RUNX2

RUNX2
معین‌کننده‌ها
نام‌های دیگر	RUNX2, AML3, CBF-alpha-1, CBFA1, CCD, CCD1, CLCD, OSF-2, OSF2, PEA2aA, PEBP2aA, runt related transcription factor 2, Runx2 mRNA, RUNX family transcription factor 2
شناسه‌های بیرونی	OMIM: 600211 MGI: 99829 HomoloGene: 68389 GeneCards: RUNX2
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)[1]
End	44,814,797 bp[1]
الگوی گسترش RNA
	; ;
	More reference expression data
هستی‌شناسی ژن
عملکرد ملکولی	• DNA binding; • protein domain specific binding; • GO:0001131، GO:0001151، GO:0001130، GO:0001204 DNA-binding transcription factor activity; • GO:0001077، GO:0001212، GO:0001213، GO:0001211، GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific; • chromatin binding; • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding; • bHLH transcription factor binding; • GO:0001948 پیوند پروتئینی; • ATP binding; • GO:0001200، GO:0001133، GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific;
ترکیبات سلولی	• سیتوپلاسم; • transcription regulator complex; • هسته یاخته; • نوکلئوپلاسم; • سیتوزول;
فرایند زیستی	• skeletal system development; • regulation of transcription, DNA-templated; • negative regulation of smoothened signaling pathway; • chondrocyte differentiation; • استخوان‌سازی; • regulation of transcription by RNA polymerase II; • regulation of fibroblast growth factor receptor signaling pathway; • skeletal system morphogenesis; • chondrocyte development; • cellular response to BMP stimulus; • استخوان‌سازی درون‌غضروفی; • regulation of odontogenesis of dentin-containing tooth; • cell maturation; • BMP signaling pathway; • stem cell differentiation; • transcription, DNA-templated; • odontogenesis of dentin-containing tooth; • T cell differentiation; • positive regulation of gene expression; • regulation of osteoblast differentiation; • positive regulation of chondrocyte differentiation; • osteoblast differentiation; • neuron differentiation; • positive regulation of cell population proliferation; • regulation of cell differentiation; • osteoblast development; • embryonic cranial skeleton morphogenesis; • regulation of ossification; • embryonic forelimb morphogenesis; • positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus; • osteoblast fate commitment; • negative regulation of transcription, DNA-templated; • positive regulation of transcription, DNA-templated; • transcription initiation from RNA polymerase II promoter; • positive regulation of osteoblast differentiation; • positive regulation of transcription by RNA polymerase II; • دگرگونی یاخته‌; • hemopoiesis; • ساماندهی بیان ژن;
	Sources:آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	860
	12393
	ENSG00000124813
	ENSMUSG00000039153
	Q13950
	Q08775
	NM_001024630، NM_001278478، NM_004348، NR_103532، NR_103533، NM_001369405 NM_001015051، NM_001024630، NM_001278478، NM_004348، NR_103532، NR_103533، NM_001369405
	NM_001146038، NM_001271627، NM_001271630، NM_001271631، NM_001271633، NM_009820، NR_073392، NR_073425 NM_001145920، NM_001146038، NM_001271627، NM_001271630، NM_001271631، NM_001271633، NM_009820، NR_073392، NR_073425
	NP_001019801، NP_001265407، NP_001356334 NP_001015051، NP_001019801، NP_001265407، NP_001356334
	NP_001139510، NP_001258556، NP_001258559، NP_001258560، NP_033950 NP_001139392، NP_001139510، NP_001258556، NP_001258559، NP_001258560، NP_033950
	ویکی‌داده
مشاهده/ویرایش Human	View/Edit Mouse

فاکتور رونویسی مرتبط با Runt (انگلیسی: Runt-related transcription factor 2‎) یک پروتئین است که در انسان توسط ژن «RUNX2» کُدگذاری می‌شود.

این پروتئین یک فاکتور رونویسی بسیار مهم در رابطه با تمایز سلولی استئوبلاست است. این پروتئین همچنین نقش تنظیمی در چرخه سلول استئوبلاست[4][5] و لایه درون‌رگی دارد.

علاوه بر اینها، اخیراً مشخص شده که این پروتئین به سبب نقشش در تکامل استخوانی، در اندازه و پهنای پُل بینی انسان نقش دارد.[6]

اهمیت بالینی

جهش در ژن «RUNX2» سبب بروز ناهنجاری مادرزادی «دیس‌استوز کلیدوکرانیال» (استخوانی شدن ناقص استخوان چنبری-سری) می‌شود.[7]

پروتئین RUNX2 همچنین با افزایش احتمال سرطان استئوسارکوما مرتبط است.[5][4]

تعامل مولکولی

این مولکول با پروتئین‌های زیر تعامل پروتئین-پروتئین دارد:

منابع

GRCm38: Ensembl release 89: ENSMUSG00000039153 - 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.
San Martin IA, Varela N, Gaete M, Villegas K, Osorio M, Tapia JC, Antonelli M, Mancilla EE, Pereira BP, Nathan SS, Lian JB, Stein JL, Stein GS, van Wijnen AJ, Galindo M (December 2009). "Impaired cell cycle regulation of the osteoblast-related heterodimeric transcription factor Runx2-Cbfbeta in osteosarcoma cells". Journal of Cellular Physiology. 221 (3): 560–71. doi:10.1002/jcp.21894. PMC 3066433. PMID 19739101.
Lucero CM, Vega OA, Osorio MM, Tapia JC, Antonelli M, Stein GS, van Wijnen AJ, Galindo MA (April 2013). "The cancer-related transcription factor Runx2 modulates cell proliferation in human osteosarcoma cell lines". Journal of Cellular Physiology. 228 (4): 714–23. doi:10.1002/jcp.24218. PMC 3593672. PMID 22949168.
«Five genes that give your nose its shape». American Association for the Advancement of Science.
Lou Y, Javed A, Hussain S, Colby J, Frederick D, Pratap J, Xie R, Gaur T, van Wijnen AJ, Jones SN, Stein GS, Lian JB, Stein JL (February 2009). "A Runx2 threshold for the cleidocranial dysplasia phenotype". Human Molecular Genetics. 18 (3): 556–68. doi:10.1093/hmg/ddn383. PMC 2638795. PMID 19028669.
Baniwal SK, Khalid O, Sir D, Buchanan G, Coetzee GA, Frenkel B (August 2009). "Repression of Runx2 by androgen receptor (AR) in osteoblasts and prostate cancer cells: AR binds Runx2 and abrogates its recruitment to DNA". Molecular Endocrinology. 23 (8): 1203–14. doi:10.1210/me.2008-0470. PMC 2718746. PMID 19389811.
Zhang YW, Yasui N, Ito K, Huang G, Fujii M, Hanai J, Nogami H, Ochi T, Miyazono K, Ito Y (September 2000). "A RUNX2/PEBP2alpha A/CBFA1 mutation displaying impaired transactivation and Smad interaction in cleidocranial dysplasia". Proceedings of the National Academy of Sciences of the United States of America. 97 (19): 10549–54. doi:10.1073/pnas.180309597. PMC 27062. PMID 10962029.
Hanai J, Chen LF, Kanno T, Ohtani-Fujita N, Kim WY, Guo WH, Imamura T, Ishidou Y, Fukuchi M, Shi MJ, Stavnezer J, Kawabata M, Miyazono K, Ito Y (October 1999). "Interaction and functional cooperation of PEBP2/CBF with Smads. Synergistic induction of the immunoglobulin germline Calpha promoter". The Journal of Biological Chemistry. 274 (44): 31577–82. doi:10.1074/jbc.274.44.31577. PMID 10531362.

مشارکت‌کنندگان ویکی‌پدیا. «RUNX2». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۱۶ مارس ۲۰۲۰.

برای مطالعهٔ بیشتر

Otto F, Kanegane H, Mundlos S (March 2002). "Mutations in the RUNX2 gene in patients with cleidocranial dysplasia". Human Mutation. 19 (3): 209–16. doi:10.1002/humu.10043. PMID 11857736.
Komori T (March 2002). "[Cbfa1/Runx2, an essential transcription factor for the regulation of osteoblast differentiation]". Nihon Rinsho. Japanese Journal of Clinical Medicine. 60 Suppl 3: 91–7. PMID 11979975.
Stock M, Otto F (June 2005). "Control of RUNX2 isoform expression: the role of promoters and enhancers". Journal of Cellular Biochemistry. 95 (3): 506–17. doi:10.1002/jcb.20471. PMID 15838892.
Blyth K, Cameron ER, Neil JC (May 2005). "The RUNX genes: gain or loss of function in cancer". Nature Reviews. Cancer. 5 (5): 376–87. doi:10.1038/nrc1607. PMID 15864279.
Schroeder TM, Jensen ED, Westendorf JJ (September 2005). "Runx2: a master organizer of gene transcription in developing and maturing osteoblasts". Birth Defects Research. Part C, Embryo Today. 75 (3): 213–25. doi:10.1002/bdrc.20043. PMID 16187316.
Frenkel B, Hong A, Baniwal SK, Coetzee GA, Ohlsson C, Khalid O, Gabet Y (August 2010). "Regulation of adult bone turnover by sex steroids". Journal of Cellular Physiology. 224 (2): 305–10. doi:10.1002/jcp.22159. PMC 5770230. PMID 20432458.

پیوند به بیرون

Runx2 protein در سرعنوان‌های موضوعی پزشکی (MeSH) در کتابخانهٔ ملی پزشکی ایالات متحدهٔ آمریکا

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[refGRCm38Ensembl-1] GRCm38: Ensembl release 89: ENSMUSG00000039153 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[San_Martin_2009-4] San Martin IA, Varela N, Gaete M, Villegas K, Osorio M, Tapia JC, Antonelli M, Mancilla EE, Pereira BP, Nathan SS, Lian JB, Stein JL, Stein GS, van Wijnen AJ, Galindo M (December 2009). "Impaired cell cycle regulation of the osteoblast-related heterodimeric transcription factor Runx2-Cbfbeta in osteosarcoma cells". Journal of Cellular Physiology. 221 (3): 560–71. doi:10.1002/jcp.21894. PMC 3066433. PMID 19739101.

[Lucero_2013-5] Lucero CM, Vega OA, Osorio MM, Tapia JC, Antonelli M, Stein GS, van Wijnen AJ, Galindo MA (April 2013). "The cancer-related transcription factor Runx2 modulates cell proliferation in human osteosarcoma cell lines". Journal of Cellular Physiology. 228 (4): 714–23. doi:10.1002/jcp.24218. PMC 3593672. PMID 22949168.

[6] «Five genes that give your nose its shape». American Association for the Advancement of Science.

[7] Lou Y, Javed A, Hussain S, Colby J, Frederick D, Pratap J, Xie R, Gaur T, van Wijnen AJ, Jones SN, Stein GS, Lian JB, Stein JL (February 2009). "A Runx2 threshold for the cleidocranial dysplasia phenotype". Human Molecular Genetics. 18 (3): 556–68. doi:10.1093/hmg/ddn383. PMC 2638795. PMID 19028669.

[pmid19389811-8] Baniwal SK, Khalid O, Sir D, Buchanan G, Coetzee GA, Frenkel B (August 2009). "Repression of Runx2 by androgen receptor (AR) in osteoblasts and prostate cancer cells: AR binds Runx2 and abrogates its recruitment to DNA". Molecular Endocrinology. 23 (8): 1203–14. doi:10.1210/me.2008-0470. PMC 2718746. PMID 19389811.

[pmid10962029-9] Zhang YW, Yasui N, Ito K, Huang G, Fujii M, Hanai J, Nogami H, Ochi T, Miyazono K, Ito Y (September 2000). "A RUNX2/PEBP2alpha A/CBFA1 mutation displaying impaired transactivation and Smad interaction in cleidocranial dysplasia". Proceedings of the National Academy of Sciences of the United States of America. 97 (19): 10549–54. doi:10.1073/pnas.180309597. PMC 27062. PMID 10962029.

[pmid10531362-10] Hanai J, Chen LF, Kanno T, Ohtani-Fujita N, Kim WY, Guo WH, Imamura T, Ishidou Y, Fukuchi M, Shi MJ, Stavnezer J, Kawabata M, Miyazono K, Ito Y (October 1999). "Interaction and functional cooperation of PEBP2/CBF with Smads. Synergistic induction of the immunoglobulin germline Calpha promoter". The Journal of Biological Chemistry. 274 (44): 31577–82. doi:10.1074/jbc.274.44.31577. PMID 10531362.