Version 5.4
Homo sapiens Gene: MECP2
Summary
InnateDB Gene IDBG-90808.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MECP2
Gene Name methyl CpG binding protein 2 (Rett syndrome)
Synonyms AUTSX3; MRX16; MRX79; MRXS13; MRXSL; PPMX; RS; RTS; RTT
Species Homo sapiens
Ensembl Gene ENSG00000169057
Encoded Proteins
IDBP-90812
methyl CpG binding protein 2 (Rett syndrome)
IDBP-90814
methyl CpG binding protein 2 (Rett syndrome)
IDBP-294301
methyl CpG binding protein 2 (Rett syndrome)
IDBP-383298
methyl CpG binding protein 2 (Rett syndrome)
IDBP-383305
methyl CpG binding protein 2 (Rett syndrome)
IDBP-813583
methyl CpG binding protein 2
IDBP-813585
methyl CpG binding protein 2
IDBP-813589
methyl CpG binding protein 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. [provided by RefSeq, Jul 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome X:154021573-154097755
Strand Reverse strand
Band q28
Transcripts
ENST00000303391 ENSP00000301948
ENST00000369957 ENSP00000358973
ENST00000407218 ENSP00000384865
ENST00000453960 ENSP00000395535
ENST00000415944 ENSP00000416267
ENST00000486506
ENST00000496908
ENST00000488293
ENST00000463644
ENST00000460227
ENST00000481807
ENST00000622433 ENSP00000484470
ENST00000611468 ENSP00000479736
ENST00000619732 ENSP00000480973
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 65 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.
Experimentally validated
Total 70 [view]
Protein-Protein 58 [view]
Protein-DNA 10 [view]
Protein-RNA 0
DNA-DNA 2 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 10 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003714 transcription corepressor activity
GO:0003729 mRNA binding
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0008327 methyl-CpG binding
GO:0010385 double-stranded methylated DNA binding
GO:0019904 protein domain specific binding
GO:0035197 siRNA binding
GO:0044822 poly(A) RNA binding
GO:0047485 protein N-terminus binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001662 behavioral fear response
GO:0001666 response to hypoxia
GO:0001964 startle response
GO:0001976 neurological system process involved in regulation of systemic arterial blood pressure
GO:0002087 regulation of respiratory gaseous exchange by neurological system process
GO:0006020 inositol metabolic process
GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c
GO:0006342 chromatin silencing
GO:0006349 regulation of gene expression by genetic imprinting
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006541 glutamine metabolic process
GO:0006576 cellular biogenic amine metabolic process
GO:0007268 synaptic transmission
GO:0007416 synapse assembly
GO:0007420 brain development
GO:0007585 respiratory gaseous exchange
GO:0007612 learning
GO:0007613 memory
GO:0007616 long-term memory
GO:0008104 protein localization
GO:0008211 glucocorticoid metabolic process
GO:0008284 positive regulation of cell proliferation
GO:0008344 adult locomotory behavior
GO:0008542 visual learning
GO:0009405 pathogenesis
GO:0009791 post-embryonic development
GO:0010468 regulation of gene expression
GO:0016358 dendrite development
GO:0016571 histone methylation
GO:0016573 histone acetylation
GO:0019230 proprioception
GO:0019233 sensory perception of pain
GO:0021549 cerebellum development
GO:0021591 ventricular system development
GO:0030182 neuron differentiation
GO:0031061 negative regulation of histone methylation
GO:0031175 neuron projection development
GO:0032048 cardiolipin metabolic process
GO:0033555 multicellular organismal response to stress
GO:0035067 negative regulation of histone acetylation
GO:0035176 social behavior
GO:0040029 regulation of gene expression, epigenetic
GO:0042551 neuron maturation
GO:0043524 negative regulation of neuron apoptotic process
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0046470 phosphatidylcholine metabolic process
GO:0048167 regulation of synaptic plasticity
GO:0050432 catecholamine secretion
GO:0050884 neuromuscular process controlling posture
GO:0050905 neuromuscular process
GO:0051965 positive regulation of synapse assembly
GO:0060079 regulation of excitatory postsynaptic membrane potential
GO:0060291 long-term synaptic potentiation
Cellular Component
GO:0000792 heterochromatin
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000031393
View Gene Order
ENSBTAG00000047855
Not yet available
Pathways
NETPATH
REACTOME
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_001110792 NM_004992 XM_005274681 XM_005274682 XM_005274683 XM_006724819
HUGO
OMIM
CCDS CCDS14741 CCDS48193
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca