TAP2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | TAP2 |
| Official Name | transporter 2, ATP binding cassette subfamily B member [Source:HGNC Symbol;Acc:HGNC:44] |
| Ensembl ID | ENSG00000204267 |
| Bio databases IDs | |
| Aliases | transporter 2, ATP binding cassette subfamily B member |
| Synonyms | ABC18, ABCB3, Antigen Peptide Transporter 2, APT2, Cim, D6S217E, Ham-2, jas, LOC103689996, MHC1D2, MTP2, PSF-2, RING11, transporter 2, ATP-binding cassette, sub-family B (MDR/TAP), transporter 2, ATP binding cassette subfamily B member, Y1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TAP2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- FeS assembly ATPase SufC
- TAP2 binding
- MHC class I protein binding
- TAP1 binding
- ADP binding
- ATP binding
- Conjugate Transporter-2 (CT2) Family protein
- nitrate transport ATP-binding subunits C and D
- identical protein binding
- heme ABC exporter, ATP-binding protein CcmA
- nucleotide-binding domain
- thiol reductant ABC exporter, CydC subunit
- MHC protein binding
- P-loop containing Nucleoside Triphosphate Hydrolases
- ATPases associated with a variety of cellular activities
- nucleotide binding
- lipid A export permease/ATP-binding protein MsbA
- walker type A motif
- glucan exporter ATP-binding protein
- protein binding
- urea ABC transporter, ATP-binding protein UrtE
- major histocompatibility peptide transporter
- ABC transporter transmembrane region
- Six-transmembrane helical domain of the ATP-binding cassette transporters
- thiol reductant ABC exporter, CydD subunit
- binding protein
- tapasin binding
- transmembrane domain
- NHLM bacteriocin system ABC transporter, ATP-binding protein
- protein homodimerization
- ABC transporter
- ABC transporter, permease/ATP-binding protein
- peptide antigen binding
- transporter
Pathways
Biological processes and signaling networks where the TAP2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- tuberculosis
- allergic asthma
- insulin-dependent diabetes mellitus
- bare lymphocyte syndrome, type I
- rheumatoid arthritis
- major depression
- type I bare lymphocyte syndrome due to TAP2 deficiency
- multiple sclerosis
- irritable bowel syndrome
role in cell
- binding in
- cytotoxicity
- protection
- segregation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- soluble fraction
- membrane fraction
- cellular membrane
- Nucleus
- Endoplasmic Reticulum
- midbody
- ER-to-Golgi intermediate compartment
- endoplasmic reticulum membrane
- microsome
- nuclear speckles
- mitotic spindle
- phagosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TAP2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent
- response to molecule of bacterial origin
- transmembrane transport
- protein transport
- T cell mediated cytotoxicity
- antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent
- antigen processing and presentation of endogenous peptide antigen via MHC class I
- positive regulation of T cell mediated cytotoxicity
- cytosol to ER transport
- peptide antigen transport
- antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- MHC class I peptide loading complex
- TAP complex
- nuclear speck
- membrane
- phagocytic vesicle membrane
- endoplasmic reticulum
- endoplasmic reticulum-Golgi intermediate compartment membrane
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- peptide antigen-transporting ATPase activity
- ATP binding
- peptide antigen binding
- protein binding
- metal ion binding
- peptide-transporting ATPase activity
- tapasin binding
- MHC class Ib protein binding
- TAP1 binding