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MECP2 Gene

protein-coding   GIFtS: 67

GC0XM141928
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)
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
methyl CpG binding protein 2 (Rett syndrome)1 2     mental retardation, X-linked 161
MeCp-2 protein2 3     mental retardation, X-linked 791
AUTSX32 5     mutant methyl CpG binding protein 2 transcript 12
MRXS132 5     RS2
MRXSL2 5     methyl-CpG-binding protein 22
RTT2 5     DKFZp686A241602
PPMX2 5     OTTHUMP000001998212
MRX792 5     RTS2
MRX162 5     MeCp23

External Ids:    HGNC: 69901   Entrez Gene: 42042   Ensembl: ENSG000001690577   UniProtKB: P516083   

Export aliases for MECP2 gene to outside databases

Previous GC identifers: GC0XM147424 GC0XM149742 GC0XM150872 GC0XM151755 GC0XM152808 GC0XM152940 GC0XM153287


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

Entrez Gene 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 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)

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

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MECP2 gene promoter:
         NRSF form 1   NRSF form 2   TBP   C/EBPalpha   IRF-1   Sp1   STAT5A   TFIID   LUN-1   E4BP4   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for MECP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 


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 gene densities for chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM141928:  view genomic region     (about GC identifiers)

Start:
141,928,231 bp from pter
End:
142,007,659 bp from pter
Size:
79,429 bases
Orientation:
minus strand

1 alternative location:
ChrX- 153,287,024-153,402,578     
RefSeq DNA sequence:
NC_000023.10  NT_167198.1  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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;
PDB structure from and Proteopedia :
1QK9 (3D)    3C2I (3D)    
Secondary accessions: O15233 Q6QHH9 Q7Z384
Alternative splicing: 2 isoforms:  P51608-1   P51608-2   

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

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: 
    ENSP00000301948 ENSP00000395535 ENSP00000384865 ENSP00000358973 ENSP00000416267 ENSP00000358981 


    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
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: MECP2
    GenScript Custom Purified and Recombinant Proteins Services for MECP2 
    Novus Biologicals Proteins for MECP2
    Novus Biologicals Lysates for MECP2
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    5/6 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 6):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790 nuclear chromatin ----
    GO:0000792 heterochromatin IDA11441023
    GO:0005634 nucleus IDA18029348
    GO:0005737 cytoplasm ----
    GO:0005829 cytosol ----
    About this table

    MECP2 for ontologies           About GeneDecksing



    Antibodies for MECP2: 
    Millipore Mono- and Polyclonal Antibodies for the study of MECP2
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for MECP2 
    Browse OriGene Antibodies
    GenScript Superior Antibodies for MECP2 
    Novus Biologicals Antibodies for MECP2
    Epitomics antibodies for MECP2

    Assays for MECP2: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MECP2 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for MECP2 


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    MECP2 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 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


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    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

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Browse siRNA at Sigma-Aldrich
    Browse shRNA at Sigma-Aldrich
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): MECP2
    OriGene shRNA RFP (see all 2): MECP2
    OriGene basic RS shRNA (see all 2): MECP2
    OriGene siRNA (see all 2): MECP2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of MECP2 
    miRNA:Browse microRNA Mimics at Sigma-Aldrich
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of MECP2 
    8/53 SABiosciences Assays for microRNAs that regulate MECP2 (see all 53):
    hsa-miR-548j hsa-miR-328 hsa-miR-199a-3p hsa-miR-374a hsa-miR-301a hsa-miR-766 hsa-miR-1184 hsa-miR-548a-5p

    Gene
    Editing:
    Sigma-Aldrich CompoZr Knockout ZFN for MECP2 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: MECP2
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): MECP2
    OriGene untagged cDNA clones in CMV expression vector (see all 2): MECP2
    OriGene 3'-UTR clone (see all 2): MECP2 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for MECP2 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for MECP2 

    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

    5/16 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 16):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000400 four-way junction DNA binding ----
    GO:0003677 DNA binding IEA--
    GO:0003700 sequence-specific DNA binding transcription factor activity ----
    GO:0003714 transcription corepressor activity TAS10773092
    GO:0003729 mRNA binding ----
    About this table

    MECP2 for ontologies           About GeneDecksing

    Animal Models: 15/16 MGI mutant phenotypes (inferred from 12 alleles(MGI details for Mecp2) (see all 16):

    adipose tissuebehavior/neurologicalcellularcraniofacialendocrine/exocrine gland
    growth/sizehearing/vestibular/earhomeostasis/metabolismlife span-post-weaning/agingnervous system
    no phenotypic analysisreproductive systemrespiratory systemskeletonskin/coat/nails

    MECP2 for phenotypes           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    MECP2 for pathways           About GeneDecksing

    1 Millipore Pathway for MECP2
        GABA signaling in brain

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

        SABiosciences Pathway-Focused PCR Array including MECP2: PAHS-086A 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for MECP2
        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MECP2

    5/11 Interacting proteins for MECP2 (P516081, 2 ENSP000003589733) via UniProtKB, MINT, and/or STRING (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMARCA2P515311EBI-1189067,EBI-679562
    HIPK2Q9H2X62MINT-7308929 MINT-7308914
    RBBP4ENSP000003625923STRING: ENSP00000362592
    SAP30ENSP000002965043STRING: ENSP00000296504
    SIN3BENSP000003691313STRING: ENSP00000369131
    About this table

    5/56 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 56):

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

    MECP2 for ontologies           About GeneDecksing



    (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

    MECP2 for compounds           About GeneDecksing

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

    Browse Tocris compounds for MECP2
    10/18 Novoseek chemical compound relationships for MECP2 gene (see all 18)
    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)
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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 Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Browse siRNA at Sigma-Aldrich
    Browse shRNA at Sigma-Aldrich
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): MECP2
    OriGene shRNA RFP (see all 2): MECP2
    OriGene basic RS shRNA (see all 2): MECP2
    OriGene siRNA (see all 2): MECP2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of MECP2 
    miRNA: Browse microRNA Mimics at Sigma-Aldrich
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of MECP2 
    8/53 SABiosciences Assays for microRNAs that regulate MECP2 (see all 53):
    hsa-miR-548j hsa-miR-328 hsa-miR-199a-3p hsa-miR-374a hsa-miR-301a hsa-miR-766 hsa-miR-1184 hsa-miR-548a-5p
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: MECP2
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): MECP2
    OriGene untagged cDNA clones in CMV expression vector (see all 2): MECP2
    OriGene 3'-UTR Clone (see all 2): MECP2 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for MECP2 
    Primers: OriGene genome-wide validated SYBR primer pairs: MECP2
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for MECP2: PPH07195A

    REFSEQ mRNAs for MECP2 gene (2 alternative transcripts): 

    NM_001110792.1  NM_004992.3  

    Additional cDNA sequence: 

    BC010531.1 DQ656051.2 HQ154629.1 

    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):

    N26870 NM_004992 BU902034 Z41666 CB528669 BU679576 BM263171 AI003203 
    R09924 AJ132917 BM893890 BX509998 AI475760 BI821242 BM671070 CA390138 
    CR598471 BM967227 AI381864 BG741923 BM715775 AI611806 AA594867 AI224490 

    highest scoring ESTs for MECP2:

    AJ132917 AF158180 AL703584 AY541280 BG422554 BI223414 BI517610 BI821242 BI857780 BQ049377 

    Unigene Clusters for MECP2:

    Methyl CpG binding protein 2 (Rett syndrome)
    Hs.200716  [show with all ESTs], Hs.568124  [show with all ESTs]
    Unigene Representative Sequences: GQ203295, HQ154629


    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
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000303391(uc004fjv.2 uc004fjw.2) ENST00000453960 ENST00000407218
    ENST00000486506 ENST00000369957 ENST00000496908 ENST00000464075 ENST00000495474
    ENST00000415944 ENST00000488293 ENST00000463644 ENST00000460227 ENST00000481807
    ENST00000480620 ENST00000369964

    (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 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    MECP2 expression in normal and diseased human tissues

    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

    MECP2 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    MECP2 gene expression
    MECP2 gene electronic northern expression
    MECP2 gene sage expression
    About these images

    CGAP SAGE TAG: CCAAGGCCAA

    SOURCE GeneReport for Unigene clusters: Hs.200716 Hs.568124

    Expression variation in blood from EXPOLDB for MECP2

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

    Primers: OriGene genome-wide validated SYBR primer pairs: MECP2
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for MECP2: PPH07195A
        SABiosciences Expression via Pathway-Focused PCR Array including MECP2: PAHS-086A 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, 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 (37.63 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 23)
    About this table        Species with no ortholog for MECP2

    ENSEMBL Gene Tree for MECP2 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for MECP2 gene
    MBD42  

    MECP2 for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/648 NCBI SNPs in MECP2 are shown (see all 648)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr X posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs174351,2
    C,F,O,A,H,153311980(+) AGACAA/TCCAAC 2 -- int117Minor allele frequency- T:0.47EU MN NS EA NA WA 1080
    rs9091311,2
    C153308227(+) AGATCA/GTGCCA 2 -- int13Minor allele frequency- G:0.00NA 5
    rs10428701,2
    C153296502(-) GAGGCC/TGACCC 4 A ref1 syn1 ese30--------
    rs10428731,2
    --153296123(-) CACCCC/TTGCCC 4 L ref1 syn1 ese30--------
    rs16163691,2
    C,A,153326464(+) gggccG/Atggag 2 -- int14Minor allele frequency- A:0.00NA WA 7
    rs16247661,2
    C,F,A,H,153317154(+) TGAGGT/CATATT 2 -- int114Minor allele frequency- C:0.47MN NA EA NS 966
    rs17347851,2
    C153302638(+) atataC/Tacaca 2 -- int10--------
    rs17347861,2
    --153321247(+) CTAGGA/GAAAAA 2 -- int1 trp30--------
    rs17347871,2
    C,F,O,A153325446(+) AGTACA/CTCTGT 2 -- int122Minor allele frequency- N:0.00NA EA MN NS 1718
    rs17347881,2
    --153328624(+) tccagC/Gctggg 2 -- int10--------
    About this table

    HapMap Linkage Disequilibrium images for MECP2 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for MECP2: --

    QIAGEN SeqTarget long-range PCR primers for resequencing MECP2 

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

    MECP2 for disorders           About GeneDecksing

    OMIM: 300005   disorders: 312750  300055  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 autism X-linked type 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
  • Defects in MECP2 are the cause of mental retardation syndromic X-linked Lubs type (MRXSL) [MIM:300260]. Mental
  • retardation is 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=Increased dosage of MECP2 due to gene
    duplication appears to be responsible for the mental retardation phenotype

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

    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)
    About this table

    GeneTests: MECP2
    MECP2 Duplication Syndrome

    Locus Specific Mutation Databases (LSDB): MECP2
    Human Gene Mutation Database (HGMD): MECP2
    Genetic Association Database (GAD): MECP2
    Human Genome Epidemiology (HuGE) Navigator: MECP2 (74 documents)

    Export disorders and mutations for MECP2 gene to outside databases

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

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

    10/574 PubMed articles for MECP2 gene, integrated from 7 sources (see all 574):
    (articles sorted by number of sources associating them with MECP2)
    1. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. (PubMed id 10508514)1, 2, 3, 7 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. MECP2 mutation analysis in patients with mental retardation. (PubMed id 15578581)1, 4, 7 Ylisaukko-Oja T....Jarvela I. (2005)
    5. The A140V mutation in the MECP2 gene is not a common etiological factor among Brazilian mentally retarded males. (PubMed id 15814190)1, 4, 7 dos Santos J.M....Pimentel M.M. (2005)
    6. MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications. (PubMed id 14529314)1, 4, 7 Bourdon V....Jonveaux P. (2003)
    7. Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation. (PubMed id 12966522)1, 2, 7 Hammer S.... Schanen N.C. (2003)
    8. MECP2 is highly mutated in X-linked mental retardation. (PubMed id 11309367)1, 2, 7 Couvert P.... Cherif B. (2001)
    9. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. (PubMed id 16080119)1, 2, 7 Van Esch H.... Froyen G. (2005)
    10. The major form of MeCP2 has a novel N-terminus generated by alternative splicing. (PubMed id 15034150)1, 2, 7 Kriaucionis S. and Bird A. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (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 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/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MECP2

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    Patent Information for MECP2 gene:
    Search GeneIP for patents involving MECP2

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