SMN2

SMN2 که برگرفته از عبارت «بقای سلول عصبی حرکتی ۲» (انگلیسی: Survival of motor neuron 2‎) است، نام یک ژن است که در انسان، پروتئین SMN را کد می‌کند.[4][5]

SMN2
ساختارهای موجود PDB Ortholog search: PDBe RCSB List of PDB id codes 1G5V, 1MHN, 2LEH, 3S6N, 4A4E, 4A4G, 4GLI, 4NL6, 4NL7, 4QQ6
معین‌کننده‌ها
نام‌های دیگر	SMN2, BCD541, C-BCD541, GEMIN1, SMNC, TDRD16B, survival of motor neuron 2, centromeric, survival motor neuron 2, centromeric
شناسه‌های بیرونی	OMIM: 601627 MGI: 109257 HomoloGene: 292 GeneCards: SMN2
Gene location (Mouse) Chr. Chromosome 13 (mouse)[1] Band 13 D1|13 52.99 cM Start 100,124,852 bp[1] End 100,137,690 bp[1]
هستی‌شناسی ژن عملکرد ملکولی • GO:0001948 پیوند پروتئینی • RNA binding • identical protein binding ترکیبات سلولی • سیتوپلاسم • SMN-Sm protein complex • سیتوزول • جسم کاخال • نوکلئوپلاسم • SMN complex • Z disc • neuron projection • cytoplasmic ribonucleoprotein granule • هسته یاخته • Gemini of coiled bodies • پریکاریون • cell projection فرایند زیستی • DNA-templated transcription, termination • mRNA processing • جنین‌شناسی دستگاه عصبی مرکزی • spliceosomal snRNP assembly • spliceosomal complex assembly • پیرایش آران‌ای • import into nucleus Sources:آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
گونه‌ها	انسان	موش
Entrez	6607	20595
آنسامبل	ENSG00000277773 ENSG00000205571 ENSG00000273772	ENSMUSG00000021645
یونی‌پروت	Q16637	P97801
RefSeq (mRNA)	NM_022875، NM_022876، NM_022877، XM_011543599، XM_011543600، XM_011543601، XM_011543602، XM_011543603، XM_017009787 NM_017411، NM_022875، NM_022876، NM_022877، XM_011543599، XM_011543600، XM_011543601، XM_011543602، XM_011543603، XM_017009787	NM_011420، XM_011244637 NM_001252629، NM_011420، XM_011244637
RefSeq (پروتئین)	NP_075013، NP_075014، NP_075015، XP_011541901، XP_011541902، XP_011541903، XP_011541904، XP_011541905، XP_016865276، NP_000335، NP_001284644، NP_075012، XP_011541898، XP_011541899، XP_011541900، XP_016865275 NP_059107، NP_075013، NP_075014، NP_075015، XP_011541901، XP_011541902، XP_011541903، XP_011541904، XP_011541905، XP_016865276، NP_000335، NP_001284644، NP_075012، XP_011541898، XP_011541899، XP_011541900، XP_016865275	NP_035550، XP_011242939 NP_001239558، NP_035550، XP_011242939
موقعیت (UCSC)	n/a	Chr : 100.12 – 100.14 Mb
جستجوی PubMed	[2]	[3]
ویکی‌داده
مشاهده/ویرایش Human View/Edit Mouse

با آنکه جهش در نسخهٔ تلومری ژن (یعنی SMN1) با بروز بیماری آتروفی عضلانی نخاعی در ارتباط است؛ اما جهش در SMN2 (نسخهٔ سانترومری آن) موجب بروز این بیماری نمی‌شود.

منابع

1. GRCm38: Ensembl release 89: ENSMUSG00000021645 - 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. Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M (January 1995). "Identification and characterization of a spinal muscular atrophy-determining gene". Cell. 80 (1): 155–65. doi:10.1016/0092-8674(95)90460-3. PMID 7813012.
5. "Entrez Gene: SMN2 survival of motor neuron 2, centromeric".

• مشارکت‌کنندگان ویکی‌پدیا. «SMN2». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۳ دسامبر ۲۰۱۷.

بیشتر بخوانید

• Watihayati MS, Fatemeh H, Marini M, Atif AB, Zahiruddin WM, Sasongko TH, Tang TH, Zabidi-Hussin ZA, Nishio H, Zilfalil BA (January 2009). "Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy". Brain & Development. 31 (1): 42–5. doi:10.1016/j.braindev.2008.08.012. PMID 18842367.
• Prior TW, Krainer AR, Hua Y, Swoboda KJ, Snyder PC, Bridgeman SJ, Burghes AH, Kissel JT (September 2009). "A positive modifier of spinal muscular atrophy in the SMN2 gene". American Journal of Human Genetics. 85 (3): 408–13. doi:10.1016/j.ajhg.2009.08.002. PMC 2771537. PMID 19716110.
• Coady TH, Baughan TD, Shababi M, Passini MA, Lorson CL (2008). Valcarcel J, ed. "Development of a single vector system that enhances trans-splicing of SMN2 transcripts". PLoS One. 3 (10): e3468. doi:10.1371/journal.pone.0003468. PMC 2565107. PMID 18941511.
• Elsheikh B, Prior T, Zhang X, Miller R, Kolb SJ, Moore D, Bradley W, Barohn R, Bryan W, Gelinas D, Iannaccone S, Leshner R, Mendell JR, Mendoza M, Russman B, Smith S, King W, Kissel JT (October 2009). "An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy". Muscle & Nerve. 40 (4): 652–6. doi:10.1002/mus.21350. PMID 19760790.
• Workman E, Saieva L, Carrel TL, Crawford TO, Liu D, Lutz C, Beattie CE, Pellizzoni L, Burghes AH (June 2009). "A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice". Human Molecular Genetics. 18 (12): 2215–29. doi:10.1093/hmg/ddp157. PMC 2685758. PMID 19329542.
• Bose JK, Wang IF, Hung L, Tarn WY, Shen CK (October 2008). "TDP-43 overexpression enhances exon 7 inclusion during the survival of motor neuron pre-mRNA splicing". The Journal of Biological Chemistry. 283 (43): 28852–9. doi:10.1074/jbc.M805376200. PMC 2661999. PMID 18703504.
• Hauke J, Riessland M, Lunke S, Eyüpoglu IY, Blümcke I, El-Osta A, Wirth B, Hahnen E (January 2009). "Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition". Human Molecular Genetics. 18 (2): 304–17. doi:10.1093/hmg/ddn357. PMC 2638778. PMID 18971205.
• Corcia P, Camu W, Praline J, Gordon PH, Vourch P, Andres C (2009). "The importance of the SMN genes in the genetics of sporadic ALS". Amyotrophic Lateral Sclerosis. 10 (5–6): 436–40. doi:10.3109/17482960902759162. PMID 19922137.
• Tiziano FD, Pinto AM, Fiori S, Lomastro R, Messina S, Bruno C, Pini A, Pane M, D'Amico A, Ghezzo A, Bertini E, Mercuri E, Neri G, Brahe C (January 2010). "SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR". European Journal of Human Genetics. 18 (1): 52–8. doi:10.1038/ejhg.2009.116. PMC 2987170. PMID 19603064.
• Jedrzejowska M, Milewski M, Zimowski J, Borkowska J, Kostera-Pruszczyk A, Sielska D, Jurek M, Hausmanowa-Petrusewicz I (2009). "Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease". Acta Biochimica Polonica. 56 (1): 103–8. PMID 19287802.
• Arkblad E, Tulinius M, Kroksmark AK, Henricsson M, Darin N (May 2009). "A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy". Acta Paediatrica. 98 (5): 865–72. doi:10.1111/j.1651-2227.2008.01201.x. PMID 19154529.
• Paushkin S, Gubitz AK, Massenet S, Dreyfuss G (June 2002). "The SMN complex, an assemblyosome of ribonucleoproteins". Current Opinion in Cell Biology. 14 (3): 305–12. doi:10.1016/S0955-0674(02)00332-0. PMID 12067652.
• Farooq F, Balabanian S, Liu X, Holcik M, MacKenzie A (November 2009). "p38 Mitogen-activated protein kinase stabilizes SMN mRNA through RNA binding protein HuR". Human Molecular Genetics. 18 (21): 4035–45. doi:10.1093/hmg/ddp352. PMID 19648294.
• Hasanzad M, Golkar Z, Kariminejad R, Hadavi V, Almadani N, Afroozan F, Salahshurifar I, Shafeghati Y, Kahrizi K, Najmabadi H (February 2009). "Deletions in the survival motor neuron gene in Iranian patients with spinal muscular atrophy". Annals of the Academy of Medicine, Singapore. 38 (2): 139–41. PMID 19271042.
• Martins de Araújo M, Bonnal S, Hastings ML, Krainer AR, Valcárcel J (April 2009). "Differential 3' splice site recognition of SMN1 and SMN2 transcripts by U2AF and U2 snRNP". RNA. 15 (4): 515–23. doi:10.1261/rna.1273209. PMC 2661831. PMID 19244360.
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• Cogulu O, Durmaz B, Pehlivan S, Alpman A, Ozkinay F (June 2009). "Evaluation of the SMN and NAIP genes in a family: homozygous deletion of the SMN2 gene in the fetus and outcome of the pregnancy". Genetic Testing and Molecular Biomarkers. 13 (3): 287–8. doi:10.1089/gtmb.2008.0139. PMID 19397406.