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

MECP2 Gene

protein-coding   GIFtS: 66
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)
 Explore 75 diseases affiliated with
MECP2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MECP2    

Aliases
for MECP2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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:         
NONCODE:n337397    

Export aliases for MECP2 gene to outside databases

Previous GC identifers: GC0XM147424 GC0XM149742 GC0XM150872 GC0XM151755 GC0XM152808 GC0XM152940 GC0XM141928


Summaries
for MECP2 gene

(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:
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)

UniProtKB/Swiss-Prot: MECP2_HUMAN, P51608
Function: Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is
not influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction with
histone deacetylase and the corepressor SIN3A

Gene Wiki entry for MECP2


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_167198.1  
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

Proteins
for MECP2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

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 modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P51608

    • MECP2 Protein expression data from MOPED and PaxDb:    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: 
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    Novus Biologicals MECP2 Proteins
    Novus Biologicals MECP2 Lysates
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    ProSpec Recombinant Protein for MECP2
    Uscn Proteins for MECP2

    Gene Ontology (GO): 6 cellular component terms (GO ID links to tree view) (see first 5):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin ----
    GO:0000792heterochromatin IDA11441023
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IEA--
    GO:0005829cytosol ----
    GO:0043234protein complex ----

    MECP2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for MECP2

    Protein Domains /
    Families
    for MECP2 gene

    (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


    Function
    for MECP2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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): 5/17 molecular function terms (GO ID links to tree view) (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000400four-way junction DNA binding ----
    GO:0003677DNA binding TAS9620804
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0003714transcription corepressor activity TAS10773092
         
    MECP2 for ontologies           About GeneDecksing


    Phenotypes:
         15/17 MGI mutant phenotypes (inferred from 20 alleles) (MGI details for Mecp2) (see all 17):
     adipose tissue  behavior/neurological  cellular  craniofacial  embryogenesis 
     endocrine/exocrine gland  growth/size  hearing/vestibular/ear  homeostasis/metabolism  integument 
     mortality/aging  nervous system  no phenotypic analysis  normal  reproductive system 

    MECP2 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-outs for MECP2: Mecp2tm1Pplt Mecp2tm1.1Jae Mecp2tm1Jchr Mecp2tm1Hzo Mecp2tm1.1Bird
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions 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)

    OriGene 3'-UTR Clone (see all 2): MECP2
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    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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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MECP2 (see all 7)
    OriGene shRNA RFP: MECP2
    OriGene siRNA: MECP2
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    Sirion Biotech Custom design and validation of potent shRNA sequences against MECP2 

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of MECP2 
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    Clone
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    Cell Line
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    In Situ Assay
    Products:       
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    Pathways & Interactions
    for MECP2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Neuroscience
    		Neuroscience1.00
    2SIDS Susceptibility Pathways
    		SIDS Susceptibility Pathways1.00
    3DNA Methylation and Transcriptional Repression
    		DNA Methylation and Transcriptional Repression1.00
    4Chromatin Regulation / Acetylation
    		Chromatin Regulation / Acetylation1.00
    5GABA A receptor activation
    		GABA signaling in brain0.26

    Pathway sources
    See GeneCards unified pathways
    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)

    5/53 Interacting proteins for MECP2 (P516081, 2, 3 ENSP000003955354) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    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 
    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



    Drugs & Compounds
    for MECP2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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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    Browse Tocris compounds for MECP2
    10/18 Novoseek 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 

    Transcripts
    for MECP2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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.731393
    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
    ENST00000415944 ENST00000488293 ENST00000463644 ENST00000460227 ENST00000481807
    ENST00000480620

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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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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 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):

    AI955326 AW407215 BM671070 BM263171 BM967227 AY541280 AA543089 Z41666 
    BU902034 CA436384 CR612728 R09924 BQ027224 BG741923 BC031833 AF158180 
    AA283823 CD516820 BM696151 AI224490 AI278296 AA351289 CB242738 BU621700 

    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

    Expression
    for MECP2 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCAAGGCCAA
    MECP2 Expression
    About this image
    See MECP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MECP2

    SOURCE GeneReport for Unigene clusters: Hs.200716 Hs.731393

    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

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MECP2

    Orthologs
    for MECP2 gene

    (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 4/12 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 90.89(n)1
    95.75(a)1    		   X (37.63 cM)5
    172571  NM_001081979.11  NP_001075448.11 
     740265925 
    lizard
    (Anolis carolinensis)    		 Reptilia MECP26
    		 --
    		 72(a)
    		 1 ↔ 1
    		 2(88474297-88482950)
    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
    for MECP2 gene

    (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



    Genomic Variants
    for MECP2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1326 NCBI SNPs in MECP2 are shown (see all 1326)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048948641,2
    		Cpathogenic153295916(-) GAGGGG/TAGGGA 4 E * stg10--------
    rs617539711,2
    		Cpathogenic153295997(-) GCGACA/GGCTGC 4 S G mis10--------
    rs617539651,2
    		Cpathogenic153296063(-) AGCCCC/TAGGAC 4 Q * stg10--------
    rs617514491,2
    		Cpathogenic153296315(-) TGAAGC/G/TCCCTG 6 P A S mis10--------
    rs617513621,2
    		Cpathogenic153296399(-) CTATCC/TGATCT 4 R * stg10--------
    rs617502401,2
    		Cpathogenic153296471(-) GGGGCC/G/TGAAAG 6 R G * mis1 stg10--------
    rs617497151,2
    		Cpathogenic153296605(-) GATGCC/G/TTTTTC 6 P R L mis10--------
    rs1793639001,2
    		Cpathogenic153296825(-) TGGACC/GCTAAT 4 P A mis10--------
    rs289349081,2
    		Cpathogenic153296860(-) GATTGC/TGTACT 4 A V mis1 ese32Minor allele frequency- T:0.00NA 4
    rs617483921,2
    		Cpathogenic153296869(-) AGTGGA/GGTTGA 4 E G mis10--------

    HapMap Linkage Disequilibrium report for MECP2 (153287024 - 153402578 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for MECP2: --
    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
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MECP2
    DNA2.0 Custom Variant and Variant Library Synthesis for MECP2

    Disorders / Diseases
    for MECP2 gene

    (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.)
    About This Section
    MECP2 for disorders           About GeneDecksing

    OMIM gene information: 300005   
    OMIM 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 encephalopathy neonatal severe due to MECP2 mutations (ENS-MECP2)
    • [MIM:300673]. Note=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

    20/75 diseases for MECP2 (see all 75):    About MalaCards
    mental retardation, x-linked    rett syndrome    rett syndrome, preserved speech variant    autism susceptibility, x-linked 3
    mental retardation, x-linked syndromic    x inactivation    attention deficit hyperactivity disorder    pervasive developmental disorder
    ppm-x syndrome    prader-willi syndrome    encephalopathy, neonatal severe    spinal muscular atrophy
    progressive multifocal leukoencephalopathy    fragile x syndrome    mental retardation progressive spasticity    language disorder
    classic rett syndrome    developmental disabilities    bruxism    asperger syndrome

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

    10/46 Novoseek 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
    MECP2-Related Disorders
    MECP2 Duplication Syndrome

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

    Export disorders for MECP2 gene to outside databases

    Publications
    for MECP2 gene

    (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 651):
    (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. MECP2 mutation analysis in patients with mental retardation. (PubMed id 15578581)1, 4, 9 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, 9 dos Santos J.M....Pimentel M.M. (2005)
    6. MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications. (PubMed id 14529314)1, 4, 9 Bourdon V....Jonveaux P. (2003)
    7. Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation. (PubMed id 12966522)1, 2, 9 Hammer S.... Schanen N.C. (2003)
    8. MECP2 is highly mutated in X-linked mental retardation. (PubMed id 11309367)1, 2, 9 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, 9 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, 9 Kriaucionis S. and Bird A. (2004)

    External Searches for MECP2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing MECP2 gene

    (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

    Other Databases showing MECP2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MECP2 gene

    (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

    Intellectual Property
    for MECP2 gene

    (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:
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