ATP2A2 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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488 |
Gene nameGene Name - the full gene name approved by the HGNC.
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ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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ATP2A2 |
SynonymsGene synonyms aliases
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ATP2B, DAR, DD, RHABDO2, SERCA2 |
ChromosomeChromosome number
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12 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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12q24.11 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of the skeletal muscle. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cyt |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs28929478 |
G>A |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs121912731 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
rs121912732 |
A>G |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs121912733 |
G>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs121912734 |
T>C |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs121912735 |
C>A,T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained, synonymous variant |
rs121912736 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs121912737 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs121912738 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs387906594 |
C>T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs757914881 |
G>A,T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, stop gained |
rs886041576 |
C>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
rs886041697 |
A>T |
Pathogenic |
Non coding transcript variant, initiator codon variant, missense variant |
rs886041748 |
AT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
rs1057518135 |
G>T |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs1057518457 |
A>C |
Likely-pathogenic |
Splice acceptor variant |
rs1057520577 |
G>A |
Pathogenic |
Splice acceptor variant |
rs1057520789 |
A>G |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs1064793900 |
C>T |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
rs1085307908 |
T>C |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs1085307960 |
T>C |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs1131691899 |
A>G,T |
Likely-pathogenic |
Non coding transcript variant, synonymous variant, missense variant, coding sequence variant |
rs1555282129 |
G>C |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs1555284765 |
A>G |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs1555285354 |
->AAGA |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, intron variant |
rs1566240208 |
ACA>- |
Pathogenic |
Inframe deletion, coding sequence variant, non coding transcript variant |
rs1592839705 |
G>A |
Pathogenic |
Splice donor variant |
rs1592864859 |
T>A |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs1592868802 |
C>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
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miRNAmiRNA information provided by mirtarbase database.
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Transcription factors
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0002026 |
Process |
Regulation of the force of heart contraction |
IEA |
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GO:0003009 |
Process |
Skeletal muscle contraction |
IEA |
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GO:0005388 |
Function |
Calcium transmembrane transporter activity, phosphorylative mechanism |
IBA |
21873635 |
GO:0005388 |
Function |
Calcium transmembrane transporter activity, phosphorylative mechanism |
IDA |
16402920 |
GO:0005509 |
Function |
Calcium ion binding |
IDA |
16402920 |
GO:0005515 |
Function |
Protein binding |
IPI |
17526652, 20528919, 22084111, 24764305, 25661196, 25996873, 28298427, 31735293 |
GO:0005524 |
Function |
ATP binding |
IEA |
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GO:0005783 |
Component |
Endoplasmic reticulum |
IDA |
16081076, 30188326 |
GO:0005789 |
Component |
Endoplasmic reticulum membrane |
IDA |
11402072 |
GO:0005789 |
Component |
Endoplasmic reticulum membrane |
TAS |
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GO:0005887 |
Component |
Integral component of plasma membrane |
TAS |
2844796 |
GO:0006874 |
Process |
Cellular calcium ion homeostasis |
IBA |
21873635 |
GO:0006874 |
Process |
Cellular calcium ion homeostasis |
IMP |
18068335 |
GO:0006984 |
Process |
ER-nucleus signaling pathway |
IEA |
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GO:0006996 |
Process |
Organelle organization |
IEA |
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GO:0007155 |
Process |
Cell adhesion |
TAS |
10080178 |
GO:0008544 |
Process |
Epidermis development |
TAS |
10080178 |
GO:0008553 |
Function |
Proton-exporting ATPase activity, phosphorylative mechanism |
IBA |
21873635 |
GO:0010460 |
Process |
Positive regulation of heart rate |
TAS |
22679139 |
GO:0010882 |
Process |
Regulation of cardiac muscle contraction by calcium ion signaling |
IBA |
21873635 |
GO:0012506 |
Component |
Vesicle membrane |
IEA |
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GO:0014883 |
Process |
Transition between fast and slow fiber |
IEA |
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GO:0014898 |
Process |
Cardiac muscle hypertrophy in response to stress |
IEA |
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GO:0016020 |
Component |
Membrane |
IDA |
22375059 |
GO:0016529 |
Component |
Sarcoplasmic reticulum |
IDA |
12804600 |
GO:0016887 |
Function |
ATPase activity |
IBA |
21873635 |
GO:0019899 |
Function |
Enzyme binding |
IPI |
21903937 |
GO:0031095 |
Component |
Platelet dense tubular network membrane |
TAS |
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GO:0031234 |
Component |
Extrinsic component of cytoplasmic side of plasma membrane |
IEA |
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GO:0031775 |
Function |
Lutropin-choriogonadotropic hormone receptor binding |
IEA |
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GO:0032469 |
Process |
Endoplasmic reticulum calcium ion homeostasis |
IDA |
16402920 |
GO:0032470 |
Process |
Positive regulation of endoplasmic reticulum calcium ion concentration |
IDA |
16402920 |
GO:0032496 |
Process |
Response to lipopolysaccharide |
IEA |
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GO:0032991 |
Component |
Protein-containing complex |
IEA |
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GO:0033017 |
Component |
Sarcoplasmic reticulum membrane |
IBA |
21873635 |
GO:0033017 |
Component |
Sarcoplasmic reticulum membrane |
TAS |
19095005 |
GO:0033292 |
Process |
T-tubule organization |
IEA |
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GO:0034220 |
Process |
Ion transmembrane transport |
TAS |
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GO:0034599 |
Process |
Cellular response to oxidative stress |
IEA |
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GO:0034605 |
Process |
Cellular response to heat |
IEA |
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GO:0034976 |
Process |
Response to endoplasmic reticulum stress |
ISS |
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GO:0044325 |
Function |
Ion channel binding |
IPI |
18068335 |
GO:0044548 |
Function |
S100 protein binding |
IPI |
12804600 |
GO:0045822 |
Process |
Negative regulation of heart contraction |
IEA |
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GO:0048471 |
Component |
Perinuclear region of cytoplasm |
IEA |
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GO:0055119 |
Process |
Relaxation of cardiac muscle |
IEA |
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GO:0061831 |
Component |
Apical ectoplasmic specialization |
IEA |
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GO:0070296 |
Process |
Sarcoplasmic reticulum calcium ion transport |
TAS |
19095005, 22679139 |
GO:0070588 |
Process |
Calcium ion transmembrane transport |
IBA |
21873635 |
GO:0070588 |
Process |
Calcium ion transmembrane transport |
IDA |
16402920 |
GO:0086036 |
Process |
Regulation of cardiac muscle cell membrane potential |
IC |
16402920 |
GO:0086036 |
Process |
Regulation of cardiac muscle cell membrane potential |
ISS |
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GO:0086036 |
Process |
Regulation of cardiac muscle cell membrane potential |
TAS |
22679139 |
GO:0086039 |
Function |
Calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential |
IBA |
21873635 |
GO:0086039 |
Function |
Calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential |
IC |
16402920 |
GO:0086039 |
Function |
Calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential |
ISS |
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GO:0086039 |
Function |
Calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential |
TAS |
22679139 |
GO:0097470 |
Component |
Ribbon synapse |
IEA |
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GO:0098909 |
Process |
Regulation of cardiac muscle cell action potential involved in regulation of contraction |
ISS |
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GO:0120025 |
Component |
Plasma membrane bounded cell projection |
IEA |
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GO:1900121 |
Process |
Negative regulation of receptor binding |
IMP |
18068335 |
GO:1902600 |
Process |
Proton transmembrane transport |
IEA |
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GO:1903233 |
Process |
Regulation of calcium ion-dependent exocytosis of neurotransmitter |
IEA |
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GO:1903515 |
Process |
Calcium ion transport from cytosol to endoplasmic reticulum |
IDA |
16402920 |
GO:1903779 |
Process |
Regulation of cardiac conduction |
TAS |
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GO:1990036 |
Process |
Calcium ion import into sarcoplasmic reticulum |
IC |
16402920 |
GO:1990036 |
Process |
Calcium ion import into sarcoplasmic reticulum |
ISS |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
P16615 |
Protein name |
Sarcoplasmic/endoplasmic reticulum calcium ATPase 2 (SERCA2) (SR Ca(2+)-ATPase 2) (EC 7.2.2.10) (Calcium pump 2) (Calcium-transporting ATPase sarcoplasmic reticulum type, slow twitch skeletal muscle isoform) (Endoplasmic reticulum class 1/2 Ca(2+) ATPase) |
Protein function |
This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen (PubMed:12542527, PubMed:16402920). Involved in autophagy in response to starvation. U |
PDB |
5ZTF
,
6JJU
,
6LLE
,
6LLY
,
6LN5
,
6LN6
,
6LN7
,
6LN8
,
6LN9
,
7BT2
,
7E7S
,
7W7T
,
7W7U
,
7W7V
,
7W7W
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00690 |
Cation_ATPase_N |
4 → 72 |
Cation transporter/ATPase, N-terminus |
Domain |
PF00122 |
E1-E2_ATPase |
121 → 329 |
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Family |
PF13246 |
Cation_ATPase |
418 → 527 |
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Family |
PF00689 |
Cation_ATPase_C |
783 → 986 |
Cation transporting ATPase, C-terminus |
Family |
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Sequence |
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Sequence length |
1042 |
Interactions |
View interactions |
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