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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TAP2 Gene

protein-coding GIFtS: 60
GCID: GC06M032789

transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)

(Previous symbol: ABCB3)

Explore 93 diseases affiliated with
TAP2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Transporter 2, ATP-Binding Cassette, Sub-Family B (MDR/TAP)¹ ²		PSF-2² ³
ABCB3¹ ² ³ ⁵		ABC18²
PSF2¹ ² ³ ⁵		ABC Transporter, MHC 2²
RING11¹ ² ³ ⁵		Antigen Peptide Transporter 2²
D6S217E¹ ²		ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 3²
Peptide Supply Factor 2² ³		Transporter 2, ABC (ATP Binding Cassette)²
Peptide Transporter Involved In Antigen Processing 2² ³		Y1³
Peptide Transporter PSF2² ³		ATP-Binding Cassette Sub-Family B Member 3³
Really Interesting New Gene 11 Protein² ³		Peptide Transporter TAP2³
APT2² ³

External Ids:	HGNC: 44¹	Entrez Gene: 6891²	Ensembl: ENSG00000204267⁷	OMIM: 170261⁵	UniProtKB: Q03519³

Export aliases for TAP2 gene to outside databases

Previous GC identifers: GC06M032786 GC06M032560 GC06M032837 GC06M032838 GC06M032897 GC06M032783 GC06M032531

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TAP2:

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 two products which differ in peptide selectivity and level of

restoration of surface expression of MHC class I molecules. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: TAP2_HUMAN, Q03519

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

Gene Wiki entry for TAP2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NC_018917.1 NT_007592.15 NT_113891.2 NT_167244.1 NT_167245.1 NT_167246.1 NT_167247.1

NT_167248.1 NT_167249.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TAP2 gene promoter:
AML1a STAT3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TAP2 promoter sequence

Search SABiosciences Chromatin IP Primers for TAP2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TAP2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3 Ensembl cytogenetic band: 6p21.32 HGNC cytogenetic band: 6p21.3

TAP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TAP2 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06M032789: view genomic region (about GC identifiers)

Start:	32,789,610 bp from pter	End:	32,806,557 bp from pter
Size:	16,948 bases	Orientation:	minus strand

6/7 alternative locations (see all 7):

Chr6-,ALT_REF_LOCI_2 32,703,870-32,768,059	Chr6-,ALT_REF_LOCI_3 32,759,673-32,795,564	Chr6-,ALT_REF_LOCI_5 32,737,929-32,754,845
Chr6-,ALT_REF_LOCI_4 32,866,465-32,883,403	Chr6-,ALT_REF_LOCI_1 32,765,310-32,798,452	Chr6-,ALT_REF_LOCI_6 32,718,320-32,770,839

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TAP2_HUMAN, Q03519 (See protein sequence)

Recommended Name: Antigen peptide transporter 2

Size: 686 amino acids; 75664 Da

Subunit: Heterodimer of TAP1 and TAP2. Interacts with Epstein-Barr virus BLNF2a

Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=The transmembrane segments seem

to form a pore in the membrane

Secondary accessions: B0V2J8 O95410 Q53FI6 Q5HY71 Q96PT8 Q9UQ83

Alternative splicing: 2 isoforms: Q03519-1 Q03519-2

Explore the universe of human proteins at neXtProt for TAP2: NX_Q03519

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q03519

TAP2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000535.3 NP_061313.2

ENSEMBL proteins:

ENSP00000364034 ENSP00000364032

Reactome Protein details: Q03519
Human Recombinant Protein Products:

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	Uscn Proteins for TAP2

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005743	NOT mitochondrial inner membrane	IRD	--
GO:0005783	endoplasmic reticulum	IDA	--
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0005886	plasma membrane	IBA	--

TAP2 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for TAP2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TAP2 for domains About GeneDecksing

5/8 InterPro domains/families (see all 8):

IPR013306 ABC_B3

IPR003439 ABC_transporter-like

IPR005293 Ag_transporter2

IPR001140 ABC_transptr_TM_dom

IPR003593 AAA+_ATPase

Graphical View of Domain Structure for InterPro Entry Q03519

ProtoNet protein and cluster: Q03519

UniProtKB/Swiss-Prot: TAP2_HUMAN, Q03519

Domain: The peptide-binding site is shared between the cytoplasmic loops of TAP1 and TAP2

Similarity: Belongs to the ABC transporter superfamily. ABCB family. MHC peptide exporter (TC 3.A.1.209) subfamily

Similarity: Contains 1 ABC transmembrane type-1 domain

Similarity: Contains 1 ABC transporter domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: TAP2_HUMAN, Q03519

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

Induction: By IFNG/IFN-gamma

miRNA Products:		OriGene 3'-UTR Clone (see all 2): TAP2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TAP2
		8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate TAP2 (see all 14):
		hsa-miR-3685 hsa-miR-148b* hsa-miR-136 hsa-miR-3607-3p hsa-miR-875-3p hsa-miR-1321 hsa-miR-589* hsa-miR-888

		SwitchGear 3'UTR luciferase reporter plasmid: TAP2 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TAP2

Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005215	transporter activity	IDA	10835348
GO:0005515	protein binding	IPI	17055437
GO:0005524	ATP binding	IDA	7673167
GO:0015197	contributes to peptide transporter activity	IGI	7673167
GO:0015421	oligopeptide-transporting ATPase activity	IBA	--

TAP2 for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for TAP2:

Increased Salmonella enterica

Synthetic lethal with Ras

Synthetic lethal with paclitax

Animal Models:
2 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Tap2):

hematopoietic system

immune system

TAP2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Immune System

Immune System

1.00

Adaptive Immune System

0.59

Immune response Antigen presentation by MHC class I

Immune response Antigen presentation by MHC class I

1.00

Immune response_Antigen presentation by MHC class I

0.92

Ubiquitinated Orc1 is degraded by the proteasome

ER-Phagosome pathway

0.74

Antigen processing-Cross presentation

0.60

Primary immunodeficiency

Primary immunodeficiency

1.00

Phagosome

Phagosome

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for TAP2

Immune response Antigen presentation by MHC class I

1 GeneGo (Thomson Reuters) Pathway for TAP2

Immune response Antigen presentation by MHC class I

5/6 Reactome Pathways for TAP2 (see all 6)

	Antigen Presentation: Folding, assembly and peptide loading of class I MHC
	Antigen processing-Cross presentation
	Adaptive Immune System
	Class I MHC mediated antigen processing & presentation
	ER-Phagosome pathway

4 Kegg Pathways (Kegg details for TAP2):

	ABC transporters
	Phagosome
	Antigen processing and presentation
	Primary immunodeficiency

TAP2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TAP2

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

5/18 Interacting proteins for TAP2 (Q03519^{1, 2, 3} ENSP00000364034⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 18)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TAPBP	O15533¹^,³	EBI-780781,EBI-874801 I2D: score=4
TAP1	Q03518¹^,²^,³, ENSP00000346206⁴	EBI-780781,EBI-780739 MINT-2838330 I2D: score=5 STRING: ENSP00000346206
HLA-G	P17693³	I2D: score=3
PSMB8	P28062³	I2D: score=3
HLA-C	P10321³	I2D: score=2

About this table

Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001916	positive regulation of T cell mediated cytotoxicity	IBA	--
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	--

TAP2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

TAP2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TAP2

1 HMDB Compound for TAP2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine 5'-ATP ATP Adenosine 5'-triphosphate Adenosine 5'-triphosphorate Adenosine 5'-triphosphoric acid Adenosine triphosphate Adenosine triphosphic acid Adenylpyrophosphorate Adenylpyrophosphoric acid Adephos Adetol Adynol Atipi Atriphos Cardenosine Fosfobion Glucobasin Myotriphos Phosphobion Striadyne Triadenyl Triphosphaden Triphosphoric acid adenosine ester (see top 1)	56-65-5	--

10/12 Novoseek chemical compound relationships for TAP2 gene (see all 12) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
isoleucine	15.1	2	15774487 (1), 9098429 (1)
oligonucleotide	13.9	3	11775239 (1), 9027960 (1), 9645419 (1)
atp	11.4	9	8428770 (1), 12217520 (1), 15897556 (1), 15900495 (1) (see all 5)
alanine	10.4	8	7957231 (2), 10626334 (1), 8477801 (1), 9098429 (1) (see all 5)
forskolin	5.98	5	8961279 (2), 1333053 (1), 11410589 (1)
mitoxantrone	5.44	2	11513878 (2)
calcium	0	2	1317848 (1), 15337366 (1)
threonine	0	4	10626334 (1), 8477801 (1), 19721454 (1)
cyclic amp	0	1	9802424 (1)
acth	0	3	8961279 (1)

Search CenterWatch for drugs/clinical trials and news about TAP2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TAP2 gene (2 alternative transcripts):

NM_000544.3 NM_018833.2

Unigene Cluster for TAP2:

Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)

Hs.502 [show with all ESTs]

Unigene Representative Sequence: NM_000544

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000374899(uc003ocb.1) ENST00000374897(uc003occ.3 uc003ocd.3)

ENST00000464100 ENST00000485701

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		8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate TAP2 (see all 14):
		hsa-miR-3685 hsa-miR-148b* hsa-miR-136 hsa-miR-3607-3p hsa-miR-875-3p hsa-miR-1321 hsa-miR-589* hsa-miR-888

		SwitchGear 3'UTR luciferase reporter plasmid: TAP2 3' UTR sequence

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Additional cDNA sequence:

AB073779.1 AB208953.1 AF078671.1 AF105151.1 AF152583.1 AF176984.1 AK222823.1 AK223300.1

AK225657.1 AK225693.1 AK292963.1 AL833658.1 BC002751.2 BT009906.1 FM246456.1 L09191.1

L09271.1 L10287.1 M74447.1 M84748.1 U07844.1 Z22935.1 Z22936.1

9 DOTS entries:

DT.91945568 DT.100754817 DT.310617 DT.100754819 DT.95220491 DT.97799200 DT.91686680 DT.95220496

DT.100754818

24/221 AceView cDNA sequences (see all 221):

AI636544 AW016114 AI638705 BM838471 BT009906 BC002751 BU158047 AW953520

BQ059987 AI619972 CB267339 BE746187 BQ056870 M84748 CA488029 AU105993

AA302365 BX283204 Z22936 AI192398 AW183005 AW152445 AL833658 AA406373

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TAP2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AACTGTATAC

About this image

TAP2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Atrioventricular Node

Atrioventricular Node Cells

Myocardium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See TAP2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TAP2

SOURCE GeneReport for Unigene cluster: Hs.502

SABiosciences Expression via Pathway-Focused PCR Arrays including TAP2:

Antigen Presenting Cells in human mouse rat

Drug Transporters in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TAP2

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TAP2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for TAP2 gene from 7/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	TAP2¹	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	59.57(n) 51.17(a)		427728 NM_001099357.1 NP_001092827.1
lizard (Anolis carolinensis)	Reptilia	--	--	50(a)	1 → many	GL344036.1(47936-69742)
African clawed frog (Xenopus laevis)	Amphibia	AY204554.1²	--	70.69(n)		AY204554.1
zebrafish (Danio rerio)	Actinopterygii	abcb3l1¹	ATP-binding cassette, sub-family B (MDR/TAP), member more	54.72(n) 49.83(a)		368771 NM_001006594.1 NP_001006594.1
worm (Caenorhabditis elegans)	Secernentea	haf-8⁶ haf-7⁶	HAlF transporter (PGP related) family member (haf-... HAlF transporter (PGP related) family member (haf-...	26(a) 20(a)	possible ortholog possible ortholog	IV(14694001-14699909) V(14773342-14777316)
thale cress (Arabidopsis thaliana)	eudicotyledons	ATTAP1⁶	ABC transporter B family member 26	25(a)	1 → many	1(26621961-26626503)
rice (Oryza sativa)	Liliopsida	--	antigen peptide transporter-like 1, chloroplast pr...	32(a)	1 → many	1(39702262-39707007)

ENSEMBL Gene Tree for TAP2 (if available)
TreeFam Gene Tree for TAP2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for TAP2 gene

ENSG00000250264² ABCB10² TAP1² ABCB9² ABCB8²

18/109 SIMAP similar genes for TAP2 using alignment to 11 protein entries: TAP2_HUMAN (see all proteins) (see all similar genes):

ABCB3 TAP2-G HLA-DOB ABCB4 HLA DRB4 HLA-DB1

NG-TRA MHC class II HLA-DRB1 Exon-2 DQB1-02 HLA-DRB3*01 MHC-DPB1*6001 DPB1

DRB1*1303 HLA-DQB1*05 HLA-DQB1*06new1 HLA-DQB1/DRB1 HLA-DR beta HLA-DR3

TAP2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

UniProtKB/Swiss-Prot: TAP2_HUMAN, Q03519

Polymorphism: 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

Polymorphism: 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

SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs1800454^1,2	C,F,H,	non-pathogenic	32800412(-)	`TGCTCG/ATAAGG`	8	/I /V	mis¹		50		MN NA NS EA WA CSA EU	12308
rs241447^1,2	C,F,A,H,	untested	32796751(-)	`TGCAGA/GCAGTT`	3	--	int¹ ese³		26		MN EA NS NA WA CSA	4278
rs62397685^1,2	C,F,	--	32789111(+)	`CAGAGA/GCACTG`	3	--	ds500¹		2		WA NA	238
rs59853218^1,2	C,F,	--	32789168(+)	`TCTCCT/CGTATT`	3	--	ds500¹		7		WA CSA NA EA	366
rs60772434^1,2	C,F,	--	32789197(+)	`TTGAAC/AGAGCC`	3	--	ds500¹		6		WA CSA NA EA	364
rs60066220^1,2	C,F,	--	32789280(+)	`ACAGGC/ATCCTC`	3	--	ds500¹		2		WA CSA	4
rs13210961^1,2	C,F,H,	--	32789388(+)	`TTTGAG/AGGTGG`	3	--	ds500¹		9		NS EA NA	660
rs151027268^1,2		--	32789400(+)	`ATAAAA/GTTATT`	1	--	ds500¹		0	--	--	--	--
rs2621321^1,2	C,F,A,H,	--	32789480(-)	`TGAGAT/CGTACG`	3	--	ds500¹		24		NS EA NA WA	2932
rs140927317^1,2		--	32789511(+)	`TTCCTC/TCTAAC`	1	--	ds500¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for TAP2 (32789610 - 32806557 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for TAP2
2 Indels: 11278 28285
Human Gene Mutation Database (HGMD): TAP2

Locus Specific Mutation Databases (LSDB): TAP2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TAP2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TAP2 for disorders           About GeneDecksing

OMIM gene information: 170261
OMIM disorders: 604571
UniProtKB/Swiss-Prot: TAP2_HUMAN, Q03519

Defects in TAP2 are a cause of bare lymphocyte syndrome type 1 (BLS1) [MIM:604571]; also called HLA class I

deficiency. BLS1 is a class I antigen deficiency that is 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

20/93 diseases for TAP2 (see all 93): About MalaCards

ankylosing spondylitis diabetes mellitus spondylitis open-angle glaucoma

mhc class i deficiency wegener-like granulomatosis bare lymphocyte syndrome primary open angle glaucoma

posterior uveal melanoma pre-eclampsia celiac disease alveolar echinococcosis

allergic rhinitis echinococcosis type 1 diabetes mellitus pemphigus vulgaris

wegener's granulomatosis primary biliary cirrhosis myasthenia gravis lupus erythematosus

10/50 Novoseek disease relationships for TAP2 gene (see all 50) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
bare lymphocyte syndrome	70.9	2	20083708 (1), 10074494 (1)
diabetes mellitus insulin-dependent	49	12	8002038 (2), 8477801 (2), 7871524 (1), 9599304 (1) (see all 8)
genetic susceptibility	43.1	3	7759306 (1), 9361175 (1), 9844767 (1)
spondylitis ankylosing	38.3	5	8770637 (2), 1570316 (1), 19480848 (1), 11096258 (1)
autoimmune diseases	34.9	5	18851734 (1), 8847232 (1)
cervical carcinoma	34	11	17366619 (3), 19202550 (2), 19263211 (1), 17622526 (1) (see all 6)
burkitt lymphoma	31.4	4	11799186 (1), 11119603 (1), 10430223 (1), 7796675 (1)
sjogrens syndrome	30.1	2	9599304 (1), 9324024 (1)
tumors	29.2	26	10687135 (2), 11196471 (2), 12694570 (2), 18519766 (2) (see all 17)
melanoma	27.1	23	8851724 (5), 10079252 (2), 17999701 (2), 11241306 (2) (see all 8)

Genetic Association Database (GAD): TAP2
Human Genome Epidemiology (HuGE) Navigator: TAP2 (86 documents)

Export disorders for TAP2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for TAP2 gene, integrated from 9 sources (see all 376):
(articles sorted by number of sources associating them with TAP2)

Utopia: connect your pdf to the dynamic
world of online information

Genotyping TAP2 variants in North American Caucasians, Brazilians, and Africans. (PubMed id 11294565)^{1, 2, 4, 9} Tang J.... Kaslow R.A. (2001)
Association of a new allele of the TAP2 gene, TAP2*Bky2 (Val577), with susceptibility to Sjogren's syndrome. (PubMed id 9324024)^{1, 2, 4, 9} Kumagai S.... Saji H. (1997)
Two putative subunits of a peptide pump encoded in the human major histocompatibility complex class II region. (PubMed id 1946428)^{1, 2, 3, 9} Bahram S.... Spies T. (1991)
Polymorphisms in the TAP2 gene and their association with rheumatoid arthritis. (PubMed id 8162639)^{1, 2, 4, 9} Singal D.P.... D'Souza M. (1994)
Alleles and haplotypes of the MHC-encoded ABC transporters TAP1 and TAP2. (PubMed id 8428770)^{1, 2, 9} Powis S.H....Trowsdale J. (1993)
TAP1 and TAP2 polymorphisms analysis in northwestern Colombian patients with systemic lupus erythematosus. (PubMed id 12634240)^{1, 4, 9} Correa P.A....Anaya J.M. (2003)
TAP1 and TAP2 polymorphisms and their linkage disequilibrium with HLA-DR, -DP, and -DQ in an eastern Andalusian population. (PubMed id 16216677)^{1, 4, 9} Alvarado-Guerri R....Lopez-Nevot M.A. (2005)
Association of TAP2 gene polymorphisms in Chinese patients with rheumatoid arthritis. (PubMed id 14749980)^{1, 4, 9} Yu M.C....Tsai F.J. (2004)
Polymorphisms of human TAP2 detected by denaturing gradient gel electrophoresis. (PubMed id 12507827)^{1, 4, 9} Penfornis A....Faustman D.L. (2003)
TAP1 and TAP2 polymorphism in Spanish patients with ankylosing spondylitis. (PubMed id 11096258)^{1, 4, 9} Fraile A....Nieto A. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 6891	HGNC: 44	AceView: TAP2	Ensembl:ENSG00000204267	euGenes: HUgn6891
ECgene: TAP2	Kegg: 6891	H-InvDB: TAP2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for TAP2	Pharmacogenomics, SNPs, Pathways
TAP2base	http://bioinf.uta.fi/TAP2base/
ABCMdb	http://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q03519

Intellectual Property for TAP2 gene
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Patent Information for TAP2 gene:
Search GeneIP for patents involving TAP2

GeneCards and IP:
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TAP2 Gene

transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)

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TAP2 (Gene Symbol)
Transporter 2, ATP-Binding Cassette, Sub-Family B (MDR/TAP)
ABCB3
PSF2
RING11
D6S217E
Peptide Supply Factor 2
Peptide Transporter Involved In Antigen Processing 2
Peptide Transporter PSF2
Really Interesting New Gene 11 Protein
APT2
PSF-2
ABC18
ABC Transporter, MHC 2
Antigen Peptide Transporter 2
ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 3
Transporter 2, ABC (ATP Binding Cassette)
Y1
ATP-Binding Cassette Sub-Family B Member 3
Peptide Transporter TAP2

Spondylitis Ankylosing
Gastric Cancer
Autoimmune Diseases
Melanoma
Arthritis Reactive
Bronchiectasis
BREAST CARCINOMA
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Hepatitis Chronic
Dermatitis Atopic
Carcinoma
allergy
LUNG CARCINOMA
Bare Lymphocyte Syndrome
Leukemia
Liver diseases
Breast Cancer
primary tumor
Sjogrens Syndrome
HEPATOCELLULAR CARCINOMA
CERVICAL CARCINOMA
Allergic rhinitis
Carcinoma Renal Cell
Cancer
Diabetes Mellitus Insulin-Dependent
small cell lung cancer
Influenza
Lymphoma
Carcinoma Adrenocortical
Ovarian Cancer
Shock
Colorectal Cancer
Multiple Sclerosis
Burkitt Lymphoma
HNSCC
Carcinoma Squamous Cell
immunodeficiency
Psoriasis
Cervical Cancer
Sarcoidosis
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Graves Disease
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Autoimmunity
virus infection
Hepatitis C
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TAP2 Gene

transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)

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