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Aliases for ATP2A3 Gene

Aliases for ATP2A3 Gene

  • ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 3 2 3
  • ATPase, Ca++ Transporting, Ubiquitous 2 3 5
  • Calcium Pump 3 2 3 4
  • SR Ca(2+)-ATPase 3 3 4
  • EC 3.6.3.8 4 63
  • SERCA3 3 4
  • Sarcoplasmic/Endoplasmic Reticulum Calcium ATPase 3 2
  • Sarco/Endoplasmic Reticulum Ca2+ -ATPase 3
  • ATPase, Ca(2+)-Transporting, Ubiquitous 3
  • Calcium-Translocating P-Type ATPase 3
  • Adenosine Triphosphatase, Calcium 3
  • EC 3.6.3 63

External Ids for ATP2A3 Gene

Previous GeneCards Identifiers for ATP2A3 Gene

  • GC17M004140
  • GC17M003777
  • GC17M004033
  • GC17M003761
  • GC17M003822

Summaries for ATP2A3 Gene

Entrez Gene Summary for ATP2A3 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 to the sarcoplasmic reticulum lumen, and is involved in calcium sequestration associated with muscular excitation and contraction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for ATP2A3 Gene

ATP2A3 (ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 3) is a Protein Coding gene. Diseases associated with ATP2A3 include darier disease and brody myopathy. Among its related pathways are Alzheimer's disease and Calcium signaling pathway. GO annotations related to this gene include nucleotide binding and calcium-transporting ATPase activity. An important paralog of this gene is ATP2C1.

UniProtKB/Swiss-Prot for ATP2A3 Gene

  • This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium. Transports calcium ions from the cytosol into the sarcoplasmic/endoplasmic reticulum lumen. Contributes to calcium sequestration involved in muscular excitation/contraction.

Tocris Summary for ATP2A3 Gene

  • Ca2+-ATPases function to maintain a low cytoplasmic concentration of Ca2+ ions. They are high affinity, low capacitance transporters and complement the actions of the low affinity, high capacitance Na+/Ca2+ exchanger. Ca2+-ATPases are P-type ATPases.

Gene Wiki entry for ATP2A3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP2A3 Gene

Genomics for ATP2A3 Gene

Regulatory Elements for ATP2A3 Gene

Enhancers for ATP2A3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ATP2A3 on UCSC Golden Path with GeneCards custom track

Promoters for ATP2A3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATP2A3 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the ATP2A3 gene promoter:

Genomic Location for ATP2A3 Gene

Chromosome:
17
Start:
3,923,869 bp from pter
End:
3,964,464 bp from pter
Size:
40,596 bases
Orientation:
Minus strand

Genomic View for ATP2A3 Gene

Genes around ATP2A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP2A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP2A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP2A3 Gene

Proteins for ATP2A3 Gene

  • Protein details for ATP2A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q93084-AT2A3_HUMAN
    Recommended name:
    Sarcoplasmic/endoplasmic reticulum calcium ATPase 3
    Protein Accession:
    Q93084
    Secondary Accessions:
    • A8MZG0
    • D3DTJ8
    • O60900
    • O60901
    • O75501
    • O75502
    • Q16115
    • Q6JHX1
    • Q8TEX5
    • Q8TEX6

    Protein attributes for ATP2A3 Gene

    Size:
    1043 amino acids
    Molecular mass:
    113977 Da
    Quaternary structure:
    • Interacts with sarcolipin (SLN) (By similarity). Interacts with phospholamban (PLN) (By similarity). Interacts with myoregulin (MRLN). Interacts with DWORF (By similarity).

    Alternative splice isoforms for ATP2A3 Gene

neXtProt entry for ATP2A3 Gene

Proteomics data for ATP2A3 Gene at MOPED

Post-translational modifications for ATP2A3 Gene

  • Ubiquitination at Lys 120, Lys 128, Lys 169, Lys 189, Lys 218, Lys 234, Lys 252, Lys 431, Lys 451, Lys 476, Lys 492, Lys 515, Lys 548, Lys 629, Lys 651, and Lys 712
  • Modification sites at PhosphoSitePlus

Domains & Families for ATP2A3 Gene

Gene Families for ATP2A3 Gene

Suggested Antigen Peptide Sequences for ATP2A3 Gene

Graphical View of Domain Structure for InterPro Entry

Q93084

UniProtKB/Swiss-Prot:

AT2A3_HUMAN :
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily.
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 ATP2A3: view

Function for ATP2A3 Gene

Molecular function for ATP2A3 Gene

GENATLAS Biochemistry:
sarcoplasmic reticulum,ATPase 3,Ca++ transporting,97 kDa,with three alternatively spliced isoforms a,b,c,expressed in various fetal and adult tissues,mediating the extrusion of CA2+ from internal stores in the endoplasmic reticulum
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2).
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by sarcolipin (SLN), phospholamban (PLN) and myoregulin (MRLN) (By similarity). Enhanced by DWORF; DWORF increases activity by displacing sarcolipin (SLN), phospholamban (PLN) and myoregulin (MRLN) (By similarity).
UniProtKB/Swiss-Prot Function:
This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium. Transports calcium ions from the cytosol into the sarcoplasmic/endoplasmic reticulum lumen. Contributes to calcium sequestration involved in muscular excitation/contraction.

Enzyme Numbers (IUBMB) for ATP2A3 Gene

Gene Ontology (GO) - Molecular Function for ATP2A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005388 calcium-transporting ATPase activity IEA,TAS --
genes like me logo Genes that share ontologies with ATP2A3: view
genes like me logo Genes that share phenotypes with ATP2A3: view

Animal Models for ATP2A3 Gene

MGI Knock Outs for ATP2A3:

In Situ Assay Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATP2A3 Gene

Localization for ATP2A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP2A3 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP2A3 Gene COMPARTMENTS Subcellular localization image for ATP2A3 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 5
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for ATP2A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016529 sarcoplasmic reticulum IDA 8809064
GO:0033017 sarcoplasmic reticulum membrane IBA --
genes like me logo Genes that share ontologies with ATP2A3: view

Pathways & Interactions for ATP2A3 Gene

genes like me logo Genes that share pathways with ATP2A3: view

Gene Ontology (GO) - Biological Process for ATP2A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 8809064
GO:0006874 cellular calcium ion homeostasis IBA --
GO:0034220 ion transmembrane transport TAS --
GO:1903779 regulation of cardiac conduction TAS --
genes like me logo Genes that share ontologies with ATP2A3: view

No data available for SIGNOR curated interactions for ATP2A3 Gene

Drugs & Compounds for ATP2A3 Gene

(23) Drugs for ATP2A3 Gene - From: ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Disulfiram Approved Pharma Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 34
calcium Nutra 0
Magnesium Nutra 0
Glucagon (19-29), human Pharma Potent Ca2+/Mg2+-ATPase inhibitor 0

(18) Additional Compounds for ATP2A3 Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Cyclopiazonic acid
18172-33-3
Thapsigargin
67526-95-8
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5

(5) Tocris Compounds for ATP2A3 Gene

Compound Action Cas Number
Cyclopiazonic acid Inhibitor of SERCA ATPase 18172-33-3
Disulfiram Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 97-77-8
Ochratoxin A Stimulates SERCA-ATP-dependent Ca2+ pump activity 303-47-9
Paxilline SERCA ATPase blocker. Also potent BKCa channel blocker 57186-25-1
Thapsigargin Potent inhibitor of SERCA ATPase 67526-95-8

(1) ApexBio Compounds for ATP2A3 Gene

Compound Action Cas Number
Glucagon (19-29), human Potent Ca2+/Mg2+-ATPase inhibitor 64790-15-4
genes like me logo Genes that share compounds with ATP2A3: view

Transcripts for ATP2A3 Gene

Unigene Clusters for ATP2A3 Gene

ATPase, Ca++ transporting, ubiquitous:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATP2A3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c · 12d ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18a · 18b ·
SP1: - - -
SP2: - - -
SP3: - - -
SP4: - - - - - - - - - - - - - - - - - - -
SP5: -
SP6: -
SP7: -
SP8:
SP9:
SP10:

ExUns: 18c · 18d ^ 19 ^ 20a · 20b · 20c ^ 21a · 21b · 21c · 21d ^ 22
SP1: - - - -
SP2: - - - -
SP3: - - - - -
SP4:
SP5: - - -
SP6:
SP7:
SP8:
SP9: -
SP10: -

Relevant External Links for ATP2A3 Gene

GeneLoc Exon Structure for
ATP2A3
ECgene alternative splicing isoforms for
ATP2A3

Expression for ATP2A3 Gene

mRNA expression in normal human tissues for ATP2A3 Gene

mRNA differential expression in normal tissues according to GTEx for ATP2A3 Gene

This gene is overexpressed in Whole Blood (x10.8), Spleen (x4.8), and Colon - Transverse (x4.0).

Protein differential expression in normal tissues from HIPED for ATP2A3 Gene

This gene is overexpressed in Nasal epithelium (20.4), Peripheral blood mononuclear cells (17.4), and Platelet (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATP2A3 Gene



SOURCE GeneReport for Unigene cluster for ATP2A3 Gene Hs.513870

mRNA Expression by UniProt/SwissProt for ATP2A3 Gene

Q93084-AT2A3_HUMAN
Tissue specificity: Found in most tissues. Most abundant in thymus, trachea, salivary gland, spleen, bone marrow, lymph node, peripheral leukocytes, pancreas and colon. Also detected in fetal tissues. Expressed in cell lineages of hematopoietic, epithelial, or embryonic origin and also expressed in several cancer cell lines.
genes like me logo Genes that share expression patterns with ATP2A3: view

Protein tissue co-expression partners for ATP2A3 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ATP2A3 Gene

Orthologs for ATP2A3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP2A3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATP2A3 35
  • 90.62 (n)
  • 94.46 (a)
ATP2A3 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP2A3 35
  • 89.39 (n)
  • 93.19 (a)
ATP2A3 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp2a3 35
  • 88.09 (n)
  • 93.74 (a)
Atp2a3 16
Atp2a3 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP2A3 35
  • 97.76 (n)
  • 97.47 (a)
ATP2A3 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp2a3 35
  • 88.47 (n)
  • 94.86 (a)
oppossum
(Monodelphis domestica)
Mammalia ATP2A3 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP2A3 36
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP2A3 35
  • 77.47 (n)
  • 80.02 (a)
ATP2A3 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp2a3 35
  • 70.03 (n)
  • 79.13 (a)
zebrafish
(Danio rerio)
Actinopterygii atp2a3 35
  • 71.91 (n)
  • 78.1 (a)
atp2a3 36
  • 78 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ca-P60A 37
  • 67 (a)
Ca-P60A 36
  • 66 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sca-1 36
  • 65 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMR1 36
  • 31 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.17526 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10300 36
  • 55 (a)
ManyToMany
Species with no ortholog for ATP2A3:
  • 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)
  • lizard (Anolis carolinensis)
  • 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 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 ATP2A3 Gene

ENSEMBL:
Gene Tree for ATP2A3 (if available)
TreeFam:
Gene Tree for ATP2A3 (if available)

Paralogs for ATP2A3 Gene

Paralogs for ATP2A3 Gene

(6) SIMAP similar genes for ATP2A3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ATP2A3: view

Variants for ATP2A3 Gene

Sequence variations from dbSNP and Humsavar for ATP2A3 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
VAR_036498 A breast cancer sample
rs11654827 - 3,935,195(+) ACCAG(C/G)TGGTA reference, missense
rs3084 -- 3,924,797(-) GGGCC(C/T)GGGCG reference, missense, utr-variant-3-prime
rs933209 -- 3,957,260(-) TAGTC(A/G)CTCAA intron-variant
rs933210 -- 3,957,170(-) GGCAC(A/G)CAAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP2A3 Gene

Variant ID Type Subtype PubMed ID
nsv833343 CNV Loss 17160897
dgv3043n71 CNV Loss 21882294
dgv3044n71 CNV Loss 21882294
nsv526126 CNV Loss 19592680
nsv524296 CNV Loss 19592680
nsv521340 CNV Gain 19592680
nsv517834 CNV Loss 19592680
dgv3045n71 CNV Loss 21882294
nsv470571 CNV Loss 18288195
esv2715541 CNV Deletion 23290073
esv2350557 CNV Deletion 18987734
esv4315 CNV Deletion 18987735
esv2715542 CNV Deletion 23290073
esv1001211 CNV Deletion 20482838
esv2715543 CNV Deletion 23290073
esv1309502 CNV Deletion 17803354
esv2676483 CNV Deletion 23128226
nsv907584 CNV Loss 21882294
esv2715544 CNV Deletion 23290073
nsv907585 CNV Loss 21882294

Variation tolerance for ATP2A3 Gene

Residual Variation Intolerance Score: 5.77% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.52; 71.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP2A3 Gene

HapMap Linkage Disequilibrium report
ATP2A3
Human Gene Mutation Database (HGMD)
ATP2A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP2A3 Gene

Disorders for ATP2A3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ATP2A3 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
darier disease
  • keratosis follicularis
brody myopathy
  • brody disease
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ATP2A3

Genetic Association Database (GAD)
ATP2A3
Human Genome Epidemiology (HuGE) Navigator
ATP2A3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP2A3
genes like me logo Genes that share disorders with ATP2A3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP2A3 Gene

Publications for ATP2A3 Gene

  1. cDNA cloning, expression and chromosomal localization of the human sarco/endoplasmic reticulum Ca(2+)-ATPase 3 gene. (PMID: 8809064) Dode L. … Casteels R. (Biochem. J. 1996) 2 3 4 23 67
  2. Multiple and diverse coexpression, location, and regulation of additional SERCA2 and SERCA3 isoforms in nonfailing and failing human heart. (PMID: 19962989) Dally S. … Enouf J. (J. Mol. Cell. Cardiol. 2010) 3 23
  3. Compartmentalized expression of three novel sarco/endoplasmic reticulum Ca2+ATPase 3 isoforms including the switch to ER stress, SERCA3f, in non-failing and failing human heart. (PMID: 18947868) Dally S. … Enouf J. (Cell Calcium 2009) 3 23
  4. ATP2A3 gene is involved in cancer susceptibility. (PMID: 19100511) Korosec B. … Ravnik-Glavac M. (Cancer Genet. Cytogenet. 2009) 3 23
  5. Expression of sarco/endoplasmic reticulum Ca(2+) ATPase (SERCA) 3 proteins in two major conformational states in native human cell membranes. (PMID: 19135027) Corvazier E. … Enouf J. (Biochim. Biophys. Acta 2009) 3 23

Products for ATP2A3 Gene

Sources for ATP2A3 Gene

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