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    TAP2 transporter 2, ATP binding cassette subfamily B member [ Homo sapiens (human) ]

    Gene ID: 6891, updated on 14-Nov-2024

    Summary

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    Official Symbol
    TAP2provided by HGNC
    Official Full Name
    transporter 2, ATP binding cassette subfamily B memberprovided by HGNC
    Primary source
    HGNC:HGNC:44
    See related
    Ensembl:ENSG00000204267 MIM:170261; AllianceGenome:HGNC:44
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    APT2; PSF2; ABC18; ABCB3; PSF-2; MHC1D2; RING11; D6S217E
    Summary
    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]
    Expression
    Ubiquitous expression in appendix (RPKM 22.8), lymph node (RPKM 22.1) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TAP2 in Genome Data Viewer
    Location:
    6p21.32
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (32821831..32838739, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (32643187..32660143, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (32789608..32806516, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene major histocompatibility complex, class II, DQ beta 2 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:32746394 Neighboring gene melanoma risk locus-associated MPRA allelic enhancers 6:32747727 and 6:32747786 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:32748021 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:32748137 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:32749836 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:32750346 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:32751751 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:32752130 Neighboring gene melanoma risk locus-associated MPRA allelic enhancers 6:32752436, 6:32752477 and 6:32752546 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:32752973 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:32753654 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:32754294 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:32754458 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:32754921 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:32755087 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:32756916 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:32762528 Neighboring gene major histocompatibility complex, class II, DO beta Neighboring gene meiotic recombination hotspot TAP2 Neighboring gene PSMB8 antisense RNA 1 (head to head) Neighboring gene proteasome 20S subunit beta 8 Neighboring gene transporter 1, ATP binding cassette subfamily B member

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Regulatory Variants on the Leukocyte Immunoglobulin-Like Receptor Gene Cluster are Associated with Crohn's Disease and Interact with Regulatory Variants for TAP2.
      Title: Regulatory Variants on the Leukocyte Immunoglobulin-Like Receptor Gene Cluster are Associated with Crohn's Disease and Interact with Regulatory Variants for TAP2.
    2. Delayed Diagnosis of Chronic Necrotizing Granulomatous Skin Lesions due to TAP2 Deficiency.
      Title: Delayed Diagnosis of Chronic Necrotizing Granulomatous Skin Lesions due to TAP2 Deficiency.
    3. Association study of TAP and HLA-I gene combination with chronic hepatitis C virus infection in a Han population in China.
      Title: Association study of TAP and HLA-I gene combination with chronic hepatitis C virus infection in a Han population in China.
    4. The association of TAP polymorphisms with non-small-cell lung cancer in the Han Chinese population.
      Title: The association of TAP polymorphisms with non-small-cell lung cancer in the Han Chinese population.
    5. Spotlight on TAP and its vital role in antigen presentation and cross-presentation.
      Title: Spotlight on TAP and its vital role in antigen presentation and cross-presentation.
    6. Polymorphisms in transporter associated with antigen presenting are associated with cervical intraepithelial neoplasia and cervical cancer in a Chinese Han population.
      Title: Polymorphisms in transporter associated with antigen presenting are associated with cervical intraepithelial neoplasia and cervical cancer in a Chinese Han population.
    7. Associations of genetic variants at TAP1 and TAP2 with pulmonary tuberculosis risk among the Chinese population.
      Title: Associations of genetic variants at TAP1 and TAP2 with pulmonary tuberculosis risk among the Chinese population.
    8. Is the TAP2 single nucleotide polymorphism rs241447 truly associated with psoriasis in Poles?
      Title: Is the TAP2 single nucleotide polymorphism rs241447 truly associated with psoriasis in Poles?
    9. Quantitative assessment of the association between TAP2 rs241447 polymorphism and cancer risk.
      Title: Quantitative assessment of the association between TAP2 rs241447 polymorphism and cancer risk.
    10. This case-control analysis might suggest a possible role of TAP2 (A/G exon 11) (T665A) gene in the susceptibility to HIV-1 infection and disease outcome among North Indian patients.
      Title: Analysis of transporter associated with antigen presentation (TAP) genes polymorphisms with HIV-1 infection.
    Submit: New GeneRIF Correction See all GeneRIFs (103)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    MHC class I deficiency
    MedGen: C1858266 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
    EBI GWAS Catalog
    Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.
    EBI GWAS Catalog
    Genome-wide association study identifies susceptibility loci for IgA nephropathy.
    EBI GWAS Catalog
    Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with TAP2; predicted interaction to be involved in antigenicity/immunity PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ABC-type peptide antigen transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    contributes_to ABC-type peptide antigen transporter activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    enables ABC-type peptide antigen transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables ABC-type peptide transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATP binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables MHC class Ib protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables TAP1 binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables peptide antigen binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables peptide transmembrane transporter activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables tapasin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in T cell mediated cytotoxicity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in antigen processing and presentation of endogenous peptide antigen via MHC class I IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in antigen processing and presentation of endogenous peptide antigen via MHC class I IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cytosol to endoplasmic reticulum transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in peptide antigen transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in peptide antigen transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of T cell mediated cytotoxicity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to molecule of bacterial origin IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of MHC class I peptide loading complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of MHC class I peptide loading complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of TAP complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in endoplasmic reticulum-Golgi intermediate compartment membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    located_in phagocytic vesicle membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    antigen peptide transporter 2
    Names
    ABC transporter, MHC 2
    ATP-binding cassette, sub-family B (MDR/TAP), member 3
    peptide supply factor 2
    peptide transporter PSF2
    peptide transporter involved in antigen processing 2
    really interesting new gene 11 protein
    transporter 2, ABC (ATP binding cassette)
    transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
    NP_000535.3
    NP_001276972.1
    NP_061313.2

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009793.4 RefSeqGene

      Range
      5032..21940
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_167

    mRNA and Protein(s)

    1. NM_000544.3 → NP_000535.3  antigen peptide transporter 2 isoform 1

      See identical proteins and their annotated locations for NP_000535.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, B allele) represents the longer transcript and encodes the longest isoform (1). An allele (variant 1, A allele) exists in which a single nt change creates an internal stop codon, leading to a protein that is 17 aa shorter at the C-terminus.
      Source sequence(s)
      AL669918, BC002751, BG423357, Z22935
      UniProtKB/TrEMBL
      A0A1V0E3Z3, A0A1V0E403, Q59H06, X5CMH5
      Conserved Domains (1) summary
      TIGR00958
      Location:1 → 697
      3a01208; Conjugate Transporter-2 (CT2) Family protein

    2. NM_001290043.2 → NP_001276972.1  antigen peptide transporter 2 isoform 3

      See identical proteins and their annotated locations for NP_001276972.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, A allele) differs at 3 nt positions compared to variant 1, B allele. The resulting isoform (3) is shorter at the C-terminus compared to isoform 1.
      Source sequence(s)
      AK292963, AL669918, DC345324
      Consensus CDS
      CCDS78129.1
      UniProtKB/Swiss-Prot
      B0V2J8, O95410, Q03519, Q53FI6, Q5HY71, Q96PT8, Q9UQ83
      UniProtKB/TrEMBL
      A0A1V0E3X6, A0A1V0E419, Q5JNW1
      Related
      ENSP00000364032.3, ENST00000374897.4
      Conserved Domains (1) summary
      TIGR00958
      Location:1 → 683
      3a01208; Conjugate Transporter-2 (CT2) Family protein

    3. NM_018833.3 → NP_061313.2  antigen peptide transporter 2 isoform 2

      See identical proteins and their annotated locations for NP_061313.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AF105151, AL669918, BC002751, BG423357
      Consensus CDS
      CCDS4755.1
      UniProtKB/TrEMBL
      A0A140T9S0, Q9UP03
      Related
      ENSP00000498827.1, ENST00000652259.1
      Conserved Domains (3) summary
      TIGR00958
      Location:1 → 649
      3a01208; Conjugate Transporter-2 (CT2) Family protein
      pfam00664
      Location:156 → 416
      ABC_membrane; ABC transporter transmembrane region
      cl21455
      Location:457 → 645
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      32821831..32838739 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_167244.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      4126845..4143633 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      4234032..4250938 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      4065549..4082338 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      4241184..4258093 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      4120919..4137806 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      4016119..4033028 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      4221233..4238020 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      32643187..32660143 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q03519.1 GenPept UniProtKB/Swiss-Prot:Q03519

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