MEF2C

MEF2C
Ідентифікатори
Символи	MEF2C, C5DELq14.3, DEL5q14.3, myocyte enhancer factor 2C
Зовнішні ІД	OMIM: 600662 MGI: 99458 HomoloGene: 31087 GeneCards: MEF2C
Пов'язані генетичні захворювання
	mental retardation, autosomal dominant 20
Онтологія гена
Молекулярна функція	• protein dimerization activity; • 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; • histone deacetylase binding; • GO:0000983 RNA polymerase II general transcription initiation factor activity; • core promoter sequence-specific DNA binding; • RNA polymerase II transcription regulatory region sequence-specific DNA binding; • HMG box domain binding; • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding; • minor groove of adenine-thymine-rich DNA binding; • chromatin binding; • GO:0001158 cis-regulatory region sequence-specific DNA binding; • GO:0001948, GO:0016582 protein binding; • DNA binding; • sequence-specific DNA binding; • protein heterodimerization activity; • transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding; • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific;
Клітинна компонента	• клітинне ядро; • nuclear speck; • внутрішньоклітинна мембранна органела; • нуклеоплазма; • цитоплазма; • postsynapse; • Саркоплазма; • GO:0009327 protein-containing complex;
Біологічний процес	• GO:1904089 negative regulation of neuron apoptotic process; • embryonic skeletal system morphogenesis; • myotube differentiation; • positive regulation of skeletal muscle tissue development; • cell morphogenesis involved in neuron differentiation; • positive regulation of muscle cell differentiation; • regulation of synapse assembly; • muscle organ development; • outflow tract morphogenesis; • monocyte differentiation; • sinoatrial valve morphogenesis; • negative regulation of ossification; • heart looping; • positive regulation of skeletal muscle cell differentiation; • blood vessel remodeling; • blood vessel development; • positive regulation of cardiac muscle cell proliferation; • humoral immune response; • positive regulation of alkaline phosphatase activity; • negative regulation of epithelial cell proliferation; • regulation of synaptic transmission, glutamatergic; • melanocyte differentiation; • GO:0097285 апоптоз; • B cell receptor signaling pathway; • cellular response to calcium ion; • cellular response to transforming growth factor beta stimulus; • renal tubule morphogenesis; • nephron tubule epithelial cell differentiation; • cell fate commitment; • cardiac ventricle formation; • GO:0009373 regulation of transcription, DNA-templated; • cardiac muscle cell differentiation; • regulation of neuron apoptotic process; • Тромбоцитопоез; • neuron development; • smooth muscle cell differentiation; • positive regulation of protein homodimerization activity; • negative regulation of gene expression; • transcription, DNA-templated; • cellular response to trichostatin A; • GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated; • heart development; • epithelial cell proliferation involved in renal tubule morphogenesis; • cardiac muscle hypertrophy in response to stress; • positive regulation of B cell proliferation; • positive regulation of neuron differentiation; • excitatory postsynaptic potential; • learning or memory; • positive regulation of macrophage apoptotic process; • positive regulation of cardiac muscle cell differentiation; • cellular response to parathyroid hormone stimulus; • primary heart field specification; • secondary heart field specification; • regulation of dendritic spine development; • regulation of germinal center formation; • roof of mouth development; • диференціація клітин; • chondrocyte differentiation; • positive regulation of bone mineralization; • neural crest cell differentiation; • neuron migration; • B cell homeostasis; • GO:1901227 negative regulation of transcription by RNA polymerase II; • осифікація ендохондральна; • regulation of neurotransmitter secretion; • cellular response to fluid shear stress; • нейробіологія розвитку; • regulation of synaptic plasticity; • regulation of NMDA receptor activity; • muscle cell fate determination; • positive regulation of osteoblast differentiation; • regulation of synaptic activity; • osteoblast differentiation; • neuron differentiation; • regulation of sarcomere organization; • skeletal muscle cell differentiation; • positive regulation of behavioral fear response; • glomerulus morphogenesis; • germinal center formation; • positive regulation of cell proliferation in bone marrow; • MAPK cascade; • regulation of AMPA receptor activity; • multicellular organism development; • B cell proliferation; • GO:1901313 positive regulation of gene expression; • positive regulation of myoblast differentiation; • cartilage morphogenesis; • embryonic viscerocranium morphogenesis; • ventricular cardiac muscle cell differentiation; • cellular response to lipopolysaccharide; • skeletal muscle tissue development; • regulation of megakaryocyte differentiation; • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II; • transcription by RNA polymerase II; • negative regulation of blood vessel endothelial cell migration; • negative regulation of vascular associated smooth muscle cell proliferation; • negative regulation of vascular associated smooth muscle cell migration; • negative regulation of vascular endothelial cell proliferation;
	Джерела:Amigo / QuickGO
Шаблон експресії
	; ; ; ;
	Більше даних
Ортологи
	4208
	17260
	ENSG00000081189
	ENSMUSG00000005583
	Q06413
	Q8CFN5
NM_001131005; NM_001193347; NM_001193348; NM_001193349; NM_001193350;
	NM_001308002; NM_002397; NM_001363581
	NM_001170537; NM_025282
NP_001124477; NP_001180276; NP_001180277; NP_001180278; NP_001180279;
	NP_001294931; NP_002388; NP_001350510; NP_001351258; NP_001351259; NP_001351260; NP_001351261; NP_001351262; NP_001351263; NP_001351264; NP_001351265; NP_001351266; NP_001351267; NP_001351268; NP_001351269; NP_001351270; NP_001351271; NP_001351272; NP_001351273; NP_001351274; NP_001351275; NP_001351276; NP_001351277; NP_001351278; NP_001351279; NP_001351281; NP_001351282; NP_001351283; NP_001351284; NP_001351285; NP_001351286; NP_001294931.1
NP_001164008; NP_001334493; NP_001334495; NP_001334496; NP_001334497;
	NP_001334498; NP_001334500; NP_001334501; NP_001334502; NP_001334503; NP_001334504; NP_001334505; NP_001334506; NP_001334507; NP_001334508; NP_001334509; NP_001334510; NP_079558
	Вікідані
Див./Ред. для людей	Див./Ред. для мишей

MEF2C (англ. Myocyte enhancer factor 2C) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 5-ї хромосоми. ^[4] Довжина поліпептидного ланцюга білка становить 473 амінокислот, а молекулярна маса — 51 221^[5].

Послідовність амінокислот

10	20	30	40	50
MGRKKIQITR	IMDERNRQVT	FTKRKFGLMK	KAYELSVLCD	CEIALIIFNS
TNKLFQYAST	DMDKVLLKYT	EYNEPHESRT	NSDIVETLRK	KGLNGCDSPD
PDADDSVGHS	PESEDKYRKI	NEDIDLMISR	QRLCAVPPPN	FEMPVSIPVS
SHNSLVYSNP	VSSLGNPNLL	PLAHPSLQRN	SMSPGVTHRP	PSAGNTGGLM
GGDLTSGAGT	SAGNGYGNPR	NSPGLLVSPG	NLNKNMQAKS	PPPMNLGMNN
RKPDLRVLIP	PGSKNTMPSV	SEDVDLLLNQ	RINNSQSAQS	LATPVVSVAT
PTLPGQGMGG	YPSAISTTYG	TEYSLSSADL	SSLSGFNTAS	ALHLGSVTGW
QQQHLHNMPP	SALSQLGACT	STHLSQSSNL	SLPSTQSLNI	KSEPVSPPRD
RTTTPSRYPQ	HTRHEAGRSP	VDSLSSCSSS	YDGSDREDHR	NEFHSPIGLT
RPSPDERESP	SVKRMRLSEG	WAT

A: Аланін

C: Цистеїн

D: Аспарагінова кислота

E: Глутамінова кислота

F: Фенілаланін

G: Гліцин

H: Гістидин

I: Ізолейцин

K: Лізин

L: Лейцин

M: Метіонін

N: Аспарагін

P: Пролін

Q: Глутамін

R: Аргінін

S: Серин

T: Треонін

V: Валін

W: Триптофан

Y: Тирозин

Кодований геном білок за функціями належить до активаторів, білків розвитку, фосфопротеїнів. Задіяний у таких біологічних процесах як апоптоз, транскрипція, регуляція транскрипції, диференціація, нейрогенез, ацетилювання, альтернативний сплайсинг. Білок має сайт для зв'язування з ДНК. Локалізований у ядрі.

Література

Han J., Jiang Y., Li Z., Kravchenko V.V., Ulevitch R.J. (1997). Activation of the transcription factor MEF2C by the MAP kinase p38 in inflammation. Nature. 386: 296—299. PMID 9069290 doi:10.1038/386296a0
Swanson B.J., Jaeck H.-M., Lyons G.E. (1998). Characterization of myocyte enhancer factor 2 (MEF2) expression in B and T cells: MEF2C is a B cell-restricted transcription factor in lymphocytes. Mol. Immunol. 35: 445—458. PMID 9798649 doi:10.1016/S0161-5890(98)00058-3
Zhou X., Marks P.A., Rifkind R.A., Richon V.M. (2001). Cloning and characterization of a histone deacetylase, HDAC9. Proc. Natl. Acad. Sci. U.S.A. 98: 10572—10577. PMID 11535832 doi:10.1073/pnas.191375098
Zhu B., Gulick T. (2004). Phosphorylation and alternative pre-mRNA splicing converge to regulate myocyte enhancer factor 2C activity. Mol. Cell. Biol. 24: 8264—8275. PMID 15340086 doi:10.1128/MCB.24.18.8264-8275.2004
Gocke C.B., Yu H., Kang J. (2005). Systematic identification and analysis of mammalian small ubiquitin-like modifier substrates. J. Biol. Chem. 280: 5004—5012. PMID 15561718 doi:10.1074/jbc.M411718200
Zhu B., Ramachandran B., Gulick T. (2005). Alternative pre-mRNA splicing governs expression of a conserved acidic transactivation domain in myocyte enhancer factor 2 factors of striated muscle and brain. J. Biol. Chem. 280: 28749—28760. PMID 15834131 doi:10.1074/jbc.M502491200