ENSG00000067842


Homo sapiens

Features
Gene ID: ENSG00000067842
  
Biological name :ATP2B3
  
Synonyms : ATP2B3 / ATPase plasma membrane Ca2+ transporting 3 / Q16720
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: q28
Gene start: 153517676
Gene end: 153582939
  
Corresponding Affymetrix probe sets: 207026_s_at (Human Genome U133 Plus 2.0 Array)   215911_x_at (Human Genome U133 Plus 2.0 Array)   216312_at (Human Genome U133 Plus 2.0 Array)   242036_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000343886
Ensembl peptide - ENSP00000263519
Ensembl peptide - ENSP00000359205
Ensembl peptide - ENSP00000377425
Ensembl peptide - ENSP00000352062
NCBI entrez gene - 492     See in Manteia.
OMIM - 300014
RefSeq - XM_017029553
RefSeq - NM_001001344
RefSeq - NM_021949
RefSeq - XM_005274692
RefSeq - XM_011531174
RefSeq - XM_011531177
RefSeq - XM_005274689
RefSeq - XM_005274690
RefSeq - XM_005274691
RefSeq Peptide - NP_068768
RefSeq Peptide - NP_001001344
swissprot - Q16720
Ensembl - ENSG00000067842
  
Related genetic diseases (OMIM): 302500 - ?Spinocerebellar ataxia, X-linked 1, 302500
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 atp2b3aENSDARG00000043474Danio rerio
 atp2b3bENSDARG00000023445Danio rerio
 Atp2b3ENSMUSG00000031376Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ATP2B2 / Q01814 / ATPase plasma membrane Ca2+ transporting 2ENSG0000015708784
ATP2B1 / P20020 / ATPase plasma membrane Ca2+ transporting 1ENSG0000007096181
ATP2B4 / P23634 / ATPase plasma membrane Ca2+ transporting 4ENSG0000005866875


Protein motifs (from Interpro)
Interpro ID Name
 IPR001757  P-type ATPase
 IPR004014  Cation-transporting P-type ATPase, N-terminal
 IPR006068  Cation-transporting P-type ATPase, C-terminal
 IPR006408  P-type ATPase, subfamily IIB
 IPR008250  P-type ATPase, A domain superfamily
 IPR018303  P-type ATPase, phosphorylation site
 IPR022141  Plasma membrane calcium transporting P-type ATPase, C-terminal
 IPR023298  P-type ATPase, transmembrane domain superfamily
 IPR023299  P-type ATPase, cytoplasmic domain N
 IPR030325  Plasma membrane calcium-transporting ATPase 3
 IPR036412  HAD-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006816 calcium ion transport IEA
 biological_processGO:0034220 ion transmembrane transport TAS
 biological_processGO:0051480 regulation of cytosolic calcium ion concentration IDA
 biological_processGO:0070588 calcium ion transmembrane transport IEA
 biological_processGO:0099132 ATP hydrolysis coupled cation transmembrane transport IEA
 biological_processGO:1903779 regulation of cardiac conduction TAS
 biological_processGO:1990034 calcium ion export across plasma membrane IDA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IBA
 cellular_componentGO:1903561 extracellular vesicle HDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0005388 calcium-transporting ATPase activity IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005516 calmodulin binding IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0015085 calcium ion transmembrane transporter activity IDA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0030165 PDZ domain binding IBA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Reduction of cytosolic Ca++ levels
Ion homeostasis
Ion transport by P-type ATPases


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
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 HP:0001152 Saccadic smooth pursuit 
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 HP:0001270 Motor retardation 
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 HP:0001320 Cerebellar vermis hypoplasia 
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 HP:0001321 Cerebellar hypoplasia 
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 HP:0002078 Truncal ataxia 
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 HP:0002080 Intention tremor "An oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient s nose or a physician s finger)." [HPO:curators]
Show

 HP:0002312 Clumsiness 
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 HP:0002317 Unsteady gait 
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 HP:0002359 Frequent falls 
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 HP:0002464 Spastic dysarthria 
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 HP:0002470 Cerebellar ataxia, nonprogressive 
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 HP:0008935 Hypotonia, neonatal, generalized 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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