CLEC16A c.2641+18780G>A

Variant ID: 16-11238783-G-A

NM_015226.2(CLEC16A):c.2641+18780G>A

This variant was identified in 28 publications

View GRCh38 version.




Publications:


CLEC16A-An Emerging Master Regulator of Autoimmunity and Neurodegeneration.

International Journal Of Molecular Sciences
Pandey, Rahul R; Bakay, Marina M; Hakonarson, Hakon H
Publication Date: 2023-05-04

Variant appearance in text: rs2903692
PubMed Link: 37175930
Variant Present in the following documents:
  • Main text
  • ijms-24-08224.pdf
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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs2903692
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Autoimmune Disease Associated CLEC16A Variants Convey Risk of Parkinson's Disease in Han Chinese.

Frontiers In Genetics
Fan, Hui-Hui HH; Cui, Lei L; Jiang, Xiao-Xia XX; Song, Ya-Dan YD; Liu, Shu-Shu SS; Wu, Ke-Yun KY; Dong, Hao-Jia HJ; Mao, Miao M; Ovlyakulov, Begench B; Wu, Hong-Mei HM; Zhu, Jian-Hong JH; Zhang, Xiong X
Publication Date: 2022

Variant appearance in text: rs2903692
PubMed Link: 35432448
Variant Present in the following documents:
  • Main text
  • fgene-13-856493.pdf
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Type 1 Diabetes and Autoimmune Thyroid Disease-The Genetic Link.

Frontiers In Endocrinology
Frommer, Lara L; Kahaly, George J GJ
Publication Date: 2021

Variant appearance in text: rs2903692
PubMed Link: 33776915
Variant Present in the following documents:
  • Main text
  • fendo-12-618213.pdf
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Genetics of fulminant type 1 diabetes.

Diabetology International
Kawabata, Yumiko Y; Ikegami, Hiroshi H
Publication Date: 2020-10

Variant appearance in text: rs2903692
PubMed Link: 33088637
Variant Present in the following documents:
  • Main text
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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs2903692
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
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The impact of proinflammatory cytokines on the β-cell regulatory landscape provides insights into the genetics of type 1 diabetes.

Nature Genetics
Ramos-Rodríguez, Mireia M; Raurell-Vila, Helena H; Colli, Maikel L ML; Alvelos, Maria Inês MI; Subirana-Granés, Marc M; Juan-Mateu, Jonàs J; Norris, Richard R; Turatsinze, Jean-Valery JV; Nakayasu, Ernesto S ES; Webb-Robertson, Bobbie-Jo M BM; Inshaw, Jamie R J JRJ; Marchetti, Piero P; Piemonti, Lorenzo L; Esteller, Manel M; Todd, John A JA; Metz, Thomas O TO; Eizirik, Décio L DL; Pasquali, Lorenzo L
Publication Date: 2019-11

Variant appearance in text: rs2903692
PubMed Link: 31676868
Variant Present in the following documents:
  • NIHMS1540810-supplement-1.pdf
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Variants in the BACH2 and CLEC16A gene might be associated with susceptibility to insulin-triggered type 1 diabetes.

Journal Of Diabetes Investigation
Onuma, Hiroshi H; Kawamura, Ryoichi R; Tabara, Yasuharu Y; Yamashita, Masakatsu M; Ohashi, Jun J; Kawasaki, Eiji E; Imagawa, Akihisa A; Yamada, Yuya Y; Chujo, Daisuke D; Takahashi, Kenji K; Suehiro, Tadashi T; Takata, Yasunori Y; Osawa, Haruhiko H; Makino, Hideichi H
Publication Date: 2019-11

Variant appearance in text: rs2903692
PubMed Link: 30970177
Variant Present in the following documents:
  • Main text
  • JDI-10-1447.pdf
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The Autoimmune Disorder Susceptibility Gene CLEC16A Restrains NK Cell Function in YTS NK Cell Line and Clec16a Knockout Mice.

Frontiers In Immunology
Pandey, Rahul R; Bakay, Marina M; Hain, Heather S HS; Strenkowski, Bryan B; Yermakova, Anastasiya A; Kushner, Jake A JA; Orange, Jordan S JS; Hakonarson, Hakon H
Publication Date: 2019

Variant appearance in text: rs2903692
PubMed Link: 30774629
Variant Present in the following documents:
  • Main text
  • fimmu-10-00068.pdf
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CLEC16A regulates splenocyte and NK cell function in part through MEK signaling.

Plos One
Pandey, Rahul R; Bakay, Marina M; Hain, Heather S HS; Strenkowski, Bryan B; Elsaqa, Barakat Z B BZB; Roizen, Jeffrey D JD; Kushner, Jake A JA; Orange, Jordan S JS; Hakonarson, Hakon H
Publication Date: 2018

Variant appearance in text: rs2903692
PubMed Link: 30226884
Variant Present in the following documents:
  • Main text
  • pone.0203952.pdf
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HLA and non-HLA genes and familial predisposition to autoimmune diseases in families with a child affected by type 1 diabetes.

Plos One
Parkkola, Anna A; Laine, Antti-Pekka AP; Karhunen, Markku M; Härkönen, Taina T; Ryhänen, Samppa J SJ; Ilonen, Jorma J; Knip, Mikael M; ,
Publication Date: 2017

Variant appearance in text: rs2903692
PubMed Link: 29182645
Variant Present in the following documents:
  • Main text
  • pone.0188402.pdf
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Crosstalk between autophagy and inflammatory signalling pathways: balancing defence and homeostasis.

Nature Reviews. Immunology
Cadwell, Ken K
Publication Date: 2016-11

Variant appearance in text: rs2903692
PubMed Link: 27694913
Variant Present in the following documents:
  • Main text
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Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics
Pickrell, Joseph K JK; Berisa, Tomaz T; Liu, Jimmy Z JZ; Ségurel, Laure L; Tung, Joyce Y JY; Hinds, David A DA
Publication Date: 2016-07

Variant appearance in text: rs2903692
PubMed Link: 27182965
Variant Present in the following documents:
  • NIHMS780506-supplement-6.pdf
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Dissecting diabetes/metabolic disease mechanisms using pluripotent stem cells and genome editing tools.

Molecular Metabolism
Teo, Adrian Kee Keong AK; Gupta, Manoj K MK; Doria, Alessandro A; Kulkarni, Rohit N RN
Publication Date: 2015-09

Variant appearance in text: rs2903692
PubMed Link: 26413465
Variant Present in the following documents:
  • Main text
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Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells.

Nature Communications
Li, Jin J; Jørgensen, Silje F SF; Maggadottir, S Melkorka SM; Bakay, Marina M; Warnatz, Klaus K; Glessner, Joseph J; Pandey, Rahul R; Salzer, Ulrich U; Schmidt, Reinhold E RE; Perez, Elena E; Resnick, Elena E; Goldacker, Sigune S; Buchta, Mary M; Witte, Torsten T; Padyukov, Leonid L; Videm, Vibeke V; Folseraas, Trine T; Atschekzei, Faranaz F; Elder, James T JT; Nair, Rajan P RP; Winkelmann, Juliane J; Gieger, Christian C; Nöthen, Markus M MM; Büning, Carsten C; Brand, Stephan S; Sullivan, Kathleen E KE; Orange, Jordan S JS; Fevang, Børre B; Schreiber, Stefan S; Lieb, Wolfgang W; Aukrust, Pål P; Chapel, Helen H; Cunningham-Rundles, Charlotte C; Franke, Andre A; Karlsen, Tom H TH; Grimbacher, Bodo B; Hakonarson, Hakon H; Hammarström, Lennart L; Ellinghaus, Eva E
Publication Date: 2015-04-20

Variant appearance in text: rs2903692
PubMed Link: 25891430
Variant Present in the following documents:
  • NIHMS669415-supplement-1.pdf
View BVdb publication page



Fine mapping and functional studies of risk variants for type 1 diabetes at chromosome 16p13.13.

Diabetes
Tomlinson, M Joseph MJ; Pitsillides, Achilleas A; Pickin, Rebecca R; Mika, Matthew M; Keene, Keith L KL; Hou, Xuanlin X; Mychaleckyj, Josyf J; Chen, Wei-Min WM; Concannon, Patrick P; Onengut-Gumuscu, Suna S
Publication Date: 2014-12

Variant appearance in text: rs2903692
PubMed Link: 25008175
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genes involved in type 1 diabetes: an update.

Genes
Bakay, Marina M; Pandey, Rahul R; Hakonarson, Hakon H
Publication Date: 2013-09-16

Variant appearance in text: rs2903692
PubMed Link: 24705215
Variant Present in the following documents:
  • Main text
  • genes-04-00499.pdf
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Altered immune regulation in type 1 diabetes.

Clinical & Developmental Immunology
Zóka, András A; Műzes, Györgyi G; Somogyi, Anikó A; Varga, Tímea T; Szémán, Barbara B; Al-Aissa, Zahra Z; Hadarits, Orsolya O; Firneisz, Gábor G
Publication Date: 2013

Variant appearance in text: rs2903692
PubMed Link: 24285974
Variant Present in the following documents:
  • Main text
  • CDI2013-254874.pdf
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From Identification to Characterization of the Multiple Sclerosis Susceptibility Gene CLEC16A.

International Journal Of Molecular Sciences
Berge, Tone T; Leikfoss, Ingvild Sørum IS; Harbo, Hanne F HF
Publication Date: 2013-02-25

Variant appearance in text: rs2903692
PubMed Link: 23439554
Variant Present in the following documents:
  • Main text
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Polymorphisms in the inflammatory genes CIITA, CLEC16A and IFNG influence BMD, bone loss and fracture in elderly women.

Plos One
Swanberg, Maria M; McGuigan, Fiona E FE; Ivaska, Kaisa K KK; Gerdhem, Paul P; Åkesson, Kristina K
Publication Date: 2012

Variant appearance in text: rs2903692
PubMed Link: 23133532
Variant Present in the following documents:
  • Main text
  • pone.0047964.pdf
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The Correlation between the CLEC16A Gene and Genetic Susceptibility to Type 1 Diabetes in Chinese Children.

International Journal Of Endocrinology
Sang, Yanmei Y; Zong, Wei W; Yan, Jie J; Liu, Min M
Publication Date: 2012

Variant appearance in text: rs2903692
PubMed Link: 22778732
Variant Present in the following documents:
  • Main text
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Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci.

Journal Of Hepatology
Folseraas, Trine T; Melum, Espen E; Rausch, Philipp P; Juran, Brian D BD; Ellinghaus, Eva E; Shiryaev, Alexey A; Laerdahl, Jon K JK; Ellinghaus, David D; Schramm, Christoph C; Weismüller, Tobias J TJ; Gotthardt, Daniel Nils DN; Hov, Johannes Roksund JR; Clausen, Ole Petter OP; Weersma, Rinse K RK; Janse, Marcel M; Boberg, Kirsten Muri KM; Björnsson, Einar E; Marschall, Hanns-Ulrich HU; Cleynen, Isabelle I; Rosenstiel, Philip P; Holm, Kristian K; Teufel, Andreas A; Rust, Christian C; Gieger, Christian C; Wichmann, H-Erich HE; Bergquist, Annika A; Ryu, Euijung E; Ponsioen, Cyriel Y CY; Runz, Heiko H; Sterneck, Martina M; Vermeire, Severine S; Beuers, Ulrich U; Wijmenga, Cisca C; Schrumpf, Erik E; Manns, Michael P MP; Lazaridis, Konstantinos N KN; Schreiber, Stefan S; Baines, John F JF; Franke, Andre A; Karlsen, Tom H TH
Publication Date: 2012-08

Variant appearance in text: rs2903692
PubMed Link: 22521342
Variant Present in the following documents:
  • Main text
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A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.

Plos Genetics
Bradfield, Jonathan P JP; Qu, Hui-Qi HQ; Wang, Kai K; Zhang, Haitao H; Sleiman, Patrick M PM; Kim, Cecilia E CE; Mentch, Frank D FD; Qiu, Haijun H; Glessner, Joseph T JT; Thomas, Kelly A KA; Frackelton, Edward C EC; Chiavacci, Rosetta M RM; Imielinski, Marcin M; Monos, Dimitri S DS; Pandey, Rahul R; Bakay, Marina M; Grant, Struan F A SF; Polychronakos, Constantin C; Hakonarson, Hakon H
Publication Date: 2011-09

Variant appearance in text: rs2903692
PubMed Link: 21980299
Variant Present in the following documents:
  • Main text
  • pgen.1002293.pdf
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Selective IgA deficiency in autoimmune diseases.

Molecular Medicine (Cambridge, Mass.)
Wang, Ning N; Shen, Nan N; Vyse, Timothy J TJ; Anand, Vidya V; Gunnarson, Iva I; Sturfelt, Gunnar G; Rantapää-Dahlqvist, Solbritt S; Elvin, Kerstin K; Truedsson, Lennart L; Andersson, Bengt A BA; Dahle, Charlotte C; Ortqvist, Eva E; Gregersen, Peter K PK; Behrens, Timothy W TW; Hammarström, Lennart L
Publication Date: 2011

Variant appearance in text: rs2903692
PubMed Link: 21826374
Variant Present in the following documents:
  • Main text
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Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.

Plos Genetics
Nica, Alexandra C AC; Montgomery, Stephen B SB; Dimas, Antigone S AS; Stranger, Barbara E BE; Beazley, Claude C; Barroso, Inês I; Dermitzakis, Emmanouil T ET
Publication Date: 2010-04-01

Variant appearance in text: rs2903692
PubMed Link: 20369022
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic susceptibility to type 2 diabetes is associated with reduced prostate cancer risk.

Human Heredity
Pierce, Brandon L BL; Ahsan, Habibul H
Publication Date: 2010

Variant appearance in text: rs2903692
PubMed Link: 20203524
Variant Present in the following documents:
  • Main text
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A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis.

Annals Of The Rheumatic Diseases
Skinningsrud, Beate B; Lie, Benedicte A BA; Husebye, Eystein S ES; Kvien, Tore K TK; Førre, Øystein Ø; Flatø, Berit B; Stormyr, Alice A; Joner, Geir G; Njølstad, Pål R PR; Egeland, Thore T; Undlien, Dag E DE
Publication Date: 2010-08

Variant appearance in text: rs2903692
PubMed Link: 19734133
Variant Present in the following documents:
  • Main text
  • ard-69-08-1471.pdf
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Specific association of a CLEC16A/KIAA0350 polymorphism with NOD2/CARD15(-) Crohn's disease patients.

European Journal Of Human Genetics : Ejhg
Márquez, Ana A; Varadé, Jezabel J; Robledo, Gema G; Martínez, Alfonso A; Mendoza, Juan Luis JL; Taxonera, Carlos C; Fernández-Arquero, Miguel M; Díaz-Rubio, Manuel M; Gómez-García, María M; López-Nevot, Miguel Angel MA; de la Concha, Emilio G EG; Martín, Javier J; Urcelay, Elena E
Publication Date: 2009-10

Variant appearance in text: rs2903692
PubMed Link: 19337309
Variant Present in the following documents:
  • Main text
View BVdb publication page