Preferred Label : TCIRG1 wt Allele;
NCIt synonyms : T Cell Immune Regulator 1 Gene; Atp6i; a3; T-Cell, Immune Regulator 1, ATPase, H Transporting, Lysosomal V0 Subunit A3 Gene; T Cell Immune Regulator 1, ATPase H Transporting V0 Subunit A3 wt Allele; Stv1; Vacuolar Proton Pump, Alpha Subunit 3 Gene; OC116; T-Cell, Immune Regulator 1, ATPase, H Transporting, Lysosomal V0 Protein A Gene; OPTB1; ATP6V0A3; ATP6N1C; T-Cell Immune Regulator 1, ATPase H Transporting V0 Subunit A3 Gene; ATPase, H Transporting, Lysosomal, V0 Subunit A3 Gene; OC-116kDa; TIRC7; T-Cell, Immune Regulator 1 Gene; Vph1; ATPase, H Transporting, 116kD Gene; T-Cell, Immune Regulator 1, ATPase, H Transporting, Lysosomal V0 Protein A Isoform
3 Gene;
NCIt definition : Human TCIRG1 wild-type allele is located in the vicinity of 11q13.2 and is approximately
15 kb in length. This allele, which encodes V-type proton ATPase 116 kDa subunit a
3 protein, is involved in proton pump activity. Mutations in this gene are associated
with infantile malignant osteopetrosis.;
NCIt note : Alternative splicing of the TCIRG1 gene results in multiple transcript variants.;
NCI Metathesaurus CUI : CL1773742;
GenBank Accession Number : AF025374;
Origin ID : C185449;
UMLS CUI : C5575369;
Automatic exact mappings (from CISMeF team)
- OMIM relation
- Semantic type(s)
- concept_is_in_subset
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
