Gene table of ATP2A2 : ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ATP2A2	OMIM link	Number of associated genes	genes
124200	DARIER-WHITE DISEASE	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ATP2A2
101900	ACROKERATOSIS VERRUCIFORMIS	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ATP2A2

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Annotation of the gene ATP2A2

Associated genes in ENSEMBL

ENSG00000174437

Associated proteins - SwissProt Accession ID

P16615

Associated PDB IDs

Cytogenetic Band

12q24.11

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Pancreatic secretion	hsa04972	6.07
cGMP-PKG signaling pathway	hsa04022	5.32
Alzheimer's disease	hsa05010	5.34
Calcium signaling pathway	hsa04020	5.22
cAMP signaling pathway	hsa04024	5.05
Dilated cardiomyopathy	hsa05414	6.08
Hypertrophic cardiomyopathy (HCM)	hsa05410	6.21
Arrhythmogenic right ventricular cardiomyopathy (ARVC)	hsa05412	6.32
Thyroid hormone signaling pathway	hsa04919	5.82
Cardiac muscle contraction	hsa04260	6.34
Adrenergic signaling in cardiomyocytes	hsa04261	5.44

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Pre-NOTCH Expression and Processing	R-HSA-1912422	7.49
Ion channel transport	R-HSA-983712	5.34
Platelet calcium homeostasis	R-HSA-418360	8.73
Ion transport by P-type ATPases	R-HSA-936837	7.46
Transmembrane transport of small molecules	R-HSA-382551	3.79
Platelet homeostasis	R-HSA-418346	6.68
Pre-NOTCH Processing in Golgi	R-HSA-1912420	8.81
Reduction of cytosolic Ca++ levels	R-HSA-418359	9.66
Signaling by NOTCH	R-HSA-157118	6.2
Hemostasis	R-HSA-109582	3.98
Signal Transduction	R-HSA-162582	1.78

Associated GO terms for Molecular function

GO term	GO ID	GO IC
protein C-terminus binding	GO:0008022	4.5
calcium ion transmembrane transporter activity	GO:0015085	4.89
	GO:0031775	9.74
purine ribonucleoside triphosphate binding	GO:0035639	2.22
enzyme binding	GO:0019899	2.27
binding	GO:0005488	0.18
ATPase activity	GO:0016887	3.65
G-protein coupled receptor binding	GO:0001664	4.18
divalent inorganic cation transmembrane transporter activity	GO:0072509	4.62
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
ATPase coupled ion transmembrane transporter activity	GO:0042625	5.46
ATPase activity, coupled to transmembrane movement of substances	GO:0042626	5.06
hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances	GO:0016820	5.03
calcium-transporting ATPase activity	GO:0005388	7.44
pyrophosphatase activity	GO:0016462	3.04
S100 protein binding	GO:0044548	7.17
nucleotide binding	GO:0000166	1.96
primary active transmembrane transporter activity	GO:0015399	4.98
calcium ion binding	GO:0005509	3.17
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
metal ion transmembrane transporter activity	GO:0046873	3.71
metal ion binding	GO:0046872	1.41
ATP binding	GO:0005524	2.43
hydrolase activity	GO:0016787	1.9
active ion transmembrane transporter activity	GO:0022853	5.06
cation binding	GO:0043169	1.4
transporter activity	GO:0005215	2.57
cation transmembrane transporter activity	GO:0008324	3.32
nucleoside-triphosphatase activity	GO:0017111	3.09
nucleoside phosphate binding	GO:1901265	1.96
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
receptor binding	GO:0005102	2.43
substrate-specific transmembrane transporter activity	GO:0022891	2.9
inorganic cation transmembrane transporter activity	GO:0022890	3.49
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
substrate-specific transporter activity	GO:0022892	2.72
ATPase activity, coupled	GO:0042623	3.97
ion binding	GO:0043167	1.36
	GO:0086039	9.74
organic cyclic compound binding	GO:0097159	1.05
ATPase activity, coupled to movement of substances	GO:0043492	4.93
adenyl nucleotide binding	GO:0030554	2.4
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
cation-transporting ATPase activity	GO:0019829	5.64
ion transmembrane transporter activity	GO:0015075	3.04
carbohydrate derivative binding	GO:0097367	2.03
transmembrane transporter activity	GO:0022857	2.82
purine ribonucleoside binding	GO:0032550	2.22
adenyl ribonucleotide binding	GO:0032559	2.41
active transmembrane transporter activity	GO:0022804	3.85
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	GO:0015662	6.24
P-P-bond-hydrolysis-driven transmembrane transporter activity	GO:0015405	4.98
ribonucleotide binding	GO:0032553	2.19