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 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDMicroarray
RNA StructureProtein StructureOther SpeciesmRNA DescriptionsPathwaysOther Names
Model InformationMethods
Data last updated: 2013-06-14

+  Sequence and Links to Tools and Databases
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+  Comments and Description Text from UniProtKB
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-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database: TAP2
CDC HuGE Published Literature: TAP2
Positive Disease Associations: cystic fibrosis , dermatitis, atopic , Diabetes Mellitus, Type 1 , diabetes, type 1 , familial bronchiectasis. , Graves' disease , hepatitis C , HIV , inflammatory urogenital disease , Leprosy , liver disease , Lupus , lupus erythematosus , Multiple Sclerosis , pemphigus , psoriasis , rheumatoid arthritis , Sjogren's syndrome
Related Studies:
  1. 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. [PubMed 12026214]
    We demonstrated that TAP genes might have modifying effects on the CF phenotype.
  2. 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. [PubMed 11737038]
    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.
  3. Diabetes Mellitus, Type 1
    , , . [PubMed 0]
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+  Comparative Toxicogenomics Database (CTD)
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-  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
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GNF Expression Atlas 1 Human Data on Affy U95 Chips

      
    
     
      
    
    
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+  mRNA Secondary Structure of 3' and 5' UTRs
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+  Protein Domain and Structure Information
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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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
Jackson LabRGD    
Protein Sequence     
Alignment     

-  Descriptions from all associated GenBank mRNAs
  AK299603 - Homo sapiens cDNA FLJ57033 complete cds, highly similar to Antigen peptide transporter 2.
AF105151 - Homo sapiens Tap2 transporter isoform (TAP2) mRNA, complete cds.
AF078671 - Homo sapiens transporter 2 isoform (TAP2) mRNA, complete cds.
AL833658 - Homo sapiens mRNA; cDNA DKFZp667B0421 (from clone DKFZp667B0421).
AB208953 - Homo sapiens mRNA for transporter 2, ATP-binding cassette, sub-family B isoform 1 variant protein.
AK223300 - Homo sapiens mRNA for transporter 2, ATP-binding cassette, sub-family B isoform 1 variant, clone: SYN03629.
AK225693 - Homo sapiens mRNA for transporter 2, ATP-binding cassette, sub-family B isoform 1 variant, clone: SYN03629.
BC002751 - Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP), mRNA (cDNA clone IMAGE:3627670).
AK225657 - Homo sapiens mRNA for transporter 2, ATP-binding cassette, sub-family B isoform 2 variant, clone: STM04094.
M84748 - Human MHC class II gene.
M74447 - Human PSF-2 mRNA, complete cds.
Z22936 - H.sapiens TAP2E mRNA, complete CDS.
AK222823 - Homo sapiens mRNA for transporter 2, ATP-binding cassette, sub-family B isoform 1 variant, clone: HEP06295.
U07844 - Human ABC transport protein (TAP2) mRNA, partial cds.
AK292963 - Homo sapiens cDNA FLJ77215 complete cds, highly similar to Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP), mRNA.
BC152839 - Synthetic construct Homo sapiens clone IMAGE:100016120, MGC:184183 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2) mRNA, encodes complete protein.
AB073779 - Homo sapiens TAP2 mRNA for ABC-transporter, complete cds.
Z22935 - H.sapiens TAP2B mRNA, complete CDS.
AB384795 - Synthetic construct DNA, clone: pF1KB3348, Homo sapiens TAP2 gene for antigen peptide transporter 2, complete cds, without stop codon, in Flexi system.
BT009906 - Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) mRNA, complete cds.
FM246456 - Homo sapiens mRNA for truncated antigen peptide transporter 2, TAP2*0101 mutated allele.
EU832685 - Synthetic construct Homo sapiens clone HAIB:100067714; DKFZo004A0932 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) protein (TAP2) gene, encodes complete protein.
AF176984 - Homo sapiens TAP2 protein (TAP2-G) mRNA, TAP2-G-*0104 allele, partial cds.
L09191 - Human HLA class II antigen processing associated transporter (TAP2) mRNA, partial cds.
L09271 - Homo sapiens antigen processing protein (TAP2) mRNA fragment located in the HLA class II region.
L10287 - Human HLA class II antigen processing associated transporter (TAP2) mRNA, partial cds.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa02010 - ABC transporters
hsa04612 - Antigen processing and presentation
hsa05340 - Primary immunodeficiency

BioCarta from NCI Cancer Genome Anatomy Project
h_mhcPathway - Antigen Processing and Presentation

+  Other Names for This Gene
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+  Gene Model Information
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+  Methods, Credits, and Use Restrictions
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