TAP2 Chromosome 6
Transporter 2, ATP binding cassette subfamily B member
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What This Gene Does
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]
Gene Info
Gene Group
ATP binding cassette subfamily B
Locus Type
gene with protein product
Location
6p21.32
Ensembl
ENSG00000204267
Associated Conditions (4)
MHC class I deficiency
TAP2-related disorder
Inborn genetic diseases
MHC class I deficiency 2
Key Variants
RS370260585
Conflicting classifications of pathogenicity
MHC class I deficiency, TAP2-related disorder, MHC class I deficiency
Health Risk
RS386699797
Conflicting classifications of pathogenicity
MHC class I deficiency, MHC class I deficiency
Health Risk
RS569356622
Conflicting classifications of pathogenicity
MHC class I deficiency, MHC class I deficiency
Health Risk
RS764973712
Conflicting classifications of pathogenicity
MHC class I deficiency, Inborn genetic diseases, MHC class I deficiency
Health Risk
RS765259917
Conflicting classifications of pathogenicity
MHC class I deficiency, Inborn genetic diseases, MHC class I deficiency
Health Risk
RS765335850
Conflicting classifications of pathogenicity
MHC class I deficiency, MHC class I deficiency
Health Risk
RS1222208628
Likely pathogenic
MHC class I deficiency, MHC class I deficiency
Health Risk
RS1321880935
Likely pathogenic
MHC class I deficiency, MHC class I deficiency
Health Risk
RS1769342165
Likely pathogenic
MHC class I deficiency, MHC class I deficiency, MHC class I deficiency
Health Risk
RS2127367115
Likely pathogenic
MHC class I deficiency, MHC class I deficiency
Health Risk
RS755005828
Likely pathogenic
MHC class I deficiency, MHC class I deficiency
Health Risk
RS142794316
Pathogenic
MHC class I deficiency, MHC class I deficiency
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS370260585 | Health Risk | Conflicting classifications of pathogenicity | MHC class I deficiency, TAP2-related disorder, MHC class I deficiency |
| RS386699797 | Health Risk | Conflicting classifications of pathogenicity | MHC class I deficiency, MHC class I deficiency |
| RS569356622 | Health Risk | Conflicting classifications of pathogenicity | MHC class I deficiency, MHC class I deficiency |
| RS764973712 | Health Risk | Conflicting classifications of pathogenicity | MHC class I deficiency, Inborn genetic diseases, MHC class I deficiency |
| RS765259917 | Health Risk | Conflicting classifications of pathogenicity | MHC class I deficiency, Inborn genetic diseases, MHC class I deficiency |
| RS765335850 | Health Risk | Conflicting classifications of pathogenicity | MHC class I deficiency, MHC class I deficiency |
| RS1222208628 | Health Risk | Likely pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS1321880935 | Health Risk | Likely pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS1769342165 | Health Risk | Likely pathogenic | MHC class I deficiency, MHC class I deficiency, MHC class I deficiency |
| RS2127367115 | Health Risk | Likely pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS755005828 | Health Risk | Likely pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS142794316 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS1455526809 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS1562331529 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS1768957914 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency 2, MHC class I deficiency |
| RS1769133149 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS2127363263 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS2127367497 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency 2, MHC class I deficiency |
| RS2483018539 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS2483031868 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS2483045582 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS61736923 | Health Risk | Pathogenic | MHC class I deficiency 2, MHC class I deficiency 2 |
| RS748019972 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS763365550 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS766586765 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS771932254 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS781370484 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency |