GJB2

GJB2
ساختارهای موجود
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2ZW3, 3IZ1, 3IZ2, 5ERA, 5ER7
معین‌کننده‌ها
نام‌های دیگر	GJB2, CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK, gap junction protein beta 2, BAPS
شناسه‌های بیرونی	OMIM: 121011 MGI: 95720 HomoloGene: 2975 GeneCards: GJB2
Gene location (Mouse)
Chr.	Chromosome 14 (mouse)[1]
End	57,104,702 bp[1]
هستی‌شناسی ژن
عملکرد ملکولی	• identical protein binding; • gap junction channel activity; • calcium ion binding; • metal ion binding;
ترکیبات سلولی	• integral component of membrane; • connexin complex; • membrane; • پوسته یاخته; • پیوند میان‌یاخته‌ای; • اتصالات شکاف‌دار; • endoplasmic reticulum-Golgi intermediate compartment; • سیتوپلاسم; • سیتوزول; • lateral plasma membrane; • cell body; • perinuclear region of cytoplasm; • astrocyte projection; • integral component of plasma membrane;
فرایند زیستی	• sensory perception of sound; • cell communication; • cell-cell signaling; • gap junction assembly; • response to ischemia; • female pregnancy; • پیرش; • response to estradiol; • response to lipopolysaccharide; • response to retinoic acid; • response to progesterone; • cellular response to oxidative stress; • response to human chorionic gonadotropin; • response to antibiotic; • decidualization; • inner ear development; • transmembrane transport; • cellular response to glucagon stimulus; • cellular response to dexamethasone stimulus; • epididymis development; • gap junction-mediated intercellular transport;
	Sources:آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	2706
	14619
	ENSG00000165474
	ENSMUSG00000046352
	P29033
	Q00977
	NM_004004 XM_011535049، NM_004004
	NM_008125
	XP_011533351 NP_003995، XP_011533351
	NP_032151
	ویکی‌داده
مشاهده/ویرایش Human	View/Edit Mouse

GJB2 با عنوانِ کاملِ پروتئین بتا ۲ اتصال منفذدار (انگلیسی: Gap junction beta-2 protein‎) که با نام کانکسین ۲۶ هم شناخته می‌شود، پروتئینی است که در انسان توسط ژن «GJB2» کدگذاری می‌شود.

اهمیت بالینی

نقص در این ژن منجر به بروز شایع‌ترین نوع «ناشنوایی مادرزادی» موسوم به DFNB1 می‌گردد.[4]

این ژن همچنین نقش سرکوب‌گر تومور را نیز از طریق میانجیگری در چرخهٔ تکثیر سلولی داراست.[5] هرگونه ناهنجاری در بیان این ژن در بروز چندین نوع سرطان در انسان نقش داشته و ممکن است به‌عنوان فاکتور پیش‌گویی‌کنندهٔ پیش‌آگهی برخی سرطان‌ها همچون سرطان روده بزرگ،[6] سرطان پستان[7] و سرطان مثانه[8] نیز بکار رود. از طرفی، تولید بیش‌ازحدِ کانکسین ۲۶ نیز ممکن است منجر به پیشرفت سرطان از طریق تسهیل مهاجرت سلولی و تهاجم آنها به اطراف[9] و همچنین تحریک آنها به نامیرا شدن و قائم‌به‌ذات بودن،[10] مؤثر باشد.

منابع

GRCm38: Ensembl release 89: ENSMUSG00000046352 - 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.
Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM (May 1997). "Connexin 26 mutations in hereditary non-syndromic sensorineural deafness". Nature. 387 (6628): 80–3. doi:10.1038/387080a0. PMID 9139825.
Tanaka,Motoyoshi; Barton, Grossman,H. (2004-02-01). "Connexin 26 induces growth suppression, apoptosis and increased efficacy of doxorubicin in prostate cancer cells". Oncology Reports. 11 (2). ISSN 1021-335X.
Nomura S, Maeda K, Noda E, Inoue T, Fukunaga S, Nagahara H, Hirakawa K (June 2010). "Clinical significance of the expression of connexin26 in colorectal cancer". Journal of Experimental & Clinical Cancer Research. 29: 79. doi:10.1186/1756-9966-29-79. PMID 20565955.
Teleki I, Krenacs T, Szasz MA, Kulka J, Wichmann B, Leo C, Papassotiropoulos B, Riemenschnitter C, Moch H, Varga Z (February 2013). "The potential prognostic value of connexin 26 and 46 expression in neoadjuvant-treated breast cancer". BMC Cancer. 13: 50. doi:10.1186/1471-2407-13-50. PMID 23374644.
Gee J, Tanaka M, Grossman HB (March 2003). "Connexin 26 is abnormally expressed in bladder cancer". The Journal of Urology (به English). 169 (3): 1135–7. doi:10.1097/01.ju.0000041954.91331.df. PMID 12576868.
Kotini M, Mayor R (May 2015). "Connexins in migration during development and cancer". Developmental Biology. 401 (1): 143–51. doi:10.1016/j.ydbio.2014.12.023. PMID 25553982.
Thiagarajan PS, Sinyuk M, Turaga SM, Mulkearns-Hubert EE, Hale JS, Rao V, et al. (February 2018). "Cx26 drives self-renewal in triple-negative breast cancer via interaction with NANOG and focal adhesion kinase". Nature Communications. 9 (1): 578. doi:10.1038/s41467-018-02938-1. PMID 29422613.

مشارکت‌کنندگان ویکی‌پدیا. «GJB2». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۲۵ آوریل ۲۰۱۸.

بیشتر بخوانید

Kenneson A, Van Naarden Braun K, Boyle C (2002). "GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review". Genetics in Medicine. 4 (4): 258–74. doi:10.1097/00125817-200207000-00004. PMID 12172392.
Thalmann R, Henzl MT, Killick R, Ignatova EG, Thalmann I (January 2003). "Toward an understanding of cochlear homeostasis: the impact of location and the role of OCP1 and OCP2". Acta Oto-Laryngologica. 123 (2): 203–8. doi:10.1080/0036554021000028100. PMID 12701741.
Yotsumoto S, Hashiguchi T, Chen X, Ohtake N, Tomitaka A, Akamatsu H, Matsunaga K, Shiraishi S, Miura H, Adachi J, Kanzaki T (April 2003). "Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome". The British Journal of Dermatology. 148 (4): 649–53. doi:10.1046/j.1365-2133.2003.05245.x. PMID 12752120.
Apps SA, Rankin WA, Kurmis AP (February 2007). "Connexin 26 mutations in autosomal recessive deafness disorders: a review". International Journal of Audiology. 46 (2): 75–81. doi:10.1080/14992020600582190. PMID 17365058.
Welch KO, Marin RS, Pandya A, Arnos KS (July 2007). "Compound heterozygosity for dominant and recessive GJB2 mutations: effect on phenotype and review of the literature". American Journal of Medical Genetics. Part A. 143A (14): 1567–73. doi:10.1002/ajmg.a.31701. PMID 17431919.
Harris A, Locke D (2009). Connexins, A Guide. New York: Springer. p. 574. ISBN 978-1-934115-46-6.
Smith RJ, Shearer AE, Hildebrand MS, Van Camp G (January 2014). Deafness and Hereditary Hearing Loss Overview. NBK1434. In Pagon RA, Bird TD, Dolan CR, et al., eds. (1993). GeneReviews™ [Internet]. Seattle WA: University of Washington, Seattle.
Smith RJ, Sheffield AM, Van Camp G (2012-04-19). Nonsyndromic Hearing Loss and Deafness, DFNA3. NBK1536. In GeneReviews
Smith RJ, Van Camp G (2014-01-02). Nonsyndromic Hearing Loss and Deafness, DFNB1. NBK1272. In GeneReviews

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[refGRCm38Ensembl-1] GRCm38: Ensembl release 89: ENSMUSG00000046352 - 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.

[4] Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM (May 1997). "Connexin 26 mutations in hereditary non-syndromic sensorineural deafness". Nature. 387 (6628): 80–3. doi:10.1038/387080a0. PMID 9139825.

[5] Tanaka,Motoyoshi; Barton, Grossman,H. (2004-02-01). "Connexin 26 induces growth suppression, apoptosis and increased efficacy of doxorubicin in prostate cancer cells". Oncology Reports. 11 (2). ISSN 1021-335X.

[6] Nomura S, Maeda K, Noda E, Inoue T, Fukunaga S, Nagahara H, Hirakawa K (June 2010). "Clinical significance of the expression of connexin26 in colorectal cancer". Journal of Experimental & Clinical Cancer Research. 29: 79. doi:10.1186/1756-9966-29-79. PMID 20565955.

[7] Teleki I, Krenacs T, Szasz MA, Kulka J, Wichmann B, Leo C, Papassotiropoulos B, Riemenschnitter C, Moch H, Varga Z (February 2013). "The potential prognostic value of connexin 26 and 46 expression in neoadjuvant-treated breast cancer". BMC Cancer. 13: 50. doi:10.1186/1471-2407-13-50. PMID 23374644.

[8] Gee J, Tanaka M, Grossman HB (March 2003). "Connexin 26 is abnormally expressed in bladder cancer". The Journal of Urology (به English). 169 (3): 1135–7. doi:10.1097/01.ju.0000041954.91331.df. PMID 12576868.

[9] Kotini M, Mayor R (May 2015). "Connexins in migration during development and cancer". Developmental Biology. 401 (1): 143–51. doi:10.1016/j.ydbio.2014.12.023. PMID 25553982.

[10] Thiagarajan PS, Sinyuk M, Turaga SM, Mulkearns-Hubert EE, Hale JS, Rao V, et al. (February 2018). "Cx26 drives self-renewal in triple-negative breast cancer via interaction with NANOG and focal adhesion kinase". Nature Communications. 9 (1): 578. doi:10.1038/s41467-018-02938-1. PMID 29422613.