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FLASH GENE

Symbol

TAP2

contributors: mct - updated : 30-11-2016

HGNC name	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
HGNC id	44

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BLS1A bare lymphocyte syndrome type I
Location	6p21.32      Physical location : 4.021.716 - 32.806.547
Synonym name	antigen peptide transporter 2
	transporter associated with antigen processing 2
Synonym symbol(s)	APT2, PSF2, ABC18, ABCB3, RING11, D6S217E, D6S217E, PSF-2

DNA

TYPE	functioning gene
STRUCTURE	16.99 kb     13 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map

see RING@

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001290043 12 splicing 5732 NP_001276972 - 686 - 1992 1453454 a 12 exons variant lacking exon 13 encoding for the longer product NM_018833 12 splicing 2540 NP_061313 71.9 653 - 1992 1453454 a 12 exons variant lacking exon 12 encoding for the shorter product NM_000544 12 - 5679 NP_000535 77.6 703 - 1992 1453454

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive mouth       highly   stomach       highly Lymphoid/Immune lymph node       moderately   tonsils       moderately Reproductive female system uterus     moderately Homo sapiens Urinary bladder       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     moderately Epithelial barrier lining endometrium     Homo sapiens

cell lineage
cell lines
fluid/secretion	blood

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	three tapasin binding sites, two of which are located in the N-terminal domains of TAP1 and TAP2
	one ATP binding and one transmembrane domains (one TM, six segments)
	a nucleotide binding domain

mono polymer

heteromer , dimer

HOMOLOGY

interspecies	homolog to rattus Tap2 (74.89 pc)
	homolog to murine Tap2 (77.00 pc)

Homologene

FAMILY	ATP binding cassette superfamily
	subfamily B (MDR/TAP)

CATEGORY

immunity/defense , transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	TAP2 expression reached its peak during the early secretory phase of the menstrual cycle and rapidly decreased in the mid-secretory phase

basic FUNCTION	ABC transporter, traffick ATPase, controlling MHC class I antigen presentation pathway
	involved in the transport of antigenic peptides to HLA molecules
	transporter associated with antigen processing (TAP1 and TAP2) represents a focal point in the immune recognition of virally or malignantly transformed cells by translocating proteasomal degradation products into the endoplasmic reticulum-lumen for loading of MHC class I molecules
	TAP1, TAP2 binds to peptide-receptive MHC class I molecules to form the MHC class I peptide-loading complex (PLC)
	normal influx of TAP1, TAP2-transported peptides in the ER during routine processing creates an efficient barrier for peptides from alternative processing routes
	TAP1, TAP2 translocates cellular peptides across the endoplasmic reticulum membrane in an ATP hydrolysis-dependent manner
	translocates proteasomally derived cytosolic peptides into the endoplasmic reticulum
	is involved in the immunological response to tuberculosis (TB) infection

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

immunity/defense

PATHWAY

metabolism

signaling

a component	component with TAP1 of a heterodimer, component of a functional peptide-transporting complex with HLA-I and TAPBP
	ER-resident peptide-loading complex (PLC) consists of the transporter associated with antigen processing (TAP1 and TAP2), assembled with the auxiliary factors TAPBP and MHC I
	TAP1, TAP2/TAPBP complex formation is driven by hydrophobic interactions via leucine zipper-like motifs

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP

protein

MHC-linked transporter associated with antigen processing 2 interacting with ABCB2

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

BLS1A

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function in a syndrome with clinical manifestations which would suggest a phagocyte defect rather than a lack of CD8+ T cells

Susceptibility

to rheumatoid arthritis to diabetes to variation of intervals to pregnancy, and higher expression of TAP2 in mid-secretory-phase (receptive) endometrium to Crohn disease or ulcerative colitis to tuberculosis (TB) infection

Variant & Polymorphism SNP , other	SNP thr565 associated with rheumatoid arthritis
	TAP2 association with type 1 diabetes that is independent of HLA DR-DQ
	rs2071473 T/C polymorphism : T allele is significantly associated with ulcerative colitis and shorter time to pregnancy, whereas the derived C allele is significantly associated with Crohn disease and longer time to pregnancy, suggesting that these alleles could be maintained by antagonistic pleiotropy
	TAP2 polymorphisms influence TB susceptibility

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS