Human Gene TAP2 (uc011hev.1) Description and Page Index
  Description: Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.
RefSeq Summary (NM_018833): 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_hap4:4,246,806-4,263,744 Size: 16,939 Total Exon Count: 12 Strand: -
Coding Region
   Position: chr6_mann_hap4:4,247,262-4,263,205 Size: 15,944 Coding Exon Count: 11 

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
  ID: Q9UP03_HUMAN
DESCRIPTION: SubName: Full=Transporter 2 isoform; SubName: Full=Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP), isoform CRA_a;
SIMILARITY: Belongs to the ABC transporter superfamily.

-  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)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  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
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -54.80122-0.449 Picture PostScript Text
3' UTR -113.33456-0.249 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003593 - AAA+_ATPase
IPR011527 - ABC1_TM_dom
IPR013306 - ABC_B3
IPR003439 - ABC_transporter-like
IPR017871 - ABC_transporter_CS
IPR001140 - ABC_transptr_TM_dom
IPR005293 - Ag_transporter2
IPR027417 - P-loop_NTPase

Pfam Domains:
PF00005 - ABC transporter
PF00664 - ABC transporter transmembrane region

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases
53795 - PEP carboxykinase-like
90123 - Multidrug resistance ABC transporter MsbA, N-terminal domain

ModBase Predicted Comparative 3D Structure on Q9UP03
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
AF152583 - Homo sapiens unknown mRNA.
AF105151 - Homo sapiens Tap2 transporter isoform (TAP2) mRNA, complete cds.
AF078671 - Homo sapiens transporter 2 isoform (TAP2) mRNA, complete cds.
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
  Alternate Gene Symbols: DAAP-57C1.2-002, DADB-78A10.1-002, DAMA-353C16.1-002, DAQB-69D7.2-002, DASS-193J13.1-002, hCG_2001583, NM_018833, NP_061313, Q9UP03, Q9UP03_HUMAN
UCSC ID: uc011hev.1
RefSeq Accession: NM_018833
Protein: Q9UP03

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_018833.2
exon count: 12CDS single in 3' UTR: no RNA size: 2540
ORF size: 1962CDS single in intron: no Alignment % ID: 99.96
txCdsPredict score: 3630.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 8
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.