Gene table of ATP2B3 : ATPase plasma membrane Ca2+ transporting 3

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ATP2B3	OMIM link	Number of associated genes	genes
302500	SPINOCEREBELLAR ATAXIA, X-LINKED 1	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ATP2B3

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Annotation of the gene ATP2B3

Associated genes in ENSEMBL

ENSG00000067842

Associated proteins - SwissProt Accession ID

Q16720

Associated PDB IDs

Cytogenetic Band

Xq28

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Salivary secretion	hsa04970	6.23
Pancreatic secretion	hsa04972	6.07
cGMP-PKG signaling pathway	hsa04022	5.32
Calcium signaling pathway	hsa04020	5.22
cAMP signaling pathway	hsa04024	5.05
Adrenergic signaling in cardiomyocytes	hsa04261	5.44

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
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
Reduction of cytosolic Ca++ levels	R-HSA-418359	9.66
Hemostasis	R-HSA-109582	3.98

Associated GO terms for Molecular function

GO term	GO ID	GO IC
hydrolase activity	GO:0016787	1.9
purine ribonucleoside triphosphate binding	GO:0035639	2.22
cation binding	GO:0043169	1.4
binding	GO:0005488	0.18
ATPase activity	GO:0016887	3.65
nucleotide binding	GO:0000166	1.96
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
ATPase activity, coupled	GO:0042623	3.97
ion binding	GO:0043167	1.36
primary active transmembrane transporter activity	GO:0015399	4.98
nucleoside phosphate binding	GO:1901265	1.96
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
active transmembrane transporter activity	GO:0022804	3.85
calmodulin binding	GO:0005516	4.55
divalent inorganic cation transmembrane transporter activity	GO:0072509	4.62
active ion transmembrane transporter activity	GO:0022853	5.06
calcium ion transmembrane transporter activity	GO:0015085	4.89
transporter activity	GO:0005215	2.57
cation transmembrane transporter activity	GO:0008324	3.32
nucleoside-triphosphatase activity	GO:0017111	3.09
P-P-bond-hydrolysis-driven transmembrane transporter activity	GO:0015405	4.98
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
PDZ domain binding	GO:0030165	5.22
protein domain specific binding	GO:0019904	3.32
calcium-transporting ATPase activity	GO:0005388	7.44
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
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
ATPase activity, coupled to movement of substances	GO:0043492	4.93
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
pyrophosphatase activity	GO:0016462	3.04
transmembrane transporter activity	GO:0022857	2.82
adenyl ribonucleotide binding	GO:0032559	2.41
ATP binding	GO:0005524	2.43
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
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19