CLEC16A

CLEC16A
Identifiers
Aliases	CLEC16A , Gop-1, KIAA0350, C-type lectin domain family 16 member A, C-type lectin domain containing 16A
External IDs	OMIM: 611303; MGI: 1921624; HomoloGene: 71019; GeneCards: CLEC16A; OMA:CLEC16A - orthologs
Gene location (Human) Chr. Chromosome 16 (human) [1] Band 16p13.13 Start 10,944,564 bp [1] End 11,182,186 bp [1]
Gene location (Mouse) Chr. Chromosome 16 (mouse) [2] Band 16|16 A1 Start 10,363,203 bp [2] End 10,562,742 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left testis right testis sural nerve right hemisphere of cerebellum epithelium of colon apex of heart right frontal lobe Brodmann area 10 anterior pituitary gastrocnemius muscle Top expressed in dentate gyrus of hippocampal formation granule cell muscle of thigh primary visual cortex superior frontal gyrus medial geniculate nucleus cerebellar cortex subiculum inferior colliculi primary motor cortex lateral geniculate nucleus More reference expression data BioGPS n/a
Gene ontology Molecular function molecular function Cellular component lysosomal membrane endosome lysosome endosome membrane membrane endolysosome membrane Golgi apparatus cytosol vesicle late endosome integral component of membrane Biological process autophagy positive regulation of autophagosome maturation negative regulation of proteasomal ubiquitin-dependent protein catabolic process negative regulation of mitophagy cellular response to starvation negative regulation of autophagosome maturation positive regulation of TORC1 signaling negative regulation of macroautophagy by TORC1 signaling endosome to lysosome transport endosomal transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23274 74374 Ensembl ENSG00000038532 ENSMUSG00000068663 UniProt Q2KHT3 Q80U30 RefSeq (mRNA) NM_001243403 NM_015226 NM_001204229 NM_177562 RefSeq (protein) NP_001230332 NP_056041 NP_001191158 NP_808230 Location (UCSC) Chr 16: 10.94 – 11.18 Mb Chr 16: 10.36 – 10.56 Mb PubMed search [3] [4]
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. ^{[5] [6] [7]}

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. ^[8]

Clinical significance

Polymorphisms in the CLEC16A gene are associated with an increased risk of multiple sclerosis ^[9] as well as type I diabetes. ^[8]

References

1. GRCh38: Ensembl release 89: ENSG00000038532 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000068663 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: C-type lectin domain family 16".
6. Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, et al. (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.
7. Hakonarson H, Grant SF, Bradfield JP, Marchand L, Kim CE, Glessner JT, et al. (August 2007). "A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene". Nature. 448 (7153): 591–4. Bibcode:2007Natur.448..591H. doi:10.1038/nature06010. PMID   17632545. S2CID   4426917.
8. International Multiple Sclerosis Genetics Consortium (IMSGC) (January 2009). "The expanding genetic overlap between multiple sclerosis and type I diabetes". Genes and Immunity. 10 (1). International Multiple Sclerosis Genetics Consortium (IMSGC): 11–4. doi:10.1038/gene.2008.83. PMC   2718424 . PMID   18987646.
9. Hoppenbrouwers IA, Aulchenko YS, Janssens AC, Ramagopalan SV, Broer L, Kayser M, et al. (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.

External links

• Human CLEC16A genome location and CLEC16A gene details page in the UCSC Genome Browser .

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, et al. (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, et al. (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, et al. (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.
• Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A, et al. (June 2007). "Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls". Nature. 447 (7145): 661–78. Bibcode:2007Natur.447..661B. doi:10.1038/nature05911. PMC   2719288 . PMID   17554300.
• Cooper JD, Smyth DJ, Smiles AM, Plagnol V, Walker NM, Allen JE, et al. (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. Bibcode:2009Sci...324..387N. doi:10.1126/science.1167728. PMC   2707798 . PMID   19264985.
• Bahlo M, Booth DR, Broadley SA, Brown MA, Foote SJ, Griffiths LR, et al. (July 2009). "Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20". Nature Genetics. 41 (7): 824–8. doi:10.1038/ng.396. PMID   19525955. S2CID   21555480.
• Zoledziewska M, Costa G, Pitzalis M, Cocco E, Melis C, Moi L, et al. (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. S2CID   1905749.
• Smyth DJ, Plagnol V, Walker NM, Cooper JD, Downes K, Yang JH, et al. (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, et al. (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, et al. (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. S2CID   32420286.
• Perera D, Stankovich J, Butzkueven H, Taylor BV, Foote SJ, Kilpatrick TJ, et al. (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. S2CID   22635059.
• Márquez A, Varadé J, Robledo G, Martínez A, Mendoza JL, Taxonera C, et al. (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, et al. (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. S2CID   29577251.
• D'Netto MJ, Ward H, Morrison KM, Ramagopalan SV, Dyment DA, DeLuca GC, et al. (June 2009). "Risk alleles for multiple sclerosis in multiplex families". Neurology. 72 (23): 1984–8. doi:10.1212/WNL.0b013e3181a92c25. PMID   19506219. S2CID   25952859.
• Awata T, Kawasaki E, Tanaka S, Ikegami H, Maruyama T, Shimada A, et al. (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, et al. (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. CiteSeerX   10.1.1.500.923 . doi:10.1093/dnares/9.3.99. PMID   12168954.