TAP2 (transporter 2, ATP binding cassette subfamily B member)

2007-02-01  

Identity

HGNC
TAP2
LOCATION
6p21.32
LOCUSID
6891
ALIAS
ABC18,ABCB3,APT2,D6S217E,PSF-2,PSF2,RING11
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6891
MIM: 170261
HGNC: 44
Ensembl: ENSG00000204267

Variants:

dbSNP: 6891
ClinVar: 6891
TCGA: ENSG00000204267
COSMIC: TAP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204267ENST00000374897Q03519
ENSG00000204267ENST00000374897Q5JNW1
ENSG00000204267ENST00000620123A0A087WYD6
ENSG00000204267ENST00000652259Q03519
ENSG00000204267ENST00000652259Q9UP03

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
ABC transportersKEGGko02010
Antigen processing and presentationKEGGko04612
Primary immunodeficiencyKEGGko05340
ABC transportersKEGGhsa02010
Antigen processing and presentationKEGGhsa04612
Primary immunodeficiencyKEGGhsa05340
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Herpes simplex infectionKEGGko05168
Herpes simplex infectionKEGGhsa05168
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen Presentation: Folding, assembly and peptide loading of class I MHCREACTOMER-HSA-983170
Antigen processing-Cross presentationREACTOMER-HSA-1236975
ER-Phagosome pathwayREACTOMER-HSA-1236974

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
rectum
liver
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
177034122007Genetic susceptibility to respiratory syncytial virus bronchiolitis is predominantly associated with innate immune genes.100
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.51
146791982004Functional dissection of the transmembrane domains of the transporter associated with antigen processing (TAP).43
183093762008Several regions in the major histocompatibility complex confer risk for anti-CCP-antibody positive rheumatoid arthritis, independent of the DRB1 locus.36
192976162009Structural arrangement of the transmission interface in the antigen ABC transport complex TAP.36
192025502009Single nucleotide polymorphisms in antigen processing machinery component ERAP1 significantly associate with clinical outcome in cervical carcinoma.29
162106142005Critical role for the tapasin-docking site of TAP2 in the functional integrity of the MHC class I-peptide-loading complex.27
194049512009Association of a specific ERAP1/ARTS1 haplotype with disease susceptibility in ankylosing spondylitis.27
196092382009Maturation pathways of dendritic cells determine TAP1 and TAP2 levels and cross-presenting function.27

Citation

Dessen P

TAP2 (transporter 2, ATP binding cassette subfamily B member)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43829/tap2