeptide ENSMUSP00000007340 Ensembl | MGI Sequence Detail 1035 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 14
      Genomic 7
      cDNA 6
      Primer pair 1

      Microarray probesets 2
    References
    more
    • Summaries
      All 49
      Developmental Gene Expression 3
      Gene Ontology 11
      Phenotypes 18
    • Earliest
      J:75632 Ono S, et al., Role of H(+)-K(+)-ATPase in pHi regulation in inner medullary collecting duct cells in culture. Am J Physiol. 1996 May;270(5 Pt 2):F852-61
    • 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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    10/29/2024
    MGI 6.24     		The Jackson Laboratory