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

Gene ID: 4204, updated on 3-Nov-2024

Summary

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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
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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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

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Autism, susceptibility to, X-linked 3
MedGen: C1845336 OMIM: 300496 GeneReviews: MECP2 Disorders
not available
Rett syndrome
MedGen: C0035372 OMIM: 312750 GeneReviews: MECP2 Disorders
not available
Severe neonatal-onset encephalopathy with microcephaly
MedGen: C1968556 OMIM: 300673 GeneReviews: MECP2 Disorders
not available
Syndromic X-linked intellectual disability Lubs type
MedGen: C1846058 OMIM: 300260 GeneReviews: MECP2 Duplication Syndrome
not available
X-linked intellectual disability-psychosis-macroorchidism syndrome
MedGen: C0796222 OMIM: 300055 GeneReviews: MECP2 Disorders
not available

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

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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

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Preferred Names
methyl-CpG-binding protein 2
Names
meCp-2 protein

NCBI Reference Sequences (RefSeq)

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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
    D3YJ43
    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
    D3YJ43

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

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

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

  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

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

  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
    D3YJ43

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

    UniProtKB/Swiss-Prot
    O15233, P51608, Q6QHH9, Q7Z384
    UniProtKB/TrEMBL
    D3YJ43

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

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

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

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

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

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

  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

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