Gene table of TCIRG1 : T-cell immune regulator 1, ATPase H+ transporting V0 subunit a3

Gene-disease associations table

Disease ID	Disease name	Source of annotation with TCIRG1	OMIM link	Number of associated genes	genes
PS259700	OSTEOPETROSIS, AUTOSOMAL RECESSIVE	ClinVar, OMIM, HUMSAVAR	link to OMIM	8	TNFRSF11A, TNFSF11, SNX10, PLEKHM1, CA2, CLCN7, OSTM1, TCIRG1

Download the gene annotation in CSV format

Annotation of the gene TCIRG1

Associated genes in ENSEMBL

ENSG00000110719

Associated proteins - SwissProt Accession ID

Q13488

Associated PDB IDs

Cytogenetic Band

11q13.2

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
Lysosome	hsa04142	5.78
Phagosome	hsa04145	5.27
Tuberculosis	hsa05152	5.17
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
hydrogen-exporting ATPase activity	GO:0036442	6.44
enzyme binding	GO:0019899	2.27
binding	GO:0005488	0.18
ATPase activity	GO:0016887	3.65
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
transmembrane transporter activity	GO:0022857	2.82
primary active transmembrane transporter activity	GO:0015399	4.98
transporter activity	GO:0005215	2.57
active transmembrane transporter activity	GO:0022804	3.85
hydrolase activity	GO:0016787	1.9
active ion transmembrane transporter activity	GO:0022853	5.06
ATPase binding	GO:0051117	5.41
cation transmembrane transporter activity	GO:0008324	3.32
nucleoside-triphosphatase activity	GO:0017111	3.09
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
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
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
hydrogen ion transmembrane transporter activity	GO:0015078	5.01
protein binding	GO:0005515	0.46
P-P-bond-hydrolysis-driven transmembrane transporter activity	GO:0015405	4.98