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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
  • Gene Overview
    MyGene.info: ATP2B2
Location & Maps
more
  • Sequence Map
    Chr6:113743831-114042613 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      298783 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 52.85 cM
  • Mapping Data
    23 experiments
Homology
more
  • Human Ortholog
    ATP2B2, ATPase plasma membrane Ca2+ transporting 2
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ATP2B2, ATPase plasma membrane Ca2+ transporting 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    PMCA2, PMCA2a, PMCA2i
  • Links
    NCBI Gene ID: 491
    neXtProt AC: NX_Q01814

  • Chr Location
    3p25.3; chr3:10324023-10707993 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human ATP2B2 associations

Human Disease Mouse Models
       Deafness, Autosomal Recessive 12; DFNB12   OMIM: 601386
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    83 phenotypes from 13 alleles in 19 genetic backgrounds
    21 phenotypes from multigenic genotypes
    4 images
    58 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
    20
  • Chemically induced (ENU)
    7
  • Gene trapped
    2
  • Spontaneous
    8
  • Targeted
    3
  • Genomic Mutations
    1 involving Atp2b2
  • Incidental Mutations
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
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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
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018967 VEGA Gene Model | MGI Sequence Detail 298783 C57BL/6J ±  kb
transcript OTTMUST00000045567 VEGA | MGI Sequence Detail 4586 Not Applicable  
polypeptide OTTMUSP00000020493 VEGA | MGI Sequence Detail 1243 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    2272 from dbSNP Build 142
Protein
Information
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  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000004446 plasma membrane calcium-transporting ATPase 2
  • EC
  • InterPro Domains
    IPR006068 Cation-transporting P-type ATPase, C-terminal
    IPR004014 Cation-transporting P-type ATPase, N-terminal
    IPR023214 HAD-like domain
    IPR022141 Plasma membrane calcium transporting P-type ATPase, C-terminal
    IPR001757 P-type ATPase
    IPR008250 P-type ATPase, A domain
    IPR023299 P-type ATPase, cytoplasmic domain N
    IPR018303 P-type ATPase, phosphorylation site
    IPR006408 P-type ATPase, subfamily IIB
    IPR023298 P-type ATPase, transmembrane domain
Molecular
Reagents
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  • All nucleic 22
    Genomic 9
    cDNA 11
    Primer pair 2

    Microarray probesets 5
Other
Accession IDs
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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 99
    Developmental Gene Expression 7
    Gene Ontology 26
    Phenotypes 58
  • Earliest
    J:14114 Lane PW, Deaf waddler (dfw). Mouse News Lett. 1987;77:129
  • Latest
    J:229944 Jeong J, et al., PMCA2 regulates HER2 protein kinase localization and signaling and promotes HER2-mediated breast cancer. Proc Natl Acad Sci U S A. 2016 Jan 19;113(3):E282-90

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory