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

Gene ID: 6891, updated on 1-Jun-2020

Summary

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
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; 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

Genomic context

See TAP2 in Genome Data Viewer
Location:
6p21.32
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (32821833..32838770, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (32789610..32806547, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene major histocompatibility complex, class II, DQ beta 2 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

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Bare lymphocyte syndrome type 1
MedGen: C1858266 OMIM: 604571 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
ATP binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
ATPase activity IEA
Inferred from Electronic Annotation
more info
 
ATPase activity, coupled to transmembrane movement of substances IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to MHC class I protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
MHC class Ib protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
TAP1 binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
TAP1 binding IPI
Inferred from Physical Interaction
more info
PubMed 
peptide antigen-transporting ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptide antigen-transporting ATPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
contributes_to peptide transmembrane transporter activity IGI
Inferred from Genetic Interaction
more info
PubMed 
peptide-transporting ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
tapasin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
adaptive immune response IEA
Inferred from Electronic Annotation
more info
 
antigen processing and presentation of endogenous peptide antigen via MHC class I IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
antigen processing and presentation of endogenous peptide antigen via MHC class I IDA
Inferred from Direct Assay
more info
PubMed 
antigen processing and presentation of endogenous peptide antigen via MHC class I IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 
antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
Traceable Author Statement
more info
 
antigen processing and presentation of peptide antigen via MHC class I TAS
Traceable Author Statement
more info
 
cytosol to ER transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptide antigen transport IDA
Inferred from Direct Assay
more info
PubMed 
peptide antigen transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptide transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane TAS
Traceable Author Statement
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
MHC class I peptide loading complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
MHC class I peptide loading complex IDA
Inferred from Direct Assay
more info
PubMed 
TAP complex IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
endoplasmic reticulum-Golgi intermediate compartment membrane TAS
Traceable Author Statement
more info
 
integral component of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
nuclear speck IDA
Inferred from Direct Assay
more info
 
phagocytic vesicle membrane TAS
Traceable Author Statement
more info
 

General protein information

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)

NCBI Reference Sequences (RefSeq)

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_009793.3 RefSeqGene

    Range
    5001..21938
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000544.3NP_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/Swiss-Prot
    Q03519
    UniProtKB/TrEMBL
    X5CMH5
    Conserved Domains (1) summary
    TIGR00958
    Location:1697
    3a01208; Conjugate Transporter-2 (CT2) Family protein
  2. NM_001290043.2NP_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
    Q03519
    UniProtKB/TrEMBL
    Q5JNW1
    Related
    ENSP00000364032.2, ENST00000374897.3
    Conserved Domains (1) summary
    TIGR00958
    Location:1683
    3a01208; Conjugate Transporter-2 (CT2) Family protein
  3. NM_018833.2NP_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, BC002751, BG423357
    Consensus CDS
    CCDS4755.1
    UniProtKB/Swiss-Prot
    Q03519
    UniProtKB/TrEMBL
    Q9UP03
    Related
    ENSP00000498827.1, ENST00000652259.1
    Conserved Domains (3) summary
    TIGR00958
    Location:1649
    3a01208; Conjugate Transporter-2 (CT2) Family protein
    pfam00664
    Location:156416
    ABC_membrane; ABC transporter transmembrane region
    cl21455
    Location:457645
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    32821833..32838770 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_167244.2 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    4126847..4143633 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    4234034..4250969 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

    Range
    4065551..4082338 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p13 ALT_REF_LOCI_4

    Range
    4241186..4258124 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

    Range
    4120921..4137837 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

    Range
    4016121..4033059 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p13 ALT_REF_LOCI_7

    Range
    4221235..4238020 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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