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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MECP2 Gene

protein-coding   GIFtS: 69
GCID: GC0XM153287

Methyl CpG Binding Protein 2 (Rett Syndrome)

(Previous names: mental retardation, X-linked 16, mental retardation, X-linked...)
(Previous symbols: RTT, MRX16, MRX79)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Methyl CpG Binding Protein 2 (Rett Syndrome)1 2     PPMX2 5
MRX161 2 5     Mental Retardation, X-Linked 161
MRX791 2 5     Mental Retardation, X-Linked 791
RTT1 2 5     RS2
MeCp-2 Protein2 3     RTS2
AUTSX32 5     Methyl-CpG-Binding Protein 22
MRXS132 5     MeCp23
MRXSL2 5     

External Ids:    HGNC: 69901   Entrez Gene: 42042   Ensembl: ENSG000001690577   OMIM: 3000055   UniProtKB: P516083   
ORGUL members:         
NONCODE14:n337397      

Export aliases for MECP2 gene to outside databases

Previous GC identifers: GC0XM147424 GC0XM149742 GC0XM150872 GC0XM151755 GC0XM152808 GC0XM152940 GC0XM141928


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

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 (Rett syndrome)) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with MECP2 include rett syndrome, and classic rett syndrome, and among its related super-pathways are Synaptic Neurotransmission: GABAergic Inhibition and Macrophage Differentiation and Growth Inhibition by METS. GO annotations related to this gene include transcription factor binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is MBD4.

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 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_167198.1  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MECP2 gene promoter:
         TBP   ISGF-3   Nkx2-5   IRF-1   STAT5A   NF-Y   CBF(2)   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MECP2 promoter sequence
   Search SABiosciences Chromatin IP Primers for MECP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MECP2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

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)
MECP2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM153287:  view genomic region     (about GC identifiers)

Start:
153,287,024 bp from pter      End:
153,402,578 bp from pter
Size:
115,555 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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). Interacts with CDKL5
Subcellular location: Nucleus. Note=Colocalized with methyl-CpG in the genome
Sequence caution: Sequence=CAD97991.1; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for MECP2:
1QK9 (3D)        3C2I (3D)    
Secondary accessions: O15233 Q6QHH9 Q7Z384
Alternative splicing: 2 isoforms:  P51608-1   P51608-2   (Ten times higher expression levels than isoform A in brain)

Explore the universe of human proteins at neXtProt for MECP2: NX_P51608

Explore proteomics data for MECP2 at MOPED 

Post-translational modifications:

  • UniProtKB: 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)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P51608

  • MECP2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MECP2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001104262.1  NP_004983.1  

    ENSEMBL proteins: 
     ENSP00000301948   ENSP00000395535   ENSP00000384865   ENSP00000358973   ENSP00000416267  

    Human Recombinant Protein Products for MECP2: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
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    OriGene Protein Over-expression Lysate for MECP2
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for MECP2
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    Novus Biologicals MECP2 Proteins
    Novus Biologicals MECP2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for MECP2
    Cloud-Clone Corp. Proteins for MECP2 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000792heterochromatin IDA11441023
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm ----
    GO:0005829cytosol IEA--

    MECP2 for ontologies           About GeneDecksing



    MECP2 Antibody Products: 
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    Abcam antibodies for MECP2
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    Assay Products for MECP2: 
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    Cloud-Clone Corp. CLIAs for MECP2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR017956 AT_hook_DNA-bd_motif
     IPR001739 Methyl_CpG_DNA-bd
     IPR017353 Me_CpG-bd_MeCP2
     IPR016177 DNA-bd_integrase-typ

    Graphical View of Domain Structure for InterPro Entry P51608

    ProtoNet protein and cluster: P51608

    1 Blocks protein domain: 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


    MECP2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS9620804
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0003714transcription corepressor activity TAS10773092
    GO:0003729mRNA binding IEA--
         
    MECP2 for ontologies           About GeneDecksing


    Phenotypes:
         15/20 MGI mutant phenotypes (inferred from 20 alleles(MGI details for Mecp2) (see all 20):
     adipose tissue  behavior/neurological  cellular  craniofacial  embryogenesis 
     endocrine/exocrine gland  growth/size  hearing/vestibular/ear  homeostasis/metabolism  immune system 
     integument  liver/biliary system  mortality/aging  nervous system  no phenotypic analysis 

    MECP2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for MECP2: Mecp2tm1Pplt Mecp2tm1.1Jae Mecp2tm1Jchr Mecp2tm1Hzo Mecp2tm1.1Bird

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MECP2 
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MECP2 

    miRNA
    Products:
        
    miRTarBase miRNAs that target MECP2:
    hsa-mir-199b-3p (MIRT004396), hsa-mir-155 (MIRT000442), hsa-mir-212 (MIRT003897), hsa-mir-122 (MIRT003089), hsa-mir-19a (MIRT001795), hsa-mir-195 (MIRT000795), hsa-mir-802 (MIRT000441), hsa-mir-199a-5p (MIRT004395)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MECP2
    8/100 QIAGEN miScript miRNA Assays for microRNAs that regulate MECP2 (see all 100):
    hsa-miR-194* hsa-miR-548j hsa-miR-520f hsa-miR-361-5p hsa-miR-3607-3p hsa-miR-199a-3p hsa-miR-106a hsa-miR-218-1*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of MECP2

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    OriGene ORF clones in mouse, rat for MECP2
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    GenScript: all cDNA clones in your preferred vector (see all 2): MECP2 (NM_004992)
    Sino Biological Human cDNA Clone for MECP2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MECP2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MECP2
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    Cell Line
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MECP2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MECP2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1GABA A receptor activation
    GABA signaling in brain0.32
    2DNA Methylation and Transcriptional Repression
    DNA Methylation and Transcriptional Repression0.30
    3SIDS Susceptibility Pathways
    SIDS Susceptibility Pathways
    4Neuroscience
    Neuroscience
    5Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for MECP2
        GABA signaling in brain

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for MECP2
        DNA Methylation and Transcriptional Repression

    2 Cell Signaling Technology (CST) Pathways for MECP2
        Chromatin Regulation / Acetylation
    Neuroscience

    1 BioSystems Pathway for MECP2
        SIDS Susceptibility Pathways




    MECP2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MECP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    35/53 Interacting proteins for MECP2 (P516081, 2, 3 ENSP000003955354) via UniProtKB, MINT, STRING, and/or I2D (see all 53) (see top 5)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMARCA2P515311, 3, ENSP000002657734EBI-1189067,EBI-679562 I2D: score=5 STRING: ENSP00000265773
    HIPK2Q9H2X62, 3MINT-7308929 MINT-7308914 I2D: score=1 
    HIST2H3AQ71DI33, ENSP000003854794I2D: score=1 STRING: ENSP00000385479
    HIST2H3CQ71DI33I2D: score=1 
    HIST2H3DQ71DI33I2D: score=1 
    SMARCB1Q128243, ENSP000002631214I2D: score=3 STRING: ENSP00000263121
    SKIP127553, ENSP000003677974I2D: score=2 STRING: ENSP00000367797
    RBPJQ063303, ENSP000003452064I2D: score=1 STRING: ENSP00000345206
    RCOR1Q9UKL03, ENSP000002622414I2D: score=1 STRING: ENSP00000262241
    SIN3BO751823, ENSP000003691314I2D: score=1 STRING: ENSP00000369131
    SMC1AQ146833, ENSP000003234214I2D: score=1 STRING: ENSP00000323421
    SMC3Q9UQE73, ENSP000003547204I2D: score=1 STRING: ENSP00000354720
    SPI1P179473, ENSP000002271634I2D: score=1 STRING: ENSP00000227163
    SUV39H1O434633, ENSP000003658774I2D: score=1 STRING: ENSP00000365877
    SIN3AQ96ST33, ENSP000003536224I2D: score=2 STRING: ENSP00000353622
    HDAC1Q135473, ENSP000003626494I2D: score=1 STRING: ENSP00000362649
    CBX5P459733, ENSP000002098754I2D: score=1 STRING: ENSP00000209875
    SP1P080473, ENSP000003293574I2D: score=1 STRING: ENSP00000329357
    YBX1P678093, ENSP000003616264I2D: score=1 STRING: ENSP00000361626
    SMARCE1Q969G33, ENSP000003239674I2D: score=2 STRING: ENSP00000323967
    CDKL5O760393, ENSP000003693254I2D: score=1 STRING: ENSP00000369325
    GTF2BQ004033, ENSP000003595314I2D: score=1 STRING: ENSP00000359531
    LBRQ147393, ENSP000002721634I2D: score=1 STRING: ENSP00000272163
    NCOR1O753763, ENSP000002687124I2D: score=2 STRING: ENSP00000268712
    PPARGP372313, ENSP000002878204I2D: score=1 STRING: ENSP00000287820
    PRPF40BQ6NWY93, ENSP000003696344I2D: score=1 STRING: ENSP00000369634
    SOX2P484313, ENSP000003235884I2D: score=1 STRING: ENSP00000323588
    SP3Q024473, ENSP000003103014I2D: score=1 STRING: ENSP00000310301
    YY1P254903, ENSP000002622384I2D: score=1 STRING: ENSP00000262238
    DNMT1P263583, ENSP000003525164I2D: score=1 STRING: ENSP00000352516
    HMGB1P094293, ENSP000003430404I2D: score=4 STRING: ENSP00000343040
    ATRXP461003, ENSP000003624414I2D: score=1 STRING: ENSP00000362441
    TERF2Q155543, ENSP000002549424I2D: score=1 STRING: ENSP00000254942
    HDAC2Q927693, ENSP000003813314I2D: score=1 STRING: ENSP00000381331
    EWSR1Q018443, ENSP000003810314I2D: score=1 STRING: ENSP00000381031
    About this table

    Gene Ontology (GO): 5/57 biological process terms (GO ID links to tree view) (see all 57):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter TAS9620804
    GO:0001662behavioral fear response IEA--
    GO:0001666response to hypoxia IEA--
    GO:0001964startle response IEA--
    GO:0001976neurological system process involved in regulation of systemic arterial blood pressure IEA--

    MECP2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MECP2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    10/18 Novoseek inferred chemical compound relationships for MECP2 gene (see all 18)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5-aza-2'deoxycytidine 64.5 2 15247904 (1), 16848908 (1)
    cytosine 53.2 3 10390525 (1), 10319871 (1), 18313390 (1)
    5-methylcytosine 41.6 6 11331619 (1), 15917437 (1), 17309881 (1)
    hpaii 17.5 2 11691937 (2)
    azathioprine 13.9 1 17036333 (1)
    valproate 6.55 1 15870696 (1)
    gaba 6.37 5 17363207 (1), 18302128 (1)
    folate 3.82 5 18058624 (1), 12939425 (1)
    oligonucleotide 0 2 19324899 (1), 15689352 (1)
    guanosine 0 3 11453972 (1)

    Search CenterWatch for drugs/clinical trials and news about MECP2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MECP2 gene (2 alternative transcripts): 
    NM_001110792.1  NM_004992.3  

    Unigene Clusters for MECP2:

    Methyl CpG binding protein 2 (Rett syndrome)
    Hs.200716  [show with all ESTs], Hs.702514  [show with all ESTs]
    Unigene Representative Sequences: GQ203295, HQ154629
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000303391(uc004fjv.2 uc004fjw.2) ENST00000453960 ENST00000407218
    ENST00000486506 ENST00000369957 ENST00000496908 ENST00000464075 ENST00000495474
    ENST00000480620 ENST00000481807 ENST00000488293 ENST00000463644 ENST00000460227
    ENST00000415944
    miRNA
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    8/100 QIAGEN miScript miRNA Assays for microRNAs that regulate MECP2 (see all 100):
    hsa-miR-194* hsa-miR-548j hsa-miR-520f hsa-miR-361-5p hsa-miR-3607-3p hsa-miR-199a-3p hsa-miR-106a hsa-miR-218-1*
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MECP2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MECP2
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MECP2

    Additional mRNA sequence: 

    DQ656051.2 HQ154629.1 

    15 DOTS entries:

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

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

    AA832448 AA888593 BX281740 BI821242 BM671070 BC031833 AL157555 BM893890 
    AI003203 R09924 Z41666 BU679576 AI611806 AI381864 AA543089 BU902034 
    BM263171 AW025137 AW407215 AI224490 BM967227 AI866995 BM986904 AY541280 

    GeneLoc Exon Structure

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

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


    ECgene alternative splicing isoforms for MECP2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MECP2 expression in normal human tissues (normalized intensities)      MECP2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCAAGGCCAA
    MECP2 Expression
    About this image


    MECP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/37 selected tissues (see all 37) fully expand
     
     Brain (Nervous System)    fully expand to see all 14 entries
             Thalamus
             Olfactory Bulb   
     
     Uterus (Reproductive System)    fully expand to see all 5 entries
             uterus, post-menopause ; glandular cells   
     
     Lung (Respiratory System)    fully expand to see all 4 entries
             Stem Bronchi
             lung ; pneumocytes   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Epithelium
             vagina ; squamous epithelial cells   

    See MECP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MECP2

    SOURCE GeneReport for Unigene clusters: Hs.200716 Hs.702514

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

        SABiosciences Expression via Pathway-Focused PCR Array including MECP2: 
              Epigenetic Chromatin Remodeling Factors in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for MECP2 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mecp21 , 5 methyl CpG binding protein 21, 5 90.89(n)1
    95.75(a)1
      X (37.63 cM)5
    172571  NM_001081979.11  NP_001075448.11 
     740265925 
    lizard
    (Anolis carolinensis)
    Reptilia MECP26
    methyl CpG binding protein 2 (Rett syndrome)
    65(a)
    1 ↔ 1
    2(88474297-88595647)
    African clawed frog
    (Xenopus laevis)
    Amphibia MECP22 methyl-CpG-binding protein MeCP2 76.69(n)    AF106951.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufk96a042 Danio rerio methyl-cytosine binding protein 2 (mecp2) more 74.06(n)    AY298900.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MECP2 gene
    MBD42  
    1 SIMAP similar gene for MECP2 using alignment to 17 protein entries:     MECP2_HUMAN (see all proteins):
    MBD4

    MECP2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1574 SNPs in MECP2 are shown (see all 1574)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0182064
    Rett syndrome (RTT)4--see VAR_0182062 P A mis40--------
    VAR_0235574
    Rett syndrome (RTT)4--see VAR_0235572 T A mis40--------
    VAR_0376654
    Mental retardation, X-linked, syndromic, 13 (MRXS13)4--see VAR_0376652 P S mis40--------
    VAR_0181984
    Rett syndrome (RTT)4--see VAR_0181982 P R mis40--------
    VAR_0181904
    Rett syndrome (RTT)4--see VAR_0181902 K E mis40--------
    VAR_0235524
    Rett syndrome (RTT)4--see VAR_0235522 D E mis40--------
    VAR_0102764
    Rett syndrome (RTT)4--see VAR_0102762 P R mis40--------
    VAR_0235584
    Rett syndrome (RTT)4--see VAR_0235582 G V mis40--------
    VAR_0181804
    Rett syndrome (RTT)4--see VAR_0181802 E Q mis40--------
    VAR_0102784
    Rett syndrome (RTT)4--see VAR_0102782 S C mis40--------

    HapMap Linkage Disequilibrium report for MECP2 (153287024 - 153402578 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MECP2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv517994CNV Gain19592680
    nsv519042CNV Gain19592680
    esv33199CNV Gain+Loss17666407
    esv33784CNV Gain+Loss17666407


    Human Gene Mutation Database (HGMD): MECP2

    Locus Specific Mutation Databases (LSDB): MECP2
    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array containing MECP2:
    Intellectual Disability
    SeqTarget long-range PCR primers for resequencing MECP2
    DNA2.0 Custom Variant and Variant Library Synthesis for MECP2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300005   
    OMIM disorders: 312750  300055  300673  300496  105830  300260  
    UniProtKB/Swiss-Prot: MECP2_HUMAN, P51608
  • 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. 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 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.
    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. 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. 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. 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 adaptative 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. 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

  • 20/75 diseases for MECP2 (see all 75):    About MalaCards
    rett syndrome    classic rett syndrome    mecp2 duplication syndrome    atypical rett syndrome
    mecp2-related disorders    ppm-x syndrome    mental retardation progressive spasticity    autism susceptibility, x-linked 3
    mecp2-related angelman-like syndrome    lubs x-linked mental retardation syndrome    encephalopathy, neonatal severe    rett syndrome, preserved speech variant
    bruxism    pervasive developmental disorder    infantile hypotonia    language disorder
    gait apraxia    asperger syndrome    mental retardation    mental retardation, x-linked

    6 diseases from the University of Copenhagen DISEASES database for MECP2:
    Rett syndrome     Intellectual disability     Autistic disorder     Angelman syndrome
    Microcephaly     Gait apraxia

    MECP2 for disorders           About GeneDecksing

    10/46 Novoseek inferred disease relationships for MECP2 gene (see all 46)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rett syndrome 99 776 19652677 (8), 14649549 (5), 18174559 (5), 17986102 (5) (see all 99)
    mental retardation 83.3 147 17084570 (4), 19806472 (4), 15814190 (4), 20163734 (4) (see all 78)
    encephalopathy neonatal 79.9 17 12719401 (2), 11930274 (2), 19559301 (2), 12447790 (1) (see all 13)
    angelman syndrome 79 19 15866439 (2), 15578581 (2), 11283202 (1), 14734626 (1) (see all 16)
    autistic 77 41 12770674 (4), 17427193 (3), 11464249 (3), 12707946 (3) (see all 23)
    severe mental retardation 72.3 13 18985075 (2), 12447790 (1), 16080119 (1), 11262731 (1) (see all 10)
    microcephaly 69 10 15939091 (1), 17936729 (1), 20142466 (1), 19090026 (1) (see all 8)
    pervasive developmental disorder 66 8 12027529 (1), 14734626 (1), 19189931 (1), 12555243 (1) (see all 5)
    neurological disorders 61.4 28 11242118 (1), 12928486 (1), 14529314 (1), 16354910 (1) (see all 20)
    infantile spasms 60.4 2 16806828 (1), 20397747 (1)

    GeneTests: MECP2
    GeneReviews: MECP2
    Genetic Association Database (GAD): MECP2
    Human Genome Epidemiology (HuGE) Navigator: MECP2 (78 documents)

    Export disorders for MECP2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MECP2 gene, integrated from 9 sources (see all 682):
    (articles sorted by number of sources associating them with MECP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. (PubMed id 10508514)1, 2, 3, 9 Amir R.E....Zoghbi H.Y. (1999)
    2. Low frequency of MECP2 mutations in mentally retarded males. (PubMed id 12111644)1, 2, 4 Yntema H.G....van Bokhoven H. (2002)
    3. Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. (PubMed id 11055898)1, 2, 4 Buyse I.M.... Roa B.B. (2000)
    4. Variants within MECP2, a key transcription regulator, are associated with increased susceptibility to lupus and differential gene expression in patients with systemic lupus erythematosus. (PubMed id 19333917)1, 4, 9 Webb R....Sawalha A.H. (2009)
    5. Spectrum of MECP2 mutations in New Zealand Rett syndr ome patients. (PubMed id 19652677)1, 4, 9 Raizis A.M....George P.M. (2009)
    6. Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome. (PubMed id 18842453)1, 4, 9 Buoni S....Hayek J. (2008)
    7. [Methyl-CpG-binding protein 2 gene and CDKL5 gene mut ation in patients with Rett syndrome: analysis of 177 Chinese pediatric patient s] (PubMed id 19552836)1, 4, 9 Li M.R....Wu X.R. (2009)
    8. Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. (PubMed id 18985075)1, 4, 9 Lugtenberg D....de Brouwer A.P. (2008)
    9. MECP2 mutation analysis in patients with mental retardation. (PubMed id 15578581)1, 4, 9 Ylisaukko-Oja T....Jarvela I. (2005)
    10. The A140V mutation in the MECP2 gene is not a common etiological factor among Brazilian mentally retarded males. (PubMed id 15814190)1, 4, 9 dos Santos J.M....Pimentel M.M. (2005)

    (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)

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

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MECP2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MECP2 Genetics and Cytogenetics in Oncology and Haematology
    RettBASEhttp://mecp2.chw.edu.au/mecp2/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MECP2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MECP2 gene:
    Search GeneIP for patents involving MECP2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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