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Aliases for TAP2 Gene

Aliases for TAP2 Gene

  • Transporter 2, ATP-Binding Cassette, Sub-Family B (MDR/TAP) 2 3 5
  • Peptide Transporter Involved In Antigen Processing 2 3 4
  • Really Interesting New Gene 11 Protein 3 4
  • Peptide Transporter PSF2 3 4
  • Peptide Supply Factor 2 3 4
  • RING11 3 4
  • ABCB3 3 4
  • PSF-2 3 4
  • PSF2 3 4
  • APT2 3 4
  • ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 3 3
  • ATP-Binding Cassette Sub-Family B Member 3 4
  • Transporter 2, ABC (ATP Binding Cassette) 3
  • Peptide Transporter TAP2 4
  • ABC Transporter, MHC 2 3
  • D6S217E 3
  • ABC18 3
  • Y1 4

External Ids for TAP2 Gene

Previous HGNC Symbols for TAP2 Gene

  • ABCB3

Previous GeneCards Identifiers for TAP2 Gene

  • GC06M032786
  • GC06M032560
  • GC06M032837
  • GC06M032838
  • GC06M032897
  • GC06M032783
  • GC06M032531

Summaries for TAP2 Gene

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 products which differ in peptide selectivity and level of restoration of surface expression of MHC class I molecules. [provided by RefSeq, Feb 2014]

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 bare lymphocyte syndrome, type i and immunodeficiency by defective expression of hla class 1. Among its related pathways are Immune System and ABC-family proteins mediated transport. GO annotations related to this gene include transporter activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is TAP1.

UniProtKB/Swiss-Prot for TAP2 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TAP2 Gene

Genomics for TAP2 Gene

Regulatory Elements for TAP2 Gene

Promoters for TAP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TAP2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the TAP2 gene promoter:

Genomic Location for TAP2 Gene

Chromosome:
6
Start:
32,821,833 bp from pter
End:
32,838,823 bp from pter
Size:
16,991 bases
Orientation:
Minus strand

Genomic View for TAP2 Gene

Genes around TAP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TAP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TAP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for TAP2 Gene

  • Protein details for TAP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q03519-TAP2_HUMAN
    Recommended name:
    Antigen peptide transporter 2
    Protein Accession:
    Q03519
    Secondary Accessions:
    • B0V2J8
    • O95410
    • Q53FI6
    • Q5HY71
    • Q96PT8
    • Q9UQ83

    Protein attributes for TAP2 Gene

    Size:
    686 amino acids
    Molecular mass:
    75664 Da
    Quaternary structure:
    • Heterodimer of TAP1 and TAP2. Interacts with Epstein-Barr virus BLNF2a. Interacts with herpes simplex virus ICP47 (PubMed:7760936).

    Alternative splice isoforms for TAP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TAP2 Gene

Proteomics data for TAP2 Gene at MOPED

Post-translational modifications for TAP2 Gene

  • Ubiquitination at Lys 135, Lys 245, and Lys 356
  • Modification sites at PhosphoSitePlus

Other Protein References for TAP2 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TAP2 (TAP2)

No data available for DME Specific Peptides for TAP2 Gene

Domains & Families for TAP2 Gene

Gene Families for TAP2 Gene

Graphical View of Domain Structure for InterPro Entry

Q03519

UniProtKB/Swiss-Prot:

TAP2_HUMAN :
  • The peptide-binding site is shared between the cytoplasmic loops of TAP1 and TAP2.
  • Belongs to the ABC transporter superfamily. ABCB family. MHC peptide exporter (TC 3.A.1.209) subfamily.
Domain:
  • The peptide-binding site is shared between the cytoplasmic loops of TAP1 and TAP2.
  • Contains 1 ABC transmembrane type-1 domain.
  • Contains 1 ABC transporter domain.
Family:
  • Belongs to the ABC transporter superfamily. ABCB family. MHC peptide exporter (TC 3.A.1.209) subfamily.
genes like me logo Genes that share domains with TAP2: view

Function for TAP2 Gene

Molecular function for TAP2 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
By IFNG/IFN-gamma.

Gene Ontology (GO) - Molecular Function for TAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12213826
GO:0015440 peptide-transporting ATPase activity IEA --
GO:0023029 MHC class Ib protein binding IPI 10605026
GO:0046978 TAP1 binding IPI 1538751
GO:0046980 tapasin binding ISS --
genes like me logo Genes that share ontologies with TAP2: view
genes like me logo Genes that share phenotypes with TAP2: view

Human Phenotype Ontology for TAP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TAP2 Gene

Localization for TAP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TAP2 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=The transmembrane segments seem to form a pore in the membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TAP2 Gene COMPARTMENTS Subcellular localization image for TAP2 gene
Compartment Confidence
plasma membrane 3
extracellular 2
cytosol 1
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for TAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with TAP2: view

Pathways & Interactions for TAP2 Gene

genes like me logo Genes that share pathways with TAP2: view

Gene Ontology (GO) - Biological Process for TAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0006810 transport IEA --
GO:0015833 peptide transport IEA --
GO:0019060 intracellular transport of viral protein in host cell IMP 7538543
GO:0019885 antigen processing and presentation of endogenous peptide antigen via MHC class I IEA,IMP 1538751
genes like me logo Genes that share ontologies with TAP2: view

No data available for SIGNOR curated interactions for TAP2 Gene

Drugs & Compounds for TAP2 Gene

(11) Drugs for TAP2 Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(2) Additional Compounds for TAP2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TAP2: view

Transcripts for TAP2 Gene

Unigene Clusters for TAP2 Gene

Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TAP2 Gene

No ASD Table

Relevant External Links for TAP2 Gene

GeneLoc Exon Structure for
TAP2
ECgene alternative splicing isoforms for
TAP2

Expression for TAP2 Gene

mRNA expression in normal human tissues for TAP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TAP2 Gene

This gene is overexpressed in Nasal epithelium (30.9) and Peripheral blood mononuclear cells (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TAP2 Gene



SOURCE GeneReport for Unigene cluster for TAP2 Gene Hs.502

genes like me logo Genes that share expression patterns with TAP2: view

Protein tissue co-expression partners for TAP2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TAP2 Gene

Orthologs for TAP2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TAP2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TAP2 35
  • 80.58 (n)
  • 76.51 (a)
-- 36
  • 75 (a)
ManyToMany
TAP2 36
  • 69 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia TAP2 35
  • 82.12 (n)
  • 78.66 (a)
TAP2 36
  • 72 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Tap2 35
  • 79.57 (n)
  • 76.86 (a)
Tap2 16
Tap2 36
  • 72 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia TAP2 35
  • 98.74 (n)
  • 98.89 (a)
-- 36
  • 92 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Tap2 35
  • 79.17 (n)
  • 75.61 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 61 (a)
ManyToMany
-- 36
  • 65 (a)
ManyToMany
-- 36
  • 59 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 53 (a)
OneToMany
chicken
(Gallus gallus)
Aves TAP2 35
  • 59.58 (n)
  • 51.09 (a)
TAP2 36
  • 47 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 51 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tap2 35
  • 55.11 (n)
  • 45.63 (a)
zebrafish
(Danio rerio)
Actinopterygii abcb3l1 35
  • 54.72 (n)
  • 50 (a)
abcb3l1 36
  • 39 (a)
ManyToMany
si:dkey-57h18.2 36
  • 36 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea haf-2 36
  • 28 (a)
ManyToMany
haf-4 36
  • 27 (a)
ManyToMany
haf-7 36
  • 23 (a)
ManyToMany
haf-8 36
  • 27 (a)
ManyToMany
haf-9 36
  • 28 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MDL1 36
  • 24 (a)
ManyToMany
MDL2 36
  • 24 (a)
ManyToMany
barley
(Hordeum vulgare)
Liliopsida Hv.7271 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
ManyToMany
CSA.2338 36
  • 28 (a)
ManyToMany
Species with no ortholog for TAP2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TAP2 Gene

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

Paralogs for TAP2 Gene

Paralogs for TAP2 Gene

genes like me logo Genes that share paralogs with TAP2: view

Variants for TAP2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for TAP2 Gene

Q03519-TAP2_HUMAN
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.

Sequence variations from dbSNP and Humsavar for TAP2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1800454 - 32,832,635(-) TGCTC(A/G)TAAGG reference, missense
rs2228396 - 32,830,032(-) ACATT(A/G)CTTAT reference, missense
rs4148876 - 32,829,016(-) ATTCC(C/T)GTGGG intron-variant, reference, missense
rs241447 - 32,828,974(-) TGCAG(A/G)CAGTT intron-variant, reference, missense
rs111303994 - 32,832,650(+) CAAGG(C/T)GCGTT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TAP2 Gene

Variant ID Type Subtype PubMed ID
nsv511120 CNV Complex 20534489
nsv885712 CNV Loss 21882294
esv2731872 CNV Deletion 23290073
esv2660966 CNV Deletion 23128226
esv1707688 CNV Deletion 17803354
esv2731874 CNV Deletion 23290073
esv33465 CNV Loss 17666407
esv32583 CNV Loss 17666407
nsv522573 CNV Loss 19592680
nsv830633 CNV Loss 17160897
nsv462891 CNV Loss 19166990

Variation tolerance for TAP2 Gene

Residual Variation Intolerance Score: 78.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.18; 90.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TAP2 Gene

HapMap Linkage Disequilibrium report
TAP2
Human Gene Mutation Database (HGMD)
TAP2

Disorders for TAP2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for TAP2 Gene - From: OMIM, ClinVar, Orphanet, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bare lymphocyte syndrome, type i
  • bare lymphocyte syndrome, type i, due to tap2 deficiency
immunodeficiency by defective expression of hla class 1
  • bare lymphocyte syndrome type 1
herpes simplex
  • herpesvirus hominis disease
spondylitis
bare lymphocyte syndrome, type ii, complementation group c
  • bare lymphocyte syndrome, type ii, complementation group e
- elite association - COSMIC cancer census association via MalaCards
Search TAP2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TAP2_HUMAN
  • 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. {ECO:0000269 PubMed:7517574}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TAP2

Genetic Association Database (GAD)
TAP2
Human Genome Epidemiology (HuGE) Navigator
TAP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TAP2
genes like me logo Genes that share disorders with TAP2: view

No data available for Genatlas for TAP2 Gene

Publications for TAP2 Gene

  1. Genotyping TAP2 variants in North American Caucasians, Brazilians, and Africans. (PMID: 11294565) Tang J. … Kaslow R.A. (Genes Immun. 2001) 3 4 23 48 67
  2. Two putative subunits of a peptide pump encoded in the human major histocompatibility complex class II region. (PMID: 1946428) Bahram S. … Spies T. (Proc. Natl. Acad. Sci. U.S.A. 1991) 2 3 23
  3. No association of TAP1 and TAP2 genes polymorphism with risk of cervical cancer in north Indian population. (PMID: 19263211) Kordi Tamandani D.M. … Suri V. (J. Assist. Reprod. Genet. 2009) 3 23
  4. Variation in the ATP-binding cassette transporter 2 gene is a separate risk factor for systemic lupus erythematosus within the MHC. (PMID: 19387463) Ramos P.S. … Moser K.L. (Genes Immun. 2009) 3 23
  5. TAP1 and TAP2 polymorphisms associated with ankylosing spondylitis in genetically homogenous Chinese Han population. (PMID: 19480848) Feng M. … Liu D. (Hum. Immunol. 2009) 3 23

Products for TAP2 Gene

Sources for TAP2 Gene

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