• Gene id: 6891

Gene Summary

• Gene Symbol: TAP2   Gene   UCSC   Ensembl
• Aliases: ABC18, ABCB3, APT2, D6S217E, PSF-2, PSF2, RING11
• Gene name: transporter 2, ATP binding cassette subfamily B member
• Alternate names: antigen peptide transporter 2, 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, transp,
• Gene location: 6p21.32 (86105885: 86020215)     Exons: 34     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 170261

Protein Summary

• Protein general information: Q03519  
  • Name: Antigen peptide transporter 2 (APT2) (ATP binding cassette sub family B member 3) (Peptide supply factor 2) (Peptide transporter PSF2) (PSF 2) (Peptide transporter TAP2) (Peptide transporter involved in antigen processing 2) (Really interesting new gene 1
  • Length: 686  
  • Mass: 75664
• Sequence:

  MRLPDLRPWTSLLLVDAALLWLLQGPLGTLLPQGLPGLWLEGTLRLGGLWGLLKLRGLLGFVGTLLLPLCLATPL
  TVSLRALVAGASRAPPARVASAPWSWLLVGYGAAGLSWSLWAVLSPPGAQEKEQDQVNNKVLMWRLLKLSRPDLP
  LLVAAFFFLVLAVLGETLIPHYSGRVIDILGGDFDPHAFASAIFFMCLFSFGSSLSAGCRGGCFTYTMSRINLRI
  REQLFSSLLRQDLGFFQETKTGELNSRLSSDTTLMSNWLPLNANVLLRSLVKVVGLYGFMLSISPRLTLLSLLHM
  PFTIAAEKVYNTRHQEVLREIQDAVARAGQVVREAVGGLQTVRSFGAEEHEVCRYKEALEQCRQLYWRRDLERAL
  YLLVRRVLHLGVQMLMLSCGLQQMQDGELTQGSLLSFMIYQESVGSYVQTLVYIYGDMLSNVGAAEKVFSYMDRQ
  PNLPSPGTLAPTTLQGVVKFQDVSFAYPNRPDRPVLKGLTFTLRPGEVTALVGPNGSGKSTVAALLQNLYQPTGG
  QVLLDEKPISQYEHCYLHSQVVSVGQEPVLFSGSVRNNIAYGLQSCEDDKVMAAAQAAHADDFIQEMEHGIYTDV
  GEKGSQLAAGQKQRLAIARALVRDPRVLILDEATSALDVQCEQALQDWNSRGDRTVLVIAHRLQTVQRAHQILVL
  QEGKLQKLAQL

• Structural information:
  • Protein Domains: (152..43-)
    type-1 (/note="ABC-transmembrane)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00441-)
    (468..68-)
    (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434"-)
  • Interpro: IPR003593  IPR011527  IPR036640  IPR013305  IPR003439   IPR017871  IPR027417  IPR005293  IPR039421  
  • Prosite: PS50929 PS00211 PS50893
  • PDB: 5U1D
  • PDBsum: 5U1D
  • DIP: 322
  • STRING: ENSP00000364034
• Other Databases: GeneCards:  TAP2  Malacards:  TAP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042824	MHC class I peptide loading complex	IBA	cellular component
GO:0042626	ATPase-coupled transmembrane transporter activity	IBA	molecular function
GO:0019885	antigen processing and presentation of endogenous peptide antigen via MHC class I	IBA	biological process
GO:0015833	peptide transport	IBA	biological process
GO:0015440	ATPase-coupled peptide transmembrane transporter activity	IBA	molecular function
GO:0015433	ATPase-coupled peptide antigen transmembrane transporter activity	IBA	molecular function
GO:0055085	transmembrane transport	IBA	biological process
GO:0046978	TAP1 binding	IBA	molecular function
GO:0042288	MHC class I protein binding	IBA	contributes to
GO:0005515	protein binding	IPI	molecular function
GO:0015440	ATPase-coupled peptide transmembrane transporter activity	IEA	molecular function
GO:0015833	peptide transport	IEA	biological process
GO:0019885	antigen processing and presentation of endogenous peptide antigen via MHC class I	IEA	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IEA	cellular component
GO:0042626	ATPase-coupled transmembrane transporter activity	IEA	molecular function
GO:0042825	TAP complex	IEA	cellular component
GO:1904680	peptide transmembrane transporter activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0042287	MHC protein binding	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0015833	peptide transport	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0015031	protein transport	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0002250	adaptive immune response	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	TAS	biological process
GO:0002479	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:1990668	vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane	TAS	biological process
GO:1990668	vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0042825	TAP complex	IDA	cellular component
GO:0019885	antigen processing and presentation of endogenous peptide antigen via MHC class I	IDA	biological process
GO:0016021	integral component of membrane	IDA	cellular component
GO:0005524	ATP binding	IDA	molecular function
GO:0046968	peptide antigen transport	IDA	biological process
GO:0042825	TAP complex	IDA	cellular component
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0042824	MHC class I peptide loading complex	IDA	cellular component
GO:0046968	peptide antigen transport	IMP	biological process
GO:0019885	antigen processing and presentation of endogenous peptide antigen via MHC class I	IMP	biological process
GO:0023029	MHC class Ib protein binding	IPI	molecular function
GO:0046978	TAP1 binding	IPI	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0046967	cytosol to endoplasmic reticulum transport	IMP	biological process
GO:0015433	ATPase-coupled peptide antigen transmembrane transporter activity	IMP	molecular function
GO:1904680	peptide transmembrane transporter activity	IGI	contributes to
GO:0002489	antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent	IMP	biological process
GO:0046980	tapasin binding	ISS	molecular function
GO:0046978	TAP1 binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05168	Herpes simplex virus 1 infection
hsa05163	Human cytomegalovirus infection
hsa05170	Human immunodeficiency virus 1 infection
hsa05169	Epstein-Barr virus infection
hsa04145	Phagosome
hsa04612	Antigen processing and presentation
hsa02010	ABC transporters
hsa05340	Primary immunodeficiency

Diseases

Associated diseases	References
Combined immunodeficiency	KEGG:H00093
Bare lymphocyte syndrome type1	KEGG:H00984
Combined immunodeficiency	KEGG:H00093
Bare lymphocyte syndrome type1	KEGG:H00984
Lymphoproliferative syndrome	PMID:10560675
Alzheimer's disease	PMID:16595160
Limited scleroderma	PMID:16112028
Diffuse scleroderma	PMID:16112028
Multiple sclerosis	PMID:7759306
Cervix carcinoma	PMID:17366619
Allergic contact dermatitis	PMID:9303338
Esophagus squamous cell carcinoma	PMID:19492245
cervical cancer	PMID:12648582
cervical cancer	PMID:18248301
Reactive arthritis	PMID:7748224
Ankylosing spondylitis	PMID:19480848
Rheumatoid arthritis	PMID:9645419
Psoriasis	PMID:17581627
Systemic lupus erythematosus	PMID:12634240
type 1 diabetes mellitus	PMID:17192492
type 1 diabetes mellitus	PMID:1300236
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray