Homo sapiens Gene: ATP2A2
Summary
InnateDB Gene IDBG-56943.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ATP2A2
Gene Name ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
Synonyms ATP2B; DAR; DD; SERCA2
Species Homo sapiens
Ensembl Gene ENSG00000174437
Encoded Proteins
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:110280756-110351093
Strand Forward strand
Band q24.11
Transcripts
ENST00000308664 ENSP00000311186
ENST00000377685 ENSP00000366913
ENST00000313432
ENST00000552636 ENSP00000447406
ENST00000539276 ENSP00000440045
ENST00000548169 ENSP00000449454
ENST00000550248
ENST00000547050
ENST00000549840
ENST00000550262
ENST00000547792
ENST00000553144 ENSP00000450407
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 48 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 48 [view]
Protein-Protein 48 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000166 nucleotide binding
GO:0005388 calcium-transporting ATPase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008022 protein C-terminus binding
GO:0019829 cation-transporting ATPase activity
GO:0019899 enzyme binding
GO:0044548 S100 protein binding
GO:0046872 metal ion binding
GO:0086039 calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential
Biological Process
GO:0002026 regulation of the force of heart contraction
GO:0006810 transport
GO:0006812 cation transport
GO:0006816 calcium ion transport
GO:0006874 cellular calcium ion homeostasis
GO:0006984 ER-nucleus signaling pathway
GO:0007155 cell adhesion
GO:0007596 blood coagulation
GO:0008152 metabolic process
GO:0008544 epidermis development
GO:0010460 positive regulation of heart rate
GO:0034220 ion transmembrane transport
GO:0045822 negative regulation of heart contraction
GO:0055085 transmembrane transport
GO:0055119 relaxation of cardiac muscle
GO:0070296 sarcoplasmic reticulum calcium ion transport
GO:0070588 calcium ion transmembrane transport
GO:0086036 regulation of cardiac muscle cell membrane potential
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016529 sarcoplasmic reticulum
GO:0031095 platelet dense tubular network membrane
GO:0033017 sarcoplasmic reticulum membrane
GO:0043231 intracellular membrane-bounded organelle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Reduction of cytosolic Ca++ levels pathway
Platelet homeostasis pathway
Ion transport by P-type ATPases pathway
Pre-NOTCH Processing in Golgi pathway
Transmembrane transport of small molecules pathway
Pre-NOTCH Expression and Processing pathway
Platelet calcium homeostasis pathway
Signal Transduction pathway
Ion channel transport pathway
Signaling by NOTCH pathway
Hemostasis pathway
KEGG
Alzheimer's disease pathway
Calcium signaling pathway pathway
Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway
Hypertrophic cardiomyopathy (HCM) pathway
Cardiac muscle contraction pathway
Dilated cardiomyopathy pathway
Pancreatic secretion pathway
INOH
PID NCI
Cross-References
SwissProt P16615
TrEMBL
UniProt Splice Variant
Entrez Gene 488
UniGene Hs.658056
RefSeq NM_001681 NM_170665
HUGO HGNC:812
OMIM 108740
CCDS CCDS9143 CCDS9144
HPRD 00161
IMGT
EMBL AC006088 AK293877 AY186578 BC035588 M23114 M23115 M23116 M23278
GenPept AAA52757 AAA52758 AAA53193 AAA53194 AAH35588 AAO47398 BAG57266
RNA Seq Atlas 488