TAP2

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Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
Identifiers
Symbols TAP2 ; ABC18; ABCB3; APT2; D6S217E; PSF-2; PSF2; RING11
External IDs OMIM170261 MGI98484 HomoloGene37323 GeneCards: TAP2 Gene
RNA expression pattern
PBB GE TAP2 204769 s at tn.png
PBB GE TAP2 204770 at tn.png
PBB GE TAP2 208428 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6891 21355
Ensembl ENSG00000204267 ENSMUSG00000024339
UniProt Q03519 P36371
RefSeq (mRNA) NM_000544 NM_011530
RefSeq (protein) NP_000535 NP_035660
Location (UCSC) Chr 6:
32.79 – 32.81 Mb
Chr 17:
34.2 – 34.22 Mb
PubMed search [1] [2]

TAP2 is a gene in humans that encodes the protein Antigen peptide transporter 2.[1][2][3]

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. This gene is located 7 kb telomeric to gene family member ABCB2 (TAP1). The protein encoded by this gene is involved in antigen presentation. This protein forms a heterodimer with ABCB2 in order to transport peptides from the cytoplasm to the endoplasmic reticulum. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, schizophrenia,[4] and celiac disease. Alternative splicing of this gene produces two products which differ in peptide selectivity and level of restoration of surface expression of MHC class I molecules.[5]

See also[edit]

References[edit]

  1. ^ Bodmer JG, Marsh SG, Albert ED, Bodmer WF, Dupont B, Erlich HA, Mach B, Mayr WR, Parham P (Oct 1992). "Nomenclature for factors of the HLA system, 1991. WHO Nomenclature Committee for factors of the HLA system". Tissue Antigens 39 (4): 161–73. PMID 1529427. 
  2. ^ Bahram S, Arnold D, Bresnahan M, Strominger JL, Spies T (Dec 1991). "Two putative subunits of a peptide pump encoded in the human major histocompatibility complex class II region". Proc Natl Acad Sci U S A 88 (22): 10094–8. doi:10.1073/pnas.88.22.10094. PMC 52874. PMID 1946428. 
  3. ^ Hahn Y, Lee B (Feb 2006). "Human-specific nonsense mutations identified by genome sequence comparisons". Hum Genet 119 (1–2): 169–78. doi:10.1007/s00439-005-0125-6. PMID 16395595. 
  4. ^ Yu H. Protein-interaction-network-based analysis for genome-wide association analysis of schizophrenia in Han Chinese population. 
  5. ^ "Entrez Gene: TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)". 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.