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MECP2 Gene

protein-coding   GIFtS: 68
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 MECP2-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)
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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   

Export aliases for MECP2 gene to outside databases

Previous GC identifers: GC0XM147424 GC0XM149742 GC0XM150872 GC0XM151755 GC0XM152808 GC0XM152940 GC0XM141928


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. Diseases associated with MECP2 include autism susceptibility, x-linked 3, and bruxism. 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. Binds both 5-methylcytosine (5mC) and
5-hydroxymethylcytosine (5hmC)-containing DNA, with a preference for 5-methylcytosine (5mC) (By similarity)

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NT_011681.17  NC_018934.2  
Regulatory elements:
   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 Chromatin IP Primers for MECP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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:
153,363,212 bp from pter
Size:
76,189 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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: 

  • 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
  • Ubiquitination2 at Lys130
  • Modification sites at PhosphoSitePlus

  • See MECP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000301948   ENSP00000395535   ENSP00000384865   ENSP00000358973   ENSP00000416267  

    MECP2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for MECP2
    OriGene Custom MassSpec
    OriGene Custom Protein Services for MECP2
    GenScript Custom Purified and Recombinant Proteins Services for MECP2
    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

     
    Search eBioscience for Proteins for MECP2 

    MECP2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of MECP2
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for MECP2 
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    Novus Biologicals MECP2 Antibodies
    Abcam antibodies for MECP2
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    ThermoFisher Antibody for MECP2
    LSBio Antibodies in human, mouse, rat for MECP2

    MECP2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for MECP2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MECP2
    Cloud-Clone Corp. CLIAs for MECP2
    Search eBioscience for ELISAs for MECP2 


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

    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


    Find genes that share domains with MECP2           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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. Binds both 5-methylcytosine (5mC) and
    5-hydroxymethylcytosine (5hmC)-containing DNA, with a preference for 5-methylcytosine (5mC) (By similarity)

         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): Selected molecular function terms (see all 13):    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--
         
    Find genes that share ontologies with MECP2           About GenesLikeMe


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 24 alleles(MGI details for Mecp2) (see all 20):
     adipose tissue  behavior/neurological  cellular  craniofacial  embryogenesis 
     endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  homeostasis/metabolism  immune system 
     integument  liver/biliary system  mortality/aging  nervous system  no phenotypic analysis 

    Find genes that share phenotypes with MECP2           About GenesLikeMe

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MECP2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MECP2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MECP2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MECP2

    miRNA
    Products:
        
    miRTarBase miRNAs that target MECP2:
    hsa-mir-155-5p (MIRT000442), hsa-mir-148b-3p (MIRT019389), hsa-mir-212-3p (MIRT003897), hsa-mir-124-3p (MIRT007282), hsa-mir-122-5p (MIRT003089), hsa-mir-19a-3p (MIRT001795), hsa-mir-199a-3p (MIRT000779), hsa-mir-92a-3p (MIRT049717), hsa-mir-425-3p (MIRT042431), hsa-mir-195-5p (MIRT000795), hsa-mir-802 (MIRT000441), hsa-mir-199a-5p (MIRT004395), hsa-mir-331-3p (MIRT043437)

    Block miRNA regulation of human, mouse, rat MECP2 using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for MECP2
    Predesigned siRNA for gene silencing in human, mouse, rat MECP2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MECP2

    Clone
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    OriGene clones in human, mouse for MECP2 (see all 12)
    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
    Addgene plasmids for MECP2 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for MECP2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MECP2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MECP2_HUMAN, P51608: Nucleus. Note=Colocalized with methyl-CpG in the genome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    cytoskeleton1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000792heterochromatin IDA11441023
    GO:0005615extracellular space IDA--
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm ----
    GO:0005829cytosol IEA--

    Find genes that share ontologies with MECP2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for MECP2 About    
    See pathways by source

    SuperPathContained pathways About
    1GABA signaling in brain
    GABA signaling in brain0.32
    2Macrophage Differentiation and Growth Inhibition by METS
    DNA Methylation and Transcriptional Repression0.30
    3SIDS Susceptibility Pathways
    SIDS Susceptibility Pathways
    4Neuroscience
    Neuroscience
    5Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation


    Find genes that share SuperPaths with MECP2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe 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



        Pathway & Disease-focused RT2 Profiler PCR Array including MECP2: 
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MECP2

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

    Selected Interacting proteins for MECP2 (P516081, 2, 3 ENSP000003955354) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIPK2Q9H2X61, 2, 3EBI-1189067,EBI-348345 MINT-7308929 MINT-7308914 I2D: score=1 
    SMARCA2P515311, 3, ENSP000002657734EBI-1189067,EBI-679562 I2D: score=5 STRING: ENSP00000265773
    HIST2H3AQ71DI33, ENSP000003854794I2D: score=1 STRING: ENSP00000385479
    HIST2H3CQ71DI33I2D: score=1 
    HIST2H3DQ71DI33I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 56):    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--

    Find genes that share ontologies with MECP2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MECP2

    Selected 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)



    Find genes that share compounds with MECP2           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MECP2 gene (2 alternative transcripts): 
    NM_001110792.1  NM_004992.3  

    Unigene Cluster for MECP2:

    Methyl CpG binding protein 2 (Rett syndrome)
    Hs.200716  [show with all ESTs]
    Unigene Representative Sequence: GQ203295
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000303391(uc004fjv.2 uc004fjw.2) ENST00000453960 ENST00000407218
    ENST00000486506 ENST00000369957 ENST00000496908 ENST00000481807 ENST00000463644
    ENST00000460227 ENST00000415944 ENST00000488293
    miRNA
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    Block miRNA regulation of human, mouse, rat MECP2 using miScript Target Protectors
    Selected qRT-PCR 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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    Inhib. RNA
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): MECP2 (NM_004992)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MECP2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MECP2
    Addgene plasmids for MECP2 
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MECP2
      QuantiTect SYBR Green Assays in human, mouse, rat MECP2
      QuantiFast Probe-based Assays in human, mouse, rat MECP2

    Additional mRNA sequence: 

    AB209464.1 AF158180.1 AJ132917.1 AK289444.1 AY541280.1 BC011612.1 BX538060.1 DQ656049.2 
    GQ203293.1 GQ203294.1 GQ203295.1 GQ896382.1 GU479943.1 GU812285.1 GU812286.1 HM020402.1 
    HM156732.1 HM156733.1 HQ127345.1 HQ141377.1 HQ141378.1 L37298.1 X89430.1 X99686.1 
    Y12643.1 

    13 DOTS entries:

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

    Selected AceView cDNA sequences (see all 269):

    BI821242 BM850695 BU621700 CA436384 BM696151 CK821012 AI955326 BQ681323 
    BU679576 AL157555 AI439398 R09924 CD516820 AA888593 BU678549 BX509998 
    BC011612 CB242738 AA351289 BM986904 BQ067965 BG741923 N26870 AA543089 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MECP2 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Peripheral blood-derived hematopoietic stem cells (family)
     
     Bone (Muscoskeletal System)
             Bone Marrow
    MECP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MECP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.200716

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

        Pathway & Disease-focused RT2 Profiler 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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MECP2 gene from Selected species (see all 12)    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 90.15(n)1
    94.83(a)1
      X (37.63 cM)5
    172571  NM_010788.31  NP_034918.11 
     740265925 
    lizard
    (Anolis carolinensis)
    Reptilia MECP26
    methyl CpG binding protein 2 (Rett syndrome)
    66(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)
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    Paralogs for MECP2 gene
    MBD42  
    1 SIMAP similar gene for MECP2 using alignment to 17 protein entries:     MECP2_HUMAN (see all proteins):
    MBD4

    Find genes that share paralogs with MECP2           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MECP2 (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
    ----------
    rs289354681,2,,4
    CRett syndrome (RTT)4 pathogenic1153164502(-) AGAAGC/TGCAAG 6 R C mis1 ese32Minor allele frequency- T:0.00NA 4
    rs289349061,2,,4
    CRett syndrome (RTT)4 pathogenic1153164945(-) CTTCAC/TGGTAA 6 T M mis1 ese32Minor allele frequency- T:0.00NA 4
    rs289349051,2,,4
    CRett syndrome (RTT)4 pathogenic1153164954(-) TGATTC/G/TTGACT 9 S C F mis10--------
    rs289349081,2,,4
    CMental retardation, X-linked, syndromic, 13 (MRXS13)4 pathogenic1153164999(-) GATTGC/TGTACT 6 A V mis1 ese30--------
    rs289349041,2,,4
    CRett syndrome (RTT)4 pathogenic1153165021(-) CCTTTC/G/TGCTCT 9 R G C mis12NA 4
    rs289349071,2,,4
    CRett syndrome (RTT)4 pathogenic1153165858(-) GGACAC/G/TGGAAG 9 R G W mis1 ese32NA 4
    rs289351681,2,,4
    CRett syndrome (RTT)4 pathogenic1153165876(-) CCACCC/GTGCCT 6 L V mis1 ese30--------
    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--------

    HapMap Linkage Disequilibrium report for MECP2 (153287024 - 153363212 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

    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing MECP2:
    Intellectual Disability
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    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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 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.
    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 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. 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

  • Selected diseases for MECP2 (see all 29):    
    About MalaCards
    autism susceptibility, x-linked 3    bruxism    mecp2-related angelman-like syndrome    atypical rett syndrome
    rett syndrome    mental retardation, x-linked syndromic, lubs type    mecp2-related disorders    classic rett syndrome
    mecp2 duplication syndrome    lubs x-linked mental retardation syndrome    encephalopathy, neonatal severe    ppm-x syndrome
    infantile hypotonia    pervasive developmental disorder    rett syndrome, preserved speech variant    asperger syndrome
    angelman syndrome    alpha-thalassemia/mental retardation syndrome    gait apraxia    epileptic encephalopathy, early infantile, 2

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

    Find genes that share disorders with MECP2           About GenesLikeMe

    Selected 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), 11896459 (4), 16829352 (4), 10944854 (4), 11245712 (4), 15367913 (4), 18190595 (4), 15548931 (3), 11262731 (3), 15675358 (3), 16647997 (3), 15526954 (3), 11432961 (3), 19017163 (3), 16690727 (3), 18174548 (3), 11913567 (3), 11960578 (3), 11738883 (3), 20376788 (3), 11453972 (3), 16647848 (3), 16549272 (3), 12770674 (3), 11005791 (3), 10852707 (3), 20139413 (3), 18337588 (3), 16183801 (3), 19562714 (3), 15070486 (3), 12966522 (3), 12707946 (3), 11738866 (3), 16225827 (3), 15791137 (3), 11058114 (3), 11071498 (2), 12872251 (2), 12655490 (2), 15633890 (2), 18334558 (2), 18842453 (2), 17701895 (2), 15757975 (2), 15057977 (2), 15034579 (2), 14529314 (2), 12928486 (2), 12727440 (2), 11269512 (2), 16630165 (2), 16672765 (2), 12160743 (2), 11738865 (2), 11738860 (2), 11376998 (2), 10986043 (2), 10508514 (2), 17317146 (2), 12180070 (2), 11913564 (2), 11805248 (2), 11571704 (2), 11532982 (2), 10826991 (2), 20425824 (2), 20025874 (2), 18600331 (2), 17387578 (2), 15737703 (2), 15056664 (2), 15000811 (2), 11746022 (2), 11371345 (2), 20384458 (2), 19319913 (2), 18032561 (2), 16225826 (2), 15866439 (2), 15115765 (2), 14974082 (2), 14536082 (2), 12170461 (2), 16473305 (2), 16254496 (2), 15841480 (2), 16086395 (2), 12418965 (2), 12325033 (2), 11955928 (2), 11755104 (2), 11402105 (2), 11738863 (2), 10737989 (2), 17965612 (2) (see top 4)
    mental retardation 83.3 147 17084570 (4), 19806472 (4), 15814190 (4), 20163734 (4), 18985075 (3), 15704871 (3), 16879196 (2), 14529314 (2), 11885030 (2), 18688080 (2), 14560307 (2), 11007980 (2), 17088400 (2), 17296936 (2), 16647848 (2), 15578581 (2), 11805248 (2), 11309367 (2), 17383248 (2), 18321864 (2), 16613900 (2), 18773074 (2), 12616684 (1), 16506134 (1), 18678449 (1), 10814718 (1), 11262731 (1), 15056664 (1), 12843318 (1), 20399386 (1), 19012748 (1), 19090026 (1), 17427193 (1), 16376510 (1), 16225824 (1), 12555243 (1), 20082459 (1), 19489441 (1), 18032561 (1), 16987873 (1), 15967618 (1), 19208815 (1), 17965627 (1), 16690727 (1), 16510438 (1), 17172942 (1), 17046689 (1), 16122633 (1), 12750821 (1), 12535940 (1), 12325019 (1), 11836365 (1), 17823918 (1), 12384770 (1), 11913564 (1), 16763963 (1), 16254496 (1), 14598336 (1), 19844254 (1), 20425298 (1), 20098342 (1), 19057379 (1), 18165974 (1), 16118346 (1), 12624134 (1), 11896461 (1), 10986043 (1), 10508514 (1), 17171659 (1), 15857580 (1), 15211631 (1), 11807877 (1), 11242118 (1), 20397747 (1), 19189931 (1), 18948693 (1), 15549394 (1), 16080119 (1) (see top 4)
    encephalopathy neonatal 79.9 17 12719401 (2), 11930274 (2), 19559301 (2), 12447790 (1), 14529314 (1), 15211631 (1), 20425298 (1), 16647848 (1), 11180222 (1), 17351020 (1), 20098342 (1), 16225824 (1), 11262731 (1) (see top 4)
    angelman syndrome 79 19 15866439 (2), 15578581 (2), 11283202 (1), 14734626 (1), 16451131 (1), 16225824 (1), 14560307 (1), 17486179 (1), 15796126 (1), 12210319 (1), 11238684 (1), 15615769 (1), 19174478 (1), 14981718 (1), 17965613 (1), 15689352 (1) (see top 4)
    autistic 77 41 12770674 (4), 17427193 (3), 11464249 (3), 12707946 (3), 17562589 (2), 17413451 (2), 19174478 (2), 12616684 (1), 16263320 (1), 15121991 (1), 18174559 (1), 17046689 (1), 15070486 (1), 12535940 (1), 16418599 (1), 16647848 (1), 12384770 (1), 19125863 (1), 11106359 (1), 20425814 (1), 19132145 (1), 12555243 (1), 17052801 (1) (see top 4)
    severe mental retardation 72.3 13 18985075 (2), 12447790 (1), 16080119 (1), 11262731 (1), 20513142 (1), 17088400 (1), 15689435 (1), 10986043 (1), 11521215 (1), 12843318 (1) (see top 4)
    microcephaly 69 10 15939091 (1), 17936729 (1), 20142466 (1), 19090026 (1), 10508514 (1), 11960578 (1), 15875198 (1), 17276711 (1) (see top 4)
    pervasive developmental disorder 66 8 12027529 (1), 14734626 (1), 19189931 (1), 12555243 (1), 18302128 (1) (see top 4)
    neurological disorders 61.4 28 11242118 (1), 12928486 (1), 14529314 (1), 16354910 (1), 18631120 (1), 18773074 (1), 15056664 (1), 10986043 (1), 12418965 (1), 17998807 (1), 17351020 (1), 17965612 (1), 14649548 (1), 15351775 (1), 16647848 (1), 14618241 (1), 17439480 (1), 17619776 (1), 19427855 (1), 19851857 (1) (see top 4)
    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)
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    PubMed articles for MECP2 gene, integrated from 10 sources (see all 698):
    (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. (Nat. Genet. 1999)
    2. Low frequency of MECP2 mutations in mentally retarded males. (PubMed id 12111644)1, 2, 4 Yntema H.G....van Bokhoven H. (Eur. J. Hum. Genet. 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. (Am. J. Hum. Genet. 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. (Arthritis Rheum. 2009)
    5. Spectrum of MECP2 mutations in New Zealand Rett syndrome patients. (PubMed id 19652677)1, 4, 9 Raizis A.M....George P.M. (N. Z. Med. J. 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. (Clin Neurophysiol 2008)
    7. [Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients]. (PubMed id 19552836)1, 4, 9 Li M.R....Wu X.R. (Zhonghua Yi Xue Za Zhi 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. (Eur. J. Hum. Genet. 2009)
    9. MECP2 mutation analysis in patients with mental retardation. (PubMed id 15578581)1, 4, 9 Ylisaukko-Oja T....JAorvelAo I. (Am. J. Med. Genet. A 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. (Neurosci. Lett. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 4204 HGNC: 6990 AceView: MECP2 Ensembl:ENSG00000169057 euGenes: HUgn4204
    ECgene: MECP2 H-InvDB: MECP2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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/books/NBK1116/?term=MECP2[genesymbol]

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    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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