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 ... See more...

Aliases for TAP2 Gene

Aliases for TAP2 Gene

  • Transporter 2, ATP Binding Cassette Subfamily B Member 2 3 5
  • RING11 2 3 4
  • PSF2 2 3 4
  • Transporter 2, ATP-Binding Cassette, Sub-Family B (MDR/TAP) 2 3
  • Peptide Transporter Involved In Antigen Processing 2 3 4
  • Really Interesting New Gene 11 Protein 3 4
  • Antigen Peptide Transporter 2 3 4
  • Peptide Transporter PSF2 3 4
  • Peptide Supply Factor 2 3 4
  • D6S217E 2 3
  • ABCB3 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
  • Peptide Transporter TAP2 4
  • ABC Transporter, MHC 2 3
  • ABC18 3
  • TAP2 5
  • 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
  • GC06M032789

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 Subfamily B Member) is a Protein Coding gene. Diseases associated with TAP2 include Immunodeficiency By Defective Expression Of Mhc Class I and Bare Lymphocyte Syndrome, Type I. Among its related pathways are Antigen processing-Cross presentation and Regulation of activated PAK-2p34 by proteasome mediated degradation. Gene Ontology (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 ENSG00000250264.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TAP2 Gene

Genomics for TAP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TAP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J032837 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 -3.5 -3469 9.8 SP1 HNRNPL CREB1 GATAD2A CTCF PRDM10 ZNF629 REST NFKBIZ RFX5 PSMB9 PSMB8-AS1 PSMB8 TAP2 HLA-DMA TAP1 HLA-DRB1 HLA-DOB HLA-DQA1 ENSG00000250264
GH06J032835 Promoter/Enhancer 0.5 EPDnew dbSUPER 600.7 +3.6 3598 0.1 TAP2 ENSG00000250264 lnc-HLA-DOB-1 HLA-DOB
GH06J032939 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 17 -105.0 -105027 9.6 RNF2 CEBPG SP1 CREB1 CTCF TEAD4 PRDM10 NFKBIZ RFX5 POLR2A HLA-DMA BRD2 PSMB9 TAP1 TAP2 PSMB8 RING1 HLA-DMB HLA-DOB ENSG00000223837
GH06J032951 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 11.1 -114.7 -114717 4.6 SP1 CREB1 CTCF TEAD4 RFX5 POLR2A BACH1 FOS FOXA1 STAT3 HLA-DMA ENSG00000248993 RING1 TAP1 PSMB9 TAP2 ENSG00000250264 HLA-DOB HLA-DRB6 HLA-DPA1
GH06J032851 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 7.3 -15.1 -15136 5.2 HNRNPL CREB1 GATAD2A CTCF PRDM10 REST LEF1 IKZF1 RFX5 ZNF692 PSMB9 TAP1 BRD2 VPS52 LEMD2 PSMB8 RXRB ATF6B HLA-DOB C4A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TAP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TAP2

Top Transcription factor binding sites by QIAGEN in the TAP2 gene promoter:
  • AML1a
  • STAT3

Genomic Locations for TAP2 Gene

Genomic Locations for TAP2 Gene
chr6:32,821,833-32,838,770
(GRCh38/hg38)
Size:
16,938 bases
Orientation:
Minus strand
chr6:32,789,610-32,806,557
(GRCh37/hg19)
Size:
16,948 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 HLA-A*02-B2M complex; this interaction is obligatory for the loading of peptide epitopes delivered to the ER by TAP1-TAP2 transporter (PubMed:8805302, PubMed:8630735). Similarly to classical MHC class I assembly, HLA-E-B2M complex binds TAP1-TAP2 heterodimer and CALR before the peptide loading (PubMed:9427624). Interacts with HLA-F (PubMed:10605026).
    • (Microbial infection) Interacts with Epstein-Barr virus BLNF2a.
    • (Microbial infection) Interacts with herpes simplex virus ICP47.

    Three dimensional structures from OCA and Proteopedia for TAP2 Gene

    Alternative splice isoforms for TAP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TAP2 Gene

Post-translational modifications for TAP2 Gene

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

Other Protein References for TAP2 Gene

No data available for DME Specific Peptides for TAP2 Gene

Domains & Families for TAP2 Gene

Gene Families for TAP2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for TAP2 Gene

GenScript: Design optimal peptide antigens:
  • Truncated antigen peptide transporter 2 (B6VNV2_HUMAN)
  • TAP (Q15547_HUMAN)
  • cDNA FLJ77215, highly similar to Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP), mRNA (Q5JNW1_HUMAN)
  • Transporter 2, ATP-binding cassette, sub-family B (Q96P38_HUMAN)
  • ABC-transporter (Q96PT8_HUMAN)

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.
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.

Phenotypes From GWAS Catalog for TAP2 Gene

Gene Ontology (GO) - Molecular Function for TAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 9427624
GO:0005524 ATP binding IEA,IMP 15793001
GO:0015433 peptide antigen-transporting ATPase activity IMP 1538751
GO:0015440 peptide-transporting ATPase activity IEA,IBA 21873635
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

CRISPR Products

miRNA for TAP2 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TAP2

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TAP2 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 4
plasma membrane 3
extracellular 2
peroxisome 2
cytosol 2
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
  • Nuclear speckles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA,IDA 8955196
GO:0016607 nuclear speck IDA --
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

Pathways by source for TAP2 Gene

Gene Ontology (GO) - Biological Process for TAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
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: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

No data available for SIGNOR curated interactions for TAP2 Gene

Drugs & Compounds for TAP2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 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

mRNA/cDNA for TAP2 Gene

3 REFSEQ mRNAs :
25 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TAP2

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

No ASD Table

Relevant External Links for TAP2 Gene

GeneLoc Exon Structure for
TAP2

Expression for TAP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for TAP2 Gene



Protein tissue co-expression partners for TAP2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TAP2

SOURCE GeneReport for Unigene cluster for TAP2 Gene:

Hs.502

Evidence on tissue expression from TISSUES for TAP2 Gene

  • Blood(4.4)
  • Nervous system(4.3)
  • Liver(4.3)
  • Spleen(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TAP2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • middle ear
  • mouth
  • nose
  • pharynx
  • sinus
  • skull
Thorax:
  • bronchus
  • lung
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with TAP2: view

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
Chimpanzee
(Pan troglodytes)
Mammalia TAP2 30
  • 98.74 (n)
-- 31
  • 92 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia TAP2 30 31
  • 82.12 (n)
OneToMany
Cow
(Bos Taurus)
Mammalia TAP2 30 31
  • 80.58 (n)
ManyToMany
-- 31
  • 75 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Tap2 30 17 31
  • 79.57 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Tap2 30
  • 79.17 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 65 (a)
ManyToMany
-- 31
  • 61 (a)
ManyToMany
-- 31
  • 59 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 53 (a)
OneToMany
Chicken
(Gallus gallus)
Aves TAP2 30 31
  • 59.58 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 51 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tap2 30
  • 55.11 (n)
Zebrafish
(Danio rerio)
Actinopterygii abcb3l1 30 31
  • 54.72 (n)
ManyToMany
si:dkey-57h18.2 31
  • 36 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea haf-2 31
  • 28 (a)
ManyToMany
haf-9 31
  • 28 (a)
ManyToMany
haf-4 31
  • 27 (a)
ManyToMany
haf-8 31
  • 27 (a)
ManyToMany
haf-7 31
  • 23 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MDL1 31
  • 24 (a)
ManyToMany
MDL2 31
  • 24 (a)
ManyToMany
Barley
(Hordeum vulgare)
Liliopsida Hv.7271 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 29 (a)
ManyToMany
CSA.2338 31
  • 28 (a)
ManyToMany
Species where no ortholog for TAP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TAP2: view image

Paralogs for TAP2 Gene

(15) SIMAP similar genes for TAP2 Gene using alignment to 8 proteins:

  • TAP2_HUMAN
  • B6VNV2_HUMAN
  • Q15547_HUMAN
  • Q5JNW1_HUMAN
  • Q96P38_HUMAN
  • Q99591_HUMAN
  • Q9UP03_HUMAN
  • Q9UQ60_HUMAN
genes like me logo Genes that share paralogs with TAP2: view

Variants for TAP2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for TAP2 Gene

TAP2_HUMAN-Q03519
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.
TAP2_HUMAN-Q03519
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.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TAP2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
13727 Pathogenic: Bare lymphocyte syndrome type 1 32,835,282(-) G/A NONSENSE
636814 Uncertain Significance: Bare lymphocyte syndrome type 1; not provided 32,830,662(-) C/T MISSENSE_VARIANT
639852 Uncertain Significance: Bare lymphocyte syndrome type 1 32,830,011(-) C/T MISSENSE_VARIANT
640861 Uncertain Significance: Bare lymphocyte syndrome type 1 32,830,070(-) T/C MISSENSE_VARIANT
641118 Uncertain Significance: Bare lymphocyte syndrome type 1 32,828,962(-) C/T MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for TAP2 Gene

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

Variant ID Type Subtype PubMed ID
esv1707688 CNV deletion 17803354
esv2660966 CNV deletion 23128226
esv2731872 CNV deletion 23290073
esv2731874 CNV deletion 23290073
esv3083127 CNV deletion 24192839
esv32583 CNV loss 17666407
esv33465 CNV loss 17666407
esv3567580 CNV deletion 23714750
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1119076 CNV deletion 24896259
nsv462891 CNV loss 19166990
nsv511120 OTHER complex 20534489
nsv522573 CNV loss 19592680
nsv830633 CNV loss 17160897

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)

Additional Variant Information for TAP2 Gene

Human Gene Mutation Database (HGMD)
TAP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TAP2

SNP Genotyping and Copy Number Assay Products

Disorders for TAP2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
immunodeficiency by defective expression of mhc class i
  • mhc class i deficiency
bare lymphocyte syndrome, type i
  • bls, type i
herpes simplex
  • herpesvirus hominis disease
spondylitis
bare lymphocyte syndrome, type ii
  • bls, type ii
- 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.

Additional Disease Information for TAP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 RA (Genes and immunity 2001) 3 4 23 41
  2. Association of a new allele of the TAP2 gene, TAP2*Bky2 (Val577), with susceptibility to Sjögren's syndrome. (PMID: 9324024) Kumagai S … Saji H (Arthritis and rheumatism 1997) 3 4 23 41
  3. Polymorphisms in the TAP2 gene and their association with rheumatoid arthritis. (PMID: 8162639) Singal DP … D'Souza M (Clinical and experimental rheumatology 1994) 3 4 23 41
  4. Two putative subunits of a peptide pump encoded in the human major histocompatibility complex class II region. (PMID: 1946428) Bahram S … Spies T (Proceedings of the National Academy of Sciences of the United States of America 1991) 2 3 4 23
  5. Variation in the ATP-binding cassette transporter 2 gene is a separate risk factor for systemic lupus erythematosus within the MHC. (PMID: 19387463) Ramos PS … Moser KL (Genes and immunity 2009) 3 23 41

Products for TAP2 Gene

  • Signalway ELISA kits for TAP2
  • Signalway Proteins for TAP2

Sources for TAP2 Gene