TAP2

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TAP2
Identifiers
Aliases TAP2, ABC18, ABCB3, APT2, D6S217E, PSF-2, PSF2, RING11, transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
External IDs MGI: 98484 HomoloGene: 37323 GeneCards: 6891
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
Ensembl
UniProt
RefSeq (mRNA)

NM_018833
NM_000544
NM_001290043

NM_011530

RefSeq (protein)

NP_000535.3
NP_001276972.1
NP_061313.2

NP_035660.3

Location (UCSC) Chr 6: 32.82 – 32.84 Mb Chr 17: 34.2 – 34.22 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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

Function[edit]

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, Sasazuki T (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. doi:10.1111/j.1399-0039.1992.tb01932.x. 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.