U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

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

    Gene ID: 4204, updated on 10-Dec-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    MECP2provided by HGNC
    Official Full Name
    methyl-CpG binding protein 2provided by HGNC
    Primary source
    HGNC:HGNC:6990
    See related
    Ensembl:ENSG00000169057 MIM:300005; AllianceGenome:HGNC:6990
    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 cognitive disability in females. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
    Expression
    Ubiquitous expression in ovary (RPKM 10.4), brain (RPKM 8.2) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See MECP2 in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (154021573..154097717, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152295254..152371375, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153287024..153363174, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153277410-153278394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153278395-153279378 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21080 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21081 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153285318-153286287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30052 Neighboring gene interleukin 1 receptor associated kinase 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153297889-153298431 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153298432-153298975 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153298976-153299518 Neighboring gene microRNA 718 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chrX:153301355-153301920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153306499-153306999 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30053 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21083 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:153362776-153363014 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21085 Neighboring gene Sharpr-MPRA regulatory region 3572 Neighboring gene opsin locus control region Neighboring gene opsin 1, long wave sensitive Neighboring gene TEX28 pseudogene 2

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. The Odyssey of MeCP2 and parental imprinting. LaSalle JM. Epigenetics, 2007 Jan-Mar. PMID 17965611, Free PMC Article
    2. Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation. Venkateswaran S, et al. Dev Med Child Neurol, 2014 Jan. PMID 24328834
    3. Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes. Yasui DH, et al. Proc Natl Acad Sci U S A, 2007 Dec 4. PMID 18042715, Free PMC Article
    4. Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. Cuddapah VA, et al. J Med Genet, 2014 Mar. PMID 24399845, Free PMC Article
    5. Mutant astrocytes differentiated from Rett syndrome patients-specific iPSCs have adverse effects on wild-type neurons. Williams EC, et al. Hum Mol Genet, 2014 Jun 1. PMID 24419315, Free PMC Article

    See all (733) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mitochondrial dysfunction and increased reactive oxygen species production in MECP2 mutant astrocytes and their impact on neurons.
      Title: Mitochondrial dysfunction and increased reactive oxygen species production in MECP2 mutant astrocytes and their impact on neurons.
    2. Methyl-CpG-binding 2 K271 lactylation-mediated M2 macrophage polarization inhibits atherosclerosis.
      Title: Methyl-CpG-binding 2 K271 lactylation-mediated M2 macrophage polarization inhibits atherosclerosis.
    3. MECP2 directly interacts with RNA polymerase II to modulate transcription in human neurons.
      Title: MECP2 directly interacts with RNA polymerase II to modulate transcription in human neurons.
    4. Methyl-CpG-binding protein 2 regulates CYP27A1-induced myometrial contraction during preterm labor.
      Title: Methyl-CpG-binding protein 2 regulates CYP27A1-induced myometrial contraction during preterm labor.
    5. CRL4[DCAF13] E3 ubiquitin ligase targets MeCP2 for degradation to prevent DNA hypermethylation and ensure normal transcription in growing oocytes.
      Title: CRL4(DCAF13) E3 ubiquitin ligase targets MeCP2 for degradation to prevent DNA hypermethylation and ensure normal transcription in growing oocytes.
    6. [Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome].
      Title: [Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome].
    7. Genetic analysis of a pedigree with MECP2 duplication syndrome in China.
      Title: Genetic analysis of a pedigree with MECP2 duplication syndrome in China.
    8. A proteomic approach to investigate the role of the MECP2 gene mutation in Rett syndrome redox regulatory pathways.
      Title: A proteomic approach to investigate the role of the MECP2 gene mutation in Rett syndrome redox regulatory pathways.
    9. Systemic proteome phenotypes reveal defective metabolic flexibility in Mecp2 mutants.
      Title: Systemic proteome phenotypes reveal defective metabolic flexibility in Mecp2 mutants.
    10. Analysis of the interplay between MeCP2 and histone H1 during in vitro differentiation of human ReNCell neural progenitor cells.
      Title: Analysis of the interplay between MeCP2 and histone H1 during in vitro differentiation of human ReNCell neural progenitor cells.
    Submit: New GeneRIF Correction See all GeneRIFs (549)

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-02-22)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-02-22)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

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

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

    Go to the top of the page Help

    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

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • DKFZp686A24160

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables RNA binding HDA PubMed 
    enables chromatin DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables double-stranded methylated DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables double-stranded methylated DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables four-way junction DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone deacetylase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone reader activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables mRNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables methyl-CpG binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables molecular adaptor activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables molecular condensate scaffold activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables nucleic acid binding EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables promoter-specific chromatin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein domain specific binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables siRNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transcription corepressor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables unmethylated CpG binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in adult locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in behavioral fear response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in biogenic amine metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cardiolipin metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in catecholamine secretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to isoquinoline alkaloid IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to potassium ion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cerebellum development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cerebral cortex development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in dendrite development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in excitatory postsynaptic potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within genomic imprinting IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in glial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glucocorticoid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glutamine metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heterochromatin formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in hippocampus development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in inositol metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in long-term memory IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in long-term synaptic potentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lung alveolus development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of astrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of blood vessel endothelial cell migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of dendrite extension IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of dendritic spine development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of gene expression via chromosomal CpG island methylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of locomotion involved in locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of primary miRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of respiratory gaseous exchange IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of smooth muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nervous system process involved in regulation of systemic arterial blood pressure IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuron maturation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in olfactory bulb development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in oligodendrocyte development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phosphatidylcholine metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of anterograde dense core granule transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of branching morphogenesis of a nerve IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of dendrite extension IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of dendritic spine development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of glial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of microtubule nucleation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of retrograde dense core granule transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of synaptic plasticity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in principal sensory nucleus of trigeminal nerve development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proprioception IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein localization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of action potential firing threshold IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of respiratory gaseous exchange by nervous system process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of synapse organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in respiratory gaseous exchange by respiratory system IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to alcohol IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to cocaine IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to estradiol IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to ionizing radiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to lead ion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to other organism IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sensory perception of pain IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in social behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spinal cord development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in startle response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in striatum development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in synapse assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in thalamus development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in trans-synaptic signaling by BDNF IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ventricular cardiac muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ventricular system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in visual learning IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in centrosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular space HDA PubMed 
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in heterochromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in heterochromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of protein-containing complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    methyl-CpG-binding protein 2
    Names
    meCp-2 protein

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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_007107.3 RefSeqGene

      Range
      44387..120531
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_764

    mRNA and Protein(s)

    1. NM_001110792.2 → NP_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)
      AF030876, BC011612, BX538060, U52112
      Consensus CDS
      CCDS48193.1
      UniProtKB/TrEMBL
      A0A140VKC4, C6KG45, D0UU70, D5L9I5, D9ZNA4, E9LUH3
      Related
      ENSP00000395535.2, ENST00000453960.7
      Conserved Domains (1) summary
      smart00391
      Location:104 → 181
      MBD; Methyl-CpG binding domain

    2. NM_001316337.2 → NP_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. Variants 3-7 all encode the same isoform (3).
      Source sequence(s)
      AB209464, AF030876, BC011612, BI767019, U52112
      UniProtKB/TrEMBL
      D5L9I5
      Conserved Domains (1) summary
      smart00391
      Location:1 → 76
      MBD; Methyl-CpG binding domain

    3. NM_001369391.2 → NP_001356320.1  methyl-CpG-binding protein 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) includes exon 2 and some additional exons, 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. Variants 3-7 all encode the same isoform (3).
      Source sequence(s)
      AC244097, AF030876, U52112
      UniProtKB/TrEMBL
      D5L9I5
      Conserved Domains (1) summary
      smart00391
      Location:1 → 76
      MBD; Methyl-CpG binding domain

    4. NM_001369392.2 → NP_001356321.1  methyl-CpG-binding protein 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) 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. Variants 3-7 all encode the same isoform (3).
      Source sequence(s)
      AC244097, AF030876, U52112
      UniProtKB/TrEMBL
      D5L9I5
      Conserved Domains (1) summary
      smart00391
      Location:1 → 76
      MBD; Methyl-CpG binding domain

    5. NM_001369393.2 → NP_001356322.1  methyl-CpG-binding protein 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks exon 2 and contains 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. Variants 3-7 all encode the same isoform (3).
      Source sequence(s)
      AC244097, AF030876, U52112
      UniProtKB/TrEMBL
      D5L9I5
      Conserved Domains (1) summary
      smart00391
      Location:1 → 76
      MBD; Methyl-CpG binding domain

    6. NM_001369394.2 → NP_001356323.1  methyl-CpG-binding protein 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR and coding sequence, compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1. Variants 3-7 all encode the same isoform (3).
      Source sequence(s)
      AC244097, AF030876, U52112
      UniProtKB/TrEMBL
      D5L9I5
      Conserved Domains (1) summary
      smart00391
      Location:1 → 76
      MBD; Methyl-CpG binding domain

    7. NM_001386137.1 → NP_001373066.1  methyl-CpG-binding protein 2 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC244097, AF030876, U52112

    8. NM_001386138.1 → NP_001373067.1  methyl-CpG-binding protein 2 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC244097, AF030876, U52112

    9. NM_001386139.1 → NP_001373068.1  methyl-CpG-binding protein 2 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC244097, AF030876, U52112

    10. NM_004992.4 → NP_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)
      AC244097, AF030876, U52112
      Consensus CDS
      CCDS14741.1
      UniProtKB/Swiss-Prot
      O15233, P51608, Q6QHH9, Q7Z384
      UniProtKB/TrEMBL
      C6KG45, D0UU70, D3YJ43, D5L9I5, D9ZNA4, E9LUH3
      Related
      ENSP00000301948.6, ENST00000303391.11
      Conserved Domains (1) summary
      smart00391
      Location:92 → 169
      MBD; Methyl-CpG binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      154021573..154097717 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442116.1 → XP_047298072.1  methyl-CpG-binding protein 2 isoform X1

      UniProtKB/Swiss-Prot
      O15233, P51608, Q6QHH9, Q7Z384
      UniProtKB/TrEMBL
      C6KG45, D0UU70, D3YJ43, D5L9I5, D9ZNA4, E9LUH3
      Related
      ENSP00000486089.2, ENST00000630151.3

    2. XM_047442115.1 → XP_047298071.1  methyl-CpG-binding protein 2 isoform X1

      UniProtKB/Swiss-Prot
      O15233, P51608, Q6QHH9, Q7Z384
      UniProtKB/TrEMBL
      C6KG45, D0UU70, D3YJ43, D5L9I5, D9ZNA4, E9LUH3

    3. XM_047442120.1 → XP_047298076.1  methyl-CpG-binding protein 2 isoform X2

      UniProtKB/TrEMBL
      D5L9I5

    4. XM_047442119.1 → XP_047298075.1  methyl-CpG-binding protein 2 isoform X2

      UniProtKB/TrEMBL
      D5L9I5

    5. XM_047442118.1 → XP_047298074.1  methyl-CpG-binding protein 2 isoform X2

      UniProtKB/TrEMBL
      D5L9I5

    6. XM_024452383.2 → XP_024308151.1  methyl-CpG-binding protein 2 isoform X2

      UniProtKB/TrEMBL
      D5L9I5
      Conserved Domains (1) summary
      smart00391
      Location:1 → 76
      MBD; Methyl-CpG binding domain

    7. XM_047442117.1 → XP_047298073.1  methyl-CpG-binding protein 2 isoform X2

      UniProtKB/TrEMBL
      D5L9I5

    8. XM_047442121.1 → XP_047298077.1  methyl-CpG-binding protein 2 isoform X2

      UniProtKB/TrEMBL
      D5L9I5

    9. XM_047442122.1 → XP_047298078.1  methyl-CpG-binding protein 2 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      152295254..152371375 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327092.1 → XP_054183067.1  methyl-CpG-binding protein 2 isoform X1

      UniProtKB/Swiss-Prot
      O15233, P51608, Q6QHH9, Q7Z384
      UniProtKB/TrEMBL
      C6KG45, D0UU70, D3YJ43, D5L9I5, D9ZNA4, E9LUH3

    2. XM_054327091.1 → XP_054183066.1  methyl-CpG-binding protein 2 isoform X1

      UniProtKB/Swiss-Prot
      O15233, P51608, Q6QHH9, Q7Z384
      UniProtKB/TrEMBL
      C6KG45, D0UU70, D3YJ43, D5L9I5, D9ZNA4, E9LUH3

    3. XM_054327097.1 → XP_054183072.1  methyl-CpG-binding protein 2 isoform X2

      UniProtKB/TrEMBL
      D5L9I5

    4. XM_054327096.1 → XP_054183071.1  methyl-CpG-binding protein 2 isoform X2

      UniProtKB/TrEMBL
      D5L9I5

    5. XM_054327095.1 → XP_054183070.1  methyl-CpG-binding protein 2 isoform X2

      UniProtKB/TrEMBL
      D5L9I5

    6. XM_054327093.1 → XP_054183068.1  methyl-CpG-binding protein 2 isoform X2

      UniProtKB/TrEMBL
      D5L9I5

    7. XM_054327094.1 → XP_054183069.1  methyl-CpG-binding protein 2 isoform X2

      UniProtKB/TrEMBL
      D5L9I5

    8. XM_054327098.1 → XP_054183073.1  methyl-CpG-binding protein 2 isoform X2

      UniProtKB/TrEMBL
      D5L9I5

    9. XM_054327099.1 → XP_054183074.1  methyl-CpG-binding protein 2 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P51608.1 GenPept UniProtKB/Swiss-Prot:P51608

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous