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MECP2 Gene

protein-coding   GIFtS: 68

GC0XM152940
methyl CpG binding protein 2 (Rett syndrome)
(Previous names: mental retardation, X-linked 16, mental retardation, X-linked 79 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: RTT, MRX16, MRX79)
Services    

Aliases &
Descriptions
for MECP2

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
AUTSX3 2, 5
DKFZp686A24160 2
MRX16 2, 5
MRX79 2, 5
MRXS13 2, 5
MRXSL 2, 5
MeCP2 3
OTTHUMP00000026021 2
PPMX 2, 5
RTS 2
RTT 2, 5
Descriptions
MeCP-2 protein 3
mental retardation, X-linked 16 1
mental retardation, X-linked 79 1
methyl CpG binding protein 2 2
methyl CpG binding protein 2 (Rett syndrome) 2
External Ids
HGNC: 69901
Entrez Gene: 42042
UniProtKB: P516083
Ensembl: ENSG000001690577
Search outside databases for aliases for MECP2 gene

Previous GC identifers: GC0XM147424 GC0XM149742 GC0XM150872 GC0XM151755 GC0XM152808

Summaries
for MECP2

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

 EntrezGene summary for MECP2:
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 some
cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common
causes of mental retardation in females. [provided by RefSeq]

UniProtKB/Swiss-Prot: MECP2_HUMAN, P51608
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

Gene Wiki entry for MECP2

Genomic Location
for MECP2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the MECP2 gene  

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

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

GeneLoc gene densities for chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM152940:     (about GC identifiers)

Start:
 152,940,218 bp from pter
End:
 153,016,406 bp from pter
Size:
 76,189 bases
Orientation:
 minus strand
RefSeq DNA sequence:
NC_000023.9  NT_011726.13  

Proteins
for MECP2

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

 UniProtKB/Swiss-Prot: MECP2_HUMAN, P51608 (See protein sequence)
Recommended Name: Methyl-CpG-binding protein 2  
Size: 486 amino acids; 52441 Da
Subunit: Interacts with FNBP3 (By similarity)
Subcellular location: Nucleus. Note=Colocalized with methyl-CpG in the genome
PDB structure from and Proteopedia :
1QK9 (3D)    3C2I (3D)    
Secondary accessions: O15233 Q6QHH9 Q7Z384
Alternative splicing: 2 isoforms:  P51608-1   P51608-2   

Post-translational modifications:

  • Phosphorylated on Ser-423 in brain upon synaptic activity, which attenuates its repressor activity
    and seems to regulate dendritic growth and spine maturation (By similarity)1
  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins (2 alternative transcripts): 
    NP_001104262.1  NP_004983.1  


    ENSEMBL proteins: 
    ENSP00000358973 ENSP00000301948 ENSP00000358981 ENSP00000377278 ENSP00000384865 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (MeCP2)
    Human Recombinant Proteins from Abnova (MECP2)
                  OriGene Purified Recombinant Human Protein: MECP2 

    3 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus TAS10773092
    GO:0005730NOT nucleolus IDA18029348
    GO:0005739 mitochondrion IDA18029348
    About this table

    Antibodies for MECP2: 
    Browse Antibodies Central at Invitrogen
    Millipore Mono- and Polyclonal Antibodies for the study of MECP2
    Sigma-Aldrich Antibody Arrays and Antibodies for MECP2
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for MECP2 
    Antibodies from Abcam (MeCP2), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (MECP2)
    Novus Biologicals Antibodies for MECP2

    Assays for MECP2: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    Protein Domains/
    Families
    for MECP2

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro domains/families:
     IPR017956 AT_hook_DNA-bd_CS
     IPR017353 Methyl_CpG-bd_MeCP2
     IPR001739 Methyl_CpG_DNA-bd


       GeneDecks  MECP2 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P51608

    ProtoNet protein and cluster: P51608

    1 Blocks protein family: IPB001739 Methyl-CpG binding

    UniProtKB/Swiss-Prot: MECP2_HUMAN, P51608
    Similarity: Contains 2 A.T hook DNA-binding domains
    Similarity: Contains 1 MBD (methyl-CpG-binding) domain

    Gene Function
    for MECP2

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (MECP2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (MECP2)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_004992

                  Applied Biosystems Silencer® siRNAs for MECP2

                  Sigma-Aldrich siRNA and siRNA Panels for MECP2  
                         Sigma-Aldrich shRNA for MECP2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for MECP2
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001110792
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001110792
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_001110792 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_001110792

    UniProtKB/Swiss-Prot: MECP2_HUMAN, P51608
    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

    Genatlas biochemistry entry for MECP2:
    methyl CpG-binding protein 2,abundant chromosomal protein,murine Mecp2 homolog,that selectivity
    binds 5'methyl 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

    15/17 MGI mutant phenotypes (inferred from 12 alleles) (MGI details for Mecp2) (see all 17 ):

    adipose tissuebehavior/neurologicalcellularcraniofacialendocrine/exocrine gland
    growth/sizehearing/vestibular/earhomeostasis/metabolismlife span-post-weaning/agingnervous system
    no phenotypic analysisotherreproductive systemrespiratory systemskeleton

    4 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677 DNA binding TAS9620804
    GO:0003714 transcription corepressor activity TAS10773092
    GO:0005515 protein binding IPI15696166
    GO:0010385 double-stranded methylated DNA binding IMP17296936
    About this table

    Pathways & Interactions
    for MECP2

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    1 Millipore Pathway for MECP2
     GABA signaling in brain

       GeneDecks  MECP2 for the pathways selected above  
    About GeneDecksing

    1 Sigma-Aldrich "Your Favorite Gene" Pathway for  MECP2  (Your Favorite Gene powered by Ingenuity) 
     DNA Methylation and Transcriptional Repression Signaling

       GeneDecks  MECP2 for the pathways selected above  
    About GeneDecksing

     Gene Network CentralTM Interacting Genes and Proteins Network for  MECP2 


    5/60 Interacting proteins for MECP2 (P516081 ENSP000003589733) via UniProtKB, MINT, and/or STRING (see all 60 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMARCA2P515311, ENSP000002657733EBI-1189067, EBI-679562 STRING (score=.815)
    SIN3AENSP000003536223STRING (score=.998)
    HDAC1ENSP000003626493STRING (score=.991)
    DLX5ENSP000002225983STRING (score=.989)
    HDAC2ENSP000003576213STRING (score=.983)
    About this table

    3 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122 negative regulation of transcription from RNA polymerase II promoter TAS9620804
    GO:0006350 transcription IEA--
    GO:0006355 regulation of transcription, DNA-dependent IEA--
    About this table

    Drugs & Compounds
    for MECP2

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for MECP2
    8 Novoseek chemical compound relationships for MECP2 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    cytosine 54.61 3 10390525 (1), 10319871 (1), 18313390 (1)
    5-methylcytosine 44.38 6 11331619 (1), 15917437 (1), 17309881 (1)
    hpaii 20.38 2 11691937 (2)
    guanosine 0.00 3 11453972 (1)
    p003 0.00 1 11965543 (1)
    oligonucleotide 0.00 1 15689352 (1)
    zinc 0.00 2 18433299 (1)
    methionine 0.00 1 12939425 (1)
    About this table


    Transcripts
    for MECP2

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (MECP2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (MECP2)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_004992

                  Sigma-Aldrich siRNA and siRNA Panels for MECP2  
                         Sigma-Aldrich shRNA for MECP2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001110792  NM_004992  

    REFSEQ mRNAs for MECP2 gene (2 alternative transcripts): 

    NM_001110792.1   NM_004992.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001110792  NM_004992  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001110792
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001110792
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_001110792 

    Additional cDNA sequence: 

    AB209464.1 AF158180.1 AJ132917.1 AK289444.1 AY541280.1 BC011612.1 BC062546.1 BX538060.1 
    CR598471.1 CR604541.1 CR612728.1 DQ656049.2 DQ656051.2 L37298.1 X89430.1 X99686.1 
    Y12643.1 

    17 DOTS entries:

    DT.92046808  DT.92434186  DT.453173  DT.100689162  DT.100730813  DT.100798087  DT.92434188  DT.121294059 
    DT.92024639  DT.100798090  DT.121294481  DT.100831459  DT.121294031  DT.121294333  DT.75101285  DT.86846848 
    DT.91868594 

    24/269 AceView cDNA sequences (see all 269 ):

    AI381864 AA543089 Z41666 BC031833 AI439398 BM715775 BQ721642 BQ129289 
    AI278296 BM893890 BU902034 AI224490 AJ132917 AA594867 CA390138 AI475760 
    AA888593 BM850695 BI793089 AW407215 BU679576 AA832448 BM967227 BG741923 

    highest scoring ESTs for MECP2:

    AJ132917 AF158180 AL703584 AY541280 BG422554 BI223414 BI517610 BI821242 BI857780 BQ049377 

    Unigene Cluster for MECP2:

    Methyl CpG binding protein 2 (Rett syndrome)
    Hs.200716  [show with all ESTs]
    Unigene Representative Sequence: NM_004992


    GeneLoc Exon Structure

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

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

    About this scheme

    ECgene alternative splicing isoforms for MECP2

    5 Ensembl transcripts including schematic representations:
    ENST00000369957  ENST00000303391  ENST00000369964  ENST00000393671  ENST00000407218  

    Expression
    for MECP2

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    MECP2 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for MECP2

    1 / 2 / 3

    7 probe-sets matching MECP2 gene


    		Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    		34355_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 AJ132917 0.80 1.00 0.91 1

    		202618_s_at2, 3 U133-A 1 1.00 1.00 -- -- L37298 0.60 1.00 0.82 1

    		202616_s_at2, 3 U133-A 1 1.00 1.00 -- -- AI631140 0.60 1.00 0.82 1

    		202617_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_004992 0.60 1.00 0.82 1

    		202618_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		202616_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		202617_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: CCAAGGCCAA

    SOURCE GeneReport for Unigene cluster: Hs.200716

    Expression variation in blood from EXPOLDB for MECP2

    UniProtKB/Swiss-Prot: MECP2_HUMAN, P51608
    Tissue specificity: Present in all adult somatic tissues tested

    Orthologs
    for MECP2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for MECP2 gene from 5/7 species (see all 7 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 MECP21   -- methyl CpG binding protein 2 (Rett syndrome) 93.55(n)
    96.5(a)    		 612973  XM_848395.1  XP_853488.1 
    chimpanzee
    (Pan troglodytes)    		 MECP21   -- methyl CpG binding protein 2 (Rett syndrome) 99.72(n)
    100(a)    		 465936  XM_521333.2  XP_521333.2 
    cow
    (Bos taurus)    		 MECP21   -- methyl CpG binding protein 2 (Rett syndrome) 91.65(n)
    95.03(a)    		 539629  XM_588477.3  XP_588477.3 
    rat
    (Rattus norvegicus)    		 Mecp21   -- methyl CpG binding protein 2 89.67(n)
    96.07(a)    		 29386  NM_022673.1  NP_073164.1 
    mouse
    (Mus musculus)    		 Mecp21, 5 X (29.60 cM)5
    		 methyl CpG binding protein 21, 5 90.53(n)1
    95.58(a)1    		 172571  NM_001081979.11  NP_001075448.11 
     AA3876875  AA6907415  (see all 24)
    About this table        Species with no ortholog for MECP2

    ENSEMBL Gene Tree for MECP2

    Paralogs
    for MECP2

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for MECP2 gene
    MBD42  

    SNPs/Variants
    for MECP2

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/556 NCBI SNPs in MECP2 are shown (see all 556 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 129)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr X posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    rs27346471,2
    		A,C,F,H152945374(+) CTGTGC/TCTTTT 1 -- ut31 ese34Minor allele frequency- T:0.42EU EA WA 418
    rs27346431,2
    		C,F,H152944381(+) TTGCTC/TGTATT 1 -- ut314Minor allele frequency- T:0.05EU EA WA 418
    rs38134581,2
    		F,H152946609(-) CCGTTC/GTGTTT 1 -- ut314Minor allele frequency- G:0.01EU EA WA 418
    rs30279151,2
    		C,F152941156(+) TTTGCT/GGGCGA 1 -- ut31 ese31Minor allele frequency- G:0.03NA 92
    rs30279171,2
    		F,H152941264(+) TGGAGG/AATGGG 1 -- ut314Minor allele frequency- A:0.01EU EA WA 416
    rs27346451,2
    		C152947570(+) CAGGTC/TGGACT 1 -- ut310--------
    rs115758031,2
    		H153017366(-) GTTTTC/TTTGCT 1 -- ng314Minor allele frequency- T:0.00EU EA WA 418
    --
    rs28533371,2
    		C152947736(-) cctccA/Gtcctc 1 -- ut31 ese30--------
    rs38134591,2
    		H152946554(-) CCTTAT/CGCTGT 1 -- ut314Minor allele frequency- C:0.00EU EA WA 416
    rs284036281,2
    		F152945893(-) CAGTCG/ACCTTT 1 -- ut31 ese32Minor allele frequency- A:0.01MN EA 1252
    About this table

    HapMap Linkage Disequilibrium images for MECP2 (up to first 250kb)

    Disorders & Mutations
    for MECP2

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    		 OMIM: 300005   disorders: 312750  300055  312750  300673  300496  105830  300260  

    UniProtKB/Swiss-Prot: MECP2_HUMAN, P51608

  • Defects in MECP2 may be a cause of Angelman syndrome (AS) [MIM:105830]; also known as
    happy puppet syndrome. AS is a neurodevelopmental disorder characterized by severe mental
    retardation, absent speech, ataxia, sociable affect and dysmorphic facial features. AS and Rett
    syndrome have overlapping clinical features
  • Defects in MECP2 are the cause of mental retardation syndromic X-linked type 13 (MRXS13)
    [MIM:300055]. Mental retardation is a mental disorder characterized by significantly sub-average
    general intellectual functioning associated with impairments in adaptative 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
  • Defects in MECP2 are the cause of Rett syndrome (RTT) [MIM:312750]. RTT is an X-linked
    dominant disease, it is a progressive neurologic developmental 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, intermittent hyperventilation, and stereotypic hand movements. After
    initial regression, the condition stabilizes and patients usually survive into adulthood
  • Defects in MECP2 may be the cause of susceptibility to X-linked autism 3 (AUTSX3)
    [MIM:300496]. AUTSX3 is a pervasive developmental disorder (PDD), prototypically 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
  • Defects in MECP2 are the cause of neonatal severe encephalopathy due to MECP2 mutations
    [MIM:300673]. 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
  • A chromosomal duplication involving MECP2 is the cause of mental retardation syndromic
    X-linked Lubs type (MRXSL) [MIM:300260]. Increased dosage of MECP2 appears to be responsible for
    the mental retardation phenotype. The main features present in affected males are severe to
    profound mental retardation with onset at birth, axial and facial hypotonia, progressive
    spasticity predominantly at the lower limbs, seizures and recurrent infections

    • 10/46 Novoseek disease relationships for MECP2 gene (see all 46 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    rett syndrome 98.93 681 14649549 (5), 17986102 (5), 18174559 (5), 11896459 (4) (see all 99)
    mental retardation 81.85 117 17084570 (4), 15814190 (4), 18985075 (3), 15704871 (3) (see all 68)
    angelman syndrome 80.51 19 15866439 (2), 15578581 (2), 11283202 (1), 14734626 (1) (see all 16)
    autistic 77.03 40 12770674 (4), 17427193 (3), 11464249 (3), 12707946 (3) (see all 22)
    encephalopathy neonatal 76.73 12 12719401 (2), 11930274 (2), 12447790 (1), 14529314 (1) (see all 10)
    severe mental retardation 72.45 12 18985075 (2), 12447790 (1), 16080119 (1), 11262731 (1) (see all 9)
    pervasive developmental disorder 67.01 5 12027529 (1), 14734626 (1), 12555243 (1), 18302128 (1)
    microcephaly 65.03 9 15939091 (1), 17936729 (1), 19090026 (1), 10508514 (1) (see all 7)
    icf syndrome 61.24 1 18786650 (1)
    neurological disorders 60.26 23 11242118 (1), 12928486 (1), 14529314 (1), 16354910 (1) (see all 18)
    About this table

    GeneTests: MECP2
    MECP2 Duplication Syndrome

    Human Gene Mutation Database: MECP2
    Genetic Association Database: MECP2
    Human Genome Epidemiology Navigator: MECP2 (51 documents)

    Medical News
    for MECP2

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    Publications
    for MECP2

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    		10/481 PubMed articles for MECP2 gene (see all 481 ):

    Search for MECP2

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing MECP2

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section
    Entrez Gene: 4204 HGNC: 6990 AceView: MECP2 Ensembl:ENSG00000169057 euGenes: HUgn4204
    ECgene: MECP2 H-InvDB: MECP2

    Other Databases showing MECP2

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing MECP2

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    ATLAS Chromosomes in Cancer entry for MECP2 Genetics and Cytogenetics in Oncology and Haematology
    RettBASEhttp://mecp2.chw.edu.au/mecp2/
    GeneDishttp://life2.tau.ac.il/GeneDis/Tables/Rett/rtt.html
    GeneReviewshttp://www.genetests.org/query?gene=MECP2

    Licensable Technologies
    for MECP2

    (Available from WIS Yeda, Salk, Tufts)
    About This Section

    		  --

    Services
    for MECP2

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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