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Aliases for ATP2A2 Gene

Aliases for ATP2A2 Gene

  • ATPase, Ca++ Transporting, Cardiac Muscle, Slow Twitch 2 2 3
  • Calcium Pump 2 2 3 4
  • ATP2B 3 4 6
  • Calcium-Transporting ATPase Sarcoplasmic Reticulum Type, Slow Twitch Skeletal Muscle Isoform 3 4
  • Sarcoplasmic/Endoplasmic Reticulum Calcium ATPase 2 2 3
  • Endoplasmic Reticulum Class 1/2 Ca(2+) ATPase 3 4
  • SR Ca(2+)-ATPase 2 3 4
  • EC 3.6.3.8 4 63
  • SERCA2 3 4
  • DAR 3 6
  • ATPase, Ca++ Dependent, Slow-Twitch, Cardiac Muscle-2 3
  • Cardiac Ca2+ ATPase 3
  • EC 3.6.3 63
  • DD 3

External Ids for ATP2A2 Gene

Previous HGNC Symbols for ATP2A2 Gene

  • ATP2B
  • DAR

Previous GeneCards Identifiers for ATP2A2 Gene

  • GC12P109794
  • GC12P110566
  • GC12P109182
  • GC12P110719
  • GC12P107737

Summaries for ATP2A2 Gene

Entrez Gene Summary for ATP2A2 Gene

  • This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2008]

GeneCards Summary for ATP2A2 Gene

ATP2A2 (ATPase, Ca++ Transporting, Cardiac Muscle, Slow Twitch 2) is a Protein Coding gene. Diseases associated with ATP2A2 include acrokeratosis verruciformis and darier disease. Among its related pathways are Signaling by GPCR and CREB Pathway. GO annotations related to this gene include enzyme binding and calcium-transporting ATPase activity. An important paralog of this gene is ATP2A1.

UniProtKB/Swiss-Prot for ATP2A2 Gene

  • This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen. Isoform 2 is involved in the regulation of the contraction/relaxation cycle.

Tocris Summary for ATP2A2 Gene

  • Ca2+-ATPases function to maintain a low cytoplasmic conentration of Ca2+ ions. They are high affinity, low capacitance transporters and compliment the actions of the low affinity, high capacitance Na+/Ca2+ exchanger. Ca2+-ATPases are P-type ATPases and there are two varients; a plasma membrane-bound Ca2+-ATPase (PMCA) and a sacroplasmic reticulum Ca2+-ATPase (SERCA). PMCA exists as a dimer within the plasma membrane of a wide variety of cell types and, using the energy released from ATP hydrolysis, transports Ca2+ ions out of the cell against the concentration gradient. SERCA is located in the sarcoplasmic reticulum (SR) of muscle cells and transports Ca2+ ions from the cytoplasm into the SR lumen during muscle relaxation. PMCA transports one Ca2+ ion per ATP molecule hydrolyzed, whilst SERCA can transport two. PMCAs are regulated by calmodulin and the phospholipid composition of the surrounding plasma membrane. Furthermore, PMCA can be phosphorylated by PKA, PKC, Src and FAK at specific residues to influence activity. So far, only one human pathology has been linked to PMCA defects; deafness. However, SERCA defects have been implicated in a wide array of pathologies including heart failure, sperm motility defects, cataract formation, carcinogenesis, diabetes, and cardiac hypertension and hypertrophy.

No data available for Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP2A2 Gene

Genomics for ATP2A2 Gene

Regulatory Elements for ATP2A2 Gene

Transcription factor binding sites by QIAGEN in the ATP2A2 gene promoter:

Genomic Location for ATP2A2 Gene

Start:
110,280,756 bp from pter
End:
110,351,093 bp from pter
Size:
70,338 bases
Orientation:
Plus strand

Genomic View for ATP2A2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATP2A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP2A2 Gene

Proteins for ATP2A2 Gene

  • Protein details for ATP2A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P16615-AT2A2_HUMAN
    Recommended name:
    Sarcoplasmic/endoplasmic reticulum calcium ATPase 2
    Protein Accession:
    P16615
    Secondary Accessions:
    • A6NDN7
    • B4DF05
    • P16614
    • Q86VJ2

    Protein attributes for ATP2A2 Gene

    Size:
    1042 amino acids
    Molecular mass:
    114757 Da
    Quaternary structure:
    • Associated with phospholamban (PLN) (By similarity). Isoform 1 interacts with TRAM2 (via C-terminus). Interacts with HAX1. Interacts with S100A8 and S100A9 (By similarity). Interacts with SLC35G1 and STIM1.
    SequenceCaution:
    • Sequence=BAG57266.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for ATP2A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP2A2 Gene

Proteomics data for ATP2A2 Gene at MOPED

Post-translational modifications for ATP2A2 Gene

  • Nitrated under oxidative stress. Nitration on the two tyrosine residues inhibits catalytic activity.
  • Ubiquitination at Lys143, Lys205, Lys352, Lys436, Lys460, Lys481, Lys628, Lys650, Lys712, and Lys995
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP2A2 Gene

Domains for ATP2A2 Gene

Gene Families for ATP2A2 Gene

HGNC:
  • PATP :ATPases / P-type
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

P16615

UniProtKB/Swiss-Prot:

AT2A2_HUMAN :
  • P16615
Family:
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily.
genes like me logo Genes that share domains with ATP2A2: view

Function for ATP2A2 Gene

Molecular function for ATP2A2 Gene

GENATLAS Biochemistry: ATPase,Ca++ transporting,expressed in the sarcoplasmic reticullum of the heart (SERCA2A) rate determining factor of Ca2+ reuptake into the SR,regulated by phospholamban,also expressed in the heart,slow-twitch muscle,highly expressed in keratinocytes,including two isoforms,a (D12S2026),b (D12S1965). Ca2+ pump,playing a pivotal role in intracellular Ca2+ signaling
UniProtKB/Swiss-Prot CatalyticActivity: ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2)
UniProtKB/Swiss-Prot EnzymeRegulation: Reversibly inhibited by phospholamban (PLN) at low calcium concentrations. Dephosphorylated PLN decreases the apparent affinity of the ATPase for calcium. This inhibition is regulated by the phosphorylation of PLN (By similarity).
UniProtKB/Swiss-Prot Function: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen. Isoform 2 is involved in the regulation of the contraction/relaxation cycle.

Enzyme Numbers (IUBMB) for ATP2A2 Gene

Gene Ontology (GO) - Molecular Function for ATP2A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding --
GO:0005388 calcium-transporting ATPase activity IDA 16402920
GO:0005509 calcium ion binding IDA 16402920
GO:0005515 protein binding IPI 17526652
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with ATP2A2: view
genes like me logo Genes that share phenotypes with ATP2A2: view

Animal Models for ATP2A2 Gene

MGI Knock Outs for ATP2A2:

No data available for Transcription Factor Targeting and HOMER Transcription for ATP2A2 Gene

Localization for ATP2A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP2A2 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Sarcoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP2A2 Gene COMPARTMENTS Subcellular localization image for ATP2A2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
cytoskeleton 2
cytosol 2
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ATP2A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 16081076
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005887 integral component of plasma membrane TAS 2844796
GO:0014704 colocalizes_with intercalated disc IDA 16402920
GO:0014801 longitudinal sarcoplasmic reticulum IDA 16402920
genes like me logo Genes that share ontologies with ATP2A2: view

Pathways for ATP2A2 Gene

genes like me logo Genes that share pathways with ATP2A2: view

Gene Ontology (GO) - Biological Process for ATP2A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002026 regulation of the force of heart contraction IEA --
GO:0006810 transport --
GO:0006816 calcium ion transport --
GO:0006874 cellular calcium ion homeostasis IDA 10587333
GO:0006984 ER-nucleus signaling pathway IEA --
genes like me logo Genes that share ontologies with ATP2A2: view

Compounds for ATP2A2 Gene

(5) Tocris Compounds for ATP2A2 Gene

Compound Action Cas Number
Artemisinin Antimalarial; inhibits P-type ATPase (PfATP6) of P.falciparum [63968-64-9]
BHQ Inhibitor of SERCA ATPase [88-58-4]
Cyclopiazonic acid Inhibitor of SERCA ATPase [18172-33-3]
Ochratoxin A Stimulates SERCA-ATP-dependent Ca2+ pump activity [303-47-9]
Thapsigargin Potent inhibitor of SERCA ATPase [67526-95-8]

(2) HMDB Compounds for ATP2A2 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Magnesium
  • Magnesium
7439-95-4

(13) Novoseek inferred chemical compound relationships for ATP2A2 Gene

Compound -log(P) Hits PubMed IDs
calcium 66.8 107
etomoxir 63.1 1
ryanodine 62.2 8
thapsigargin 52.8 2
inositol 1,4,5 trisphosphate 19.6 1
genes like me logo Genes that share compounds with ATP2A2: view

Transcripts for ATP2A2 Gene

Unigene Clusters for ATP2A2 Gene

ATPase, Ca++ transporting, cardiac muscle, slow twitch 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATP2A2 Gene

No ASD Table

Relevant External Links for ATP2A2 Gene

GeneLoc Exon Structure for
ATP2A2
ECgene alternative splicing isoforms for
ATP2A2

Expression for ATP2A2 Gene

mRNA expression in normal human tissues for ATP2A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP2A2 Gene

This gene is overexpressed in Muscle - Skeletal (11.3), Heart - Left Ventricle (7.6), and Heart - Atrial Appendage (7.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATP2A2 Gene

SOURCE GeneReport for Unigene cluster for ATP2A2 Gene Hs.506759

mRNA Expression by UniProt/SwissProt for ATP2A2 Gene

P16615-AT2A2_HUMAN
Tissue specificity: Isoform 1 is widely expressed in smooth muscle and nonmuscle tissues such as in adult skin epidermis, with highest expression in liver, pancreas and lung, and intermediate expression in brain, kidney and placenta. Also expressed at lower levels in heart and skeletal muscle. Isoforms 2 and 3 are highly expressed in the heart and slow twitch skeletal muscle. Expression of isoform 3 is predominantly restricted to cardiomyocytes and in close proximity to the sarcolemma. Both isoforms are mildly expressed in lung, kidney, liver, pancreas and placenta. Expression of isoform 3 is amplified during monocytic differentiation and also observed in the fetal heart.
genes like me logo Genes that share expressions with ATP2A2: view

Orthologs for ATP2A2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATP2A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP2A2 35
  • 99.43 (n)
  • 99.4 (a)
ATP2A2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATP2A2 35
  • 93.07 (n)
  • 98.52 (a)
ATP2A2 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP2A2 35
  • 92.25 (n)
  • 98.99 (a)
ATP2A2 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp2a2 35
  • 90.34 (n)
  • 98.85 (a)
Atp2a2 16
Atp2a2 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP2A2 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP2A2 36
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp2a2 35
  • 90.15 (n)
  • 99.04 (a)
chicken
(Gallus gallus)
Aves ATP2A2 35
  • 81.77 (n)
  • 93.95 (a)
ATP2A2 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP2A2 36
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp2a2 35
  • 80.65 (n)
  • 93.09 (a)
Str.10843 35
zebrafish
(Danio rerio)
Actinopterygii atp2a2a 35
  • 76.15 (n)
  • 87.84 (a)
atp2a2a 36
  • 86 (a)
OneToMany
atp2a2b 36
  • 88 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Ca-P60A 36
  • 71 (a)
OneToMany
Ca-P60A 37
  • 72 (a)
worm
(Caenorhabditis elegans)
Secernentea sca-1 36
  • 67 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMR1 36
  • 31 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5719 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 69 (a)
ManyToMany
Species with no ortholog for ATP2A2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATP2A2 Gene

ENSEMBL:
Gene Tree for ATP2A2 (if available)
TreeFam:
Gene Tree for ATP2A2 (if available)

Paralogs for ATP2A2 Gene

Paralogs for ATP2A2 Gene

Pseudogenes.org Pseudogenes for ATP2A2 Gene

genes like me logo Genes that share paralogs with ATP2A2: view

Variants for ATP2A2 Gene

Sequence variations from dbSNP and Humsavar for ATP2A2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs3415 -- 110,350,952(+) ATCTT(A/C)ATAAA utr-variant-3-prime, nc-transcript-variant
rs9540 -- 110,351,050(+) AGCGT(C/T)GCACA utr-variant-3-prime, nc-transcript-variant
rs12638 -- 110,350,899(+) AAATC(A/T)GAAGC utr-variant-3-prime, nc-transcript-variant
rs767266 -- 110,297,132(+) GGGTA(A/G)TTTCT intron-variant
rs929518 -- 110,298,010(+) ATACT(A/G)TTATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP2A2 Gene

Variant ID Type Subtype PubMed ID
esv28186 CNV Loss 19812545

Relevant External Links for ATP2A2 Gene

HapMap Linkage Disequilibrium report
ATP2A2
Human Gene Mutation Database (HGMD)
ATP2A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP2A2 Gene

Disorders for ATP2A2 Gene

(2) OMIM Diseases for ATP2A2 Gene (108740)

UniProtKB/Swiss-Prot

AT2A2_HUMAN
  • Acrokeratosis verruciformis (AKV) [MIM:101900]: A localized disorder of keratinization, which is inherited as an autosomal dominant trait. Its onset is early in life with multiple flat-topped, flesh-colored papules on the hands and feet, punctate keratoses on the palms and soles, with varying degrees of nail involvement. The histopathology shows a distinctive pattern of epidermal features with hyperkeratosis, hypergranulosis and acanthosis together with papillomatosis. These changes are frequently associated with circumscribed elevations of the epidermis that are said to resemble church spires. There are no features of dyskeratosis or acantholysis, the typical findings in lesions of Darier disease. {ECO:0000269 PubMed:12542527}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Darier disease (DD) [MIM:124200]: A skin disorder characterized by warty papules and plaques in seborrheic areas (central trunk, flexures, scalp and forehead), palmoplantar pits and distinctive nail abnormalities. It is due to loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Patients with mild disease may have no more than a few scattered keratotic papules or subtle nail changes, whereas those with severe disease are handicapped by widespread malodorous keratotic plaques. Some patients present with hemorrhage into acantholytic vesicles on the palms and dorsal aspects of the fingers which gives rise to black macules. In a few families affected by Darier disease, neuropsychiatric abnormalities such as mild mental retardation, schizophrenia, bipolar disorder and epilepsy have been reported. Stress, UV exposure, heat, sweat, friction and oral contraception exacerbate disease symptoms. Clinical variants of Darier disease include hypertrophic, vesicobullous, hypopigmented, cornifying, zosteriform or linear, acute and comedonal subtypes. Comedonal Darier disease is characterized by the coexistence of acne-like comedonal lesions with typical Darier hyperkeratotic papules on light-exposed areas. At histopathologic level, comedonal Darier disease differs from classic Darier disease in the prominent follicular involvement and the presence of greatly elongated dermal villi. {ECO:0000269 PubMed:10080178, ECO:0000269 PubMed:10441323, ECO:0000269 PubMed:10441324, ECO:0000269 PubMed:10441325, ECO:0000269 PubMed:19995371}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(19) Novoseek inferred disease relationships for ATP2A2 Gene

Disease -log(P) Hits PubMed IDs
darier disease 97.5 88
hailey-hailey disease 84.5 5
acrokeratosis verruciformis 79.6 2
skin diseases 66 9
heart failure 58.8 13

Relevant External Links for ATP2A2

Genetic Association Database (GAD)
ATP2A2
Human Genome Epidemiology (HuGE) Navigator
ATP2A2
genes like me logo Genes that share disorders with ATP2A2: view

Publications for ATP2A2 Gene

  1. ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class. (PMID: 10441324) Ruiz-Perez V.L. … Strachan T. (Hum. Mol. Genet. 1999) 3 4 23 48
  2. Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. (PMID: 10080178) Sakuntabhai A. … Hovnanian A. (Nat. Genet. 1999) 2 3 4 23
  3. Spectrum of novel ATP2A2 mutations in patients with Darier's disease. (PMID: 10441323) Sakuntabhai A. … Hovnanian A. (Hum. Mol. Genet. 1999) 3 4 23
  4. ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes. (PMID: 10441325) Jacobsen N.J.O. … Owen M.J. (Hum. Mol. Genet. 1999) 3 4 23
  5. Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease. (PMID: 12542527) Dhitavat J. … Hovnanian A. (J. Invest. Dermatol. 2003) 3 4 23

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