MECP2

MECP2
Strwythurau
PDB	Human UniProt search: PDBe RCSB
Rhestr o ddynodwyr PDB
	1QK9, 3C2I
Dynodwyr
Cyfenwau	MECP2, AUTSX3, MRX16, MRX79, MRXS13, MRXSL, PPMX, RS, RTS, RTT, methyl-CpG binding protein 2
Dynodwyr allanol	OMIM: 300005 HomoloGene: 3657 GeneCards: MECP2
Patrwm RNA pattern
	; ; ; ;
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• double-stranded methylated DNA binding; • GO:0001106 transcription corepressor activity; • protein domain specific binding; • protein N-terminus binding; • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity; • transcription factor binding; • siRNA binding; • mRNA binding; • chromatin binding; • GO:0001948, GO:0016582 protein binding; • DNA binding; • GO:0001078, GO:0001214, GO:0001206 DNA-binding transcription repressor activity, RNA polymerase II-specific; • RNA binding; • methyl-CpG binding;
Cydrannau o'r gell	• postsynapse; • cytoplasm; • mitocondria; • cnewyllyn cell; • GO:0035328 heterochromatin; • extracellular space; • gamma-tubulin complex; • centrosome; • cytosol; • chromatin; • nucleoplasm;
Prosesau biolegol	• GO:1904089 negative regulation of neuron apoptotic process; • multicellular organismal response to stress; • inositol metabolic process; • mitochondrial electron transport, ubiquinol to cytochrome c; • post-embryonic development; • learning; • propriodderbyniaeth; • neuron projection development; • regulation of gene expression by genetic imprinting; • GO:0009373 regulation of transcription, DNA-templated; • pathogenesis; • neuromuscular process controlling posture; • adult locomotory behavior; • Cof; • transcription, DNA-templated; • ventricular system development; • neuron maturation; • GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated; • glutamine metabolic process; • neuromuscular process; • histone acetylation; • excitatory postsynaptic potential; • nervous system process involved in regulation of systemic arterial blood pressure; • social behavior; • synapse assembly; • chemical synaptic transmission; • negative regulation of histone methylation; • startle response; • glucocorticoid metabolic process; • dendrite development; • GO:1901227 negative regulation of transcription by RNA polymerase II; • behavioral fear response; • respiratory gaseous exchange by respiratory system; • cerebellum development; • regulation of synaptic plasticity; • cardiolipin metabolic process; • neuron differentiation; • regulation of gene expression; • sensory perception of pain; • GO:0045996 negative regulation of transcription, DNA-templated; • phosphatidylcholine metabolic process; • visual learning; • GO:0034613 protein localization; • response to hypoxia; • regulation of gene expression, epigenetic; • cellular biogenic amine metabolic process; • regulation of respiratory gaseous exchange by nervous system process; • brain development; • long-term memory; • histone methylation; • negative regulation of histone acetylation; • catecholamine secretion; • long-term potentiation; • positive regulation of synapse assembly; • negative regulation of smooth muscle cell differentiation; • positive regulation of histone H3-K9 trimethylation; • negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation; • GO:0043148 mitotic spindle organization; • locomotory behavior; • positive regulation of cell population proliferation; • response to radiation; • positive regulation of G2/M transition of mitotic cell cycle; • positive regulation of microtubule nucleation; • transcription initiation from RNA polymerase II promoter; • negative regulation of gene expression; • negative regulation of angiogenesis; • negative regulation of blood vessel endothelial cell migration; • positive regulation of DNA methylation;
	Sources:Amigo / QuickGO
Orthologau
	4204
	n/a
	ENSG00000169057
	n/a
	P51608
	n/a
NM_001110792; NM_004992; NM_001316337; NM_001369391; NM_001369392;
	NM_001369393; NM_001369394; NM_001386137; NM_001386138; NM_001386139
	n/a
NP_001104262; NP_001303266; NP_004983; NP_001356320; NP_001356321;
	NP_001356322; NP_001356323
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn MECP2 yw MECP2 a elwir hefyd yn Methyl-CpG binding protein 2 (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 X dynol, band Xq28.^[2]

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 MECP2.

RS
RTS
RTT
PPMX
MRX16
MRX79
MRXSL
AUTSX3
MRXS13

Llyfryddiaeth

"Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family. ". BMC Med Genet. 2017. PMID 29141583.
"Biophysical characterization of the basic cluster in the transcription repression domain of human MeCP2 with AT-rich DNA. ". Biochem Biophys Res Commun. 2018. PMID 29101034.
"MECP2 expression in gastric cancer and its correlation with clinical pathological parameters. ". Medicine (Baltimore). 2017. PMID 28767600.
"MeCP2, A Modulator of Neuronal Chromatin Organization Involved in Rett Syndrome. ". Adv Exp Med Biol. 2017. PMID 28523538.
"Potential role of DNA methylation as a facilitator of target search processes for transcription factors through interplay with methyl-CpG-binding proteins.". Nucleic Acids Res. 2017. PMID 28486614.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] MECP2 - Cronfa NCBI

[1]

[2]