Gene: TSBP1-AS1

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: TSBP1 and BTNL2 antisense RNA 1

Type of Gene: ncRNA

Gene: BTNL2

Alternate names for this Gene: BTL-II|BTN7|HSBLMHC1|SS2

Gene Summary: This gene encodes a major histocompatibility complex, class II associated, type I transmembrane protein which belongs to the butyrophilin-like B7 family of immunoregulators. It is thought to be involved in immune surveillance, serving as a negative T-cell regulator by decreasing T-cell proliferation and cytokine release. The encoded protein contains an N-terminal signal peptide, two pairs of immunoglobulin-like domains, separated by a heptad peptide sequence, and a C-terminal transmembrane domain. Naturally occurring mutations in this gene are associated with sarcoidosis, rheumatoid arthritis, ulcerative colitis, inflammatory bowel disease, myositis, type 1 diabetes, systemic lupus erythematosus, acute coronary syndrome, and prostate cancer.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: butyrophilin like 2

Type of Gene: protein-coding

rs3817963 in TSBP1-AS1;BTNL2 gene and Adenocarcinoma of lung (disorder) PMID 22797724 2012 A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.

PMID 27501781 2016 Association of variations in HLA class II and other loci with susceptibility to EGFR-mutated lung adenocarcinoma.

rs2294882 in TSBP1-AS1;BTNL2 gene and Allergic Reaction PMID 23817569 2013 A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.

rs3763309 in TSBP1-AS1;BTNL2 gene and Asthma PMID 29273806 2018 Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.

PMID 21907864 2011 Identification of IL6R and chromosome 11q13.5 as risk loci for asthma.

rs2076530 in TSBP1-AS1;BTNL2 gene and Diabetes Mellitus, Insulin-Dependent PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

rs10947262 in TSBP1-AS1;BTNL2 gene and Epstein-Barr Virus Infections PMID 23326239 2013 A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).

rs3117116 in TSBP1-AS1;BTNL2 gene and Lung Diseases, Interstitial PMID 23583980 2013 Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.

rs2076530 in TSBP1-AS1;BTNL2 gene and Multiple Sclerosis PMID 17660530 2007 Risk alleles for multiple sclerosis identified by a genomewide study.

PMID 23472185 2013 Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.

rs2076530 in TSBP1-AS1;BTNL2 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs10947262 in TSBP1-AS1;BTNL2 gene and Osteoarthritis, Knee PMID 20305777 2010 New sequence variants in HLA class II/III region associated with susceptibility to knee osteoarthritis identified by genome-wide association study.

rs3763309 in TSBP1-AS1;BTNL2 gene and Pemphigus Vulgaris PMID 22437316 2012 Population-specific association between a polymorphic variant in ST18, encoding a pro-apoptotic molecule, and pemphigus vulgaris.

rs10947260 in TSBP1-AS1;BTNL2 gene and Rheumatoid Arthritis PMID 21156761 2011 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.

PMID 17159887 2007 Genomic DNA pooling for whole-genome association scans in complex disease: empirical demonstration of efficacy in rheumatoid arthritis.

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

PMID 24449572 2014 Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.

PMID 19503088 2009 REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

rs2076520 in TSBP1-AS1;BTNL2 gene and Sarcoidosis PMID 22952805 2012 Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility.

PMID 22936702 2013 Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis.

rs2076529 in TSBP1-AS1;BTNL2 gene and Waist-Hip Ratio PMID 20935629 2010 Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.