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    MECP2 methyl-CpG binding protein 2 [ Homo sapiens (human) ]

    Gene ID: 4204, updated on 20-Aug-2016
    Official Symbol
    MECP2provided by HGNC
    Official Full Name
    methyl-CpG binding protein 2provided by HGNC
    Primary source
    HGNC:HGNC:6990
    See related
    Ensembl:ENSG00000169057 HPRD:02050; MIM:300005; Vega:OTTHUMG00000024229
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RS; RTS; RTT; PPMX; MRX16; MRX79; MRXSL; AUTSX3; MRXS13
    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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
    Orthologs
    Location:
    Xq28
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (154021800..154097731, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153287025..153363188, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene interleukin 1 receptor associated kinase 1 Neighboring gene microRNA 718 Neighboring gene opsin 1 (cone pigments), long-wave-sensitive Neighboring gene testis expressed 28 pseudogene 2

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-05)

    ClinGen Genome Curation Page
    Triplosensitivity

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-05)

    ClinGen Genome Curation Page

    NHGRI GWAS Catalog

    Description
    Common variants on Xq28 conferring risk of schizophrenia in Han Chinese.
    NHGRI GWA Catalog
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    NHGRI GWA Catalog
    Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef MECP2 mRNA is selectively retained in HIV-1 Nef-expressing cellular exosomes, and eight miRNAs (miR-19a, miR-29b, miR-34a*, miR-146b, miR-181a, miR181c, miR-195, and let-7c) which target MECP2 mRNA are selectively secreted in exosomes from these cells PubMed

    Go to the HIV-1, Human Interaction Database

    • SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
      SIDS Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp686A24160

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    chromatin DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    double-stranded methylated DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    four-way junction DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    histone deacetylase binding IEA
    Inferred from Electronic Annotation
    more info
     
    mRNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    methyl-CpG binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    poly(A) RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein N-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    siRNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcription corepressor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription factor activity, sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    unmethylated CpG binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    adult locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    behavioral fear response IEA
    Inferred from Electronic Annotation
    more info
     
    cardiolipin metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    catecholamine secretion IEA
    Inferred from Electronic Annotation
    more info
     
    cellular biogenic amine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    cerebellum development IEA
    Inferred from Electronic Annotation
    more info
     
    chromatin silencing IEA
    Inferred from Electronic Annotation
    more info
     
    dendrite development IEA
    Inferred from Electronic Annotation
    more info
     
    excitatory postsynaptic potential IEA
    Inferred from Electronic Annotation
    more info
     
    glucocorticoid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    glutamine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    heart development IEA
    Inferred from Electronic Annotation
    more info
     
    histone acetylation IEA
    Inferred from Electronic Annotation
    more info
     
    histone methylation IEA
    Inferred from Electronic Annotation
    more info
     
    inositol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    locomotory behavior IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    long-term memory IEA
    Inferred from Electronic Annotation
    more info
     
    long-term synaptic potentiation IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial electron transport, ubiquinol to cytochrome c IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of astrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of histone acetylation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of histone methylation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neurological system process involved in regulation of systemic arterial blood pressure IEA
    Inferred from Electronic Annotation
    more info
     
    neuron maturation IEA
    Inferred from Electronic Annotation
    more info
     
    pathogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylcholine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of synapse assembly IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    proprioception IEA
    Inferred from Electronic Annotation
    more info
     
    protein localization IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of DNA methylation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of gene expression by genetic imprinting IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of respiratory gaseous exchange by neurological system process IEA
    Inferred from Electronic Annotation
    more info
     
    respiratory gaseous exchange IEA
    Inferred from Electronic Annotation
    more info
     
    response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    response to ionizing radiation IEA
    Inferred from Electronic Annotation
    more info
     
    response to lead ion IEA
    Inferred from Electronic Annotation
    more info
     
    response to radiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    sensory perception of pain IEA
    Inferred from Electronic Annotation
    more info
     
    social behavior IEA
    Inferred from Electronic Annotation
    more info
     
    startle response IEA
    Inferred from Electronic Annotation
    more info
     
    synapse assembly IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    ventricular system development IEA
    Inferred from Electronic Annotation
    more info
     
    visual learning IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    heterochromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear chromatin IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    postsynapse IEA
    Inferred from Electronic Annotation
    more info
     
    protein complex IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    methyl-CpG-binding protein 2
    Names
    meCp-2 protein
    methyl CpG binding protein 2
    testis tissue sperm-binding protein Li 41a

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007107.2 RefSeqGene

      Range
      44391..120315
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001110792.1NP_001104262.1  methyl-CpG-binding protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001104262.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also known as MECP2B, lacks exon 2. Translation is reported to initiate in the first exon resulting in a protein isoform (2) with a distinct N-terminus. This transcript is reported to be abundant in the central nervous system (PMID: 15034579, 17171659).
      Source sequence(s)
      AB209464, BC011612, BX538060
      Consensus CDS
      CCDS48193.1
      UniProtKB/Swiss-Prot
      P51608
      UniProtKB/TrEMBL
      A0A140VKC4, Q59FJ6
      Related
      ENSP00000395535, OTTHUMP00000064436, ENST00000453960, OTTHUMT00000061145
      Conserved Domains (1) summary
      smart00391
      Location:104181
      MBD; Methyl-CpG binding domain
    2. NM_001316337.1NP_001303266.1  methyl-CpG-binding protein 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) includes exon 2 and an additional exon, resulting in the use of a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AB209464, AF030876, BC011612, BI767019
      UniProtKB/Swiss-Prot
      P51608
      UniProtKB/TrEMBL
      Q59FJ6
      Conserved Domains (1) summary
      smart00391
      Location:176
      MBD; Methyl-CpG binding domain
    3. NM_004992.3NP_004983.1  methyl-CpG-binding protein 2 isoform 1

      See identical proteins and their annotated locations for NP_004983.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), also known as MECP2A, includes exon 2. Translation is reported to initiate in exon 2 resulting in a protein isoform (1) with a distinct N-terminus.
      Source sequence(s)
      AB209464, AC244097, AF158180
      Consensus CDS
      CCDS14741.1
      UniProtKB/Swiss-Prot
      P51608
      UniProtKB/TrEMBL
      D3YJ43, Q59FJ6
      Related
      ENSP00000301948, OTTHUMP00000026021, ENST00000303391, OTTHUMT00000061144
      Conserved Domains (1) summary
      smart00391
      Location:92169
      MBD; Methyl-CpG binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      154021800..154097731 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005274682.4XP_005274739.1  

      See identical proteins and their annotated locations for XP_005274739.1

      Conserved Domains (1) summary
      smart00391
      Location:176
      MBD; Methyl-CpG binding domain
    2. XM_017029533.1XP_016885022.1  

      Conserved Domains (1) summary
      smart00391
      Location:176
      MBD; Methyl-CpG binding domain
    3. XM_011531166.2XP_011529468.1  

      See identical proteins and their annotated locations for XP_011529468.1

      Conserved Domains (1) summary
      smart00391
      Location:176
      MBD; Methyl-CpG binding domain
    4. XM_006724819.3XP_006724882.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      153161670..153237718 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)