Transporter, Atp-Binding Cassette, Major Histocompatibility Complex, 2

Alternative Names

  • TAP2
  • Transporter, ABC, MHC, 2
  • ATP-Binding Cassette, Subfamily B, Member 3
  • ABCB3
  • ATP-Binding Cassette Transporter, Major Histocompatibility Complex, 2
  • ABC Transporter, MHC, 2
  • RING11
  • Peptide Supply Factor 2
  • PSF2
  • Peptide Transporter PSF2
  • Antigen Peptide Transporter 2
  • APT2
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OMIM Number

170261

NCBI Gene ID

6891

Uniprot ID

Q03519

Length

16,909 bases

No. of Exons

13

No. of isoforms

2

Protein Name

Antigen peptide transporter 2

Molecular Mass

75664 Da

Amino Acid Count

686

Genomic Location

chr6:32,821,831-32,838,739

Gene Map Locus
6p21.32

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]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000544.3:c.753dupUnited Arab EmiratesNC_000006.12:g.32835346dupNG_009793.3:g.8425dup; NM_000544.3:c.753dup; NP_000535.3:p.Arg252ThrfsTer11
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