Human Gene TAP2 (uc011hex.2) Description and Page Index
Description: Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 1, mRNA. RefSeq Summary (NM_000544): 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. 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, and celiac disease. Alternative splicing of this gene produces products which differ in peptide selectivity and level of restoration of surface expression of MHC class I molecules. [provided by RefSeq, Feb 2014]. Transcript (Including UTRs) Position: chr6_mann_hap4:4,250,382-4,263,744 Size: 13,363 Total Exon Count: 13 Strand: - Coding Region Position: chr6_mann_hap4:4,253,827-4,263,205 Size: 9,379 Coding Exon Count: 12
cystic fibrosis Ozbas-Gerceker, F. et al. 2002, Analysis of the modifying effects of TAP 1/2 genes on cystic fibrosis phenotype., The Turkish journal of pediatrics. 2002 Apr-Jun;44(2):91-7.
We demonstrated that TAP genes might have modifying effects on the CF phenotype.
dermatitis, atopic Lee, H. J. et al. 2001, Distribution of HLA-A, B alleles and polymorphisms of TAP and LMP genes in Korean patients with atopic dermatitis, Clinical and experimental allergy. 2001 Dec;31(12):1867-74.
This study demonstrates an association of atopic dermatitis with HLA-A24 and TAP2*C alleles in Korean patients. Discrepancy with the previous reports might be related to different patient characteristics and ethnic variations.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q59H06
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.