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Aliases for TAP2 Gene

Aliases for TAP2 Gene

  • Transporter 2, ATP-Binding Cassette, Sub-Family B (MDR/TAP) 2 3
  • RING11 3 4 6
  • ABCB3 3 4 6
  • PSF2 3 4 6
  • 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
  • PSF-2 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
  • Antigen Peptide Transporter 2 3
  • Peptide Transporter TAP2 4
  • ABC Transporter, MHC 2 3
  • D6S217E 3
  • ABC18 3
  • Y1 4

External Ids for TAP2 Gene

Previous Symbols for TAP2 Gene

  • ABCB3

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 immunodeficiency by defective expression of hla class 1 and bare lymphocyte syndrome, type i. Among its related pathways are Class I MHC mediated antigen processing and presentation and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include transporter activity and MHC class I protein binding. 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

Genomic Location for TAP2 Gene

Start:
32,821,833 bp from pter
End:
32,838,780 bp from pter
Size:
16,948 bases
Orientation:
Minus strand

Genomic View for TAP2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TAP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Regulatory Elements for TAP2 Gene

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

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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys135, Lys245, and Lys356

Other Protein References for TAP2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for TAP2 Gene

Domains for TAP2 Gene

Gene Families for TAP2 Gene

HGNC:
  • ABCB :ATP binding cassette transporters / subfamily B
IUPHAR :

UniProtKB/Swiss-Prot:

TAP2_HUMAN
Domain:
  • The peptide-binding site is shared between the cytoplasmic loops of TAP1 and TAP2:
    • Q03519
  • Contains 1 ABC transmembrane type-1 domain.:
    • Q03519
  • Contains 1 ABC transporter domain.:
    • Q03519
Family:
  • Belongs to the ABC transporter superfamily. ABCB family. MHC peptide exporter (TC 3.A.1.209) subfamily.:
    • Q03519
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:0005215 transporter activity IDA 10835348
GO:0005515 protein binding IPI 12213826
GO:0005524 ATP binding IDA 7673167
GO:0015197 contributes_to peptide transporter activity IGI 7673167
GO:0015433 peptide antigen-transporting ATPase activity IMP 1538751
genes like me logo Genes that share ontologies with TAP2: view
genes like me logo Genes that share phenotypes with TAP2: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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
endoplasmic reticulum 5
nucleus 4
plasma membrane 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for TAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IDA 8955196
GO:0030176 integral component of endoplasmic reticulum membrane IDA 7673167
GO:0042825 TAP complex IDA 15518576
genes like me logo Genes that share ontologies with TAP2: view

Pathways 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:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS --
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0002481 antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent IBA --
GO:0002485 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent IBA --
GO:0002489 antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent IMP 1538751
genes like me logo Genes that share ontologies with TAP2: view

Compounds for TAP2 Gene

(1) HMDB Compounds for TAP2 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5

(12) Novoseek inferred chemical compound relationships for TAP2 Gene

Compound -log(P) Hits PubMed IDs
isoleucine 15.1 2
oligonucleotide 13.9 3
atp 11.4 5
alanine 10.4 6
forskolin 5.98 4
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

Integrated Proteomics: protein expression 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 expressions with TAP2: view

Orthologs for TAP2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TAP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 37
  • 92 (a)
OneToMany
TAP2 36
  • 98.74 (n)
  • 98.89 (a)
cow
(Bos Taurus)
Mammalia -- 37
  • 75 (a)
ManyToMany
TAP2 36
  • 80.58 (n)
  • 76.51 (a)
TAP2 37
  • 69 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia TAP2 36
  • 82.12 (n)
  • 78.66 (a)
TAP2 37
  • 72 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Tap2 36
  • 79.57 (n)
  • 76.86 (a)
Tap2 16
Tap2 37
  • 72 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 61 (a)
ManyToMany
-- 37
  • 65 (a)
ManyToMany
-- 37
  • 59 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 53 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Tap2 36
  • 79.17 (n)
  • 75.61 (a)
chicken
(Gallus gallus)
Aves TAP2 36
  • 59.58 (n)
  • 51.09 (a)
TAP2 37
  • 47 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 51 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tap2 36
  • 55.11 (n)
  • 45.63 (a)
zebrafish
(Danio rerio)
Actinopterygii abcb3l1 36
  • 54.72 (n)
  • 50 (a)
abcb3l1 37
  • 39 (a)
ManyToMany
si:dkey-57h18.2 37
  • 36 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea haf-2 37
  • 28 (a)
ManyToMany
haf-4 37
  • 27 (a)
ManyToMany
haf-7 37
  • 23 (a)
ManyToMany
haf-8 37
  • 27 (a)
ManyToMany
haf-9 37
  • 28 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MDL1 37
  • 24 (a)
ManyToMany
MDL2 37
  • 24 (a)
ManyToMany
barley
(Hordeum vulgare)
Liliopsida Hv.7271 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 29 (a)
ManyToMany
CSA.2338 37
  • 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 MAF
rs13501 -- 32,825,746(+) GTGGA(A/G)TCAGG utr-variant-3-prime, intron-variant
rs17034 -- 32,828,744(-) TTGCA(A/G)GCACG utr-variant-3-prime, intron-variant
rs117821 -- 32,830,934(-) TTAAA(A/G)GTGGA intron-variant
rs183585 -- 32,831,896(-) ttcca(C/T)ttgtg intron-variant
rs241424 -- 32,837,157(-) CACTC(C/T)CTCAG intron-variant

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

Relevant External Links for TAP2 Gene

HapMap Linkage Disequilibrium report
TAP2
Human Gene Mutation Database (HGMD)
TAP2
Locus Specific Mutation Databases (LSDB)
TAP2

Disorders for TAP2 Gene

(1) OMIM Diseases for TAP2 Gene (170261)

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.

(50) Novoseek inferred disease relationships for TAP2 Gene

Disease -log(P) Hits PubMed IDs
bare lymphocyte syndrome 70.9 2
diabetes mellitus insulin-dependent 49 10
genetic susceptibility 43.1 3
spondylitis ankylosing 38.3 5
autoimmune diseases 34.9 2

Relevant External Links for TAP2

Genetic Association Database (GAD)
TAP2
Human Genome Epidemiology (HuGE) Navigator
TAP2
genes like me logo Genes that share disorders with TAP2: view

Publications for TAP2 Gene

  1. 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 4 23
  2. Polymorphisms in the TAP2 gene and their association with rheumatoid arthritis. (PMID: 8162639) Singal D.P. … D'Souza M. (Clin. Exp. Rheumatol. 1994) 3 4 23 49
  3. Association of a new allele of the TAP2 gene, TAP2*Bky2 (Val577), with susceptibility to Sjogren's syndrome. (PMID: 9324024) Kumagai S. … Saji H. (Arthritis Rheum. 1997) 3 4 23 49
  4. Genotyping TAP2 variants in North American Caucasians, Brazilians, and Africans. (PMID: 11294565) Tang J. … Kaslow R.A. (Genes Immun. 2001) 3 4 23 49
  5. Distribution of HLA-A, B alleles and polymorphisms of TAP and LMP genes in Korean patients with atopic dermatitis. (PMID: 11737038) Lee H.J. … Kim J.W. (Clin. Exp. Allergy 2001) 3 23 49

Products for TAP2 Gene

Sources for TAP2 Gene

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