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), transporter 2, ATP binding cassette subfamily B member
External IDs MGI: 98484 HomoloGene: 37323 GeneCards: TAP2
Gene location (Human)
Chromosome 6 (human)
Chr. Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for TAP2
Genomic location for TAP2
Band 6p21.32 Start 32,821,833 bp[1]
End 32,838,780 bp[1]
RNA expression pattern
PBB GE TAP2 208428 at fs.png

PBB GE TAP2 204770 at fs.png

PBB GE TAP2 204769 s at fs.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
NP_001276972
NP_061313

NP_035660

Location (UCSC) Chr 6: 32.82 – 32.84 Mb Chr 6: 34.2 – 34.22 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

TAP2 is a gene in humans that encodes the protein Antigen peptide transporter 2.[5][6][7]

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,[8] 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.[9]

See also[edit]

References[edit]

  1. ^ a b c ENSG00000206299, ENSG00000228582, ENSG00000206235, ENSG00000225967, ENSG00000237599, ENSG00000223481, ENSG00000232326 GRCh38: Ensembl release 89: ENSG00000204267, ENSG00000206299, ENSG00000228582, ENSG00000206235, ENSG00000225967, ENSG00000237599, ENSG00000223481, ENSG00000232326 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024339 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ 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. PMID 1529427. doi:10.1111/j.1399-0039.1992.tb01932.x. 
  6. ^ 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. PMC 52874Freely accessible. PMID 1946428. doi:10.1073/pnas.88.22.10094. 
  7. ^ Hahn Y, Lee B (Feb 2006). "Human-specific nonsense mutations identified by genome sequence comparisons". Hum Genet. 119 (1–2): 169–78. PMID 16395595. doi:10.1007/s00439-005-0125-6. 
  8. ^ Yu H. "Protein-interaction-network-based analysis for genome-wide association analysis of schizophrenia in Han Chinese population.". 
  9. ^ "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.