Gene: TAP2

Alternate names for this Gene: ABC18|ABCB3|APT2|D6S217E|PSF-2|PSF2|RING11

Gene 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 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: transporter 2, ATP binding cassette subfamily B member

Type of Gene: protein-coding

rs241440 in TAP2 gene and ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.

rs241440 in TAP2 gene and AIDS, PROGRESSION TO PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.

rs241425 in TAP2 gene and Asthma PMID 21907864 2011 Identification of IL6R and chromosome 11q13.5 as risk loci for asthma.

rs1015166 in TAP2 gene and Autoimmune thyroiditis PMID 25936594 2015 Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.

rs1222208628 in TAP2 gene and Bare Lymphocyte Syndrome, Type I PMID 23662797 2014 Transporter associated with antigen processing deficiency syndrome: case report of an adolescent with chronic perforated granulomatous skin lesions due to TAP2 mutation.

PMID 11529920 2001 Molecular studies and NK cell function of a new case of TAP2 homozygous human deficiency.

PMID 7517574 1994 Homozygous human TAP peptide transporter mutation in HLA class I deficiency.

PMID 12067308 2002 Asymptomatic deficiency in the peptide transporter associated to antigen processing (TAP).

rs241428 in TAP2 gene and C4 complement assay (procedure) PMID 23028341 2012 Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.

rs1015166 in TAP2 gene and Diabetes Mellitus, Insulin-Dependent PMID 25936594 2015 Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.

PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

rs4148872 in TAP2 gene and Diastolic blood pressure PMID 28135244 2017 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.

rs2228391 in TAP2 gene and Drug-induced neutropenia PMID 26151496 2015 Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.

rs1044043 in TAP2 gene and Graves Disease PMID 21900946 2011 Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.

PMID 26151496 2015 Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.

rs241440 in TAP2 gene and HIV-1, RESISTANCE TO PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.

rs241440 in TAP2 gene and HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.

rs4148871 in TAP2 gene and Hepatitis B PMID 23760081 2013 A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.

rs241427 in TAP2 gene and Multiple Sclerosis PMID 17660530 2007 Risk alleles for multiple sclerosis identified by a genomewide study.

rs10484565 in TAP2 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs1871665 in TAP2 gene and Oral Ulcer PMID 30837455 2019 Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci.

rs10484565 in TAP2 gene and Rheumatoid Arthritis PMID 19503088 2009 REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

PMID 17804836 2007 TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

PMID 21156761 2011 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.

PMID 26272072 2016 An Immunochip-based interaction study of contrasting interaction effects with smoking in ACPA-positive versus ACPA-negative rheumatoid arthritis.