Gene Symbol: CLEC16A
Description: C-type lectin domain containing 16A
Alias: Gop-1, KIAA0350, protein CLEC16A, C-type lectin domain family 16 member A
Species: human
Products:     CLEC16A

Top Publications

  1. Zoledziewska M, Costa G, Pitzalis M, Cocco E, Melis C, Moi L, et al. Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia. Genes Immun. 2009;10:15-7 pubmed publisher
    Variation within intron 19 of the CLEC16A (KIAA0350) gene region was recently found to be unequivocally associated with type 1 diabetes (T1D) in genome-wide association (GWA) studies in Northern European populations...
  2. Hakonarson H, Grant S, Bradfield J, Marchand L, Kim C, Glessner J, et al. A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. Nature. 2007;448:591-4 pubmed
    ..This region contains KIAA0350, the gene product of which is predicted to be a sugar-binding, C-type lectin...
  3. Skinningsrud B, Lie B, Husebye E, Kvien T, Førre Ø, Flatø B, et al. A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis. Ann Rheum Dis. 2010;69:1471-4 pubmed publisher
    Variants in CLEC16A have conferred susceptibility to autoimmune diseases in genome-wide association studies...
  4. Wu X, Zhu X, Wang X, Ma J, Zhu S, Li J, et al. Intron polymorphism in the KIAA0350 gene is reproducibly associated with susceptibility to type 1 diabetes (T1D) in the Han Chinese population. Clin Endocrinol (Oxf). 2009;71:46-9 pubmed publisher
    ..association studies in white populations have reported that single nucleotide polymorphisms (SNPs) in the KIAA0350 gene are associated with susceptibility to type 1 diabetes (T1D)...
  5. . Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20. Nat Genet. 2009;41:824-8 pubmed publisher
    ..0 x 10(-184); cd58, p = 9.6 x 10(-8); evi5-rpl5, p = 2.5 x 10(-6); il2ra, p = 7.4 x 10(-6); clec16a, p = 1.1 x 10(-4); il7r, p = 1.3 x 10(-3); tyk2, p = 3...
  6. Marquez A, Varadé J, Robledo G, Martinez A, Mendoza J, Taxonera C, et al. Specific association of a CLEC16A/KIAA0350 polymorphism with NOD2/CARD15(-) Crohn's disease patients. Eur J Hum Genet. 2009;17:1304-8 pubmed publisher
    Independent genome-wide association studies highlighted the function of CLEC16A/KIAA0350 polymorphisms modifying the risk to either multiple sclerosis (rs6498169) or type 1 diabetes (rs2903692)...
  7. Martinez A, Perdigones N, Cenit M, Espino L, Varadé J, Lamas J, et al. Chromosomal region 16p13: further evidence of increased predisposition to immune diseases. Ann Rheum Dis. 2010;69:309-11 pubmed publisher
    ..This region includes the CLEC16A/KIAA0350 gene and an adjacent gene, MHC2TA (MHC class II transactivator), previously associated with susceptibility to MS ..
  8. Awata T, Kawasaki E, Tanaka S, Ikegami H, Maruyama T, Shimada A, et al. Association of type 1 diabetes with two Loci on 12q13 and 16p13 and the influence coexisting thyroid autoimmunity in Japanese. J Clin Endocrinol Metab. 2009;94:231-5 pubmed publisher
    ..Two single-nucleotide polymorphisms (SNPs), rs2292399 in ERBB3 on 12q13 and rs2903692 in CLEC16A (or KIAA0350) on 16p13, were analyzed in Japanese subjects consisting of 735 T1D patients, 330 patients with autoimmune ..
  9. . The expanding genetic overlap between multiple sclerosis and type I diabetes. Genes Immun. 2009;10:11-4 pubmed publisher
    ..Two of these seven SNPs showed evidence of association with multiple sclerosis; that is rs12708716 from the CLEC16A gene (P=1.6 x 10(-16)) and rs763361 from the CD226 gene (P=5.4 x 10(-8))...

More Information


  1. Smyth D, Plagnol V, Walker N, Cooper J, Downes K, Yang J, et al. Shared and distinct genetic variants in type 1 diabetes and celiac disease. N Engl J Med. 2008;359:2767-77 pubmed publisher
    ..These data suggest that common biologic mechanisms, such as autoimmunity-related tissue damage and intolerance to dietary antigens, may be etiologic features of both diseases. ..
  2. Rubio J, Stankovich J, Field J, Tubridy N, Marriott M, Chapman C, et al. Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians. Genes Immun. 2008;9:624-30 pubmed publisher
    ..corresponding to a different non-human leukocyte antigen (HLA) gene, were associated with disease susceptibility: KIAA0350 (rs6498169) P=0.001, IL2RA (rs2104286) P=0.033, RPL5 (rs6604026) P=0.041 and CD58 (rs12044852) P=0.042...
  3. Gateva V, Sandling J, Hom G, Taylor K, Chung S, Sun X, et al. A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. Nat Genet. 2009;41:1228-33 pubmed publisher
    ..with other autoimmune diseases suggested five loci (P < 1 x 10(-3)) that may contribute to SLE: IFIH1, CFB, CLEC16A, IL12B and SH2B3...
  4. Skinningsrud B, Husebye E, Pearce S, McDonald D, Brandal K, Wolff A, et al. Polymorphisms in CLEC16A and CIITA at 16p13 are associated with primary adrenal insufficiency. J Clin Endocrinol Metab. 2008;93:3310-7 pubmed publisher
    ..nucleotide polymorphisms (SNPs) in 11 candidate genes (IL2, IL21, IL2RA, CLEC2D, CD69, ERBB3, PTPN11, SH2B3, CLEC16A, CIITA, and PTPN2) were genotyped in a case/control study design consisting of Norwegian Addison's disease ..
  5. Hafler D, Compston A, Sawcer S, Lander E, Daly M, De Jager P, et al. Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med. 2007;357:851-62 pubmed
    ..94x10(-7)) and multiple SNPs in the HLA-DRA locus (P=8.94x10(-81)). Alleles of IL2RA and IL7RA and those in the HLA locus are identified as heritable risk factors for multiple sclerosis. ..
  6. Todd J, Walker N, Cooper J, Smyth D, Downes K, Plagnol V, et al. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet. 2007;39:857-64 pubmed
    ..Several regions, including 18q22 and 18p11, showed association with autoimmune thyroid disease. This study increases the number of T1D loci with compelling evidence from six to at least ten. ..
  7. Johnson B, Wang J, Taylor E, Caillier S, Herbert J, Khan O, et al. Multiple sclerosis susceptibility alleles in African Americans. Genes Immun. 2010;11:343-50 pubmed publisher
    ..CD6, CLEC16a, EVI5, GPC5, and TYK2 contained SNPs that are associated with MS risk in the African American data set...
  8. Akkad D, Bellenberg B, Esser S, Weiler F, Epplen J, Gold R, et al. Multiple sclerosis risk loci correlate with cervical cord atrophy and may explain the course of disability. Neurogenetics. 2015;16:161-8 pubmed publisher
    ..IL7, PLEK, EVI5, TAGAP and nrs669607-patients revealed significantly higher degree of atrophy; TYK2, RGS1 and CLEC16A revealed inverse effects...
  9. Soleimanpour S, Ferrari A, Raum J, Groff D, Yang J, Kaufman B, et al. Diabetes Susceptibility Genes Pdx1 and Clec16a Function in a Pathway Regulating Mitophagy in β-Cells. Diabetes. 2015;64:3475-84 pubmed publisher
    ..expression microarray and chromatin occupancy analyses reveal that Pdx1 regulates the expression of Clec16a, a type 1 diabetes gene and itself a key mediator of mitophagy through regulation of the E3 ubiquitin ligase ..
  10. Cooper J, Walker N, Smyth D, Downes K, Healy B, Todd J. Follow-up of 1715 SNPs from the Wellcome Trust Case Control Consortium genome-wide association study in type I diabetes families. Genes Immun. 2009;10 Suppl 1:S85-94 pubmed publisher
    ..In addition to the support for previously identified loci (PTPN22/1p13; ERBB3/12q13; SH2B3/12q24; CLEC16A/16p13; UBASH3A/21q22), evidence supporting two new and distinct chromosome locations associated with T1D was ..
  11. Howson J, Rosinger S, Smyth D, Boehm B, Todd J. Genetic analysis of adult-onset autoimmune diabetes. Diabetes. 2011;60:2645-53 pubmed publisher
    ..2), CTLA4 (2q33.2), HLA (6p21), IL2RA (10p15.1), INS (11p15.5), ERBB3 (12q13.2), SH2B3 (12q24.12), and CLEC16A (16p13.13) were convincingly associated with autoimmune diabetes in adults (P ≤ 0...
  12. Berge T, Leikfoss I, Harbo H. From Identification to Characterization of the Multiple Sclerosis Susceptibility Gene CLEC16A. Int J Mol Sci. 2013;14:4476-97 pubmed publisher
    ..Single nucleotide polymorphisms (SNPs) in the C-type lectin-like domain family 16A (CLEC16A) gene were among the first non-HLA genetic variants that were confirmed to be associated with MS...
  13. Raum J, Soleimanpour S, Groff D, Coré N, Fasano L, Garratt A, et al. Tshz1 Regulates Pancreatic β-Cell Maturation. Diabetes. 2015;64:2905-14 pubmed publisher
    ..glucose intolerance due to defects in glucose-stimulated insulin secretion associated with reduced Pdx1 and Clec16a expression in Tshz1(+/-) islets...
  14. Schuster C, Gerold K, Schober K, Probst L, Boerner K, Kim M, et al. The Autoimmunity-Associated Gene CLEC16A Modulates Thymic Epithelial Cell Autophagy and Alters T Cell Selection. Immunity. 2015;42:942-52 pubmed publisher
    b>CLEC16A variation has been associated with multiple immune-mediated diseases, including type 1 diabetes, multiple sclerosis, systemic lupus erythematosus, celiac disease, Crohn's disease, Addison's disease, primary biliary cirrhosis, ..
  15. Kottyan L, Maddox A, Braxton J, Stucke E, Mukkada V, Putnam P, et al. Genetic variants at the 16p13 locus confer risk for eosinophilic esophagitis. Genes Immun. 2019;20:281-292 pubmed publisher
    ..05 × 10-9, odds ratio = 0.76-0.81). This region is known to encode for the genes CLEC16A, DEXI, and CIITI, which are expressed in immune cells and esophageal epithelial cells...
  16. dos Santos R, Marroquí L, Velayos T, Olazagoitia Garmendia A, Jauregi Miguel A, Castellanos Rubio A, et al. DEXI, a candidate gene for type 1 diabetes, modulates rat and human pancreatic beta cell inflammation via regulation of the type I IFN/STAT signalling pathway. Diabetologia. 2019;62:459-472 pubmed publisher
    ..Chromosome 16p13 is associated with type 1 diabetes and CLEC16A is thought to be the aetiological gene in the region...
  17. Jiang T, Sui Z, Yang Q, Zhang X, Han B. Preparation and characterization of a composite hydrogel with graphene oxide as an acid catalyst. Soft Matter. 2015;11:3215-21 pubmed publisher
    ..1 wt%), in sharp contrast to that of graphene oxide (7.4 wt%). Furthermore, the as-prepared composite hydrogel may possess attractive potential in the fields of electrode material, tissue engineering, and water treatment. ..
  18. Pandey R, Bakay M, Hain H, Strenkowski B, Elsaqa B, Roizen J, et al. CLEC16A regulates splenocyte and NK cell function in part through MEK signaling. PLoS ONE. 2018;13:e0203952 pubmed publisher
    b>CLEC16A is implicated in multiple autoimmune diseases. We generated Clec16a inducible knockout (KO) mice to examine the functional link between CLEC16A auto-inflammation and autoimmunity...
  19. Davison L, Cooper J, Cope N, Wilson N, Smyth D, Howson J, et al. Long-range DNA looping and gene expression analyses identify DEXI as an autoimmune disease candidate gene. Hum Mol Genet. 2012;21:322-33 pubmed publisher
    ..b>CLEC16A has been reported as the most likely candidate gene in the region, since it contains the most disease-associated ..
  20. Kulakova O, Bashinskaya V, Kiselev I, Baulina N, Tsareva E, Nikolaev R, et al. Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis: the impact of genome-wide association studies identified disease risk loci. Pharmacogenomics. 2017;18:1563-1574 pubmed publisher
    ..Alleles/genotypes of EOMES, CLEC16A, IL22RA2, PVT1 and HLA-DRB1 were associated by themselves with event-free phenotype during GA treatment for at ..
  21. Shen H, Lu Z, Xu Z, Shen Z. Diet-induced reconstruction of mucosal microbiota associated with alterations of epithelium lectin expression and regulation in the maintenance of rumen homeostasis. Sci Rep. 2017;7:3941 pubmed publisher
    ..4, member E (CLEC4E), C-type lectin domain family 7, member A (CLEC7A), C-type lectin domain family 16, member A (CLEC16A), and lectin, mannose-binding 2 (LMAN2), were indicated to promote the expression of 8 tolerogenic cytokines, ..
  22. Bronson P, Chang D, Bhangale T, Seldin M, Ortmann W, Ferreira R, et al. Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency. Nat Genet. 2016;48:1425-1429 pubmed publisher
    ..3 × 10-11; ATG13-AMBRA1, P = 6.7 × 10-10; AHI1, P = 8.4 × 10-10; CLEC16A, P = 1...
  23. Proust C, Empana J, Boutouyrie P, Alivon M, Challande P, Danchin N, et al. Contribution of Rare and Common Genetic Variants to Plasma Lipid Levels and Carotid Stiffness and Geometry: A Substudy of the Paris Prospective Study 3. Circ Cardiovasc Genet. 2015;8:628-36 pubmed publisher
    ..2%, P<2.4×10(-5)). A significant association was observed between the common rs2903692 polymorphism of the CLEC16A gene and the internal diameter (P<4.3×10(-7))...
  24. Elboudwarej E, Cole M, Briggs F, Fouts A, Fain P, Quach H, et al. Hypomethylation within gene promoter regions and type 1 diabetes in discordant monozygotic twins. J Autoimmun. 2016;68:23-9 pubmed publisher
    ..differences between discordant MZ twins for the MHC region and T1D-associated CpG sites, BACH2, INS-IGF2, and CLEC16A (DNAm difference range: 2.2%-5.0%)...
  25. Redmann V, Lamb C, Hwang S, Orchard R, Kim S, Razi M, et al. Clec16a is Critical for Autolysosome Function and Purkinje Cell Survival. Sci Rep. 2016;6:23326 pubmed publisher
    b>CLEC16A is in a locus genetically linked to autoimmune diseases including multiple sclerosis, but the function of this gene in the nervous system is unknown...
  26. Perera D, Stankovich J, Butzkueven H, Taylor B, Foote S, Kilpatrick T, et al. Fine mapping of multiple sclerosis susceptibility genes provides evidence of allelic heterogeneity at the IL2RA locus. J Neuroimmunol. 2009;211:105-9 pubmed publisher
    ..To dissect further the involvement of four recent identified MS susceptibility genes (KIAA0350, IL2RA, RPL5 and CD58) in disease pathogenesis, we genotyped 94 haplotype-tagging single nucleotide polymorphisms ..
  27. Vargas Alarcon G, Ramírez Bello J, Angeles Martínez J, Rodriguez Perez J, Perez Hernandez N, Posadas Romero C, et al. Association of the C-type lectin-like domain family-16A (CLEC16A) gene polymorphisms with acute coronary syndrome in Mexican patients. Immunol Lett. 2014;162:247-51 pubmed publisher
    The CLEC16A gene has an important role in the immune activation and regulation inflammatory. This gene encodes to C-type lectin domain that is involved in the recognition of DAMPS...
  28. Newton Cheh C, Eijgelsheim M, Rice K, de Bakker P, Yin X, Estrada K, et al. Common variants at ten loci influence QT interval duration in the QTGEN Study. Nat Genet. 2009;41:399-406 pubmed publisher
    ..5% of the variation in QT interval. These results, together with an accompanying paper, offer insights into myocardial repolarization and suggest candidate genes that could predispose to sudden cardiac death and drug-induced arrhythmias. ..
  29. Tam R, Li M, Gao Y, Pang Y, Yan S, Ge W, et al. Human CLEC16A regulates autophagy through modulating mTOR activity. Exp Cell Res. 2017;352:304-312 pubmed publisher
    b>CLEC16A is genetically linked with multiple autoimmune disorders but its functional relevance in autoimmunity remains obscure. Recent evidence has signposted the emerging role of autophagy in autoimmune disease development...
  30. Swanberg M, McGuigan F, Ivaska K, Gerdhem P, Akesson K. Polymorphisms in the inflammatory genes CIITA, CLEC16A and IFNG influence BMD, bone loss and fracture in elderly women. PLoS ONE. 2012;7:e47964 pubmed publisher
    ..of functional polymorphisms in the MHC2TA gene (CIITA), and two additional genes; C-type lectin domain 16A (CLEC16A), in linkage disequilibrium with CIITA and Interferon-? (IFNG), an inducer of CIITA; on bone density, bone ..
  31. Plagnol V, Howson J, Smyth D, Walker N, Hafler J, Wallace C, et al. Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genet. 2011;7:e1002216 pubmed publisher
    ..Analysis of the TPOA-associated loci in 2,477 cases with Graves' disease identified two new AITD loci (BACH2 and UBASH3A). ..
  32. D Netto M, Ward H, Morrison K, Ramagopalan S, Dyment D, DeLuca G, et al. Risk alleles for multiple sclerosis in multiplex families. Neurology. 2009;72:1984-8 pubmed publisher
    ..The aggregate of the IL2RA, IL7R, EVI5, KIAA0350, and CD58 risk genotypes in affected individuals from multiplex families was found to be notably different from ..
  33. Li K, Hou S, Qi J, Kijlstra A, Yang P. A variant of CLEC16A gene confers protection for Vogt-Koyanagi-Harada syndrome but not for Behcet's disease in a Chinese Han population. Exp Eye Res. 2015;132:225-30 pubmed publisher
    ..The aim of this study was to investigate the association of C-type lectin domain family 16, member A (CLEC16A) gene polymorphisms with Vogt-Koyanagi-Harada syndrome and Behcet's disease in a Chinese Han population...
  34. Carr E, Niederer H, Williams J, Harper L, Watts R, Lyons P, et al. Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis. BMC Med Genet. 2009;10:121 pubmed publisher CTLA4, rs2069763 in IL2, rs10877012 in CYP27B1, rs2292239 in ERBB3, rs3184504 in SH2B3, rs12708716 in CLEC16A, rs1893217 and rs478582 in PTPN2 and rs763361 in CD226...
  35. Jensen C, Stankovich J, van der Walt A, Bahlo M, Taylor B, van der Mei I, et al. Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients. PLoS ONE. 2010;5:e10003 pubmed publisher
    ..MS) have identified and replicated several single nucleotide polymorphism (SNP) susceptibility loci including CLEC16A, IL2RA, IL7R, RPL5, CD58, CD40 and chromosome 12q13-14 in addition to the well established allele HLA-DR15...
  36. Bronson P, Ramsay P, Seldin M, Gregersen P, Criswell L, Barcellos L. A candidate gene study of CLEC16A does not provide evidence of association with risk for anti-CCP-positive rheumatoid arthritis. Genes Immun. 2010;11:504-8 pubmed publisher
    b>CLEC16A, a putative immunoreceptor, was recently established as a susceptibility locus for type I diabetes and multiple sclerosis...
  37. Tam R, Lee A, Yang W, Lau C, Chan V. Systemic Lupus Erythematosus Patients Exhibit Reduced Expression of CLEC16A Isoforms in Peripheral Leukocytes. Int J Mol Sci. 2015;16:14428-40 pubmed publisher
    ..The SLE susceptibility locus on chromosome 16p13 encodes a novel gene CLEC16A and its functional relationship with SLE is unclear...
  38. Li J, Jørgensen S, Maggadottir S, Bakay M, Warnatz K, Glessner J, et al. Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells. Nat Commun. 2015;6:6804 pubmed publisher
    ..We identify the first non-HLA genome-wide significant risk locus at CLEC16A (rs17806056, P=2...
  39. van Luijn M, Kreft K, Jongsma M, Mes S, Wierenga Wolf A, van Meurs M, et al. Multiple sclerosis-associated CLEC16A controls HLA class II expression via late endosome biogenesis. Brain. 2015;138:1531-47 pubmed publisher
    ..The C-type lectin CLEC16A gene is located at 16p13, a susceptibility locus for several autoimmune diseases, including multiple sclerosis...
  40. De Jager P, Chibnik L, Cui J, Reischl J, Lehr S, Simon K, et al. Integration of genetic risk factors into a clinical algorithm for multiple sclerosis susceptibility: a weighted genetic risk score. Lancet Neurol. 2009;8:1111-9 pubmed publisher
    ..Future iterations of the wGRS might therefore make a contribution to algorithms that can predict a diagnosis of MS in a clinical or research setting. ..
  41. Hirota T, Takahashi A, Kubo M, Tsunoda T, Tomita K, Sakashita M, et al. Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population. Nat Genet. 2012;44:1222-6 pubmed publisher
    ..These findings advance the understanding of the genetic basis of atopic dermatitis. ..
  42. Dema B, Martinez A, Fernandez Arquero M, Maluenda C, Polanco I, Angeles Figueredo M, et al. Autoimmune disease association signals in CIITA and KIAA0350 are not involved in celiac disease susceptibility. Tissue Antigens. 2009;73:326-9 pubmed publisher
    ..CIITA is located in 16p13, a region also containing KIAA0350 (CLEC16A), associated with two autoimmune diseases in genome-wide association studies...
  43. Zhang Z, Cheng Y, Zhou X, Li Y, Gao J, Han J, et al. Polymorphisms at 16p13 are associated with systemic lupus erythematosus in the Chinese population. J Med Genet. 2011;48:69-72 pubmed publisher
    ..The results suggested that the chromosomal region at 16p13 contains common susceptibility genes for different immune-mediated disorders. ..
  44. Soleimanpour S, Gupta A, Bakay M, Ferrari A, Groff D, Fadista J, et al. The diabetes susceptibility gene Clec16a regulates mitophagy. Cell. 2014;157:1577-90 pubmed publisher
    b>Clec16a has been identified as a disease susceptibility gene for type 1 diabetes, multiple sclerosis, and adrenal dysfunction, but its function is unknown...
  45. Yoshida T, Kato K, Yokoi K, Oguri M, Watanabe S, Metoki N, et al. Association of genetic variants with ischemic stroke in Japanese individuals with or without metabolic syndrome. Int J Mol Med. 2010;25:281-6 pubmed
    ..The initial chi-square test revealed that the Cright curved arrow T polymorphism (rs9925481) of CLEC16A and the Aright curved arrow G polymorphism (rs4923918) of SPTBN5 were significantly (P<0...
  46. De Jager P, Jia X, Wang J, de Bakker P, Ottoboni L, Aggarwal N, et al. Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. Nat Genet. 2009;41:776-82 pubmed publisher
  47. Bhatti P, Doody M, Rajaraman P, Alexander B, Yeager M, Hutchinson A, et al. Novel breast cancer risk alleles and interaction with ionizing radiation among U.S. radiologic technologists. Radiat Res. 2010;173:214-24 pubmed publisher
    ..Even though a complete understanding of the way(s) in which these variants may increase breast cancer risk remains elusive, this approach may yield clues for further investigation. ..
  48. Hirschfield G, Xie G, Lu E, Sun Y, Juran B, Chellappa V, et al. Association of primary biliary cirrhosis with variants in the CLEC16A, SOCS1, SPIB and SIAE immunomodulatory genes. Genes Immun. 2012;13:328-35 pubmed publisher
    We fine mapped two primary biliary cirrhosis (PBC) risk loci, CLEC16A (C-type lectin domain family 16 member A)-suppressor of cytokine signaling 1 (SOCS1) and Spi-B protein (SPIB) and sequenced a locus, sialic acid acetylesterase (SIAE), ..
  49. Hoppenbrouwers I, Aulchenko Y, Janssens A, Ramagopalan S, Broer L, Kayser M, et al. Replication of CD58 and CLEC16A as genome-wide significant risk genes for multiple sclerosis. J Hum Genet. 2009;54:676-80 pubmed publisher
    ..significant association with MS: HLA-DRA (P=8E-124), IL7R (P=6E-09), IL2RA (P=1E-11), CD58 (P=4E-09) and CLEC16A (P=3E-12). Therefore, genome-wide significance has now been shown for SNPs in different non-HLA MS risk genes...
  50. Pearson G, Chai B, Vozheiko T, Liu X, Kandarpa M, Piper R, et al. Clec16a, Nrdp1, and USP8 Form a Ubiquitin-Dependent Tripartite Complex That Regulates β-Cell Mitophagy. Diabetes. 2018;67:265-277 pubmed publisher
    ..assembly of a mitophagy regulatory complex, comprised of the E3 ligase Nrdp1, the deubiquitinase enzyme USP8, and Clec16a, a mediator of β-cell mitophagy with unclear function...
  51. Leikfoss I, Keshari P, Gustavsen M, Bjølgerud A, Brorson I, Celius E, et al. Multiple Sclerosis Risk Allele in CLEC16A Acts as an Expression Quantitative Trait Locus for CLEC16A and SOCS1 in CD4+ T Cells. PLoS ONE. 2015;10:e0132957 pubmed publisher
    ..studies and follow up studies have identified susceptibility single nucleotide polymorphisms located in or near CLEC16A at chromosome 16p13.13, encompassing among others CIITA, DEXI and SOCS1 in addition to CLEC16A...
  52. Stuart L, Lacy Hulbert A. GOP-1: Helping phagosomes pass the acid test. J Cell Biol. 2017;216:1517-1519 pubmed publisher
    ..In this issue, Yin et al. (2017. J. Cell Biol. identify GOP-1 as essential for the maturation of phagosomes containing apoptotic cells, through recruitment of the Rab GTPase UNC108. ..
  53. Cooper J, Smyth D, Smiles A, Plagnol V, Walker N, Allen J, et al. Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. Nat Genet. 2008;40:1399-401 pubmed publisher
    ..7 x 10(-12)), 10p15 (PRKCQ, P = 3.7 x 10(-9)), 15q24 (CTSH, P = 3.2 x 10(-15)) and 22q13 (C1QTNF6, P = 2.0 x 10(-8)). ..
  54. Mero I, Ban M, Lorentzen Ã, Smestad C, Celius E, Sæther H, et al. Exploring the CLEC16A gene reveals a MS-associated variant with correlation to the relative expression of CLEC16A isoforms in thymus. Genes Immun. 2011;12:191-8 pubmed publisher
    Genomewide association studies have implicated the CLEC16A gene in several autoimmune diseases, including multiple sclerosis (MS) and type 1 diabetes...
  55. Jagielska D, Redler S, Brockschmidt F, Herold C, Pasternack S, Garcia Bartels N, et al. Follow-up study of the first genome-wide association scan in alopecia areata: IL13 and KIAA0350 as susceptibility loci supported with genome-wide significance. J Invest Dermatol. 2012;132:2192-7 pubmed publisher
    ..30 (1.23-1.38)) and rs998592 (P(comb)=1.11 × 10(-11); OR=1.28 (1.21-1.36)), thus establishing IL-13 and KIAA0350/CLEC16A as susceptibility loci for AA...
  56. Zuvich R, Bush W, McCauley J, Beecham A, De Jager P, Ivinson A, et al. Interrogating the complex role of chromosome 16p13.13 in multiple sclerosis susceptibility: independent genetic signals in the CIITA-CLEC16A-SOCS1 gene complex. Hum Mol Genet. 2011;20:3517-24 pubmed publisher
    ..These data highlight the importance of taking a closer look at the expression and function of chromosome 16p13 in the pathogenesis of MS. ..
  57. Fujimaki T, Kato K, Yokoi K, Oguri M, Yoshida T, Watanabe S, et al. Association of genetic variants in SEMA3F, CLEC16A, LAMA3, and PCSK2 with myocardial infarction in Japanese individuals. Atherosclerosis. 2010;210:468-73 pubmed publisher
    ..the chi-square test revealed that the A-->G polymorphism of SEMA3F (rs12632110), the C-->T polymorphism of CLEC16A (rs9925481), the A-->G polymorphism of LAMA3 (rs12373237), and the C-->G polymorphism of PCSK2 (rs6080699) ..
  58. Bashinskaya V, Kulakova O, Kiselev I, Baulina N, Favorov A, Boyko A, et al. GWAS-identified multiple sclerosis risk loci involved in immune response: validation in Russians. J Neuroimmunol. 2015;282:85-91 pubmed publisher
    ..We performed a replication study of nine GWAS-identified SNPs in immune response in Russians. Associations of CLEC16A and IL2RA with MS were validated...
  59. Ferreira R, Pan Hammarstrom Q, Graham R, Gateva V, Fontan G, Lee A, et al. Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency. Nat Genet. 2010;42:777-80 pubmed publisher
    ..3 x 10(-10)) which was previously associated with type 1 diabetes and systemic lupus erythematosus. Variants in CLEC16A, another known autoimmunity locus, showed suggestive evidence for association (rs6498142C>G, P = 1...
  60. Mells G, Floyd J, Morley K, Cordell H, Franklin C, Shin S, et al. Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. Nat Genet. 2011;43:329-32 pubmed publisher
    ..New candidate genes include STAT4, DENND1B, CD80, IL7R, CXCR5, TNFRSF1A, CLEC16A and NFKB1. This study has considerably expanded our knowledge of the genetic architecture of PBC.
  61. Leikfoss I, Mero I, Dahle M, Lie B, Harbo H, Spurkland A, et al. Multiple sclerosis-associated single-nucleotide polymorphisms in CLEC16A correlate with reduced SOCS1 and DEXI expression in the thymus. Genes Immun. 2013;14:62-6 pubmed publisher
    Genome-wide association studies have revealed that the 16p13 chromosomal region, including CLEC16A, DEXI, CIITA and SOCS1, is associated with susceptibility to autoimmune diseases...
  62. Ferreira M, Matheson M, Tang C, Granell R, Ang W, Hui J, et al. Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype. J Allergy Clin Immunol. 2014;133:1564-71 pubmed publisher
    ..14; P = 4 × 10(-9)) and CLEC16A (rs62026376; OR, 1.17; P = 1 × 10(-8))...
  63. Muhali F, Cai T, Zhu J, Qin Q, Xu J, He S, et al. Polymorphisms of CLEC16A region and autoimmune thyroid diseases. G3 (Bethesda). 2014;4:973-7 pubmed publisher
    To investigate the association of CLEC16A gene polymorphisms and autoimmune thyroid diseases (AITDs)...
  64. Nejentsev S, Walker N, Riches D, Egholm M, Todd J. Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science. 2009;324:387-9 pubmed publisher
    ..This finding firmly establishes the role of IFIH1 in T1D and demonstrates that resequencing studies can pinpoint disease-causing genes in genomic regions initially identified by GWASs. ..
  65. Tomlinson M, Pitsillides A, Pickin R, Mika M, Keene K, Hou X, et al. Fine mapping and functional studies of risk variants for type 1 diabetes at chromosome 16p13.13. Diabetes. 2014;63:4360-8 pubmed publisher
    ..Forty-eight SNPs, all located in CLEC16A, provided a statistically significant association (P < 5...
  66. Fujimaki T, Kato K, Yokoi K, Yoshida T, Oguri M, Watanabe S, et al. Genetic risk for myocardial infarction in Japanese individuals with or without chronic kidney disease. Int J Mol Med. 2010;25:743-9 pubmed
    ..without CKD, an initial screen by the Chi-square test revealed that the Cyright curved arrow T polymorphism of CLEC16A (rs9925481) and the Aright curved arrow G polymorphism of LAMA3 (rs12373237) were significantly (false discovery ..
  67. Ramasamy A, Curjuric I, Coin L, Kumar A, McArdle W, Imboden M, et al. A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order. J Allergy Clin Immunol. 2011;128:996-1005 pubmed publisher
    ..This relatively large meta-analysis of GWASs identified few loci associated with AR and grass sensitization. No birth order interaction was identified in the current analyses. ..
  68. Yin J, Huang Y, Guo P, Hu S, Yoshina S, Xuan N, et al. GOP-1 promotes apoptotic cell degradation by activating the small GTPase Rab2 in C. elegans. J Cell Biol. 2017;216:1775-1794 pubmed publisher
    ..Loss of gop-1 also abolishes association of UNC-108 with endosomes, causing defects in endosome and dense core vesicle maturation. Thus, GOP-1 is an activator of UNC-108/Rab2 in multiple processes. ..
  69. Nischwitz S, Cepok S, Kroner A, Wolf C, Knop M, Müller Sarnowski F, et al. More CLEC16A gene variants associated with multiple sclerosis. Acta Neurol Scand. 2011;123:400-6 pubmed publisher
    Recently, associations of several single-nucleotide polymorphisms (SNPs) within the CLEC16A gene with multiple sclerosis (MS), type-I diabetes, and primary adrenal insufficiency were reported...
  70. Hoffjan S, Akkad D. The genetics of multiple sclerosis: an update 2010. Mol Cell Probes. 2010;24:237-43 pubmed publisher
    ..7 receptor (IL7RA), the interleukin 2 receptor (IL2RA), the CD58 and the c-type lectin domain family 16 member A (CLEC16A) genes has been consistently associated with MS in several populations...