• Gene id: 4204

Gene Summary

• Gene Symbol: MECP2   Gene   UCSC   Ensembl
• Aliases: AUTSX3, MRX16, MRX79, MRXS13, MRXSL, PPMX, RS, RTS, RTT
• Gene name: methyl-CpG binding protein 2
• Alternate names: methyl-CpG-binding protein 2, meCp-2 protein,
• Gene location: Xq28 (154097730: 154021572)     Exons: 10     NC_000023.11
• Gene summary(Entrez): DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG bi
• OMIM: 300005

Protein Summary

• Protein general information: P51608  
  • Name: Methyl CpG binding protein 2 (MeCp 2 protein) (MeCp2)
  • Length: 486  
  • Mass: 52441
  • Tissue specificity: Present in all adult somatic tissues tested.
• Sequence:

  MVAGMLGLREEKSEDQDLQGLKDKPLKFKKVKKDKKEEKEGKHEPVQPSAHHSAEPAEAGKAETSEGSGSAPAVP
  EASASPKQRRSIIRDRGPMYDDPTLPEGWTRKLKQRKSGRSAGKYDVYLINPQGKAFRSKVELIAYFEKVGDTSL
  DPNDFDFTVTGRGSPSRREQKPPKKPKSPKAPGTGRGRGRPKGSGTTRPKAATSEGVQVKRVLEKSPGKLLVKMP
  FQTSPGGKAEGGGATTSTQVMVIKRPGRKRKAEADPQAIPKKRGRKPGSVVAAAAAEAKKKAVKESSIRSVQETV
  LPIKKRKTRETVSIEVKEVVKPLLVSTLGEKSGKGLKTCKSPGRKSKESSPKGRSSSASSPPKKEHHHHHHHSES
  PKAPVPLLPPLPPPPPEPESSEDPTSPPEPQDLSSSVCKEEKMPRGGSLESDGCPKEPAKTQPAVATAATAAEKY
  KHRGEGERKDIVSSSMPRPNREEPVDSRTPVTERVS

• Structural information:
  • Protein Domains: (90..16-)
    (/note="MBD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00338"-)
  • Interpro: IPR016177  IPR017353  IPR001739  
  • Prosite: PS50982
  • PDB: 1QK9 3C2I 5BT2 6C1Y 6OGJ 6OGK
  • PDBsum: 1QK9 3C2I 5BT2 6C1Y 6OGJ 6OGK
  • DIP: 39983
  • STRING: ENSP00000395535
• Other Databases: GeneCards:  MECP2  Malacards:  MECP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003682	chromatin binding	IBA	molecular function
GO:0000792	heterochromatin	IBA	cellular component
GO:0010385	double-stranded methylated DNA binding	IBA	molecular function
GO:0008327	methyl-CpG binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0003677	DNA binding	IBA	molecular function
GO:0000785	chromatin	IBA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0042025	host cell nucleus	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0010385	double-stranded methylated DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0003714	transcription corepressor activity	TAS	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	TAS	biological process
GO:0005634	nucleus	TAS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0010385	double-stranded methylated DNA binding	IMP	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000820	negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation	IEA	biological process
GO:1900114	positive regulation of histone H3-K9 trimethylation	IEA	biological process
GO:0060291	long-term synaptic potentiation	IEA	biological process
GO:0051151	negative regulation of smooth muscle cell differentiation	IEA	biological process
GO:0050905	neuromuscular process	IEA	biological process
GO:0050432	catecholamine secretion	IEA	biological process
GO:0048167	regulation of synaptic plasticity	IEA	biological process
GO:0046470	phosphatidylcholine metabolic process	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0042551	neuron maturation	IEA	biological process
GO:0040029	regulation of gene expression, epigenetic	IEA	biological process
GO:0035197	siRNA binding	IEA	molecular function
GO:0035176	social behavior	IEA	biological process
GO:0032048	cardiolipin metabolic process	IEA	biological process
GO:0031175	neuron projection development	IEA	biological process
GO:0021549	cerebellum development	IEA	biological process
GO:0019230	proprioception	IEA	biological process
GO:0016571	histone methylation	IEA	biological process
GO:0016358	dendrite development	IEA	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0009405	pathogenesis	IEA	biological process
GO:0008344	adult locomotory behavior	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0008211	glucocorticoid metabolic process	IEA	biological process
GO:0007616	long-term memory	IEA	biological process
GO:0007613	memory	IEA	biological process
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0006122	mitochondrial electron transport, ubiquinol to cytochrome c	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0003729	mRNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0002087	regulation of respiratory gaseous exchange by nervous system process	IEA	biological process
GO:0001964	startle response	IEA	biological process
GO:0001666	response to hypoxia	IEA	biological process
GO:0001662	behavioral fear response	IEA	biological process
GO:0000792	heterochromatin	IEA	cellular component
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0050884	neuromuscular process controlling posture	IEA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0033555	multicellular organismal response to stress	IEA	biological process
GO:0030182	neuron differentiation	IEA	biological process
GO:0021591	ventricular system development	IEA	biological process
GO:0019233	sensory perception of pain	IEA	biological process
GO:0016573	histone acetylation	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0010385	double-stranded methylated DNA binding	IEA	molecular function
GO:0008542	visual learning	IEA	biological process
GO:0008327	methyl-CpG binding	IEA	molecular function
GO:0008134	transcription factor binding	IEA	molecular function
GO:0008104	protein localization	IEA	biological process
GO:0007612	learning	IEA	biological process
GO:0007585	respiratory gaseous exchange by respiratory system	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0007416	synapse assembly	IEA	biological process
GO:0006576	cellular biogenic amine metabolic process	IEA	biological process
GO:0006541	glutamine metabolic process	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006349	regulation of gene expression by genetic imprinting	IEA	biological process
GO:0006342	chromatin silencing	IEA	biological process
GO:0006020	inositol metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0001976	nervous system process involved in regulation of systemic arterial blood pressure	IEA	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:1905643	positive regulation of DNA methylation	IDA	biological process
GO:0016525	negative regulation of angiogenesis	IMP	biological process
GO:0043537	negative regulation of blood vessel endothelial cell migration	IDA	biological process
GO:0010629	negative regulation of gene expression	IDA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0007052	mitotic spindle organization	IMP	biological process
GO:0008284	positive regulation of cell population proliferation	IMP	biological process
GO:0005813	centrosome	IMP	cellular component
GO:0010971	positive regulation of G2/M transition of mitotic cell cycle	IMP	biological process
GO:0090063	positive regulation of microtubule nucleation	IMP	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0000792	heterochromatin	IDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0047485	protein N-terminus binding	IPI	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0019904	protein domain specific binding	IPI	molecular function

Diseases

Associated diseases	References
Syndromic X-linked mental retardation	KEGG:H00658
Autism	KEGG:H02111
Rett syndrome	KEGG:H00440
MECP2-related severe neonatal encephalopathy	KEGG:H01211
Syndromic X-linked mental retardation	KEGG:H00658
Autism	KEGG:H02111
Rett syndrome	KEGG:H00440
MECP2-related severe neonatal encephalopathy	KEGG:H01211
Rett syndrome	PMID:16183801
Rett syndrome	PMID:11214906
autistic disorder	PMID:15211631
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)