Gene Gene information from NCBI Gene database.
Entrez ID 6891
Gene name Transporter 2, ATP binding cassette subfamily B member
Gene symbol TAP2
Synonyms (NCBI Gene)
ABC18ABCB3APT2D6S217EMHC1D2PSF-2PSF2RING11
Chromosome 6
Chromosome location 6p21.32
Summary 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
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs61736923 G>A,C Pathogenic Stop gained, coding sequence variant, missense variant
rs1222208628 C>T Likely-pathogenic Splice donor variant
rs1321880935 TG>- Likely-pathogenic Frameshift variant, coding sequence variant
rs1562331529 C>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
104
miRTarBase ID miRNA Experiments Reference
MIRT739187 hsa-miR-3145-5p HITS-CLIP 33718276
MIRT739189 hsa-miR-1972 HITS-CLIP 33718276
MIRT1411104 hsa-miR-1207-5p CLIP-seq
MIRT1411105 hsa-miR-1225-5p CLIP-seq
MIRT1411106 hsa-miR-1226 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
IRF1 Unknown 18694960
NFKB1 Unknown 18694960
RELA Unknown 18694960
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
59
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001913 Process T cell mediated cytotoxicity IEA
GO:0001916 Process Positive regulation of T cell mediated cytotoxicity IEA
GO:0002237 Process Response to molecule of bacterial origin IEA
GO:0002250 Process Adaptive immune response IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
170261 44 ENSG00000204267
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q03519
Protein name Antigen peptide transporter 2 (APT2) (EC 7.4.2.14) (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 interest
Protein function ABC transporter associated with antigen processing. In complex with TAP1 mediates unidirectional translocation of peptide antigens from cytosol to endoplasmic reticulum (ER) for loading onto MHC class I (MHCI) molecules (PubMed:25377891, PubMed:
PDB 5U1D , 8T46 , 8T4E , 8T4F , 8T4G , 8T4H , 8T4I , 8T4J
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00664 ABC_membrane 152 421 ABC transporter transmembrane region Family
PF00005 ABC_tran 486 635 ABC transporter Domain
Sequence
Sequence length 686
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
61
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
MHC class I deficiency Pathogenic; Likely pathogenic rs2127363263, rs781370484, rs2127367115, rs2127367497, rs1769133149, rs142794316, rs1769342165, rs763365550, rs2483018539, rs2483045582, rs1455526809, rs2483031868, rs1768957914, rs771932254, rs755005828
View all (5 more)
RCV002035511
RCV001958966
RCV002000304
RCV001951235
RCV001955789
View all (16 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MHC class I deficiency 2 Pathogenic rs2127367497, rs61736923, rs1768957914 RCV004556093
RCV004556049
RCV006249882
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations