Gene

Atp2b2

Species
Mus musculus
Symbol
Atp2b2
Name
ATPase, Ca++ transporting, plasma membrane 2
Synonyms
  • D6Abb2e
  • deaf waddler
Biotype
protein coding gene
Automated Description
Enables calcium-dependent ATPase activity. Involved in calcium ion transport; cochlea development; and regulation of cytosolic calcium ion concentration. Acts upstream of or within several processes, including detection of mechanical stimulus involved in sensory perception of sound; lactation; and neuron differentiation. Located in several cellular components, including apical plasma membrane; endoplasmic reticulum; and neuronal cell body. Is active in glutamatergic synapse; photoreceptor ribbon synapse; and presynaptic membrane. Is expressed in heart; labyrinthine zone; liver; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 82 and autosomal recessive nonsyndromic deafness 12. Orthologous to human ATP2B2 (ATPase plasma membrane Ca2+ transporting 2).
MGI Description
PHENOTYPE: 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. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR24093
Stringency:
Additional filters to further constrain the results:
Species Gene symbol Count Best Best reverse
Method
Ensembl ComparaHGNCHieranoidInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidXenbaseZFIN
Homo sapiensATP2B210 of 10YesYes  
Rattus norvegicusAtp2b29 of 9YesYes   
Xenopus tropicalisatp2b26 of 9YesYes   
Danio rerioatp2b210 of 10YesYes  
Drosophila melanogasterPMCA7 of 9YesNo   
Caenorhabditis elegansmca-38 of 9YesYes   
Caenorhabditis elegansmca-25 of 9NoYes   
Saccharomyces cerevisiaePMC16 of 9YesYes   
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Gene symbolRank Alignment Length (aa) Similarity %Identity %Method Count
Method
Ensembl ComparaHGNCInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidSGD
Atp2b31128189818 of 9 
Atp2b12127888808 of 9 
Atp2b43129180698 of 9 
Atp1a34117643272 of 9 
Atp1a15121341262 of 9 
Atp2a26116943262 of 9 
Atp4a7119443252 of 9 
Atp12a8118342262 of 9 
Atp2a19111443282 of 9 
Atp2c210116740262 of 9 
Atp2a311112142272 of 9 
Atp1a212111742272 of 9 
Atp2c11398544262 of 9 
Atp1a41497042272 of 9 
Atp13a415119434192 of 9 
Atp13a316111836202 of 9 
Atp13a517112934202 of 9 
Atp13a118108535212 of 9 
Atp13a219109236202 of 9 

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources
Phenotype Term
Annotation details
References
abnormal auditory brainstem response
abnormal auditory brainstem response waveform shape
abnormal auditory cortex morphology
abnormal calcium ion homeostasis
abnormal cell death
abnormal cerebellar granule cell morphology
abnormal cerebellum morphology
abnormal cerebral cortex morphology
abnormal cochlear ganglion morphology
abnormal cochlear hair cell physiology
Showing 1 - 10 of 83 rows
per page

Disease Associations

Cases where the expected disease association was NOT found
Must provide at least one subject
Cell color indicative of annotation volume

Alleles and Variants

No mapped variant information available
Allele/Variant Symbol
Allele Synonyms
Category
Variant
Variant type
Molecular consequence
Has Disease Annotations
Has Phenotype Annotations
Atp2b2liloallele
Atp2b2jogallele
Yes
Atp2b2tm1Ges
  • Pmca2 -
allele
Yes
Atp2b2dfw-3Jallele
Yes
Atp2b2em1Smocallele
Atp2b2em2Gpt
  • Atp2b2em1Cin(S877F)
allele
Atp2b2em1Gpt
  • Atp2b2em1Cflox
allele
Atp2b2em10Gpt
  • Atp2b2em10Cd28881in7
allele
Atp2b2Tkhallele
Atp2b2Elfinallele with one associated variant
point mutation
  • missense variant
Yes
Showing 1 - 10 of 8,474 rows
per page

Transgenic Alleles

No data available

Models

Model name
Experimental condition
Associated Human Diseases
Associated Phenotypes
Modifier
Source
Atp2b2Deaf11/Atp2b2+ [background:] BALB/c-Atp2b2Deaf11
  • decreased startle reflex
  • impaired hearing
MGI
Atp2b2Deaf11/Atp2b2Deaf11 [background:] BALB/c-Atp2b2Deaf11
  • cochlear hair cell degeneration
  • decreased startle reflex
MGI
Atp2b2Deaf11/Atp2b2Deaf13 [background:] BALB/c-Atp2b2Deaf11/Atp2b2Deaf13
  • impaired hearing
  • increased or absent threshold for auditory brainstem response
MGI
Atp2b2Deaf13/Atp2b2+ [background:] BALB/c-Atp2b2Deaf13
  • decreased startle reflex
  • impaired hearing
MGI
Atp2b2Deaf13/Atp2b2Deaf13 [background:] BALB/c-Atp2b2Deaf13
  • cochlear hair cell degeneration
  • decreased startle reflex
MGI
Atp2b2dfw-2J/Atp2b2+ [background:] CByJ.A-Atp2b2dfw-2J/J
  • deafness
  • increased or absent threshold for auditory brainstem response
MGI
Atp2b2dfw-2J/Atp2b2+ Cdh23ahl/Cdh23ahl [background:] involves: BALB/cByJ * MOLF
  • deafness
  • increased or absent threshold for auditory brainstem response
MGI
Atp2b2dfw-2J/Atp2b2+ Cdh23ahl/Cdh23ahl [background:] involves: CAST/Ei * BALB/cByJ
  • deafness
  • increased or absent threshold for auditory brainstem response
MGI
Atp2b2dfw-2J/Atp2b2dfw-2J [background:] CBA.Cg-Atp2b2dfw-2J
  • impaired swimming
MGI
Atp2b2dfw-2J/Atp2b2dfw-2J [background:] CByJ.A-Atp2b2dfw-2J/J
  • abnormal gait
  • abnormal reflex
MGI
Showing 1 - 10 of 35 rows
per page

Sequence Feature Viewer

Genome location
Assembly version
GRCm39
Viewer Help
113.75M113.80M113.85M113.90M113.95M114.00M

Sequence Details

Loading...

Expression

Primary Sources
Other Sources
Must provide at least one subject
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

14 interactor genes based on 16 annotations
Atp2b2 molecule type
Interactor gene
Interactor species
Interactor molecule type
Detection methods
Source
Reference
protein
AppMus musculus
protein
  • affinity chromatography technology
PMID:17934213
protein
Atp2b4Mus musculus
protein
  • biochemical
PMID:32325033
protein
Dlg1Mus musculus
protein
  • biochemical
PMID:32325033
protein
Dlg4Mus musculus
protein
  • biochemical
PMID:32325033
protein
HttMus musculus
protein
  • affinity chromatography technology
PMID:22794259
protein
HttMus musculus
protein
  • affinity chromatography technology
PMID:22794259
protein
Kctd13Mus musculus
protein
  • affinity chromatography technology
PMID:37142655
protein
Nherf2Mus musculus
protein
  • biochemical
PMID:32325033
protein
Ppp1r9bMus musculus
protein
  • affinity chromatography technology
PMID:30562941
protein
Ppp1r9bMus musculus
protein
  • affinity chromatography technology
PMID:28634551
Showing 1 - 10 of 16 rows
per page

Genetic Interactions

No data available