TAP2 deficiency

Gene Information

Names

HUGO name: TAP2

Alias(es):

  • ABCB3
  • D6S217E
  • PSF2
  • RING11
  • Y1
  • ATP-binding cassette, sub-family B (MDR/TAP), member 3
  • transporter 2, ABC
  • ATP binding cassette
  • transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
  • Antigen peptide transporter 2
  • APT2
  • Peptide transporter TAP2
  • Peptide transporter PSF2
  • Peptide supply factor 2
  • PSF-2
  • Peptide transporter involved in antigen processing 2

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Protein function:

Involved in the transport of antigens from the cytoplasm to a membrane-bound compartment for association with MHC class I molecules.

Subunit:

Heterodimer of TAP1 and TAP2.

Subcellular location:

Integral membrane protein.

Induction:

By interferon gamma.

Polymorphism:

The following alleles of TAP2 are known: TAP2*0101, TAP2*0102 (TAP2e), TAP2*0103 and TAP2*0201 (psf2b).

Expression

Expression pattern for human

Tissue Expression (%) Clones
leukocyte 13.25 3:8982
aorta, endothelium 13.04 1:3042
ovary (pool of 3) 9.06 1:4380
leukopheresis 8.71 1:4557
rpe and choroid 7.51 2:10565
blood 6.27 2:12646
B-cells 4.80 2:16533
blood, lymphocyte 3.50 1:11328
mixed 3.29 5:60341
stomach 2.88 8:110283