MECP2

MECP2
Structures disponibles PDB Recherche d'orthologue : PDBe RCSB Identifiants PDB 1QK9, 3C2I
Identifiants
Alias	MECP2
IDs externes	OMIM: 300005 MGI: 99918 HomoloGene: 3657 GeneCards: MECP2
Position du gène (humain) Chr. Chromosome X Locus Xq28 Début 154,021,573 bp Fin 154,137,103 bp
Position du gène (souris) Chr. X chromosome (souris) Locus X A7.3|X 37.63 cM Début 73,070,198 bp Fin 73,178,969 bp
Expression génique Bgee Humain Souris (orthologue) Fortement exprimé dans paraflocculus of cerebellum Brodmann area 10 nerf sural frontal pole epithelium of colon gyrus frontal moyen Vermis du cervelet tendon calcanéen gyrus postcentral sang Fortement exprimé dans substantia nigra Rostral migratory stream glande pinéale habenula dorsal striatum Region I of hippocampus proper anterior amygdaloid area colliculus supérieur corps ciliaire lateral septal nucleus Plus de données d'expression de référence BioGPS Plus de données d'expression de référence
Gene Ontology Fonction moléculaire double-stranded methylated DNA binding transcription corepressor activity protein domain specific binding protein N-terminus binding DNA-binding transcription factor activity transcription factor binding liaison pARNi liaison ARNm liaison de chromatine liaison protéique liaison ADN DNA-binding transcription repressor activity, RNA polymerase II-specific liaison ARN methyl-CpG binding Composant cellulaire postsynapse cytoplasme mitochondrie noyau hétérochromatine milieu extracellulaire gamma-tubulin complex centrosome cytosol chromatine nucléoplasme Processus biologique negative regulation of neuron apoptotic process multicellular organismal response to stress inositol metabolic process mitochondrial electron transport, ubiquinol to cytochrome c développement postembryonnaire apprentissage proprioception neuron projection development regulation of gene expression by genetic imprinting regulation of transcription, DNA-templated pathogenèse neuromuscular process controlling posture adult locomotory behavior mémoire transcription, DNA-templated ventricular system development neuron maturation régulation positive de la transcription dépendante de l'ADN glutamine metabolic process neuromuscular process histone acetylation Potentiel postsynaptique excitateur nervous system process involved in regulation of systemic arterial blood pressure comportement social Synaptogenèse transmission synaptique chimique negative regulation of histone methylation réflexe de sursaut acoustique glucocorticoid metabolic process synthèse des dentrites 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 différenciation d'un neurone régulation de l'expression des gènes nociception negative regulation of transcription, DNA-templated phosphatidylcholine metabolic process visual learning protein localization response to hypoxia regulation of gene expression, epigenetic cellular biogenic amine metabolic process regulation of respiratory gaseous exchange by nervous system process développement cérébral mémoire à long terme histone methylation negative regulation of histone acetylation catecholamine secretion potentialisation à long terme 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 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
Orthologues Espèces Homme Souris Entrez 4204 17257 Ensembl ENSG00000169057 ENSMUSG00000031393 UniProt P51608 Q9Z2D6 RefSeq (mRNA) NM_001110792 NM_004992 NM_001316337 NM_001369391 NM_001369392 NM_001369393 NM_001369394 NM_001386137 NM_001386138 NM_001386139 NM_001081979 NM_010788 RefSeq (protéine) NP_001104262 NP_001303266 NP_004983 NP_001356320 NP_001356321 NP_001356322 NP_001356323 NP_001075448 NP_034918 Localisation (UCSC) Chr X: 154.02 – 154.14 Mb Chr X: 73.07 – 73.18 Mb Publication PubMed
Wikidata
Voir/Editer Humain Voir/Editer Souris

Le MECP2 (anciennement connu comme MRX16 ou MRX79) est un gène du chromosome X humain.

Interactions

MECP2 est phosphorylée par MSK1 dans un processus médié par le BDNF.

Maladies liées

• Syndrome de duplication du gène MECP2 (MECP2dupS)