اکتینین آلفا ۲

ACTN2
ساختارهای موجود
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1H8B, 1HCI, 1QUU, 4D1E, 5A37, 5A36, 5A38, 5A4B
معین‌کننده‌ها
نام‌های دیگر	ACTN2, CMD1AA, CMH23, actinin alpha 2, MYOCOZ, MPD6
شناسه‌های بیرونی	OMIM: 102573 MGI: 109192 HomoloGene: 31016 GeneCards: ACTN2
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)[1]
End	12,340,760 bp[1]
الگوی گسترش RNA
	; ; ; ;
	More reference expression data
هستی‌شناسی ژن
عملکرد ملکولی	• calcium ion binding; • protein dimerization activity; • protein homodimerization activity; • ion channel binding; • protein domain specific binding; • titin Z domain binding; • LIM domain binding; • titin binding; • metal ion binding; • cytoskeletal protein binding; • integrin binding; • actin filament binding; • GO:0001948 پیوند پروتئینی; • nuclear receptor coactivator activity; • identical protein binding; • FATZ binding; • actin binding; • phosphatidylinositol-4,5-bisphosphate binding; • structural constituent of muscle;
ترکیبات سلولی	• سیتوپلاسم; • سیتوزول; • پای کاذب; • focal adhesion; • filopodium; • پوسته یاخته; • سارکومر; • dendritic spine; • extracellular region; • Z disc; • cortical actin cytoskeleton; • ریزرشته; • extracellular exosome; • اسکلت سلولی; • platelet alpha granule lumen; • postsynaptic density membrane; • glutamatergic synapse; • postsynaptic density, intracellular component;
فرایند زیستی	• positive regulation of cation channel activity; • regulation of apoptotic process; • کشش ماهیچه; • positive regulation of potassium ion transport; • phospholipase C-activating angiotensin-activated signaling pathway; • cardiac muscle cell development; • regulation of membrane potential; • platelet degranulation; • actin filament uncapping; • MAPK cascade; • focal adhesion assembly; • negative regulation of protein localization to cell surface; • positive regulation of signaling receptor activity; • cell adhesion; • negative regulation of potassium ion transmembrane transporter activity; • negative regulation of potassium ion transport; • regulation of nucleic acid-templated transcription; • microspike assembly; • positive regulation of endocytic recycling; • muscle filament sliding; • protein homotetramerization; • sarcomere organization; • positive regulation of potassium ion transmembrane transporter activity; • protein localization to plasma membrane; • positive regulation of nucleic acid-templated transcription; • regulation of NMDA receptor activity;
	Sources:آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	88
	11472
	ENSG00000077522
	ENSMUSG00000052374
	P35609
	Q9JI91
	NM_001278343، NM_001278344 NM_001103، NM_001278343، NM_001278344
	XM_011244263 NM_033268، XM_011244263
	NP_001265272، NP_001265273 NP_001094، NP_001265272، NP_001265273
	XP_036013730 NP_150371، XP_036013730
	ویکی‌داده
مشاهده/ویرایش Human	View/Edit Mouse

اکتینین آلفا ۲ (انگلیسی: Actinin alpha 2‎) یک پروتئین است که در انسان توسط ژن «ACTN2» کُدگذاری می‌شود.[4] این ژن نوع خاصی از آلفا اکتینین را کدگذاری می‌کند که ماهیچه‌های اسکلتی و قلبی بیان می‌گردد و ریزرشته‌های اکتین و تاینین را به سارکومر متصل می‌کند.

اهمیت بالینی

جهش در ژن «ACTN2» با بروز «کاردیومیوپاتی هیپرتروفیک» [5] و «کاردیومیوپاتی اتساعی» و «فیبروالاستوز اندوکاردیال»[6] در ارتباط است.

منابع

GRCm38: Ensembl release 89: ENSMUSG00000052374 - 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: ACTN2 actinin, alpha 2".
Chiu C, Bagnall RD, Ingles J, Yeates L, Kennerson M, Donald JA, Jormakka M, Lind JM, Semsarian C (March 2010). "Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis". Journal of the American College of Cardiology. 55 (11): 1127–35. doi:10.1016/j.jacc.2009.11.016. PMID 20022194.
Mohapatra B, Jimenez S, Lin JH, Bowles KR, Coveler KJ, Marx JG, Chrisco MA, Murphy RT, Lurie PR, Schwartz RJ, Elliott PM, Vatta M, McKenna W, Towbin JA, Bowles NE (2003). "Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis". Molecular Genetics and Metabolism. 80 (1–2): 207–15. doi:10.1016/s1096-7192(03)00142-2. PMID 14567970.

مشارکت‌کنندگان ویکی‌پدیا. «Actinin alpha 2». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۲۵ اوت ۲۰۱۹.

برای مطالعهٔ بیشتر

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Beggs AH, Byers TJ, Knoll JH, Boyce FM, Bruns GA, Kunkel LM (May 1992). "Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11". The Journal of Biological Chemistry. 267 (13): 9281–8. PMID 1339456.
Beggs AH, Phillips HA, Kozman H, Mulley JC, Wilton SD, Kunkel LM, Laing NG (August 1992). "A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1". Genomics. 13 (4): 1314–5. doi:10.1016/0888-7543(92)90054-V. PMID 1505962.
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Zhou Q, Ruiz-Lozano P, Martone ME, Chen J (July 1999). "Cypher, a striated muscle-restricted PDZ and LIM domain-containing protein, binds to alpha-actinin-2 and protein kinase C". The Journal of Biological Chemistry. 274 (28): 19807–13. doi:10.1074/jbc.274.28.19807. PMID 10391924.
Faulkner G, Pallavicini A, Formentin E, Comelli A, Ievolella C, Trevisan S, Bortoletto G, Scannapieco P, Salamon M, Mouly V, Valle G, Lanfranchi G (July 1999). "ZASP: a new Z-band alternatively spliced PDZ-motif protein". The Journal of Cell Biology. 146 (2): 465–75. doi:10.1083/jcb.146.2.465. PMC 3206570. PMID 10427098.
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پیوند به بیرون

مکان ژنوم ACTN2 انسانی و صفحهٔ جزئیات ژنی ACTN2 در سامانه جستجوی بانک ژنی دانشگاه کالیفرنیا، سانتا کروز.

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[refGRCm38Ensembl-1] GRCm38: Ensembl release 89: ENSMUSG00000052374 - 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.

[entrez-4] "Entrez Gene: ACTN2 actinin, alpha 2".

[5] Chiu C, Bagnall RD, Ingles J, Yeates L, Kennerson M, Donald JA, Jormakka M, Lind JM, Semsarian C (March 2010). "Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis". Journal of the American College of Cardiology. 55 (11): 1127–35. doi:10.1016/j.jacc.2009.11.016. PMID 20022194.

[6] Mohapatra B, Jimenez S, Lin JH, Bowles KR, Coveler KJ, Marx JG, Chrisco MA, Murphy RT, Lurie PR, Schwartz RJ, Elliott PM, Vatta M, McKenna W, Towbin JA, Bowles NE (2003). "Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis". Molecular Genetics and Metabolism. 80 (1–2): 207–15. doi:10.1016/s1096-7192(03)00142-2. PMID 14567970.