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; GeneCards: CLEC16A
Gene location (Human)
Chr.	Chromosome 16 (human)
End	11,182,186 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	10,562,742 bp
RNA expression pattern
	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
	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
Databases	NCBI: entry; OMA: entry
	23274
	74374
	ENSG00000038532
	ENSMUSG00000068663
	Q2KHT3
	Q80U30
	NM_001243403; NM_015226
	NM_001204229; NM_177562
	NP_001230332; NP_056041
	NP_001191158; NP_808230
	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.

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.

Clinical significance

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

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000038532 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000068663 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: C-type lectin domain family 16".
↑ 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.
↑ 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.
1 2 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.
↑ 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.

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. {{cite journal}}: Cite uses deprecated parameter |citeseerx= (help)

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000038532 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] "Entrez Gene: C-type lectin domain family 16".

[pmid9205841-6] 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.

[pmid17632545-7] 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.

[pmid18987646-8] 1 2 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.

[pmid19834503-9] 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.

CLEC16A

Function

Clinical significance

References

External links

Further reading