Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MECP2 Gene

Aliases for MECP2 Gene

  • Methyl-CpG Binding Protein 2 2 3 5
  • MeCp-2 Protein 3 4
  • Methyl CpG Binding Protein 2 (Rett Syndrome) 2
  • Testis Tissue Sperm-Binding Protein Li 41a 3
  • Mental Retardation, X-Linked 16 2
  • Mental Retardation, X-Linked 79 2
  • Methyl CpG Binding Protein 2 2
  • Methyl-CpG-Binding Protein 2 3
  • Rett Syndrome 2
  • AUTSX3 3
  • MRXS13 3
  • MRXSL 3
  • MRX16 3
  • MRX79 3
  • MeCp2 4
  • PPMX 3
  • RTS 3
  • RTT 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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]

GeneCards Summary for MECP2 Gene

MECP2 (Methyl-CpG Binding Protein 2) is a Protein Coding gene. Diseases associated with MECP2 include Mental Retardation, X-Linked, Syndromic 13 and Rett Syndrome. Among its related pathways are Neuroscience and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. GO annotations related to this gene include poly(A) RNA binding and chromatin 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MECP2 Gene

Genomics for MECP2 Gene

Regulatory Elements for MECP2 Gene

Enhancers for MECP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG154540 1.5 FANTOM5 ENCODE 9.2 -405.2 -405235 3.7 HDGF PKNOX1 FOXA2 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 YY1 FAM3A IKBKG F8A1 F8A2 GAB3 MECP2 MPP1 EMD DNASE1L1 IRAK1
GH0XG154038 1.5 FANTOM5 Ensembl ENCODE 7.2 +93.8 93800 9.2 NFIB ZSCAN4 ZNF133 FEZF1 RAD21 ZNF121 GATA2 SCRT2 FOS EGR2 TMEM187 HCFC1 HCFC1-AS1 IKBKG ABCD1 DNASE1L1 MECP2 FAM50A ATP6AP1 EMD
GH0XG153730 1.3 FANTOM5 Ensembl ENCODE 5.6 +405.4 405444 2.8 SOX13 CBX3 IRF2 SAP130 CEBPG ZSCAN29 FOS GATAD2A SOX5 HLF PNCK PLXNB3 LOC102723591 SLC6A8 ABCD1 MECP2 TMEM187 IKBKG ARHGAP4 IRAK1
GH0XG154123 1.6 FANTOM5 Ensembl ENCODE 3.9 +13.2 13163 1.4 PKNOX1 ATF1 ARNT FEZF1 TCF12 ZNF766 ELK1 GATA2 NCOA1 SMARCB1 RENBP MECP2 ARHGAP4 IKBKG PIR60620
GH0XG153965 1.8 FANTOM5 ENCODE dbSUPER 3.3 +166.6 166588 10.0 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ZFP64 WRNIP1 SIN3A FEZF1 DMAP1 TMEM187 SNORA70 SNORA56 FAM3A ABCD1 PLXNB3 ARHGAP4 MECP2 RENBP DNASE1L1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MECP2 on UCSC Golden Path with GeneCards custom track

Promoters for MECP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000249648 203 601 ATF1 RB1 ZNF48 ZBTB7B RAD21 ZNF121 GLIS2 ZNF143 CREM ZNF654

Genomic Location for MECP2 Gene

Chromosome:
X
Start:
154,021,573 bp from pter
End:
154,137,103 bp from pter
Size:
115,531 bases
Orientation:
Minus strand

Genomic View for MECP2 Gene

Genes around MECP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MECP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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)
  • Cloud-Clone Corp. Antibodies for MECP2

No data available for DME Specific Peptides for MECP2 Gene

Domains & Families for MECP2 Gene

No data available for UniProtKB/Swiss-Prot 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:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003677 DNA binding IEA,TAS 9620804
GO:0003682 chromatin binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0003714 transcription corepressor activity TAS 10773092
genes like me logo Genes that share ontologies with MECP2: view
genes like me logo Genes that share phenotypes with MECP2: view

Human Phenotype Ontology for MECP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MECP2 Gene

MGI Knock Outs for MECP2:

Animal Model Products

CRISPR Products

miRNA for MECP2 Gene

miRTarBase miRNAs that target MECP2

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MECP2

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MECP2 gene
Compartment Confidence
extracellular 5
nucleus 5
mitochondrion 3
cytosol 3
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for MECP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000792 heterochromatin IDA 11441023
GO:0000930 colocalizes_with gamma-tubulin complex IMP 25527496
GO:0005615 extracellular space IDA 22664934
GO:0005634 nucleus IDA,IEA 11441023
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with MECP2: view

Pathways & Interactions for MECP2 Gene

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

Pathways by source for MECP2 Gene

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 TAS 9620804
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

No data available for SIGNOR curated interactions for MECP2 Gene

Drugs & Compounds for MECP2 Gene

(19) Drugs for MECP2 Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dextromethorphan Approved Pharma 133
Guaifenesin Approved, Vet_approved Pharma 641
Phenylpropanolamine Approved, Vet_approved, Withdrawn Pharma 641
Antitussive Agents Pharma 542
Chlorpheniramine, phenylpropanolamine drug combination Pharma 641

(8) Additional Compounds for MECP2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MECP2

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for MECP2 Gene

Protein differential expression in normal tissues from HIPED for MECP2 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MECP2 Gene



Protein tissue co-expression partners for MECP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MECP2 Gene:

MECP2

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.

Evidence on tissue expression from TISSUES for MECP2 Gene

  • Blood(4.4)
  • Intestine(4.4)
  • Liver(4.4)
  • Muscle(4.4)
  • Nervous system(4.3)
  • Lung(2.3)
  • Skin(2.3)
  • Heart(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MECP2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • salivary gland
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
  • testicle
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with MECP2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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
chimpanzee
(Pan troglodytes)
Mammalia MECP2 34 35
  • 99.72 (n)
dog
(Canis familiaris)
Mammalia MECP2 34 35
  • 93.55 (n)
cow
(Bos Taurus)
Mammalia MECP2 34 35
  • 92.04 (n)
mouse
(Mus musculus)
Mammalia Mecp2 34 16 35
  • 90.15 (n)
rat
(Rattus norvegicus)
Mammalia Mecp2 34
  • 89.26 (n)
oppossum
(Monodelphis domestica)
Mammalia MECP2 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MECP2 35
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MECP2 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mecp2 34
  • 65.86 (n)
African clawed frog
(Xenopus laevis)
Amphibia MECP2 34
zebrafish
(Danio rerio)
Actinopterygii mecp2 34 35
  • 62.35 (n)
wufk96a04 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 12 (a)
OneToMany
Species where no ortholog for MECP2 was found in the sources mined by GeneCards:
  • 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
rs267608454 Uncertain significance, Rett syndrome (RTT) [MIM:312750] 154,032,226(-) GGAAG(G/T)ATGAT reference, missense, utr-variant-5-prime
rs28934904 Pathogenic, Rett syndrome (RTT) [MIM:312750] 154,031,431(-) CCTTT(C/G/T)GCTCT reference, missense, utr-variant-5-prime
rs28934905 Pathogenic, Rett syndrome (RTT) [MIM:312750] 154,031,364(-) TGATT(C/G/T)TGACT intron-variant, reference, missense
rs28934906 Pathogenic, Rett syndrome (RTT) [MIM:312750] 154,031,355(-) CTTCA(C/T)GGTAA intron-variant, reference, missense
rs28934907 Pathogenic, Rett syndrome (RTT) [MIM:312750] 154,032,268(-) GGACA(C/G/T)GGAAG reference, missense, utr-variant-5-prime

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
esv3575026 CNV loss 25503493
nsv1076285 CNV deletion 25765185
nsv1144326 CNV deletion 24896259
nsv517994 CNV gain 19592680
nsv519042 CNV gain 19592680

Variation tolerance for MECP2 Gene

Residual Variation Intolerance Score: 32.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.94; 35.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MECP2 Gene

Human Gene Mutation Database (HGMD)
MECP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MECP2

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

Disorders for MECP2 Gene

MalaCards: The human disease database

(47) MalaCards diseases for MECP2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, x-linked, syndromic 13
  • x-linked intellectual disability-psychosis-macroorchidism syndrome
rett syndrome
  • rett syndrome, preserved speech variant
encephalopathy, neonatal severe
  • encephalopathy, neonatal severe, due to mecp2 mutations
mental retardation, x-linked syndromic, lubs type
  • syndromic x-linked intellectual disability lubs type
autism susceptibility, x-linked 3
  • autism, x-linked 3
- elite association - COSMIC cancer census association via MalaCards
Search MECP2 in MalaCards View complete list of genes associated with diseases

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.
  • 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, 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, ECO:0000269 PubMed:17296936}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.
  • 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, ECO:0000269 PubMed:17296936}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MECP2

Genetic Association Database (GAD)
MECP2
Human Genome Epidemiology (HuGE) Navigator
MECP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 22 64
  2. High frequency of nonrecurrent MECP2 duplications among Brazilian males with mental retardation. (PMID: 19806472) Campos M. … Pimentel M.M. (J. Mol. Neurosci. 2010) 3 22 46 64
  3. [Analysis of the parental origin of MECP2 mutations in patients with Rett syndrome]. (PMID: 20376788) Zhang J.J. … Wu X.R. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2010) 3 22 46 64
  4. Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. (PMID: 18985075) Lugtenberg D. … de Brouwer A.P. (Eur. J. Hum. Genet. 2009) 3 22 46 64
  5. Variants within MECP2, a key transcription regulator, are associated with increased susceptibility to lupus and differential gene expression in patients with systemic lupus erythematosus. (PMID: 19333917) Webb R. … Sawalha A.H. (Arthritis Rheum. 2009) 3 22 46 64

Products for MECP2 Gene

Sources for MECP2 Gene

Content
Loading form....