ENSG00000174437


Homo sapiens

Features
Gene ID: ENSG00000174437
  
Biological name :ATP2A2
  
Synonyms : ATP2A2 / ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 / P16615
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q24.11
Gene start: 110280756
Gene end: 110351093
  
Corresponding Affymetrix probe sets: 209186_at (Human Genome U133 Plus 2.0 Array)   212361_s_at (Human Genome U133 Plus 2.0 Array)   212362_at (Human Genome U133 Plus 2.0 Array)   239996_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000447406
Ensembl peptide - ENSP00000440045
Ensembl peptide - ENSP00000449454
Ensembl peptide - ENSP00000450407
Ensembl peptide - ENSP00000311186
Ensembl peptide - ENSP00000366913
NCBI entrez gene - 488     See in Manteia.
OMIM - 108740
RefSeq - XM_011538402
RefSeq - NM_001681
RefSeq - NM_170665
RefSeq - XM_005253888
RefSeq Peptide - NP_733765
RefSeq Peptide - NP_001672
swissprot - A0A0C4DH86
swissprot - A0A0S2Z3L2
swissprot - F8W1Z7
swissprot - J3QSY6
swissprot - H7C5W9
swissprot - P16615
Ensembl - ENSG00000174437
  
Related genetic diseases (OMIM): 101900 - Acrokeratosis verruciformis, 101900
  124200 - Darier disease, 124200
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
 atp2a2aENSDARG00000029439Danio rerio
 atp2a2aENSDARG00000005122Danio rerio
 ATP2A2ENSGALG00000032287Gallus gallus
 Atp2a2ENSMUSG00000029467Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ATP2A1 / O14983 / ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1ENSG0000019629681
ATP2A3 / Q93084 / ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3ENSG0000007437074
ATP2C1 / P98194 / ATPase secretory pathway Ca2+ transporting 1ENSG0000001726031
ATP2C2 / O75185 / ATPase secretory pathway Ca2+ transporting 2ENSG0000006427030
ATP1A2 / P50993 / ATPase Na+/K+ transporting subunit alpha 2ENSG0000001862528
ATP1A1 / P05023 / ATPase Na+/K+ transporting subunit alpha 1ENSG0000016339928
ATP1A4 / Q13733 / ATPase Na+/K+ transporting subunit alpha 4ENSG0000013268128
AC010616.2ENSG0000028550528
ATP1A3 / P13637 / ATPase Na+/K+ transporting subunit alpha 3ENSG0000010540928
ATP4A / P20648 / ATPase H+/K+ transporting alpha subunitENSG0000010567528
ATP12A / P54707 / ATPase H+/K+ transporting non-gastric alpha2 subunitENSG0000007567327


Protein motifs (from Interpro)
Interpro ID Name
 IPR001757  P-type ATPase
 IPR004014  Cation-transporting P-type ATPase, N-terminal
 IPR005782  P-type ATPase, subfamily IIA, SERCA-type
 IPR006068  Cation-transporting P-type ATPase, C-terminal
 IPR008250  P-type ATPase, A domain superfamily
 IPR018303  P-type ATPase, phosphorylation site
 IPR023214  HAD superfamily
 IPR023298  P-type ATPase, transmembrane domain superfamily
 IPR023299  P-type ATPase, cytoplasmic domain N
 IPR036412  HAD-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002026 regulation of the force of heart contraction IEA
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006816 calcium ion transport IEA
 biological_processGO:0006874 cellular calcium ion homeostasis IEA
 biological_processGO:0006984 ER-nucleus signaling pathway IEA
 biological_processGO:0006996 organelle organization IEA
 biological_processGO:0007155 cell adhesion TAS
 biological_processGO:0008544 epidermis development TAS
 biological_processGO:0010460 positive regulation of heart rate TAS
 biological_processGO:0010882 regulation of cardiac muscle contraction by calcium ion signaling IEA
 biological_processGO:0014883 transition between fast and slow fiber IEA
 biological_processGO:0014898 cardiac muscle hypertrophy in response to stress IEA
 biological_processGO:0032469 endoplasmic reticulum calcium ion homeostasis IDA
 biological_processGO:0032470 positive regulation of endoplasmic reticulum calcium ion concentration IDA
 biological_processGO:0033292 T-tubule organization IEA
 biological_processGO:0034220 ion transmembrane transport TAS
 biological_processGO:0034599 cellular response to oxidative stress IEA
 biological_processGO:0034976 response to endoplasmic reticulum stress ISS
 biological_processGO:0045822 negative regulation of heart contraction IEA
 biological_processGO:0055119 relaxation of cardiac muscle IEA
 biological_processGO:0070296 sarcoplasmic reticulum calcium ion transport TAS
 biological_processGO:0070588 calcium ion transmembrane transport IEA
 biological_processGO:0086036 regulation of cardiac muscle cell membrane potential TAS
 biological_processGO:0098909 regulation of cardiac muscle cell action potential involved in regulation of contraction ISS
 biological_processGO:0099132 ATP hydrolysis coupled cation transmembrane transport IEA
 biological_processGO:1903233 regulation of calcium ion-dependent exocytosis of neurotransmitter IEA
 biological_processGO:1903515 calcium ion transport from cytosol to endoplasmic reticulum IDA
 biological_processGO:1903779 regulation of cardiac conduction TAS
 biological_processGO:1990036 calcium ion import into sarcoplasmic reticulum ISS
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0012506 vesicle membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016529 sarcoplasmic reticulum IDA
 cellular_componentGO:0031095 platelet dense tubular network membrane TAS
 cellular_componentGO:0031234 extrinsic component of cytoplasmic side of plasma membrane IEA
 cellular_componentGO:0033017 sarcoplasmic reticulum membrane TAS
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:0097470 ribbon synapse IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0005388 calcium-transporting ATPase activity IEA
 molecular_functionGO:0005509 calcium ion binding IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0031775 lutropin-choriogonadotropic hormone receptor binding IEA
 molecular_functionGO:0044548 S100 protein binding IPI
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0086039 calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential TAS


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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000962 Hyperkeratosis "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [HPO:curators]
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 HP:0000982 Palmoplantar keratoderma 
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 HP:0000989 Pruritus "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators]
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 HP:0001034 Hyperpigmented macules 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001256 Mental retardation, mild "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators]
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 HP:0001595 Hair abnormality 
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 HP:0001807 Nail ridging 
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 HP:0005212 Anal mucosal leukoplakia 
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 HP:0007302 Bipolar affective disorder 
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 HP:0008410 Subungual hyperkeratotic fragments 
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 HP:0010610 Palmar pits 
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 HP:0010612 Plantar pits 
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 HP:0011801 Enlargement of parotid gland "Increased size of the parotid gland." [DDD:jclayton-smith]
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 HP:0025092 Epidermal acanthosis "Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin)." []
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 HP:0100753 Schizophrenia "A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%." [HPO:sdoelken]
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 HP:0200016 Acrokeratosis "Overgrowth of the skin s horny layer. Normally characterized by nodular configurations of the backs of the toes and fingers." [HPO:skoehler]
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 HP:0200037 skin vesicle "A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point." [HPO:SKOEHLER]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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