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

Gene ID: 4204, updated on 6-Jul-2014
Official Symbol
MECP2provided by HGNC
Official Full Name
methyl CpG binding protein 2provided by HGNC
Primary source
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. [provided by RefSeq, Jul 2009]
See MECP2 in Epigenomics, MapViewer
Location:
Xq28
Exon count :
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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)

ISCA Genome Curation Page
Triplosensitivity

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

ISCA Genome Curation Page

NHGRI GWAS Catalog

Description
Common variants on Xq28 conferring risk of schizophrenia in han chinese.
NHGRI GWA Catalog
Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.
NHGRI GWA Catalog
  • 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding TAS
Traceable Author Statement
more info
PubMed 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
double-stranded methylated DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
mRNA binding IEA
Inferred from Electronic Annotation
more info
 
methyl-CpG binding IEA
Inferred from Electronic Annotation
more info
 
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
 
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 
sequence-specific DNA binding transcription factor activity IEA
Inferred from Electronic Annotation
more info
 
siRNA binding IEA
Inferred from Electronic Annotation
more info
 
transcription corepressor activity TAS
Traceable Author Statement
more info
PubMed 
transcription factor 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
 
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
 
embryo development 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
 
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
 
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 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 TAS
Traceable Author Statement
more info
PubMed 
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 excitatory postsynaptic membrane potential 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 hypoxia IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
 
heterochromatin IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
methyl-CpG-binding protein 2
Names
methyl-CpG-binding protein 2
meCp-2 protein

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 

    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 proteins identical to 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
    Q59FJ6
    Related
    ENSP00000395535, OTTHUMP00000064436, ENST00000453960, OTTHUMT00000061145
    Conserved Domains (1) summary
    cd01396
    Location:106180
    Blast Score: 237
    MeCP2_MBD; MeCP2, MBD1, MBD2, MBD3, and MBD4 are members of a protein family that share the methyl-CpG-binding domain (MBD). The MBD, consists of about 70 residues and is defined as the minimal region required for binding to methylated DNA by a methyl-CpG-binding ...
  2. NM_004992.3NP_004983.1  methyl-CpG-binding protein 2 isoform 1

    See proteins identical to 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/TrEMBL
    D3YJ43
    UniProtKB/Swiss-Prot
    P51608
    UniProtKB/TrEMBL
    Q59FJ6
    Related
    ENSP00000301948, OTTHUMP00000026021, ENST00000303391, OTTHUMT00000061144
    Conserved Domains (1) summary
    cd01396
    Location:94168
    Blast Score: 239
    MeCP2_MBD; MeCP2, MBD1, MBD2, MBD3, and MBD4 are members of a protein family that share the methyl-CpG-binding domain (MBD). The MBD, consists of about 70 residues and is defined as the minimal region required for binding to methylated DNA by a methyl-CpG-binding ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

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

mRNA and Protein(s)

  1. XM_005274682.2XP_005274739.1  

    See proteins identical to XP_005274739.1

    Conserved Domains (1) summary
    cd01396
    Location:175
    Blast Score: 232
    MeCP2_MBD; MeCP2, MBD1, MBD2, MBD3, and MBD4 are members of a protein family that share the methyl-CpG-binding domain (MBD). The MBD, consists of about 70 residues and is defined as the minimal region required for binding to methylated DNA by a methyl-CpG-binding ...
  2. XM_005274681.2XP_005274738.1  

    See proteins identical to XP_005274738.1

    UniProtKB/TrEMBL
    D3YJ43
    UniProtKB/Swiss-Prot
    P51608
    Conserved Domains (1) summary
    cd01396
    Location:94168
    Blast Score: 239
    MeCP2_MBD; MeCP2, MBD1, MBD2, MBD3, and MBD4 are members of a protein family that share the methyl-CpG-binding domain (MBD). The MBD, consists of about 70 residues and is defined as the minimal region required for binding to methylated DNA by a methyl-CpG-binding ...
  3. XM_005274683.2XP_005274740.1  

    See proteins identical to XP_005274740.1

    Conserved Domains (1) summary
    cd01396
    Location:175
    Blast Score: 232
    MeCP2_MBD; MeCP2, MBD1, MBD2, MBD3, and MBD4 are members of a protein family that share the methyl-CpG-binding domain (MBD). The MBD, consists of about 70 residues and is defined as the minimal region required for binding to methylated DNA by a methyl-CpG-binding ...
  4. XM_006724819.1XP_006724882.1  

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    141928231..142007659
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

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

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