Gene table of ATP7B : ATPase copper transporting beta

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ATP7B	OMIM link	Number of associated genes	genes
277900	WILSON DISEASE	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ATP7B

Download the gene annotation in CSV format

Annotation of the gene ATP7B

Associated genes in ENSEMBL

ENSG00000123191

Associated proteins - SwissProt Accession ID

P35670

Associated PDB IDs

Cytogenetic Band

13q14.3

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Ion channel transport	R-HSA-983712	5.34
Ion transport by P-type ATPases	R-HSA-936837	7.46
Transmembrane transport of small molecules	R-HSA-382551	3.79

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
binding	GO:0005488	0.18
ATPase activity	GO:0016887	3.65
nucleotide binding	GO:0000166	1.96
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
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
transition metal ion binding	GO:0046914	2.48
transition metal ion transmembrane transporter activity	GO:0046915	6.05
ion binding	GO:0043167	1.36
primary active transmembrane transporter activity	GO:0015399	4.98
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
metal ion transmembrane transporter activity	GO:0046873	3.71
copper ion binding	GO:0005507	5.71
active transmembrane transporter activity	GO:0022804	3.85
hydrolase activity	GO:0016787	1.9
copper-exporting ATPase activity	GO:0004008	9.05
protein binding	GO:0005515	0.46
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
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
substrate-specific transporter activity	GO:0022892	2.72
copper-transporting ATPase activity	GO:0043682	9.05
copper ion transmembrane transporter activity	GO:0005375	7.95
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
metal ion binding	GO:0046872	1.41
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
ATPase activity, coupled	GO:0042623	3.97
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
active ion transmembrane transporter activity	GO:0022853	5.06
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
zinc ion binding	GO:0008270	2.66