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CLEC16A
معین‌کننده‌ها
نام‌های دیگر	CLEC16A, Gop-1, KIAA0350, C-type lectin domain family 16 member A, C-type lectin domain containing 16A
شناسه‌های بیرونی	OMIM: 611303; MGI: 1921624; HomoloGene: 71019; GeneCards: CLEC16A; OMA:CLEC16A - orthologs
موقعیت ژن (انسان)
کروموزوم	کروموزوم ۱۶ (انسان)
پایان	11,182,186 bp
موقعیت ژن (موش)
کروموزوم	کروموزوم ۱۶ (موش)
پایان	10,562,742 bp
الگوی گسترش RNA
	بیشترین بیان در
	left testis; ; right testis; ; right hemisphere of cerebellum; ; epithelium of colon; ; apex of heart; ; right frontal lobe; ; Brodmann area 10;
	بیشترین بیان در
	dentate gyrus of hippocampal formation granule cell; ; muscle of thigh; ; primary visual cortex; ; superior frontal gyrus; ; medial geniculate nucleus; ; cerebellar cortex; ; subiculum;
	داده‌های بیشتر بیان
	ناموجود
هستی‌شناسی ژن
عملکرد ملکولی	molecular function;
ترکیبات سلولی	lysosomal membrane; اندوزوم; کافنده‌تن; endosome membrane; membrane; endolysosome membrane; دستگاه گلژی; سیتوزول; ریزکیسه; late endosome; integral component of membrane;
فرایند زیستی	خودخواری; 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;
	منابع: آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	23274
	74374
	ENSG00000038532
	ENSMUSG00000068663
	Q2KHT3
	Q80U30
	NM_001243403; NM_015226
	NM_001204229; NM_177562
	NP_001230332; NP_056041
	NP_001191158; NP_808230
	ویکی‌داده
مشاهده/ویرایش انسان	مشاهده/ویرایش موش

عضو A از خانوادهٔ ۱۶ دومِـین لکتین نوع سی (انگلیسی: C-type lectin domain family 16) یک پروتئین است که در انسان توسط ژن «CLEC16A» کُدگذاری می‌شود.^[۵]^[۶]^[۷]

اطلاعات اندکی از این پروتئین در دست است، اما مشخص شده که بر روی سطح لنفوسیت‌های بی، سلول‌های کشنده طبیعی و سلول‌های دندریتیک بیان می‌شود. علی‌رغم نام این پروتئین، این مولکول لزوماً همچون یک لکتین عمل نمی‌کند چرا که دومِـین لکتین نوع سی آن تنها ۲۰ اسید آمینه طول دارد.^[۸]

اهمیت بالینی

چندریختی ژن «CLEC16A» با افزایش احتمال ابتلا به ام‌اس^[۹] و دیابت نوع ۱^[۸] مرتبط است.

منابع

↑ ^۱٫۰ ^۱٫۱ ^۱٫۲ GRCh38: Ensembl release 89: ENSG00000038532 – Ensembl, May 2017
↑ ^۲٫۰ ^۲٫۱ ^۲٫۲ 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, 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.
↑ ^۸٫۰ ^۸٫۱ 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, 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.

مشارکت‌کنندگان ویکی‌پدیا. «CLEC16A». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۲۷ دسامبر ۲۰۱۹.

پیوند به بیرون

مکان ژنوم CLEC16A انسانی و صفحهٔ جزئیات ژنی CLEC16A در سامانه جستجوی بانک ژنی دانشگاه کالیفرنیا، سانتا کروز.

برای مطالعهٔ بیشتر

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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.
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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.
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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.
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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.
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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. CiteSeerX 10.1.1.500.923. doi:10.1093/dnares/9.3.99. PMID 12168954.

[refGRCh38Ensembl-1] ۱٫۰ ^۱٫۱ ^۱٫۲ GRCh38: Ensembl release 89: ENSG00000038532 – Ensembl, May 2017

[refGRCm38Ensembl-2] ۲٫۰ ^۲٫۱ ^۲٫۲ 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, 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.

[pmid17632545-7] 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.

[pmid18987646-8] ۸٫۰ ^۸٫۱ 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, 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.

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CLEC16A

اهمیت بالینی

منابع

پیوند به بیرون

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