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

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; 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; 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

Location:: 6p21.32

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (32821831..32838739, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (32643187..32660143, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (32789608..32806516, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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?
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.
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 OMIM: 604571 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 EBI GWAS CatalogPubMed
Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies susceptibility loci for IgA nephropathy. EBI GWAS Catalog EBI GWAS CatalogPubMed
Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G15956 (e-PCR)
- UniSTS:75788

A006P08 (e-PCR)
- UniSTS:60189

SHGC-84877 (e-PCR)
- UniSTS:104773

Tap2 (e-PCR), detects polymorphism
- UniSTS:474695

D6S1426 (e-PCR)
- UniSTS:76880

TAP2_4167 (e-PCR)
- UniSTS:462933

GDB:226705 (e-PCR)
- UniSTS:156248

GDB:362798 (e-PCR)
- UniSTS:156767

D6S1432 (e-PCR)
- UniSTS:52203

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ABC-type peptide antigen transporter activity	IDA Inferred from Direct Assay 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
contributes_to 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	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 more info	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

EC 7.4.2.14

NP_001276972.1

EC 7.4.2.14

NP_061313.2

EC 7.4.2.14

NCBI Reference Sequences (RefSeq)

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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

NG_009793.4 RefSeqGene

Range

5032..21940

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_167

mRNA and Protein(s)

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
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
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