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Atp2a2 Gene Detail
Summary
  • Symbol
    Atp2a2
  • Name
    ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
  • Synonyms
    9530097L16Rik, D5Wsu150e, sarco/endoplasmic reticulum Ca2+-ATPase 2, SERCA2, Serca2a, SERCA2B
  • Feature Type
    protein coding gene
  • IDs
    MGI:88110
    NCBI Gene: 11938
Location & Maps
more
  • Sequence Map
    Chr5:122453513-122502225 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      48713 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 62.38 cM, cytoband F
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    ATP2A2, ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ATP2A2, ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ATP2B, DAR, DD, SERCA2
  • Links
    NCBI Gene ID: 488
    neXtProt AC: NX_P16615

  • Chr Location
    12q24.11; chr12:110281227-110351093 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Atp2a2 mouse models; 2 with human ATP2A2 associations

Human Disease Mouse Models
       Darier-White Disease; DAR   OMIM: 124200 View 1 model
       Acrokeratosis Verruciformis; AKV   OMIM: 101900
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
    72 phenotypes from 5 alleles in 8 genetic backgrounds
    13 phenotypes from multigenic genotypes
    3 images
    59 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
    59
  • Chemically induced (other)
    1
  • Gene trapped
    49
  • Radiation induced
    1
  • Targeted
    7
  • Transgenic
    1
  • Genomic Mutations
    2 involving Atp2a2
  • Incidental Mutations
Targeted homozygous mutants are embryonic lethal while heterozygotes show reduced blood pressure and mildly impaired cardiac contractility and relaxation. Aged heterozygotes for one targeted mutation develop squamous cell tumors of the forestomach, esophagus, oral mucosa, tongue, and skin.
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 OTTMUSG00000054516 VEGA Gene Model | MGI Sequence Detail 48713 C57BL/6J ±  kb
transcript OTTMUST00000135161 VEGA | MGI Sequence Detail 5674 Not Applicable  
polypeptide OTTMUSP00000071574 VEGA | MGI Sequence Detail 1044 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    31 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 30
    Genomic 2
    cDNA 23
    Primer pair 3
    Other 2

    Microarray probesets 8
Other
Accession IDs
less
MGD-MRK-1463, MGD-MRK-35783, MGI:107317, MGI:2441754
References
more
  • Summaries
    All 166
    Developmental Gene Expression 47
    Diseases 1
    Gene Ontology 26
    Phenotypes 59
  • Earliest
    J:35717 Hawkins C, et al., Sarcoplasmic reticulum calcium pump in cardiac and slow twitch skeletal muscle but not fast twitch skeletal muscle undergoes phosphorylation by endogenous and exogenous Ca2+/calmodulin-dependent protein kinase. Characterization of optimal conditions foralcium pump phosphorylation. J Biol Chem. 1994 Dec 9;269(49):31198-206
  • Latest
    J:234490 Davis J, et al., A Tension-Based Model Distinguishes Hypertrophic versus Dilated Cardiomyopathy. Cell. 2016 May 19;165(5):1147-59

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
11/29/2016
MGI 6.06
The Jackson Laboratory