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TAP2 Gene

protein-coding   GIFtS: 57

GC06M032897
transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: ABCB3)
Services    

Aliases &
Descriptions
for TAP2

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
ABC18 2
ABCB3 2, 3, 5
APT2 2, 3
D6S217E 1, 2
OTTHUMP00000029079 2
OTTHUMP00000038912 2
OTTHUMP00000038914 2
PSF-2 3
PSF2 1, 2, 3, 5
RING11 1, 2, 3, 5
Y1 3
Descriptions
ABC transporter, MHC 2 2
ATP-binding cassette sub-family B member 3 3
ATP-binding cassette, sub-family B (MDR/TAP), member 3 2
Peptide supply factor 2 2, 3
Peptide transporter PSF2 2, 3
Peptide transporter TAP2 3
Peptide transporter involved in antigen processing 2 3
antigen peptide transporter 2 2
transporter 2, ABC (ATP binding cassette) 2
transporter 2, ATP-binding cassette, sub-family B 2
transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 2
External Ids
HGNC: 441
Entrez Gene: 68912
UniProtKB: Q035193
Ensembl: ENSG000002042677
Search outside databases for aliases for TAP2 gene

Previous GC identifers: GC06M032786 GC06M032560 GC06M032837 GC06M032838

Summaries
for TAP2

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

 EntrezGene 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]

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

Genomic Location
for TAP2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the TAP2 gene  

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)

GeneLoc gene densities for chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M032897:     (about GC identifiers)

Start:
 32,897,588 bp from pter
End:
 32,914,525 bp from pter
Size:
 16,938 bases
Orientation:
 minus strand

2 alternative locations:
Chr6-,c6_COX 32,859,010-32,875,945      Chr6-,c6_QBL 32,861,173-32,878,111     
RefSeq DNA sequence:
NC_000006.10  NT_007592.14  NT_113891.1  NT_113897.1  

Proteins
for TAP2

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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 Q9UQ83

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins (2 alternative transcripts): 
    NP_000535.3  NP_061313.2  


    ENSEMBL proteins: 
    ENSP00000364032 ENSP00000364034 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (TAP2)
    Human Recombinant Proteins from Abnova (TAP2)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    5/8 Gene Ontology (GO) cellular component terms (links to tree view) (see all 8 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IDA18029348
    GO:0005783 endoplasmic reticulum IEA--
    GO:0005788 endoplasmic reticulum lumen IMP11133832
    GO:0005789 endoplasmic reticulum membrane IEA--
    GO:0005829 cytosol NAS11133832
    About this table

    Antibodies for TAP2: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for TAP2
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (TAP2), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (TAP2)
    Search Novus for antibodies for TAP2

    Assays for TAP2: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    Protein Domains/
    Families
    for TAP2

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro domains/families (see all 7 ):
     IPR013306 ABC_B3
     IPR003439 ABC_transporter-like
     IPR005293 Ag_transporter2
     IPR001140 ABC_TM_transpt
     IPR003593 ATPase_AAA+_core


       GeneDecks  TAP2 for the domains selected above  
    About GeneDecksing

    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 family. MHC peptide exporter (TC 3.A.1.209) subfamily
    Similarity: Contains 1 ABC transmembrane type-1 domain
    Similarity: Contains 1 ABC transporter domain

    Gene Function
    for TAP2

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (TAP2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (TAP2)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000544

                  Applied Biosystems Silencer® siRNAs for TAP2

                  Sigma-Aldrich siRNA and siRNA Panels for TAP2  
                         Sigma-Aldrich shRNA for TAP2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for TAP2
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000544
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000544
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_000544 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_000544

    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
    Induction: By interferon gamma

    2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Tap2):

    hematopoietic systemimmune system

    5/13 Gene Ontology (GO) molecular function terms (links to tree view) (see all 13 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0004409 homoaconitate hydratase activity NAS1946428
    GO:0005215 transporter activity IDA10835348
    GO:0005524 ATP binding NAS12047747
    GO:0015198 oligopeptide transporter activity IEA--
    About this table

    Pathways & Interactions
    for TAP2

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


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

       GeneDecks  TAP2 for the pathways selected above  
    About GeneDecksing

    5 Sigma-Aldrich "Your Favorite Gene" Pathways for  TAP2  (Your Favorite Gene powered by Ingenuity) 
     Primary Immunodeficiency Signaling
     Antigen Presentation Pathway
     Hepatic Cholestasis
     Protein Ubiquitination Pathway
     Lysine Biosynthesis

       GeneDecks  TAP2 for the pathways selected above  
    About GeneDecksing

    3 Kegg Pathways  (Kegg details for TAP2):
     hsa02010 ABC transporters
     hsa04612 Antigen processing and presentation
     hsa05340 Primary immunodeficiency

       GeneDecks  TAP2 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  TAP2 


    5/22 Interacting proteins for TAP2 (Q035191, 2 ENSP000003640323) via UniProtKB, MINT, and/or STRING (see all 22 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000168394Q035181, 2EBI-780781, EBI-747259 MINT-2838330
    ENSG00000206233Q035181, 2EBI-780781, EBI-747259 MINT-2838330
    TAP1Q035181, 2EBI-780781, EBI-747259 MINT-2838330 EBI-780781, EBI-747259 MINT-2838330
    TAPBPO155331EBI-780781, EBI-874801
    TAP1Q035181, 2EBI-780781, EBI-747259 MINT-2838330 EBI-780781, EBI-747259 MINT-2838330
    About this table

    5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006461 protein complex assembly NAS12047747
    GO:0006857 oligopeptide transport IEA--
    GO:0006886 intracellular protein transport IMP11133832
    GO:0006955 immune response IEA--
    GO:0019885 antigen processing and presentation of endogenous peptide antigen via MHC class I NAS11532960
    About this table

    Drugs & Compounds
    for TAP2

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for TAP2
    8 Novoseek chemical compound relationships for TAP2 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    isoleucine 16.60 2 15774487 (1), 9098429 (1)
    atp 13.01 9 8428770 (1), 12217520 (1), 15897556 (1), 15900495 (1) (see all 5)
    oligonucleotide 10.70 3 11775239 (1), 9027960 (1), 9645419 (1)
    forskolin 7.15 5 8961279 (2), 1333053 (1), 11410589 (1)
    calcium 0.00 2 1317848 (1), 15337366 (1)
    threonine 0.00 3 10626334 (1), 8477801 (1)
    cyclic amp 0.00 1 9802424 (1)
    acth 0.00 3 8961279 (1)
    About this table


    Transcripts
    for TAP2

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (TAP2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (TAP2)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000544

                  Sigma-Aldrich siRNA and siRNA Panels for TAP2  
                         Sigma-Aldrich shRNA for TAP2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000544  NM_018833  

    REFSEQ mRNAs for TAP2 gene (2 alternative transcripts): 

    NM_000544.3   NM_018833.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000544  NM_018833  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000544
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000544
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_000544 

    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 AK299603.1 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.100754818 
    DT.95220496 

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

    AA406468 BU731154 AA406373 BM838471 AW016114 AW183005 BC002751 Z22936 
    BE675375 AW953520 BX283204 AF078671 BU162911 CB267339 BQ056870 BU158047 
    AI192398 BE746187 F05746 AI638705 AF176984 BQ056133 AI619972 F01995 

    highest scoring ESTs for TAP2:

    M74447 AA005281 AF078671 AF105151 AL691990 AU076752 AU100442 AU132766 BE336724 BE893125 

    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


    GeneLoc Exon Structure

    2 Ensembl transcripts including schematic representations:
    ENST00000374897  ENST00000374899  

    Expression
    for TAP2

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    TAP2 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for TAP2

    1 / 2 / 3

    10 probe-sets matching TAP2 gene


    		Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    55051_at2, 3 U95-B 3 1.00 0.33 0.95 1.21 AA005281 0.80 1.00 0.91 1
    39988_at2, 3 U95-A 3 1.00 0.33 0.97 0.80 M74447 1.00 1.00 1.00 1

    		204769_s_at2, 3 U133-A 3 1.00 0.39 -- -- M74447 1.00 1.00 1.00 1

    		208428_at2, 3 U133-A 3 1.00 0.33 -- -- NM_018833 0.60 1.00 0.82 1

    		204770_at2, 3 U133-A 3 1.00 0.33 -- -- NM_000544 0.60 1.00 0.82 1

    		225973_at2, 3 U133-B 3 1.00 0.33 -- -- AA573502 0.60 1.00 0.82 1

    		204769_s_at2 U133Plus2 3 1.00 0.39 -- -- -- -- -- -- --

    		208428_at2 U133Plus2 3 1.00 0.33 -- -- -- -- -- -- --

    		204770_at2 U133Plus2 3 1.00 0.33 -- -- -- -- -- -- --

    		225973_at2 U133Plus2 3 1.00 0.33 -- -- -- -- -- -- --
    GeneDecks  TAP2 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.502

    Orthologs
    for TAP2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for TAP2 gene from 5/7 species (see all 7 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 TAP21   -- transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 82.12(n)
    78.66(a)    		 474864  XM_532099.2  XP_532099.2 
    cow
    (Bos taurus)    		 TAP21   -- transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 80.18(n)
    76.79(a)    		 281586  NM_174222.2  NP_776647.1 
    rat
    (Rattus norvegicus)    		 Tap21   -- transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 78.79(n)
    74.89(a)    		 24812  NM_032056.1  NP_114445.1 
    mouse
    (Mus musculus)    		 Tap21, 5 17 (18.62 cM)5
    		 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)1, 5 79.67(n)1
    77(a)1    		 213551  NM_011530.21  NP_035660.21 
     AF0278655  AF3075135  (see all 28)
    zebrafish
    (Danio rerio)    		 abcb3l11   -- ATP-binding cassette, sub-family B (MDR/TAP), member more 54.72(n)
    49.83(a)    		 368771  NM_001006594.1  NP_001006594.1 
    About this table        Species with no ortholog for TAP2

    ENSEMBL Gene Tree for TAP2

    Paralogs
    for TAP2

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for TAP2 gene
    ABCB82  ENSG000001683942  

    SNPs/Variants
    for TAP2

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section

    		UniProtKB/Swiss-Prot: TAP2_HUMAN, Q03519
    Polymorphism: 4 common alleles are officially recognized: TAP2*0101 (TAP2A or PSF2A or RING11A),
    TAP2*0102 (TAP2E), TAP2*0103 (TAP2F), and TAP2*0201 (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*0202), TAP2*02D, TAP2*02E, TAP2*02F, TAP2*03A and TAP2*04A. The sequence shown is
    that of TAP2*0101
    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


    10/297 NCBI SNPs in TAP2 are shown (see all 297 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 199)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 6 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    --
    rs2414511,2
    		A,C,F,H32904458(-) GGGGTA/GGAGAG 2 -- ut31 int1 ese35Minor allele frequency- G:0.42MN EU EA WA 586
    rs47135981,2
    		A,C,F,H32914764(+) CAACTT/GTATCT 2 -- ng318Minor allele frequency- G:0.44EU EA WA 794
    rs37633641,2
    		A,C,F,H32915498(-) CTGGGT/ACAGGA 2 -- ng317Minor allele frequency- A:0.37EA EU WA MN 2784
    rs10440431,2
    		A,C,F,H32901959(-) ACTTGG/TAATCC 2 -- ut31 int110Minor allele frequency- T:0.24EA EU WA MN NA 2456
    rs26213211,2
    		A,C,F,H32897458(-) TGAGAT/CGTACG 1 -- ng519Minor allele frequency- C:0.26EU EA WA NS 1000
    rs170341,2
    		A,C,F,H32904499(-) TTGCAG/AGCACG 2 -- ut31 int1 ese311Minor allele frequency- A:0.28MN EA EU WA NA 1074
    rs2414551,2
    		A,C,F,H32903997(-) TAATGG/TGAGTA 2 -- ut31 int1 ese35Minor allele frequency- T:0.33EA EU WA 1880
    rs2414481,2
    		A,C,F,H32904663(-) AGCTCT/CAGGAG 2 X/Q non1 int18Minor allele frequency- C:0.29MN EU EA WA NA 832
    rs135011,2
    		A,C,F,H32901501(+) GTGGAG/ATCAGG 2 -- ut31 int114Minor allele frequency- A:0.39MN EU EA WA NS 1608
    rs37633661,2
    		A,C,F,H32915424(-) AGTACG/CGGGCA 2 -- ng31 tfbs311Minor allele frequency- C:0.48EU EA WA NS MN 2260
    About this table

    HapMap Linkage Disequilibrium images for TAP2 (up to first 250kb)

    Disorders & Mutations
    for TAP2

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    		 OMIM: 170261

    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

    • 10/51 Novoseek disease relationships for TAP2 gene (see all 51 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    bare lymphocyte syndrome 56.41 1 10074494 (1)
    diabetes mellitus insulin-dependent 50.18 12 8002038 (2), 8477801 (2), 7871524 (1), 9599304 (1) (see all 8)
    genetic susceptibility 44.91 3 7759306 (1), 9361175 (1), 9844767 (1)
    cervical carcinoma 35.56 11 17366619 (3), 19202550 (2), 19263211 (1), 17622526 (1) (see all 6)
    autoimmune diseases 34.92 5 18851734 (1), 8847232 (1)
    burkitt lymphoma 33.08 4 11799186 (1), 11119603 (1), 10430223 (1), 7796675 (1)
    spondylitis ankylosing 30.77 4 8770637 (2), 1570316 (1), 11096258 (1)
    sjogrens syndrome 30.64 2 9599304 (1), 9324024 (1)
    melanoma 28.87 23 8851724 (5), 10079252 (2), 17999701 (2), 11241306 (2) (see all 8)
    tumors 27.02 25 10687135 (2), 11196471 (2), 12694570 (2), 18519766 (2) (see all 16)
    About this table

    Human Gene Mutation Database: TAP2
    Genetic Association Database: TAP2
    Human Genome Epidemiology Navigator: TAP2 (70 documents)

    Medical News
    for TAP2

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    		   --

    Publications
    for TAP2

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

    		10/334 PubMed articles for TAP2 gene (see all 334 ):

    Search for TAP2

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing TAP2

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

    Other Databases showing TAP2

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing TAP2

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    TAP2basehttp://bioinf.uta.fi/TAP2base/

    Licensable Technologies
    for TAP2

    (Available from WIS Yeda, Salk, Tufts)
    About This Section

    		  --

    Services
    for TAP2

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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