Gene table of ATP6V1B2 : ATPase H+ transporting V1 subunit B2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ATP6V1B2	OMIM link	Number of associated genes	genes
PS135500	ZIMMERMANN-LABAND SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	KCNH1, ATP6V1B2

Download the gene annotation in CSV format

Annotation of the gene ATP6V1B2

Associated genes in ENSEMBL

ENSG00000147416

Associated proteins - SwissProt Accession ID

P21281

Associated PDB IDs

Cytogenetic Band

8p21.3

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Epithelial cell signaling in Helicobacter pylori infection	hsa05120	6.58
Collecting duct acid secretion	hsa04966	7.91
Oxidative phosphorylation	hsa00190	5.69
Rheumatoid arthritis	hsa05323	6.05
Metabolic pathways	hsa01100	2.49
Synaptic vesicle cycle	hsa04721	6.74
Phagosome	hsa04145	5.27
Vibrio cholerae infection	hsa05110	6.86

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Infectious disease	R-HSA-5663205	4.47
Phagosomal maturation (early endosomal stage)	R-HSA-1222556	7.89
Ion channel transport	R-HSA-983712	5.34
Transmembrane transport of small molecules	R-HSA-382551	3.79
Transferrin endocytosis and recycling	R-HSA-917977	8.12
Iron uptake and transport	R-HSA-917937	7.56
Latent infection of Homo sapiens with Mycobacterium tuberculosis	R-HSA-1222352	7.89
Insulin receptor recycling	R-HSA-77387	8.28
Signal Transduction	R-HSA-162582	1.78
Signaling by Insulin receptor	R-HSA-74752	4.73
Disease	R-HSA-1643685	3.33

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
hydrogen-exporting ATPase activity	GO:0036442	6.44
binding	GO:0005488	0.18
ATPase activity	GO:0016887	3.65
purine nucleoside binding	GO:0001883	2.22
heterocyclic compound binding	GO:1901363	1.06
purine ribonucleoside binding	GO:0032550	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
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
nucleotide binding	GO:0000166	1.96
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
ATP binding	GO:0005524	2.43
hydrolase activity	GO:0016787	1.9
protein binding	GO:0005515	0.46
transporter activity	GO:0005215	2.57
cation transmembrane transporter activity	GO:0008324	3.32
nucleoside-triphosphatase activity	GO:0017111	3.09
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
proton-transporting ATPase activity, rotational mechanism	GO:0046961	6.6
ATPase activity, coupled to transmembrane movement of ions, rotational mechanism	GO:0044769	6.48
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
hydrogen ion transmembrane transporter activity	GO:0015078	5.01
adenyl ribonucleotide binding	GO:0032559	2.41
active transmembrane transporter activity	GO:0022804	3.85
active ion transmembrane transporter activity	GO:0022853	5.06
purine ribonucleotide binding	GO:0032555	2.2
P-P-bond-hydrolysis-driven transmembrane transporter activity	GO:0015405	4.98
ribonucleotide binding	GO:0032553	2.19