MEF2C

Protein sy'n cael ei godio yn y corff dynol gan y genyn MEF2C yw MEF2C a elwir hefyd yn MADS box transcription enhancer factor 2, polypeptide C (Myocyte enhancer factor 2C), isoform CRA_a a Myocyte enhancer factor 2C (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 5, band 5q14.3.^[2]

MEF2C
Dynodwyr
Cyfenwau	MEF2C, C5DELq14.3, DEL5q14.3, myocyte enhancer factor 2C
Dynodwyr allanol	OMIM: 600662 HomoloGene: 31087 GeneCards: MEF2C
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • 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 Cydrannau o'r gell • cnewyllyn cell • nuclear speck • intracellular membrane-bounded organelle • nucleoplasm • cytoplasm • postsynapse • Sarcoplasm • GO:0009327 protein-containing complex Prosesau biolegol • 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 apoptotic process • 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 • platelet formation • 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 • cell differentiation • 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 • endochondral ossification • regulation of neurotransmitter secretion • cellular response to fluid shear stress • nervous system development • 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 Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	4208	n/a
Ensembl	ENSG00000081189	n/a
UniProt	Q06413	n/a
RefSeq (mRNA)	NM_001131005 NM_001193347 NM_001193348 NM_001193349 NM_001193350 NM_001308002 NM_002397 NM_001363581	n/a
RefSeq (protein)	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	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search	[1]	n/a
Wicidata
Gweld/Golygu Bod dynol

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn MEF2C.

• DEL5q14.3
• C5DELq14.3

Llyfryddiaeth

• "MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review. ". Eur J Med Genet. 2016. PMID 27255693.
• "Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype. ". Am J Med Genet A. 2016. PMID 26864752.
• "High expression of myocyte enhancer factor 2C (MEF2C) is associated with adverse-risk features and poor outcome in pediatric acute myeloid leukemia: a report from the Children's Oncology Group. ". J Hematol Oncol. 2015. PMID 26487643.
• "Jugular pit associated with 5q14.3 deletion incorporating the MEF2C locus: a recurrent clinical finding. ". Clin Dysmorphol. 2016. PMID 26426104.
• "Partial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: review of the literature.". Am J Med Genet A. 2015. PMID 25691421.

Cyfeiriadau

1. "Human PubMed Reference:".
2. MEF2C - Cronfa NCBI