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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TAP2 Gene

protein-coding   GIFtS: 60
GCID: GC06M032789

transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)


(Previous symbol: ABCB3)
 Explore 93 diseases affiliated with
TAP2 via our new
 Human Malady Compendium 
Biological research products
for TAP2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Transporter 2, ATP-Binding Cassette, Sub-Family B (MDR/TAP)1 2     PSF-22 3
ABCB31 2 3 5     ABC182
PSF21 2 3 5     ABC Transporter, MHC 22
RING111 2 3 5     Antigen Peptide Transporter 22
D6S217E1 2     ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 32
Peptide Supply Factor 22 3     Transporter 2, ABC (ATP Binding Cassette)2
Peptide Transporter Involved In Antigen Processing 22 3     Y13
Peptide Transporter PSF22 3     ATP-Binding Cassette Sub-Family B Member 33
Really Interesting New Gene 11 Protein2 3     Peptide Transporter TAP23
APT22 3     

External Ids:    HGNC: 441   Entrez Gene: 68912   Ensembl: ENSG000002042677   OMIM: 1702615   UniProtKB: Q035193   

Export aliases for TAP2 gene to outside databases

Previous GC identifers: GC06M032786 GC06M032560 GC06M032837 GC06M032838 GC06M032897 GC06M032783 GC06M032531


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TAP2:
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 two products which differ in peptide selectivity and level of
restoration of surface expression of MHC class I molecules. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: TAP2_HUMAN, Q03519
Function: Involved in the transport of antigens from the cytoplasm to the endoplasmic reticulum for association with
MHC class I molecules. Also acts as a molecular scaffold for the final stage of MHC class I folding, namely the
binding of peptide. Nascent MHC class I molecules associate with TAP via tapasin. Inhibited by the covalent attachment
of herpes simplex virus ICP47 protein, which blocks the peptide-binding site of TAP. Inhibited by human
cytomegalovirus US6 glycoprotein, which binds to the lumenal side of the TAP complex and inhibits peptide
translocation by specifically blocking ATP-binding to TAP1 and prevents the conformational rearrangement of TAP
induced by peptide binding. Inhibited by human adenovirus E3-19K glycoprotein, which binds the TAP complex and acts as
a tapasin inhibitor, preventing MHC class I/TAP association

Gene Wiki entry for TAP2


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_007592.15  NT_113891.2  NT_167244.1  NT_167245.1  NT_167246.1  NT_167247.1  
NT_167248.1  NT_167249.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TAP2 gene promoter:
         AML1a   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTAP2 promoter sequence
   Search SABiosciences Chromatin IP Primers for TAP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TAP2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.32   HGNC cytogenetic band: 6p21.3

TAP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TAP2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M032789:  view genomic region     (about GC identifiers)

Start:
32,789,610 bp from pter      End:
32,806,557 bp from pter
Size:
16,948 bases      Orientation:
minus strand

6/7 alternative locations (see all 7):
Chr6-,ALT_REF_LOCI_2 32,703,870-32,768,059      Chr6-,ALT_REF_LOCI_3 32,759,673-32,795,564      Chr6-,ALT_REF_LOCI_5 32,737,929-32,754,845     
Chr6-,ALT_REF_LOCI_4 32,866,465-32,883,403      Chr6-,ALT_REF_LOCI_1 32,765,310-32,798,452      Chr6-,ALT_REF_LOCI_6 32,718,320-32,770,839     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TAP2_HUMAN, Q03519 (See protein sequence)
Recommended Name: Antigen peptide transporter 2  
Size: 686 amino acids; 75664 Da
Subunit: Heterodimer of TAP1 and TAP2. Interacts with Epstein-Barr virus BLNF2a
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=The transmembrane segments seem
to form a pore in the membrane
Secondary accessions: B0V2J8 O95410 Q53FI6 Q5HY71 Q96PT8 Q9UQ83
Alternative splicing: 2 isoforms:  Q03519-1   Q03519-2   

Explore the universe of human proteins at neXtProt for TAP2: NX_Q03519

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q03519

  • TAP2 Protein expression data from MOPED and PaxDb:    About this image 
    TAP2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000535.3  NP_061313.2  

    ENSEMBL proteins: 
     ENSP00000364034   ENSP00000364032  
    Reactome Protein details: Q03519
    Human Recombinant Protein Products for TAP2: 
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    Uscn Proteins for TAP2

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005743NOT mitochondrial inner membrane IRD--
    GO:0005783endoplasmic reticulum IDA--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005886plasma membrane IBA--

    TAP2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TAP2 for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR013306 ABC_B3
     IPR003439 ABC_transporter-like
     IPR005293 Ag_transporter2
     IPR001140 ABC_transptr_TM_dom
     IPR003593 AAA+_ATPase

    Graphical View of Domain Structure for InterPro Entry Q03519

    ProtoNet protein and cluster: Q03519

    UniProtKB/Swiss-Prot: TAP2_HUMAN, Q03519
    Domain: The peptide-binding site is shared between the cytoplasmic loops of TAP1 and TAP2
    Similarity: Belongs to the ABC transporter superfamily. ABCB family. MHC peptide exporter (TC 3.A.1.209) subfamily
    Similarity: Contains 1 ABC transmembrane type-1 domain
    Similarity: Contains 1 ABC transporter domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TAP2_HUMAN, Q03519
    Function: Involved in the transport of antigens from the cytoplasm to the endoplasmic reticulum for association with
    MHC class I molecules. Also acts as a molecular scaffold for the final stage of MHC class I folding, namely the
    binding of peptide. Nascent MHC class I molecules associate with TAP via tapasin. Inhibited by the covalent attachment
    of herpes simplex virus ICP47 protein, which blocks the peptide-binding site of TAP. Inhibited by human
    cytomegalovirus US6 glycoprotein, which binds to the lumenal side of the TAP complex and inhibits peptide
    translocation by specifically blocking ATP-binding to TAP1 and prevents the conformational rearrangement of TAP
    induced by peptide binding. Inhibited by human adenovirus E3-19K glycoprotein, which binds the TAP complex and acts as
    a tapasin inhibitor, preventing MHC class I/TAP association
    Induction: By IFNG/IFN-gamma

         Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity IDA10835348
    GO:0005515protein binding IPI17055437
    GO:0005524ATP binding IDA7673167
    GO:0015197contributes to peptide transporter activity IGI7673167
    GO:0015421oligopeptide-transporting ATPase activity IBA--
         
    TAP2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for TAP2:
     Increased Salmonella enterica   Synthetic lethal with Ras  Synthetic lethal with paclitax 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Tap2):
     hematopoietic system  immune system 

    TAP2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for TAP2 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidTAP2 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Immune System
    Immune System1.00
    Adaptive Immune System0.59
    2Immune response Antigen presentation by MHC class I
    Immune response Antigen presentation by MHC class I1.00
    Immune response_Antigen presentation by MHC class I0.92
    3Ubiquitinated Orc1 is degraded by the proteasome
    ER-Phagosome pathway0.74
    Antigen processing-Cross presentation0.60
    4Primary immunodeficiency
    Primary immunodeficiency1.00
    5Phagosome
    Phagosome1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for TAP2
        Immune response Antigen presentation by MHC class I


    1 GeneGo (Thomson Reuters) Pathway for TAP2
        Immune response Antigen presentation by MHC class I

    5/6        Reactome Pathways for TAP2 (see all 6)
        Antigen Presentation: Folding, assembly and peptide loading of class I MHC
    Antigen processing-Cross presentation
    Adaptive Immune System
    Class I MHC mediated antigen processing & presentation
    ER-Phagosome pathway


    4         Kegg Pathways  (Kegg details for TAP2):
        ABC transporters
    Phagosome
    Antigen processing and presentation
    Primary immunodeficiency


    TAP2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TAP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/18 Interacting proteins for TAP2 (Q035191, 2, 3 ENSP000003640344) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TAPBPO155331, 3EBI-780781,EBI-874801 I2D: score=4 
    TAP1Q035181, 2, 3, ENSP000003462064EBI-780781,EBI-780739 MINT-2838330 I2D: score=5 STRING: ENSP00000346206
    HLA-GP176933I2D: score=3 
    PSMB8P280623I2D: score=3 
    HLA-CP103213I2D: score=2 
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001916positive regulation of T cell mediated cytotoxicity IBA--
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I TAS--
    GO:0002479antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS--
    GO:0002481antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent IBA--
    GO:0002485antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent IBA--

    TAP2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TAP2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for TAP2

    1 HMDB Compound for TAP2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    10/12 Novoseek chemical compound relationships for TAP2 gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    isoleucine 15.1 2 15774487 (1), 9098429 (1)
    oligonucleotide 13.9 3 11775239 (1), 9027960 (1), 9645419 (1)
    atp 11.4 9 8428770 (1), 12217520 (1), 15897556 (1), 15900495 (1) (see all 5)
    alanine 10.4 8 7957231 (2), 10626334 (1), 8477801 (1), 9098429 (1) (see all 5)
    forskolin 5.98 5 8961279 (2), 1333053 (1), 11410589 (1)
    mitoxantrone 5.44 2 11513878 (2)
    calcium 0 2 1317848 (1), 15337366 (1)
    threonine 0 4 10626334 (1), 8477801 (1), 19721454 (1)
    cyclic amp 0 1 9802424 (1)
    acth 0 3 8961279 (1)

    Search CenterWatch for drugs/clinical trials and news about TAP2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TAP2 gene (2 alternative transcripts): 
    NM_000544.3  NM_018833.2  

    Unigene Cluster for TAP2:

    Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
    Hs.502  [show with all ESTs]
    Unigene Representative Sequence: NM_000544
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374899(uc003ocb.1) ENST00000374897(uc003occ.3 uc003ocd.3)
    ENST00000464100 ENST00000485701

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    hsa-miR-3685 hsa-miR-148b* hsa-miR-136 hsa-miR-3607-3p hsa-miR-875-3p hsa-miR-1321 hsa-miR-589* hsa-miR-888
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    Additional cDNA sequence: 

    AB073779.1 AB208953.1 AF078671.1 AF105151.1 AF152583.1 AF176984.1 AK222823.1 AK223300.1 
    AK225657.1 AK225693.1 AK292963.1 AL833658.1 BC002751.2 BT009906.1 FM246456.1 L09191.1 
    L09271.1 L10287.1 M74447.1 M84748.1 U07844.1 Z22935.1 Z22936.1 

    9 DOTS entries:

    DT.91945568  DT.100754817  DT.310617  DT.100754819  DT.95220491  DT.97799200  DT.91686680  DT.95220496 
    DT.100754818 

    24/221 AceView cDNA sequences (see all 221):

    AI636544 AW016114 AI638705 BM838471 BT009906 BC002751 BU158047 AW953520 
    BQ059987 AI619972 CB267339 BE746187 BQ056870 M84748 CA488029 AU105993 
    AA302365 BX283204 Z22936 AI192398 AW183005 AW152445 AL833658 AA406373 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TAP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AACTGTATAC
    TAP2 Expression
    About this image

    TAP2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartAtrioventricular NodeAtrioventricular Node CellsMyocardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See TAP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TAP2

    SOURCE GeneReport for Unigene cluster: Hs.502
        SABiosciences Expression via Pathway-Focused PCR Arrays including TAP2: 
              Antigen Presenting Cells in human mouse rat
              Drug Transporters in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TAP2 gene from 7/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves TAP21 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 59.57(n)
    51.17(a)
      427728  NM_001099357.1  NP_001092827.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    50(a)
    1 → many
    GL344036.1(47936-69742)
    African clawed frog
    (Xenopus laevis)
    Amphibia AY204554.12   -- 70.69(n)    AY204554.1 
    zebrafish
    (Danio rerio)
    Actinopterygii abcb3l11 ATP-binding cassette, sub-family B (MDR/TAP), member more 54.72(n)
    49.83(a)
      368771  NM_001006594.1  NP_001006594.1 
    worm
    (Caenorhabditis elegans)
    Secernentea haf-86
    haf-76
    HAlF transporter (PGP related) family member (haf-...
    HAlF transporter (PGP related) family member (haf-...
    26(a)
    20(a)
    possible ortholog
    possible ortholog
    IV(14694001-14699909)
    V(14773342-14777316)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ATTAP16
    ABC transporter B family member 26
    25(a)
    1 → many
    1(26621961-26626503)
    rice
    (Oryza sativa)
    Liliopsida --
    antigen peptide transporter-like 1, chloroplast pr...
    32(a)
    1 → many
    1(39702262-39707007)


    ENSEMBL Gene Tree for TAP2 (if available)
    TreeFam Gene Tree for TAP2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TAP2 gene
    ENSG000002502642  ABCB102  TAP12  ABCB92  ABCB82  
    18/109 SIMAP similar genes for TAP2 using alignment to 11 protein entries:     TAP2_HUMAN (see all proteins) (see all similar genes):
    ABCB3    TAP2-G    HLA-DOB    ABCB4    HLA DRB4    HLA-DB1
    NG-TRA    MHC class II HLA-DRB1 Exon-2    DQB1-02    HLA-DRB3*01    MHC-DPB1*6001    DPB1
    DRB1*1303    HLA-DQB1*05    HLA-DQB1*06new1    HLA-DQB1/DRB1    HLA-DR beta    HLA-DR3

    TAP2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: TAP2_HUMAN, Q03519
    Polymorphism: 4 common alleles are officially recognized: TAP2*01:01 (TAP2A or PSF2A or RING11A), TAP2*01:02 (TAP2E),
    TAP2*01:03 (TAP2F), and TAP2*02:01 (TAP2B or PSF2B or RING11B). Other relatively common alleles have been identified:
    TAP2*01D, TAP2*01E, TAP2*01F, TAP2*01G, TAP2*01H, TAP2*02B, TAP2*02C (TAP2*02:02), TAP2*02D, TAP2*02E, TAP2*02F,
    TAP2*03A and TAP2*04A. The sequence shown is that of TAP2*01:01
    Polymorphism: The allele TAP2*Bky2 is commonly found only in the Japanese population. It may be associated with
    susceptibility to Sjoegren syndrome, an autoimmune disorder characterized by abnormal dryness of the conjunctiva,
    cornea and mouth due to exocrine glands dysfunction


    10/529 NCBI SNPs in TAP2 are shown (see all 529    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs18004541,2
    C,F,Hnon-pathogenic32800412(-) TGCTCG/ATAAGG 8 /I /V mis150Minor allele frequency- A:0.14MN NA NS EA WA CSA EU 12308
    rs2414471,2
    C,F,A,Huntested32796751(-) TGCAGA/GCAGTT 3 -- int1 ese326Minor allele frequency- G:0.31MN EA NS NA WA CSA 4278
    rs623976851,2
    C,F--32789111(+) CAGAGA/GCACTG 3 -- ds50012Minor allele frequency- G:0.04WA NA 238
    rs598532181,2
    C,F--32789168(+) TCTCCT/CGTATT 3 -- ds50017Minor allele frequency- C:0.13WA CSA NA EA 366
    rs607724341,2
    C,F--32789197(+) TTGAAC/AGAGCC 3 -- ds50016Minor allele frequency- A:0.13WA CSA NA EA 364
    rs600662201,2
    C,F--32789280(+) ACAGGC/ATCCTC 3 -- ds50012Minor allele frequency- A:0.50WA CSA 4
    rs132109611,2
    C,F,H--32789388(+) TTTGAG/AGGTGG 3 -- ds50019Minor allele frequency- A:0.02NS EA NA 660
    rs1510272681,2
    --32789400(+) ATAAAA/GTTATT 1 -- ds50010--------
    rs26213211,2
    C,F,A,H--32789480(-) TGAGAT/CGTACG 3 -- ds500124Minor allele frequency- C:0.26NS EA NA WA 2932
    rs1409273171,2
    --32789511(+) TTCCTC/TCTAAC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for TAP2 (32789610 - 32806557 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for TAP2
         2 Indels: 11278 28285
    Human Gene Mutation Database (HGMD): TAP2

    Locus Specific Mutation Databases (LSDB): TAP2

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TAP2 for disorders           About GeneDecksing

    OMIM gene information: 170261   
    OMIM disorders: 604571  
    UniProtKB/Swiss-Prot: TAP2_HUMAN, Q03519
  • Defects in TAP2 are a cause of bare lymphocyte syndrome type 1 (BLS1) [MIM:604571]; also called HLA class I
  • deficiency. BLS1 is a class I antigen deficiency that is not accompanied by particular pathologic manifestations
    during the first years of life. Systemic infections have not been described. Chronic bacterial infections, often
    beginning in the first decade of life, are restricted to the respiratory tract

    20/93 diseases for TAP2 (see all 93):    About MalaCards
    ankylosing spondylitis    diabetes mellitus    spondylitis    open-angle glaucoma
    mhc class i deficiency    wegener-like granulomatosis    bare lymphocyte syndrome    primary open angle glaucoma
    posterior uveal melanoma    pre-eclampsia    celiac disease    alveolar echinococcosis
    allergic rhinitis    echinococcosis    type 1 diabetes mellitus    pemphigus vulgaris
    wegener's granulomatosis    primary biliary cirrhosis    myasthenia gravis    lupus erythematosus

    10/50 Novoseek disease relationships for TAP2 gene (see all 50)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bare lymphocyte syndrome 70.9 2 20083708 (1), 10074494 (1)
    diabetes mellitus insulin-dependent 49 12 8002038 (2), 8477801 (2), 7871524 (1), 9599304 (1) (see all 8)
    genetic susceptibility 43.1 3 7759306 (1), 9361175 (1), 9844767 (1)
    spondylitis ankylosing 38.3 5 8770637 (2), 1570316 (1), 19480848 (1), 11096258 (1)
    autoimmune diseases 34.9 5 18851734 (1), 8847232 (1)
    cervical carcinoma 34 11 17366619 (3), 19202550 (2), 19263211 (1), 17622526 (1) (see all 6)
    burkitt lymphoma 31.4 4 11799186 (1), 11119603 (1), 10430223 (1), 7796675 (1)
    sjogrens syndrome 30.1 2 9599304 (1), 9324024 (1)
    tumors 29.2 26 10687135 (2), 11196471 (2), 12694570 (2), 18519766 (2) (see all 17)
    melanoma 27.1 23 8851724 (5), 10079252 (2), 17999701 (2), 11241306 (2) (see all 8)

    Genetic Association Database (GAD): TAP2
    Human Genome Epidemiology (HuGE) Navigator: TAP2 (86 documents)

    Export disorders for TAP2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TAP2 gene, integrated from 9 sources (see all 376):
    (articles sorted by number of sources associating them with TAP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genotyping TAP2 variants in North American Caucasians, Brazilians, and Africans. (PubMed id 11294565)1, 2, 4, 9 Tang J.... Kaslow R.A. (2001)
    2. Association of a new allele of the TAP2 gene, TAP2*Bky2 (Val577), with susceptibility to Sjogren's syndrome. (PubMed id 9324024)1, 2, 4, 9 Kumagai S.... Saji H. (1997)
    3. Two putative subunits of a peptide pump encoded in the human major histocompatibility complex class II region. (PubMed id 1946428)1, 2, 3, 9 Bahram S.... Spies T. (1991)
    4. Polymorphisms in the TAP2 gene and their association with rheumatoid arthritis. (PubMed id 8162639)1, 2, 4, 9 Singal D.P.... D'Souza M. (1994)
    5. Alleles and haplotypes of the MHC-encoded ABC transporters TAP1 and TAP2. (PubMed id 8428770)1, 2, 9 Powis S.H....Trowsdale J. (1993)
    6. TAP1 and TAP2 polymorphisms analysis in northwestern Colombian patients with systemic lupus erythematosus. (PubMed id 12634240)1, 4, 9 Correa P.A....Anaya J.M. (2003)
    7. TAP1 and TAP2 polymorphisms and their linkage disequilibrium with HLA-DR, -DP, and -DQ in an eastern Andalusian population. (PubMed id 16216677)1, 4, 9 Alvarado-Guerri R....Lopez-Nevot M.A. (2005)
    8. Association of TAP2 gene polymorphisms in Chinese patients with rheumatoid arthritis. (PubMed id 14749980)1, 4, 9 Yu M.C....Tsai F.J. (2004)
    9. Polymorphisms of human TAP2 detected by denaturing gradient gel electrophoresis. (PubMed id 12507827)1, 4, 9 Penfornis A....Faustman D.L. (2003)
    10. TAP1 and TAP2 polymorphism in Spanish patients with ankylosing spondylitis. (PubMed id 11096258)1, 4, 9 Fraile A....Nieto A. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6891 HGNC: 44 AceView: TAP2 Ensembl:ENSG00000204267 euGenes: HUgn6891
    ECgene: TAP2 Kegg: 6891 H-InvDB: TAP2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TAP2 Pharmacogenomics, SNPs, Pathways
    TAP2basehttp://bioinf.uta.fi/TAP2base/
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q03519

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TAP2 gene:
    Search GeneIP for patents involving TAP2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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