CLEC16A

C-type lectin domain family 16, member A
Identifiers
Symbols	CLEC16A ; Gop-1; KIAA0350
External IDs	OMIM: 611303 MGI: 1921624 HomoloGene: 71019 GeneCards: CLEC16A Gene
Gene ontology Molecular function • binding Cellular component • lysosomal membrane • endosome membrane Biological process • autophagy Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	23274	74374
Ensembl	ENSG00000038532	ENSMUSG00000068663
UniProt	Q2KHT3	Q80U30
RefSeq (mRNA)	NM_001243403	NM_001204229
RefSeq (protein)	NP_001230332	NP_001191158
Location (UCSC)	Chr 16: 10.94 – 11.18 Mb	Chr 16: 10.55 – 10.74 Mb
PubMed search

C-type lectin domain family 16, also known as CLEC16A, is a protein that in humans is encoded by the CLEC16A gene.^[1][2][3]

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.^[4]

Clinical significance

Polymorphisms in the CLEC16A gene are associated with an increased risk of multiple sclerosis^[5] as well as type I diabetes.^[4]

References

1. "Entrez Gene: C-type lectin domain family 16".
2. 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 Res. 4 (2): 141–50. doi:10.1093/dnares/4.2.141. PMID 9205841.
3. 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.
4. Heard, Robert N; Stewart, Graeme J; Goris, An; Dobosi, Rita; Dubois, BénéDicte; Lorentzen, ÅSlaug R; Celius, Elisabeth G; Harbo, Hanne F; et al. (January 2009). "The expanding genetic overlap between multiple sclerosis and type 1 diabetes". Genes Immun. 10 (1): 11–4. doi:10.1038/gene.2008.83. PMC 2718424. PMID 18987646. Missing |last1= in Authors list (help)
5. Hoppenbrouwers IA, Aulchenko YS, Janssens AC, Ramagopalan SV, Broer L, Kayser M, Ebers GC, Oostra BA, van Duijn CM, Hintzen RQ (October 2009). "Replication of CD58 and CLEC16A as genome-wide significant risk genes for multiple sclerosis". J. Hum. Genet. 54 (11): 676–80. doi:10.1038/jhg.2009.96. PMID 19834503.

Further reading

• Bronson PG, Ramsay PP, Seldin MF; et al. (2010). "A candidate gene study of CLEC16A does not provide evidence of association with risk for anti-CCP-positive rheumatoid arthritis". Genes Immun. 11 (6): 504–8. doi:10.1038/gene.2010.7. PMC 2992879. PMID 20220768.
• Skinningsrud B, Husebye ES, Pearce SH; et al. (2008). "Polymorphisms in CLEC16A and CIITA at 16p13 are associated with primary adrenal insufficiency". J. Clin. Endocrinol. Metab. 93 (9): 3310–7. doi:10.1210/jc.2008-0821. PMID 18593762.
• , Hafler DA, Compston A; et al. (2007). "Risk alleles for multiple sclerosis identified by a genomewide study". N. Engl. J. Med. 357 (9): 851–62. doi:10.1056/NEJMoa073493. PMID 17660530.
• Skinningsrud B, Lie BA, Husebye ES; et al. (2009). "A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis". Ann. Rheum. Dis. 69 (8): 1471–4. doi:10.1136/ard.2009.114934. PMC 2938883. PMID 19734133.
• Wellcome Trust Case Control Consortium; Clayton, David G.; Cardon, Lon R.; Craddock, Nick; Deloukas, Panos; Duncanson, Audrey; Kwiatkowski, Dominic P.; McCarthy, Mark I.; et al. (2007). "Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls". Nature 447 (7145): 661–78. doi:10.1038/nature05911. PMC 2719288. PMID 17554300.
• Cooper JD, Smyth DJ, Smiles AM; et al. (2008). "Meta-analysis of genome-wide association study data identifies additional type 1 diabetes loci". Nat. Genet. 40 (12): 1399–401. doi:10.1038/ng.249. PMC 2635556. PMID 18978792.
• Nejentsev S, Walker N, Riches D; et al. (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.
• Australia and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene); Booth, David R; Broadley, Simon A; Brown, Matthew A; Foote, Simon J; Griffiths, Lyn R; Kilpatrick, Trevor J; Lechner-Scott, Jeanette; et al. (2009). "Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20". Nat. Genet. 41 (7): 824–8. doi:10.1038/ng.396. PMID 19525955.
• Zoledziewska M, Costa G, Pitzalis M; et al. (2009). "Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia". Genes Immun. 10 (1): 15–7. doi:10.1038/gene.2008.84. PMID 18946483.
• Smyth DJ, Plagnol V, Walker NM; et al. (2008). "Shared and Distinct Genetic Variants in Type 1 Diabetes and Celiac Disease". N. Engl. J. Med. 359 (26): 2767–77. doi:10.1056/NEJMoa0807917. PMC 2840835. PMID 19073967.
• Dema B, Martínez A, Fernández-Arquero M; et al. (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 M; et al. (2009). "Chromosomal region 16p13: further evidence of increased predisposition to immune diseases". Ann. Rheum. Dis. 69 (1): 309–11. doi:10.1136/ard.2008.098376. PMID 19221398.
• Perera D, Stankovich J, Butzkueven H; et al. (2009). "Fine mapping of multiple sclerosis susceptibility genes provides evidence of allelic heterogeneity at the IL2RA locus". J. Neuroimmunol. 211 (1–2): 105–9. doi:10.1016/j.jneuroim.2009.03.010. PMID 19375175.
• Márquez A, Varadé J, Robledo G; et al. (2009). "Specific association of a CLEC16A/KIAA0350 polymorphism with NOD2/CARD15− Crohn's disease patients". Eur. J. Hum. Genet. 17 (10): 1304–8. doi:10.1038/ejhg.2009.50. PMC 2986636. PMID 19337309.
• Wu X, Zhu X, Wang X; et al. (2009). "Intron polymorphism in the KIAA0350 gene is reproducibly associated with susceptibility to type 1 diabetes (T1D) in the Han Chinese population". Clin. Endocrinol. (Oxf) 71 (1): 46–9. doi:10.1111/j.1365-2265.2008.03437.x. PMID 19178520.
• D'Netto MJ, Ward H, Morrison KM; et al. (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; et al. (2009). "Association of type 1 diabetes with two Loci on 12q13 and 16p13 and the influence coexisting thyroid autoimmunity in Japanese". J. Clin. Endocrinol. Metab. 94 (1): 231–5. doi:10.1210/jc.2008-0718. PMID 18940880.
• Todd JA, Walker NM, Cooper JD; et al. (2007). "Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes". Nat. Genet. 39 (7): 857–64. doi:10.1038/ng2068. PMC 2492393. PMID 17554260.
• Nakajima D, Okazaki N, Yamakawa H; et al. (2002). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Res. 9 (3): 99–106. doi:10.1093/dnares/9.3.99. PMID 12168954.