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

TAP2 Gene

protein-coding   GIFtS: 63
GCID: GC06M032789

Transporter 2, ATP-Binding Cassette, Sub-Family B (MDR/TAP)


(Previous symbol: ABCB3)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Transporter 2, ATP-Binding Cassette, Sub-Family B (MDR/TAP)1 2     ABC182
ABCB31 2 3 5     D6S217E2
PSF22 3 5     ABC Transporter, MHC 22
RING112 3 5     Antigen Peptide Transporter 22
Peptide Supply Factor 22 3     ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 32
Peptide Transporter Involved In Antigen Processing 22 3     Transporter 2, ABC (ATP Binding Cassette)2
Peptide Transporter PSF22 3     Y13
Really Interesting New Gene 11 Protein2 3     ATP-Binding Cassette Sub-Family B Member 33
APT22 3     Peptide Transporter TAP23
PSF-22 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 Gene:
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)

GeneCards Summary for TAP2 Gene: 
TAP2 (transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)) is a protein-coding gene. Diseases associated with TAP2 include mhc class i deficiency, and bare lymphocyte syndrome, type i, due to tap2 deficiency, and among its related super-pathways are ER-Phagosome pathway and Immune System. GO annotations related to this gene include transporter activity and MHC class I protein binding. An important paralog of this gene is ENSG00000250264.

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 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_007592.15  NT_113891.2  NT_167244.1  NT_167245.1  NT_167246.1  NT_167247.1  NT_167248.1  
NT_167249.1  NC_018917.2  
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-,NT_167246 4,246,806-4,263,744      Chr6-,NT_167245 4,071,136-4,087,923      Chr6-,NT_113891.2 4,234,140-4,251,075     
Chr6-,NT_167247 4,126,506-4,143,422      Chr6-,NT_167249 4,220,533-4,237,318      Chr6-,NT_167248 4,021,717-4,038,655     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for TAP2 at MOPED 

Post-translational modifications:

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

  • TAP2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    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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    Novus Biologicals TAP2 Lysate
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TAP2 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    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 HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ABCB: ATP binding cassette transporters / subfamily B

    IUPHAR Guide to PHARMACOLOGY protein family classification: ABCB3 
    ABCB subfamily

    5/9 InterPro protein domains (see all 9):
     IPR013306 ABC_B3
     IPR003439 ABC_transporter-like
     IPR005293 Ag_transporter2
     IPR027417 P-loop_NTPase
     IPR001140 ABC_transptr_TM_dom

    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


    TAP2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 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): 5/15 molecular function terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005215transporter activity IDA10835348
    GO:0005515protein binding IPI12213826
    GO:0005524ATP binding IDA7673167
    GO:0015197contributes to peptide transporter activity IGI7673167
         
    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 - Custom generated mouse model solutions for TAP2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TAP2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TAP2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TAP2 

    miRNA
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    8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate TAP2 (see all 14):
    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
    SwitchGear 3'UTR luciferase reporter plasmidTAP2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TAP2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TAP2 About   (see all 11)                                                                                              See pathways by source

    SuperPathContained pathways About
    1CDK-mediated phosphorylation and removal of Cdc6
    ER-Phagosome pathway0.81
    Antigen processing-Cross presentation0.81
    2Immune System
    Immune System0.56
    Adaptive Immune System0.56
    3Immune response Antigen presentation by MHC class I
    Immune response Antigen presentation by MHC class I0.92
    4Antigen processing: Ubiquitination & Proteasome degradation
    Class I MHC mediated antigen processing & presentation0.83
    5ABC-family proteins mediated transport
    ABC transporters0.70

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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


    1 Cell Signaling Technology (CST) Pathway for TAP2
        Lymphocyte Signaling

    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


    5         Kegg Pathways  (Kegg details for TAP2):
        ABC transporters
    Phagosome
    Antigen processing and presentation
    Herpes simplex infection
    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)

    5/44 Interacting proteins for TAP2 (Q035191, 2, 3 ENSP000003640344) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000227816Q035181, 2, 3, ENSP000004011494EBI-780781,EBI-747259 MINT-2838330 I2D: score=5 STRING: ENSP00000401149
    ENSG00000232367Q035181, 2, 3, ENSP000004023164EBI-780781,EBI-747259 MINT-2838330 I2D: score=5 STRING: ENSP00000402316
    TAP1Q035181, 2, 3, ENSP000003462064EBI-780781,EBI-747259 MINT-2838330 I2D: score=5 STRING: ENSP00000346206
    ENSG00000206297Q035181, 2, 3EBI-780781,EBI-747259 MINT-2838330 I2D: score=5 
    ENSG00000224212Q035181, 2, 3EBI-780781,EBI-747259 MINT-2838330 I2D: score=5 
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    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, Ligands according to IUPHAR, 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
    Browse drugs & compounds from Enzo Life Sciences

    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 inferred 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 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Additional mRNA 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):

    BC002751 AU105993 M84748 CA430500 BU174105 CB267339 BX283204 BM714492 
    F01995 AW152445 AL833658 AA742183 BM564383 AW016114 CA488029 AI638705 
    BU541101 BE675375 BQ689199 BE260238 BE746187 AF078671 BT009906 AA302365 

    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)      TAP2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACTGTATAC
    TAP2 Expression
    About this image


    TAP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             neutrophils   
     
     Heart (Cardiovascular System)
             Atrioventricular Node Cells Atrioventricular Node
     
     Liver (Hepatobiliary System)
             Mature Mesothelial Cells Hepatic Mesenchyme
     
     Oral Cavity (Gastrointestinal Tract)
             TONGUE   

    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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    (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 8/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tap21 , 5 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)1, 5 79.57(n)1
    76.86(a)1
      17 (17.98 cM)5
    213551  NM_011530.31  NP_035660.31 
     342035275 
    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(46053-70159)
    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-46
    haf-26
    haf-96
    haf-76
    (see first )
    Protein HA...
    Protein HA...
    Protein HA...
    Protein HA...
    Protein HA...
    (see first )
    26(a)
    26(a)
    26(a)
    26(a)
    21(a)
    (see first )
    many ↔ many
    many ↔ many
    many ↔ many
    many ↔ many
    many ↔ many
    (see first )
    IV(14694032-14699940)
    I(489984-496154)
    II(7353578-7356426)
    I(6081782-6085962)
    V(14773357-14777331)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MDL26
    MDL16
    Mitochondr...
    Mitochondr...
    22(a)
    22(a)
    many ↔ many
    many ↔ many
    XVI(30482-32803)
    XII(528300-530387)
    barley
    (Hordeum vulgare)
    Liliopsida Hv.72712 Transcribed sequence with moderate similarity to protein more 73.38(n)    AJ474430.1 


    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  ABCB82  ABCB92  TAP12  
    15 SIMAP similar genes for TAP2 using alignment to 9 protein entries:     TAP2_HUMAN (see all proteins):
    ABCB3    TAP2-G    ABCB4    NG-TRA    ABCB9    TAP1
    ABCB1    MDR1    ABCB11    ABCB8    DKFZp434I2115    ABCB5
    ABCB10    ABCB6    ABCC10

    TAP2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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


    10/583 SNPs in TAP2 are shown (see all 583)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs18004541,2,4
    C,F,Hnon-pathogenic132800412(-) TGCTCG/ATAAGG 12 /I /V mis150Minor allele frequency- A:0.14MN NA NS EA WA CSA EU 12308
    rs2414481,2
    C,F,A,Huntested132796685(-) AGCTCT/CAGGAG 9 /Q /* stg1 int124Minor allele frequency- C:0.31MN NS EA NA WA 2770
    rs2414471,2,4
    C,F,A,Huntested132796751(-) TGCAGA/GCAGTT 9 T A mis1 int1 ese326Minor allele frequency- G:0.31MN EA NS NA WA CSA 4278
    VAR_0149994
    ----see VAR_0149992 A S mis40--------
    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(+) TTGAAA/C/TGAGCC 3 -- ds50016WA 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
    C--32789400(+) ATAAAA/GTTATT 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for TAP2 (32789610 - 32806557 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/11 variations for TAP2 (see all 11):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2660966CNV Deletion23128226
    esv2731874CNV Deletion23290073
    esv1707688CNV Deletion17803354
    esv2731872CNV Deletion23290073
    esv33465CNV Loss17666407
    nsv522573CNV Loss19592680
    nsv462891CNV Loss19166990
    nsv830633CNV Loss17160897
    esv32583CNV Loss17666407
    nsv885712CNV Loss21882294


    Human Gene Mutation Database (HGMD): TAP2

    Locus Specific Mutation Databases (LSDB): TAP2
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 170261   
    OMIM disorders: 604571  
    UniProtKB/Swiss-Prot: TAP2_HUMAN, Q03519
  • Bare lymphocyte syndrome 1 (BLS1) [MIM:604571]: A HLA class I deficiency. Contrary to bare lymphocyte
    syndromes type 2 and type 3, which are characterized by early-onset severe combined immunodeficiency, class I
    antigen deficiencies are 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 20/84 diseases for TAP2 (see all 84):    About MalaCards
    mhc class i deficiency    bare lymphocyte syndrome, type i, due to tap2 deficiency    spondylitis    ankylosing spondylitis
    echinococcosis    posterior uveal melanoma    bare lymphocyte syndrome    alveolar echinococcosis
    cardiac sarcoidosis    cystic echinococcosis    celiac disease    bronchiectasis
    brucellosis    diabetes mellitus    reactive arthritis    pemphigus vulgaris
    sarcoidosis    graves' disease    allergic rhinitis    pemphigus


    TAP2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/50 Novoseek inferred 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 389):
    (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. No association of TAP1 and TAP2 genes polymorphism with risk of cervical cancer in north Indian population. (PubMed id 19263211)1, 4, 9 Kordi Tamandani D.M....Suri V. (2009)
    8. Determination of TAP1 and TAP2 polymorphism in the Chinese Han population by real-time TaqMan polymerase chain reaction. (PubMed id 18764808)1, 4, 9 Feng M.L....Liu D.Z. (2008)
    9. Genetic control of alternative splicing in the TAP2 gene: possible implication in the genetics of type 1 diabetes. (PubMed id 17192492)1, 4, 9 Qu H.Q....Polychronakos C. (2007)
    10. 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)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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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    About This Section

     
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