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

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

rs144391488 in BTNL2;TSBP1-AS1 gene and Alkaline phosphatase measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs2294881 in BTNL2;TSBP1-AS1 gene and Allergic Reaction PMID 23817569 2013 A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.

rs1980493 in BTNL2;TSBP1-AS1 gene and Anti-cyclic citrullinated peptide antibody PMID 19287509 2009 Genome-wide association study of determinants of anti-cyclic citrullinated peptide antibody titer in adults with rheumatoid arthritis.

rs1980493 in BTNL2;TSBP1-AS1 gene and Anti-cyclic citrullinated peptide antibody level PMID 19287509 2009 Genome-wide association study of determinants of anti-cyclic citrullinated peptide antibody titer in adults with rheumatoid arthritis.

rs116020758 in BTNL2;TSBP1-AS1 gene and Asthma PMID 27611488 2017 Identification of Four Novel Loci in Asthma in European American and African American Populations.

rs1980493 in BTNL2;TSBP1-AS1 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.

rs10947261 in BTNL2;TSBP1-AS1 gene and Crohn Disease PMID 23850713 2014 Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.

rs1980493 in BTNL2;TSBP1-AS1 gene and Diabetes Mellitus, Insulin-Dependent PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

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

rs10947261 in BTNL2;TSBP1-AS1 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).

rs1980493 in BTNL2;TSBP1-AS1 gene and Frontotemporal dementia PMID 24943344 2014 Frontotemporal dementia and its subtypes: a genome-wide association study.

rs146109634 in BTNL2;TSBP1-AS1 gene and Hemoglobin measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs1980493 in BTNL2;TSBP1-AS1 gene and Lupus Erythematosus, Systemic PMID 24871463 2014 GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.

rs9461741 in BTNL2;TSBP1-AS1 gene and Marginal Zone B-Cell Lymphoma PMID 25569183 2015 Here we perform a two-stage GWAS of 1,281 MZL cases and 7,127 controls of European ancestry and identify two independent loci near BTNL2 (rs9461741, P=3.95 × 10(-15)) and HLA-B (rs2922994, P=2.43 × 10(-9)) in the HLA region significantly associated with MZL risk.

rs1980493 in BTNL2;TSBP1-AS1 gene and Membranous glomerulonephritis PMID 21323541 2011 Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.

rs2076533 in BTNL2;TSBP1-AS1 gene and Multiple Sclerosis PMID 17660530 2007 Risk alleles for multiple sclerosis identified by a genomewide study.

rs1980493 in BTNL2;TSBP1-AS1 gene and Myasthenia Gravis PMID 23055271 2012 Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08.

rs10947261 in BTNL2;TSBP1-AS1 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs2076531 in BTNL2;TSBP1-AS1 gene and Non-obstructive azoospermia PMID 22541561 2012 A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermia.

rs10947261 in BTNL2;TSBP1-AS1 gene and Rheumatoid Arthritis PMID 21156761 2011 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative 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 17159887 2007 Genomic DNA pooling for whole-genome association scans in complex disease: empirical demonstration of efficacy in rheumatoid arthritis.

rs2076524 in BTNL2;TSBP1-AS1 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.

rs28362683 in BTNL2;TSBP1-AS1 gene and Vitiligo PMID 21326295 2011 Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset.

PMID 20410501 2010 Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.

PMID 22561518 2012 Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.