Preferred Label : TAP2 wt Allele;
NCIt synonyms : PSF2; Transporter 2, ATP-Binding Cassette, Sub-Family B (MDR/TAP) wt Allele; RING11; APT2; ABCB3; ABC18; TAP2; D6S217E; Transporter 2, ABC (ATP Binding Cassette) Gene; Transporter, ATP-Binding Cassette, Major Histocompatibility Complex, 2 Gene; ATP-Binding Cassette Transporter, Major Histocompatibility Complex, 2 Gene; ABC Transporter, MHC 2 Gene; ATP-Binding Cassette, Subfamily B, Member 3 Gene; Transporter 2, ATP-Binding Cassette, Sub-Family B Gene; Y1; Really Interesting New Gene 11; PSF-2; ABC Transporter, MHC, 2 Gene;
NCIt definition : Human TAP2 wild-type allele is located in the vicinity of 6p21.3 and is approximately
9 kb in length. This allele, which encodes antigen peptide transporter 1 protein,
plays a role in the modulation of the conformation and the activity of major histocompatibiltiy
complex class I proteins. Mutations in this gene are associated with bare lymphocyte
syndrome and rheumatoid arthritis.;
GenBank Accession Number : NM_000544;
Origin ID : C52306;
UMLS CUI : C1704920;
OMIM relation
- Semantic type(s)
- concept_is_in_subset
- gene_associated_with_disease
- gene_found_in_organism
- gene_has_physical_location
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
