Entity Details

Primary name TAP2
Entity type gene
Source Source Link

Details

PrimaryID6891
RefseqGeneNG_009793
SymbolTAP2
Nametransporter 2, ATP binding cassette subfamily B member
Chromosome6
Location6p21.32
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-04-25
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsTAP2_HUMAN

GO terms

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GOName
GO:0002250 adaptive immune response
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent
GO:0002489 antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent
GO:0005524 ATP binding
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0015031 protein transport
GO:0015433 ABC-type peptide antigen transporter activity
GO:0015440 ABC-type peptide transporter activity
GO:0015833 peptide transport
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016032 viral process
GO:0016607 nuclear speck
GO:0019885 antigen processing and presentation of endogenous peptide antigen via MHC class I
GO:0023029 MHC class Ib protein binding
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0030670 phagocytic vesicle membrane
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane
GO:0042605 peptide antigen binding
GO:0042626 ATPase-coupled transmembrane transporter activity
GO:0042824 MHC class I peptide loading complex
GO:0042825 TAP complex
GO:0046872 metal ion binding
GO:0046967 cytosol to endoplasmic reticulum transport
GO:0046968 peptide antigen transport
GO:0046978 TAP1 binding
GO:0046980 tapasin binding
GO:0055085 transmembrane transport
GO:1990668 vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane

Diseases

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Disease IDSourceNameDescription
604571 OMIMBare lymphocyte syndrome 1 (BLS1)A HLA class I deficiency. Contrary to bare lymphocyte syndromes type 2 and type 3, which are characterized by early-onset severe combined immunodeficiency, class I antigen deficiencies are 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. The disease is caused by variants affecting the gene represented in this entry.