Version: 8.0.0Date: Tue Jan 28 2025
Gene
TAP2
- Species
- Homo sapiens
- Symbol
- TAP2
- Name
- transporter 2, ATP binding cassette subfamily B member
- Synonyms
- ABC transporter, MHC 2
- ABC18
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including ABC-type peptide antigen transporter activity; ATP binding activity; and TAP1 binding activity. Involved in several processes, including antigen processing and presentation of endogenous peptide antigen via MHC class I; antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent; and peptide antigen transport. Located in endoplasmic reticulum membrane and nuclear speck. Part of TAP complex. Is active in endoplasmic reticulum. Implicated in several diseases, including aspirin-induced respiratory disease; autoimmune disease (multiple); cervical cancer (multiple); dengue hemorrhagic fever; and systemic scleroderma (multiple). Biomarker of esophagus squamous cell carcinoma.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR24221
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr6:32821831...32838739 - (16.91 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.