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url url url url
  2. Weltenzyklopädie
  3. GJB2 - ویکی‌پدیا، دانشنامهٔ آزاد
GJB2 - ویکی‌پدیا، دانشنامهٔ آزاد
از ویکی‌پدیا، دانشنامهٔ آزاد
GJB2
ساختارهای موجود
PDBجستجوی هم‌ساخت‌شناسی: PDBe RCSB
معین‌کننده‌ها
نام‌های دیگرGJB2, CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK, gap junction protein beta 2, BAPS
شناسه‌های بیرونیOMIM: 121011 MGI: 95720 HomoloGene: 2975 GeneCards: GJB2
هم‌ساخت‌شناسی
گونه‌هاانسانموش
Entrez

2706

14619

آنسامبل

ENSG00000165474

ENSMUSG00000046352

یونی‌پروت

P29033

Q00977

RefSeq (mRNA)

NM_004004 XM_011535049، NM_004004

NM_008125

RefSeq (پروتئین)

XP_011533351 NP_003995، XP_011533351

NP_032151

موقعیت (UCSC)ن/مChr : 57.34 – 57.34 Mb
جستجوی PubMed[۲][۳]
ویکی‌داده
مشاهده/ویرایش انسانمشاهده/ویرایش موش

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.[۴]

این ژن همچنین نقش سرکوب‌گر تومور را نیز از طریق میانجیگری در چرخهٔ تکثیر سلولی داراست.[۵] 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،[۶] سرطان پستان[۷] و سرطان مثانه[۸] 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[۹] و همچنین تحریک آنها به نامیرا شدن و قائم‌به‌ذات بودن،[۱۰] مؤثر باشد.

منابع

  1. ↑ ۱٫۰ ۱٫۱ ۱٫۲ 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. Archived from the original on 1 August 2021. Retrieved 25 April 2018.
  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 انگلیسی). 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 (به انگلیسی). 9 (1): 578. doi:10.1038/s41467-018-02938-1. PMID 29422613.

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