CLEC16A
| CLEC16A | ||||||
|---|---|---|---|---|---|---|
| Identifiers | ||||||
| Aliases | CLEC16A, Gop-1, KIAA0350, C-type lectin domain family 16 member A | |||||
| External IDs | MGI: 1921624 HomoloGene: 71019 GeneCards: CLEC16A | |||||
| Genetically Related Diseases | ||||||
| systemic lupus erythematosus, obesity, atopic dermatitis, allergic rhinitis, multiple sclerosis, type 1 diabetes mellitus, primary biliary cirrhosis[1] | ||||||
| Orthologs | ||||||
| Species | Human | Mouse | ||||
| Entrez | ||||||
| Ensembl | ||||||
| UniProt | ||||||
| RefSeq (mRNA) | ||||||
| RefSeq (protein) | ||||||
| Location (UCSC) | Chr 16: 10.94 – 11.18 Mb | Chr 16: 10.55 – 10.74 Mb | ||||
| PubMed search | [2] | [3] | ||||
| Wikidata | ||||||
| View/Edit Human | View/Edit Mouse |
C-type lectin domain family 16, also known as CLEC16A, is a protein that in humans is encoded by the CLEC16A gene.[4][5][6]
Function
Little is known regarding the function of the CLEC16A protein, however it is shown to be highly expressed on B-lymphocytes, natural killer (NK) and dendritic cells. Despite its name CLEC16A may not function as a lectin because its C-type lectin domain is only 20 amino-acids long.[7]
Clinical significance
Polymorphisms in the CLEC16A gene are associated with an increased risk of multiple sclerosis[8] as well as type I diabetes.[7]
References
- ↑ "Diseases that are genetically associated with CLEC16A view/edit references on wikidata".
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ "Entrez Gene: C-type lectin domain family 16".
- ↑ Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (April 1997). "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Research. 4 (2): 141–50. doi:10.1093/dnares/4.2.141. PMID 9205841.
- ↑ Hakonarson H, Grant SF, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Casalunovo T, Taback SP, Frackelton EC, Lawson ML, Robinson LJ, Skraban R, Lu Y, Chiavacci RM, Stanley CA, Kirsch SE, Rappaport EF, Orange JS, Monos DS, Devoto M, Qu HQ, Polychronakos C (August 2007). "A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene". Nature. 448 (7153): 591–4. doi:10.1038/nature06010. PMID 17632545.
- 1 2 . International Multiple Sclerosis Genetics Consortium (IMSGC). "The expanding genetic overlap between multiple sclerosis and type I diabetes". Genes and Immunity. 10 (1): 11–4. January 2009. doi:10.1038/gene.2008.83. PMC 2718424
. PMID 18987646. - ↑ Hoppenbrouwers IA, Aulchenko YS, Janssens AC, Ramagopalan SV, Broer L, Kayser M, Ebers GC, Oostra BA, van Duijn CM, Hintzen RQ (November 2009). "Replication of CD58 and CLEC16A as genome-wide significant risk genes for multiple sclerosis". Journal of Human Genetics. 54 (11): 676–80. doi:10.1038/jhg.2009.96. PMID 19834503.
Further reading
- Bronson PG, Ramsay PP, Seldin MF, Gregersen PK, Criswell LA, Barcellos LF (September 2010). "A candidate gene study of CLEC16A does not provide evidence of association with risk for anti-CCP-positive rheumatoid arthritis". Genes and Immunity. 11 (6): 504–8. doi:10.1038/gene.2010.7. PMC 2992879. PMID 20220768.
- Skinningsrud B, Husebye ES, Pearce SH, McDonald DO, Brandal K, Wolff AB, Løvås K, Egeland T, Undlien DE (September 2008). "Polymorphisms in CLEC16A and CIITA at 16p13 are associated with primary adrenal insufficiency". The Journal of Clinical Endocrinology and Metabolism. 93 (9): 3310–7. doi:10.1210/jc.2008-0821. PMID 18593762.
- Hafler DA, Compston A, Sawcer S, Lander ES, Daly MJ, De Jager PL, de Bakker PI, Gabriel SB, Mirel DB, Ivinson AJ, Pericak-Vance MA, Gregory SG, Rioux JD, McCauley JL, Haines JL, Barcellos LF, Cree B, Oksenberg JR, Hauser SL (August 2007). "Risk alleles for multiple sclerosis identified by a genomewide study". The New England Journal of Medicine. 357 (9): 851–62. doi:10.1056/NEJMoa073493. PMID 17660530.
- Skinningsrud B, Lie BA, Husebye ES, Kvien TK, Førre Ø, Flatø B, Stormyr A, Joner G, Njølstad PR, Egeland T, Undlien DE (August 2010). "A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis". Annals of the Rheumatic Diseases. 69 (8): 1471–4. doi:10.1136/ard.2009.114934. PMC 2938883. PMID 19734133.
- "Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls". Nature. 447 (7145): 661–78. June 2007. doi:10.1038/nature05911. PMC 2719288. PMID 17554300.
- Cooper JD, Smyth DJ, Smiles AM, Plagnol V, Walker NM, Allen JE, Downes K, Barrett JC, Healy BC, Mychaleckyj JC, Warram JH, Todd JA (December 2008). "Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci". Nature Genetics. 40 (12): 1399–401. doi:10.1038/ng.249. PMC 2635556. PMID 18978792.
- Nejentsev S, Walker N, Riches D, Egholm M, Todd JA (April 2009). "Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes". Science. 324 (5925): 387–9. doi:10.1126/science.1167728. PMC 2707798. PMID 19264985.
- "Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20". Nature Genetics. 41 (7): 824–8. July 2009. doi:10.1038/ng.396. PMID 19525955.
- Zoledziewska M, Costa G, Pitzalis M, Cocco E, Melis C, Moi L, Zavattari P, Murru R, Lampis R, Morelli L, Poddie F, Frongia P, Pusceddu P, Bajorek M, Marras A, Satta AM, Chessa A, Pugliatti M, Sotgiu S, Whalen MB, Rosati G, Cucca F, Marrosu MG (January 2009). "Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia". Genes and Immunity. 10 (1): 15–7. doi:10.1038/gene.2008.84. PMID 18946483.
- Smyth DJ, Plagnol V, Walker NM, Cooper JD, Downes K, Yang JH, Howson JM, Stevens H, McManus R, Wijmenga C, Heap GA, Dubois PC, Clayton DG, Hunt KA, van Heel DA, Todd JA (December 2008). "Shared and distinct genetic variants in type 1 diabetes and celiac disease". The New England Journal of Medicine. 359 (26): 2767–77. doi:10.1056/NEJMoa0807917. PMC 2840835. PMID 19073967.
- Dema B, Martínez A, Fernández-Arquero M, Maluenda C, Polanco I, Angeles Figueredo M, de la Concha EG, Urcelay E, Núñez C (April 2009). "Autoimmune disease association signals in CIITA and KIAA0350 are not involved in celiac disease susceptibility". Tissue Antigens. 73 (4): 326–9. doi:10.1111/j.1399-0039.2009.01216.x. PMID 19317741.
- Martínez A, Perdigones N, Cénit MC, Espino L, Varadé J, Lamas JR, Santiago JL, Fernández-Arquero M, de la Calle H, Arroyo R, de la Concha EG, Fernández-Gutiérrez B, Urcelay E (January 2010). "Chromosomal region 16p13: further evidence of increased predisposition to immune diseases". Annals of the Rheumatic Diseases. 69 (1): 309–11. doi:10.1136/ard.2008.098376. PMID 19221398.
- Perera D, Stankovich J, Butzkueven H, Taylor BV, Foote SJ, Kilpatrick TJ, Rubio JP (June 2009). "Fine mapping of multiple sclerosis susceptibility genes provides evidence of allelic heterogeneity at the IL2RA locus". Journal of Neuroimmunology. 211 (1-2): 105–9. doi:10.1016/j.jneuroim.2009.03.010. PMID 19375175.
- Márquez A, Varadé J, Robledo G, Martínez A, Mendoza JL, Taxonera C, Fernández-Arquero M, Díaz-Rubio M, Gómez-García M, López-Nevot MA, de la Concha EG, Martín J, Urcelay E (October 2009). "Specific association of a CLEC16A/KIAA0350 polymorphism with NOD2/CARD15(-) Crohn's disease patients". European Journal of Human Genetics. 17 (10): 1304–8. doi:10.1038/ejhg.2009.50. PMC 2986636. PMID 19337309.
- Wu X, Zhu X, Wang X, Ma J, Zhu S, Li J, Liu Y (July 2009). "Intron polymorphism in the KIAA0350 gene is reproducibly associated with susceptibility to type 1 diabetes (T1D) in the Han Chinese population". Clinical Endocrinology. 71 (1): 46–9. doi:10.1111/j.1365-2265.2008.03437.x. PMID 19178520.
- D'Netto MJ, Ward H, Morrison KM, Ramagopalan SV, Dyment DA, DeLuca GC, Handunnetthi L, Sadovnick AD, Ebers GC (June 2009). "Risk alleles for multiple sclerosis in multiplex families". Neurology. 72 (23): 1984–8. doi:10.1212/WNL.0b013e3181a92c25. PMID 19506219.
- Awata T, Kawasaki E, Tanaka S, Ikegami H, Maruyama T, Shimada A, Nakanishi K, Kobayashi T, Iizuka H, Uga M, Kawabata Y, Kanazawa Y, Kurihara S, Osaki M, Katayama S (January 2009). "Association of type 1 diabetes with two Loci on 12q13 and 16p13 and the influence coexisting thyroid autoimmunity in Japanese". The Journal of Clinical Endocrinology and Metabolism. 94 (1): 231–5. doi:10.1210/jc.2008-0718. PMID 18940880.
- Todd JA, Walker NM, Cooper JD, Smyth DJ, Downes K, Plagnol V, Bailey R, Nejentsev S, Field SF, Payne F, Lowe CE, Szeszko JS, Hafler JP, Zeitels L, Yang JH, Vella A, Nutland S, Stevens HE, Schuilenburg H, Coleman G, Maisuria M, Meadows W, Smink LJ, Healy B, Burren OS, Lam AA, Ovington NR, Allen J, Adlem E, Leung HT, Wallace C, Howson JM, Guja C, Ionescu-Tîrgovişte C, Simmonds MJ, Heward JM, Gough SC, Dunger DB, Wicker LS, Clayton DG (July 2007). "Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes". Nature Genetics. 39 (7): 857–64. doi:10.1038/ng2068. PMC 2492393. PMID 17554260.
- Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T (June 2002). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Research. 9 (3): 99–106. doi:10.1093/dnares/9.3.99. PMID 12168954.
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