Property Summary

NCBI Gene PubMed Count 77
PubMed Score 348.28
PubTator Score 114.05

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
medulloblastoma, large-cell 1.100 4.0e-04
ovarian cancer 1.200 5.3e-11

Gene RIF (65)

PMID Text
26679868 BTNL2 may have an inhibitory effect on FOXP3(+) T cell proliferation, especially in patients homozygous for the risk alleles.
26617759 genetic mutations within or around BTNL2 (rs3763313, rs9268494, rs9268492 and rs9268402) could alter susceptibility to grade IV of dilated cardiomyopathy in a Chinese population
25849037 BTNL2 rs2076530 polymorphism contributes to the risk of sarcoidosis
25671699 The association of the rare variant p.G454C in BTNL2 reached genome-wide significance, and was independent of the known common risk variants for IBD in the HLA region in both a conditional and haplotype analysis
25569183 Two independent loci near BTNL2 (rs9461741) and HLA-B (rs2922994) in the HLA region significantly associated with Marginal Zone B-Cell Lymphoma risk.
25551927 No variation except in the 329-bp region containing the BTNL2 rs2076530 polymorphism was found in Turkish patients with sarcoidosis.
25078641 Results confirm the association of BTNL2 rs2076530SNP with the susceptibility to develop sarcoidosis, but not with an increased risk of cancer in these patients.
24664813 These findings suggest that polymorphisms in the BTNL2 gene might play a vital role in determining the outcome of the immune response to hepatitis B vaccination.
23904553 the BTNL2 splice site polymorphism (A variant of rs2076530) shows association with an increased risk for persistent sarcoidosis
23833122 Rare BTNL2 variants play a role in susceptibility to both familial and sporadic prostate cancer. Results implicate BTNL2 as a novel prostate cancer susceptibility gene.
23364395 sequenced single-nucleotide variants in an association study of 432 cases and 432 controls showed that 12 non-synonymous single-nucleotide polymorphisms (SNPs) in BTNL2 were significantly associated with RA
23017494 Results show that single nucleotide polymorphism associated with BTNL2 gene is a risk factor for predisposition pulmonary sarcoidosis
22991420 Upon stratification analysis in search for a synergistic effect in sarcoidosis given the extensive linkage disequilibrium between BTNL2 rs2076530_A and HLA-DRB1*08:03; the risk-bearing allele of these two loci interact negatively.
22071774 We unravel the role of unexplored immunologically important genes, BAT1 and BTNL2, and the haplotypes of the significantly associated SNPs therein, to understand susceptibility to the disease, leprosy and its differential severity.
21853121 The rs10947262 and rs7775228 variants are not associated with risk of knee osteoarthritis in European descent populations.
21410903 The BTNL2 A allele variant occurs with a high frequency in Danish patients with sarcoidosis
21256912 The presence of a BTNL2G16071A variant allele almost doubles the risk of progressing to persistent pulmonary sarcoidosis in addition to increasing the risk of developing sarcoidosis.
21072187 Observational study of gene-disease association. (HuGE Navigator)
20691797 Observational study of gene-disease association. (HuGE Navigator)
20587610 Observational study of gene-disease association. (HuGE Navigator)
20560297 the absence of a membrane anchored BTNL2 protein may increase genetic susceptibility to sarcoidosis and familial occurrence of the disease.
20453000 Observational study of gene-disease association. (HuGE Navigator)
20378664 Observational study of gene-disease association. (HuGE Navigator)
20305777 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20237496 Observational study of gene-disease association. (HuGE Navigator)
20176143 This genetic study reveals a significant association between the rs3763313, rs9268494, rs9268492 SNPs in the BTNL2 gene and tuberculosis.
20176143 Observational study of gene-disease association. (HuGE Navigator)
19936222 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19882345 preliminary data suggest that BTNL2 polymorphism may be associated with susceptibility to Kawasaki disease and coronary artery lesions in Taiwanese children
19882345 Observational study of gene-disease association. (HuGE Navigator)
19861958 Observational study of gene-disease association. (HuGE Navigator)
19851445 Observational study of gene-disease association. (HuGE Navigator)
19760754 Observational study of gene-disease association. (HuGE Navigator)
19659809 Single-nucleotide polymorphism in the BTNL2 gene is associated with ulcerative colitis.
19659809 Observational study of gene-disease association. (HuGE Navigator)
19287509 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19143814 Observational study of gene-disease association. (HuGE Navigator)
19140834 The CNV_ID 507 was tested for association in a cohort of 89 sarcoidosis patients and 89 matched controls, but our results indicated that CNV_ID 507 does not affect the genomic structure of BTLN2 as previously described
19140834 Observational study of gene-disease association. (HuGE Navigator)
19122664 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19122664 Genome-wide significant evidence for association was found in a region spanning BTNL2 to HLA-DQB1 on chromosome 6p21 for ulcerative colitis.
19116923 Observational study of gene-disease association. (HuGE Navigator)
19050377 BTNL2 gene might be one of the candidate genes that is responsible for the pathogenesis of Dermatophagoides farinae (Der f)-specific IgE responsiveness.
19050377 Observational study of gene-disease association. (HuGE Navigator)
18987644 Observational study of gene-disease association. (HuGE Navigator)
17927685 Both DRB1*13 and BTNL2 rs3117099TT homozygosity are associated with chronic beryllium disease [CBD] in *Glu69-negative subjects, while DPB1*Glu69 is associated with CBD and Be sensitivity compared with Be exposed
17661910 Observational study of gene-disease association. (HuGE Navigator)
17661910 Some haplotypes are associated with non-Lofgren sarcoidosis.
17610417 Observational study of gene-disease association. (HuGE Navigator)
17610417 Does not contribute to susceptibility to Crohn's disease in Japan but is associated with Japanese ulcerative colitis because of strong linkage disequilibrium with HLA-DRB1*1502.
17493147 Observational study of gene-disease association. (HuGE Navigator)
17493147 a major effect of the BTNL2 rs2076530 (G --> A) SNP in Crohn's disease and tuberculosis was excluded; there was an association with susceptibility to leprosy (P=0.04), however, this is most likely due to linkage disequilibrium with HLA-DR
17347014 Observational study of gene-disease association. (HuGE Navigator)
17347014 Coding regions of BTNL2 were sequenced to detect known and novel polymorphisms and genotyped 18 SNPs in 432 pulmonary tuberculosis cases and 482 controls.
17237401 Structural analysis of BTNL2 shows a molecule with an extracellular region containing two sets of two Ig domains, a transmembrane region, and a previously unreported cytoplasmic tail
17170388 RAGE and its ligands with sarcoidosis and suggest that an intrinsic genetic factor could be in part involved in its expression. In Italian patients, the -374 T/A polymorphism seems to be significantly associated with this disease.
16984233 Observational study of gene-disease association. (HuGE Navigator)
16690410 Observational study of gene-disease association. (HuGE Navigator)
16690410 resiults show that BTNL2 rs2076530 polymorphism is associated with type 1 diabetes, rheumatoid arthritis, and systemic lupus erythematosus because of its strong linkage disequalibrium with predisposing HLA DQB1-DRB1 haplotypes in Caucasian populations
16321988 Observational study of gene-disease association. (HuGE Navigator)
16321988 Association of the truncating splice site mutation in BTNL2 with multiple sclerosis is secondary to HLA-DRB1*15.
16080124 Observational study of gene-disease association. (HuGE Navigator)
16080124 BNTL2 associates with sarcoidosis in both White Americans and African-Americans, with risk effects in Whites independent of HLA-DRB1 associations, and negative interactions between BRNL2 and HLA classII in African-Americans.
15735647 Observational study of gene-disease association. (HuGE Navigator)
15735647 Sarcoidosis is associated with a truncating splice site mutation in BTNL2

AA Sequence

MVDFPGYNLSGAVASFLFILLTMKQSEDFRVIGPAHPILAGVGEDALLTCQLLPKRTTMHVEVRWYRSEP      1 - 70
STPVFVHRDGVEVTEMQMEEYRGWVEWIENGIAKGNVALKIHNIQPSDNGQYWCHFQDGNYCGETSLLLK     71 - 140
VAGLGSAPSIHMEGPGESGVQLVCTARGWFPEPQVYWEDIRGEKLLAVSEHRIQDKDGLFYAEATLVVRN    141 - 210
ASAESVSCLVHNPVLTEEKGSVISLPEKLQTELASLKVNGPSQPILVRVGEDIQLTCYLSPKANAQSMEV    211 - 280
RWDRSHRYPAVHVYMDGDHVAGEQMAEYRGRTVLVSDAIDEGRLTLQILSARPSDDGQYRCLFEKDDVYQ    281 - 350
EASLDLKVVSLGSSPLITVEGQEDGEMQPMCSSDGWFPQPHVPWRDMEGKTIPSSSQALTQGSHGLFHVQ    351 - 420
TLLRVTNISAVDVTCSISIPFLGEEKIATFSLSGW                                       421 - 455
//

Text Mined References (79)

PMID Year Title
26679868 2016 Novel 6p21.3 Risk Haplotype Predisposes to Acute Coronary Syndrome.
26617759 2015 Association of genetic polymorphisms on BTNL2 with susceptibility to and prognosis of dilated cardiomyopathy in a Chinese population.
25849037 2015 BTNL2 gene polymorphism and sarcoidosis susceptibility: a meta-analysis.
25671699 2015 Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.
25569183 2015 A genome-wide association study of marginal zone lymphoma shows association to the HLA region.
25551927 2014 Is there a genetic predisposition for Turkish patients with sarcoidosis in the 329-bp region containing the BTNL2 rs2076530 polymorphism?
25078641 2014 Lack of correlation of BTNL2 polymorphism and cancer risk in sarcoidosis. BTNL2 and cancer risk in sarcoidosis.
24962563 2014 Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens.
24943344 2014 Frontotemporal dementia and its subtypes: a genome-wide association study.
24664813 2014 BTNL2 associated with the immune response to hepatitis B vaccination in a Chinese Han population.
24449572 2014 Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.
24282030 2014 A genome-wide association study identifies polymorphisms in the HLA-DR region associated with non-response to hepatitis B vaccination in Chinese Han populations.
23904553 2013 Major histocompatibility complex class II and BTNL2 associations in sarcoidosis.
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.
23833122 2013 Germline missense variants in the BTNL2 gene are associated with prostate cancer susceptibility.
23535732 2013 Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
23472185 2013 Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.
23364395 2013 Exome sequencing identifies novel rheumatoid arthritis-susceptible variants in the BTNL2.
23321320 2013 A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.
23028483 2012 Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA.
23028341 2012 Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.
23017494 2012 BTNL2 gene polymorphism associations with susceptibility and phenotype expression in sarcoidosis.
22991420 2012 Genetic characterization and susceptibility for sarcoidosis in Japanese patients: risk factors of BTNL2 gene polymorphisms and HLA class II alleles.
22936702 2013 Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis.
22797724 2012 A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.
22751097 2012 Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.
22071774 2012 Association of variants in BAT1-LTA-TNF-BTNL2 genes within 6p21.3 region show graded risk to leprosy in unrelated cohorts of Indian population.
21853121 2011 Large scale replication study of the association between HLA class II/BTNL2 variants and osteoarthritis of the knee in European-descent populations.
21804548 2011 Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.
21410903 2011 The BTNL2 A allele variant is frequent in Danish patients with sarcoidosis.
21326295 2011 Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset.
21323541 2011 Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.
21297633 2011 Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
21256912 2011 Butyrophilin-like 2 in pulmonary sarcoidosis: a factor for susceptibility and progression?
21072187 2010 Evidence for significant overlap between common risk variants for Crohn's disease and ankylosing spondylitis.
20935629 2010 Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
20691797 2010 Association of single-nucleotide polymorphisms in HLA class II/III region with knee osteoarthritis.
20587610 2010 Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection.
20560297 2009 Homozygous variant rs2076530 of BTNL2 and familial sarcoidosis.
20453000 2010 A Large-scale genetic association study of esophageal adenocarcinoma risk.
20410501 2010 Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.
20378664 2010 Analysis of multiple candidate genes in association with phenotypes of multiple sclerosis.
20305777 2010 New sequence variants in HLA class II/III region associated with susceptibility to knee osteoarthritis identified by genome-wide association study.
20237496 2010 New genetic associations detected in a host response study to hepatitis B vaccine.
20176143 2010 Analysis of the association between BTNL2 polymorphism and tuberculosis in Chinese Han population.
20041166 2009 Common genetic variation and the control of HIV-1 in humans.
19936222 2009 Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
19915573 2009 A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.
19882345 2010 BTNL2 gene polymorphisms may be associated with susceptibility to Kawasaki disease and formation of coronary artery lesions in Taiwanese children.
19861958 2010 Genetic analysis in a Dutch study sample identifies more ulcerative colitis susceptibility loci and shows their additive role in disease risk.
19851445 2009 High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
19760754 2010 Analysis of 39 Crohn's disease risk loci in Swedish inflammatory bowel disease patients.
19659809 2009 Confirmation of the novel association at the BTNL2 locus with ulcerative colitis.
19458352 2009 Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.
19287509 Genome-wide association study of determinants of anti-cyclic citrullinated peptide antibody titer in adults with rheumatoid arthritis.
19143814 2009 Several loci in the HLA class III region are associated with T1D risk after adjusting for DRB1-DQB1.
19140834 2009 Extended genetic analysis of BTNL2 in sarcoidosis.
19122664 2009 Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.
19116923 2009 Genetic association of the major histocompatibility complex with rheumatoid arthritis implicates two non-DRB1 loci.
19050377 2009 Genetic impact of a butyrophilin-like 2 (BTNL2) gene variation on specific IgE responsiveness to Dermatophagoides farinae (Der f) in Japanese.
18987644 2009 Genetic variants of the HLA-A, HLA-B and AIF1 loci show independent associations with type 1 diabetes in Norwegian families.
18836448 2008 Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility.
17927685 2007 BTNL2 allele associations with chronic beryllium disease in HLA-DPB1*Glu69-negative individuals.
17661910 2007 Analysis of BTNL2 genetic polymorphisms in British and Dutch patients with sarcoidosis.
17610417 2007 Butyrophilin-like 2 gene is associated with ulcerative colitis in the Japanese under strong linkage disequilibrium with HLA-DRB1*1502.
17493147 2007 Analysis of the BTNL2 truncating splice site mutation in tuberculosis, leprosy and Crohn's disease.
17347014 2007 Allelic variation in BTNL2 and susceptibility to tuberculosis in a South African population.
17237401 2007 BTNL2, a butyrophilin/B7-like molecule, is a negative costimulatory molecule modulated in intestinal inflammation.
17170388 2007 Expression of receptor for advanced glycation end products in sarcoid granulomas.
16984233 2006 Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74.
16690410 2005 Analysis of a functional BTNL2 polymorphism in type 1 diabetes, rheumatoid arthritis, and systemic lupus erythematosus.
16321988 2006 Association of the truncating splice site mutation in BTNL2 with multiple sclerosis is secondary to HLA-DRB1*15.
16080124 2005 The BTNL2 gene and sarcoidosis susceptibility in African Americans and Whites.
15735647 2005 Sarcoidosis is associated with a truncating splice site mutation in BTNL2.
15516930 2004 Widespread occurrence of alternative splicing at NAGNAG acceptors contributes to proteome plasticity.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10803852 2000 BTL-II: a polymorphic locus with homology to the butyrophilin gene family, located at the border of the major histocompatibility complex class II and class III regions in human and mouse.