TAP2

Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
Identifiers
Symbols TAP2 ; ABC18; ABCB3; APT2; D6S217E; PSF-2; PSF2; RING11
External IDs OMIM: 170261 MGI: 98484 HomoloGene: 37323 GeneCards: TAP2 Gene
RNA expression pattern
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:
32.82 – 32.84 Mb
Chr 17:
34.2 – 34.22 Mb
PubMed search

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

Function

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

References

  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

External links

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


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