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Aliases for MECP2 Gene

Aliases for MECP2 Gene

  • Methyl CpG Binding Protein 2 2 3
  • MeCp-2 Protein 3 4
  • AUTSX3 3 6
  • MRXS13 3 6
  • MRXSL 3 6
  • MRX16 3 6
  • MRX79 3 6
  • PPMX 3 6
  • RTT 3 6
  • Methyl CpG Binding Protein 2 (Rett Syndrome) 2
  • Mental Retardation, X-Linked 16 2
  • Mental Retardation, X-Linked 79 2
  • Methyl-CpG-Binding Protein 2 3
  • Rett Syndrome 2
  • MeCp2 4
  • RTS 3
  • RS 3

External Ids for MECP2 Gene

Previous HGNC Symbols for MECP2 Gene

  • RTT
  • MRX16
  • MRX79

Previous GeneCards Identifiers for MECP2 Gene

  • GC0XM147424
  • GC0XM149742
  • GC0XM150872
  • GC0XM151755
  • GC0XM152808
  • GC0XM152940
  • GC0XM153287
  • GC0XM141928

Summaries for MECP2 Gene

Entrez Gene Summary for MECP2 Gene

  • 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]

GeneCards Summary for MECP2 Gene

MECP2 (Methyl CpG Binding Protein 2) is a Protein Coding gene. Diseases associated with MECP2 include rett syndrome and mental retardation, x-linked, syndromic 13. Among its related pathways are SIDS Susceptibility Pathways and Chromatin Regulation / Acetylation. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription factor binding. An important paralog of this gene is MBD4.

UniProtKB/Swiss-Prot for MECP2 Gene

  • Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A. Binds both 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC)-containing DNA, with a preference for 5-methylcytosine (5mC).

Gene Wiki entry for MECP2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MECP2 Gene

Genomics for MECP2 Gene

Regulatory Elements for MECP2 Gene

Genomic Location for MECP2 Gene

Start:
154,021,573 bp from pter
End:
154,097,755 bp from pter
Size:
76,183 bases
Orientation:
Minus strand

Genomic View for MECP2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MECP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MECP2 Gene

Proteins for MECP2 Gene

  • Protein details for MECP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51608-MECP2_HUMAN
    Recommended name:
    Methyl-CpG-binding protein 2
    Protein Accession:
    P51608
    Secondary Accessions:
    • O15233
    • Q6QHH9
    • Q7Z384

    Protein attributes for MECP2 Gene

    Size:
    486 amino acids
    Molecular mass:
    52441 Da
    Quaternary structure:
    • Interacts with FNBP3 (By similarity). Interacts with CDKL5 (PubMed:15917271). Interacts with ATRX; MECP2 recruits ATRX to pericentric heterochromatin in neuronal cells (By similarity). Interacts with NCOR2 (By similarity).
    SequenceCaution:
    • Sequence=CAD97991.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MECP2 Gene

    Alternative splice isoforms for MECP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MECP2 Gene

Proteomics data for MECP2 Gene at MOPED

Post-translational modifications for MECP2 Gene

  • Phosphorylated on Ser-423 in brain upon synaptic activity, which attenuates its repressor activity and seems to regulate dendritic growth and spine maturation.
  • Ubiquitination at Lys130
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MECP2 (MeCP2)

No data available for DME Specific Peptides for MECP2 Gene

Domains for MECP2 Gene

Protein Domains for MECP2 Gene

Graphical View of Domain Structure for InterPro Entry

P51608

UniProtKB/Swiss-Prot:

MECP2_HUMAN :
  • P51608
Domain:
  • Contains 2 A.T hook DNA-binding domains.
  • Contains 1 MBD (methyl-CpG-binding) domain.
genes like me logo Genes that share domains with MECP2: view

No data available for Gene Families for MECP2 Gene

Function for MECP2 Gene

Molecular function for MECP2 Gene

GENATLAS Biochemistry:
methyl CpG-binding protein 2,abundant chromosomal protein,murine Mecp2 homolog,that selectivity binds 5methyl cytosine residues in symmetrically positioned GpG dinucleotides,preferentially in the promoter regions of genes subject to transcriptional silencing after DNA methylation,interacting with histone deacetylase and the transcriptional corepressor SIN3A,involved in the regulation of gene expression
UniProtKB/Swiss-Prot Function:
Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A. Binds both 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC)-containing DNA, with a preference for 5-methylcytosine (5mC).

Gene Ontology (GO) - Molecular Function for MECP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS 9620804
GO:0003682 chromatin binding IEA --
GO:0003700 sequence-specific DNA binding transcription factor activity IEA --
GO:0003714 transcription corepressor activity TAS 10773092
GO:0003729 mRNA binding IEA --
genes like me logo Genes that share ontologies with MECP2: view
genes like me logo Genes that share phenotypes with MECP2: view

Animal Models for MECP2 Gene

MGI Knock Outs for MECP2:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MECP2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for MECP2 Gene

Localization for MECP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MECP2 Gene

Nucleus. Note=Colocalized with methyl-CpG in the genome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MECP2 Gene COMPARTMENTS Subcellular localization image for MECP2 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for MECP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000792 heterochromatin IDA 11441023
GO:0005615 extracellular space IDA 22664934
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm --
genes like me logo Genes that share ontologies with MECP2: view

Pathways for MECP2 Gene

genes like me logo Genes that share pathways with MECP2: view

Pathways by source for MECP2 Gene

1 Qiagen pathway for MECP2 Gene
2 Cell Signaling Technology pathways for MECP2 Gene
1 BioSystems pathway for MECP2 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for MECP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001662 behavioral fear response IEA --
GO:0001666 response to hypoxia IEA --
GO:0001964 startle response IEA --
GO:0001976 neurological system process involved in regulation of systemic arterial blood pressure IEA --
genes like me logo Genes that share ontologies with MECP2: view

Compounds for MECP2 Gene

(18) Novoseek inferred chemical compound relationships for MECP2 Gene

Compound -log(P) Hits PubMed IDs
5-aza-2deoxycytidine 64.5 2
cytosine 53.2 3
5-methylcytosine 41.6 3
hpaii 17.5 2
azathioprine 13.9 1
genes like me logo Genes that share compounds with MECP2: view

Transcripts for MECP2 Gene

Unigene Clusters for MECP2 Gene

Methyl CpG binding protein 2 (Rett syndrome):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MECP2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MECP2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6
SP1: - -
SP2: - - -
SP3:
SP4:

Relevant External Links for MECP2 Gene

GeneLoc Exon Structure for
MECP2
ECgene alternative splicing isoforms for
MECP2

Expression for MECP2 Gene

mRNA expression in normal human tissues for MECP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for MECP2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.1) and CD8 Tcells (10.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MECP2 Gene

SOURCE GeneReport for Unigene cluster for MECP2 Gene Hs.200716

mRNA Expression by UniProt/SwissProt for MECP2 Gene

P51608-MECP2_HUMAN
Tissue specificity: Present in all adult somatic tissues tested
genes like me logo Genes that share expressions with MECP2: view

Expression partners for MECP2 Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for MECP2 Gene

Orthologs for MECP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MECP2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MECP2 35
  • 92.04 (n)
  • 95.47 (a)
MECP2 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MECP2 35
  • 93.55 (n)
  • 96.5 (a)
MECP2 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mecp2 35
  • 90.15 (n)
  • 94.83 (a)
Mecp2 16
Mecp2 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MECP2 35
  • 99.72 (n)
  • 100 (a)
MECP2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mecp2 35
  • 89.26 (n)
  • 95.45 (a)
oppossum
(Monodelphis domestica)
Mammalia MECP2 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MECP2 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MECP2 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mecp2 35
  • 65.86 (n)
  • 69.32 (a)
African clawed frog
(Xenopus laevis)
Amphibia MECP2 35
zebrafish
(Danio rerio)
Actinopterygii mecp2 35
  • 62.35 (n)
  • 67.48 (a)
wufk96a04 35
mecp2 36
  • 47 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 12 (a)
OneToMany
Species with no ortholog for MECP2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MECP2 Gene

ENSEMBL:
Gene Tree for MECP2 (if available)
TreeFam:
Gene Tree for MECP2 (if available)

Paralogs for MECP2 Gene

Paralogs for MECP2 Gene

genes like me logo Genes that share paralogs with MECP2: view

Variants for MECP2 Gene

Sequence variations from dbSNP and Humsavar for MECP2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs17435 -- 154,046,529(+) AGACA(A/T)CCAAC intron-variant
rs909131 -- 154,042,776(+) AGATC(A/G)TGCCA intron-variant
rs1042870 Benign 154,031,051(-) GAGGC(C/T)GACCC reference, synonymous-codon
rs1042873 -- 154,030,672(-) CACCC(C/T)TGCCC reference, synonymous-codon
rs1616369 -- 154,061,013(+) gggcc(A/G)tggag intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for MECP2 Gene

Variant ID Type Subtype PubMed ID
esv33199 CNV Gain+Loss 17666407
esv33784 CNV Gain+Loss 17666407
nsv517994 CNV Gain 19592680
nsv519042 CNV Gain 19592680

Relevant External Links for MECP2 Gene

HapMap Linkage Disequilibrium report
MECP2
Human Gene Mutation Database (HGMD)
MECP2
Locus Specific Mutation Databases (LSDB)
MECP2

PCR Panel Products

  • Copy Number PCR Panels: for MECP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MECP2 Gene

Disorders for MECP2 Gene

(6) OMIM Diseases for MECP2 Gene (300005)

UniProtKB/Swiss-Prot

MECP2_HUMAN
  • Angelman syndrome (AS) [MIM:105830]: A neurodevelopmental disorder characterized by severe motor and intellectual retardation, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, open-mouthed expression revealing the tongue. {ECO:0000269 PubMed:11283202}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • Mental retardation, X-linked, syndromic, 13 (MRXS13) [MIM:300055]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXS13 patients manifest mental retardation associated with other variable features such as spasticity, episodes of manic depressive psychosis, increased tone and macroorchidism. {ECO:0000269 PubMed:10986043, ECO:0000269 PubMed:11007980, ECO:0000269 PubMed:11309367, ECO:0000269 PubMed:11805248, ECO:0000269 PubMed:11885030, ECO:0000269 PubMed:12161600, ECO:0000269 PubMed:12325019, ECO:0000269 PubMed:12615169, ECO:0000269 PubMed:16966553}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Rett syndrome (RTT) [MIM:312750]: An X-linked dominant neurodevelopmental disorder, and one of the most common causes of mental retardation in females. Patients appear to develop normally until 6 to 18 months of age, then gradually lose speech and purposeful hand movements, and develop microcephaly, seizures, autism, ataxia, mental retardation and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood. {ECO:0000269 PubMed:10508514, ECO:0000269 PubMed:10577905, ECO:0000269 PubMed:10745042, ECO:0000269 PubMed:10767337, ECO:0000269 PubMed:10814719, ECO:0000269 PubMed:10944854, ECO:0000269 PubMed:10991688, ECO:0000269 PubMed:10991689, ECO:0000269 PubMed:11055898, ECO:0000269 PubMed:11241840, ECO:0000269 PubMed:11269512, ECO:0000269 PubMed:11283202, ECO:0000269 PubMed:11376998, ECO:0000269 PubMed:11402105, ECO:0000269 PubMed:11706982, ECO:0000269 PubMed:11738883, ECO:0000269 PubMed:12161600, ECO:0000269 PubMed:12567420, ECO:0000269 PubMed:12966522, ECO:0000269 PubMed:12966523, ECO:0000269 PubMed:15034579, ECO:0000269 PubMed:15057977}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Autism, X-linked 3 (AUTSX3) [MIM:300496]: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. {ECO:0000269 PubMed:12770674}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • Encephalopathy, neonatal severe, due to MECP2 mutations (ENS-MECP2) [MIM:300673]: A neurodevelopmental disorder characterized by severe neonatal encephalopathy, developmental delay, mental retardation, microcephaly, seizures. Additional features include respiratory insufficiency and central hypoventilation, gastroesophageal reflux, axial hypotonia, hyperreflexia and dyskinetic movements. {ECO:0000269 PubMed:11238684}. Note=The disease is caused by mutations affecting the gene represented in this entry. The MECP2 gene is mutated in Rett syndrome, a severe neurodevelopmental disorder that almost always occurs in females. Although it was first thought that MECP2 mutations causing Rett syndrome were lethal in males, later reports identified a severe neonatal encephalopathy in surviving male sibs of patients with Rett syndrome. Additional reports have confirmed a severe phenotype in males with Rett syndrome-associated MECP2 mutations.
  • Mental retardation, X-linked, syndromic, Lubs type (MRXSL) [MIM:300260]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSL patients manifest mental retardation associated with variable features. They include swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections, hypotonia, mild myopathy and characteristic facies such as downslanting palpebral fissures, hypertelorism and a short nose with a low nasal bridge. {ECO:0000269 PubMed:16080119}. Note=The disease is caused by mutations affecting the gene represented in this entry. Increased dosage of MECP2 due to gene duplication appears to be responsible for the mental retardation phenotype.

(46) Novoseek inferred disease relationships for MECP2 Gene

Disease -log(P) Hits PubMed IDs
rett syndrome 99 255
mental retardation 83.3 110
encephalopathy neonatal 79.9 16
angelman syndrome 79 18
autistic 77 35

Relevant External Links for MECP2

GeneTests
MECP2
GeneReviews
MECP2
Genetic Association Database (GAD)
MECP2
Human Genome Epidemiology (HuGE) Navigator
MECP2
genes like me logo Genes that share disorders with MECP2: view

No data available for Genatlas for MECP2 Gene

Publications for MECP2 Gene

  1. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. (PMID: 10508514) Amir R.E. … Zoghbi H.Y. (Nat. Genet. 1999) 2 3 4 23
  2. Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. (PMID: 10944854) Amano K. … Yamakawa K. (J. Hum. Genet. 2000) 3 4 23
  3. A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. (PMID: 10986043) Meloni I. … Renieri A. (Am. J. Hum. Genet. 2000) 3 4 23
  4. MECP2 mutation in male patients with non-specific X-linked mental retardation. (PMID: 11007980) Orrico A. … Sorrentino V. (FEBS Lett. 2000) 3 4 23
  5. MECP2 mutation in non-fatal, non-progressive encephalopathy in a male. (PMID: 11238684) Imessaoudene B. … Amiel J. (J. Med. Genet. 2001) 3 4 23

Products for MECP2 Gene

  • Addgene plasmids for MECP2

Sources for MECP2 Gene

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