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Atp2b2 Gene Detail
Summary
  • Symbol
    Atp2b2
  • Name
    ATPase, Ca++ transporting, plasma membrane 2
  • Synonyms
    D6Abb2e, Gena300, jog, PMCA2, Tmy, wms
  • Feature Type
    protein coding gene
  • IDs
    MGI:105368
    NCBI Gene: 11941
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:113720803-114019574 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 52.85 cM
  • Mapping Data
    24 experiments
Strain
Comparison
more
  • SNPs within 2kb
    8171 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_105368
 protein coding gene Chr6:113720792-114019574 (-)
129S1/SvImJ MGP_129S1SvImJ_G0031138
 protein coding gene Chr6:116290046-116603150 (-)
A/J MGP_AJ_G0031107
 protein coding gene Chr6:111824024-112125149 (-)
AKR/J MGP_AKRJ_G0031038
 protein coding gene Chr6:114830095-115142365 (-)
BALB/cJ MGP_BALBcJ_G0031118
 protein coding gene Chr6:111769399-112072626 (-)
C3H/HeJ MGP_C3HHeJ_G0030590
 protein coding gene Chr6:69157301-69463367 (+)
C57BL/6NJ MGP_C57BL6NJ_G0031577
 protein coding gene Chr6:119288577-119598194 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028741
 protein coding gene Chr6:108851636-109155887 (-)
CAST/EiJ MGP_CASTEiJ_G0030225
 protein coding gene Chr6:115289203-115606713 (-)
CBA/J MGP_CBAJ_G0030804
 protein coding gene Chr6:124010696-124349058 (-)
DBA/2J MGP_DBA2J_G0030957
 protein coding gene Chr6:110905092-111204595 (-)
FVB/NJ MGP_FVBNJ_G0030911
 protein coding gene Chr6:109909236-110215627 (-)
LP/J MGP_LPJ_G0031037
 protein coding gene Chr6:116314011-116620748 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0030945
 protein coding gene Chr6:128243816-128555323 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0031604
 protein coding gene Chr6:114855486-115167654 (-)
PWK/PhJ MGP_PWKPhJ_G0029941
 protein coding gene Chr6:109867293-110173109 (-)
SPRET/EiJ MGP_SPRETEiJ_G0029769
 protein coding gene Chr6:113658918-113968193 (-)
WSB/EiJ MGP_WSBEiJ_G0030309
 protein coding gene Chr6:115225533-115534077 (-)



Homology
more
  • Human Ortholog
    ATP2B2, ATPase plasma membrane Ca2+ transporting 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ATP2B2, ATPase plasma membrane Ca2+ transporting 2
  • Synonyms
    DFNA82, PMCA2, PMCA2a, PMCA2i
  • Links
    NCBI Gene ID: 491
    neXtProt AC: NX_Q01814
    UniProt: Q01814

  • Chr Location
    3p25.3; chr3:10324023-10708007 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human ATP2B2 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    85 phenotypes from 14 alleles in 20 genetic backgrounds
    21 phenotypes from multigenic genotypes
    4 images
    68 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 mutants exhibit slower growth, balance problems, and deafness, associated with cerebellar abnormalities, an absence of otoconia, and abnormalities of the organ of Corti. Heterozygotes exhibit appreciable age-dependent hearing loss.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    104
  • GO References
    28
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
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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
    900
  • Tissues
    129
  • cDNA Data
    10
  • Literature Summary
    15
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 11941 NCBI Gene Model | MGI Sequence Detail 298772 C57BL/6J ±  kb
    transcript NR_176856 RefSeq | MGI Sequence Detail 9219 ZRU/MplStud  
    polypeptide Q9R0K7 UniProt | EBI | MGI Sequence Detail 1198 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      8 Sequences
    • Protein Ontology
      PR:000004446 plasma membrane calcium-transporting ATPase 2
      (term hierarchy)
    • EC
      7.2.2.10
    • InterPro Domains
      IPR006068 Cation-transporting P-type ATPase, C-terminal
      IPR004014 Cation-transporting P-type ATPase, N-terminal
      IPR036412 HAD-like superfamily
      IPR023214 HAD superfamily
      IPR022141 Plasma membrane calcium transporting P-type ATPase, C-terminal
      IPR001757 P-type ATPase
      IPR008250 P-type ATPase, A domain superfamily
      IPR023299 P-type ATPase, cytoplasmic domain N
      IPR044492 P-type ATPase, haloacid dehalogenase domain
      IPR018303 P-type ATPase, phosphorylation site
      IPR006408 P-type ATPase, subfamily IIB
      IPR023298 P-type ATPase, transmembrane domain superfamily
    • GlyGen
      Q9R0K7 6 sites, 4 N-linked glycans (4 sites), 1 O-linked glycan (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 28
      Genomic 9
      cDNA 13
      Primer pair 6

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-15437, MGD-MRK-15460, MGD-MRK-32111, MGD-MRK-33037, MGD-MRK-8835, MGI:2158365, MGI:3664090, MGI:5490332, MGI:94888, MGI:98965
    References
    more
    • Summaries
      All 125
      Developmental Gene Expression 15
      Gene Ontology 28
      Phenotypes 68
    • Earliest
      J:19948 Matsui K, et al., [Fundamental study on ataxic mice (wriggle mouse Sagami)]. Jikken Dobutsu. 1987 Apr;36(2):185-9
    • 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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    Send questions and comments to User Support.     		last database update
    11/05/2024
    MGI 6.24     		The Jackson Laboratory