MECP2 Gene
protein-coding GIFtS: 66
GCID: GC0XM153287
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methyl CpG binding protein 2 (Rett syndrome)(Previous names: mental retardation, X-linked 16, mental retardation, X-linked...)
(Previous symbols: RTT, MRX16, MRX79)
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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: | |
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| NONCODE:n337397 | |
Export aliases for MECP2 gene to outside databasesPrevious 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 eachof a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of bindingspecifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. Incontrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stemcells, 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, P51608Function: Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It isnot influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction withhistone 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
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: Xq28MECP2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome X GeneLoc Exon Structure GeneLoc location for GC0XM153287: view genomic region
(about GC identifiers)
Start:
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153,287,024 bp from pter |
End:
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153,402,578 bp from pter |
Size:
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115,555 bases |
Orientation:
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minus strand |
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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 Q7Z384Alternative 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 toregulate dendritic growth and spine maturation (By similarity)1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P51608
MECP2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001104262.1 NP_004983.1
ENSEMBL proteins: ENSP00000301948 ENSP00000395535 ENSP00000384865 ENSP00000358973 ENSP00000416267
Human Recombinant Protein Products:
Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table
MECP2 for ontologies About GeneDecksing
MECP2 Antibody Products:
Assay Products 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:Graphical View of Domain Structure for InterPro Entry P51608ProtoNet protein and cluster: P51608 1 Blocks protein family: IPB001739 Methyl-CpG binding
UniProtKB/Swiss-Prot: MECP2_HUMAN, P51608Similarity: Contains 2 A.T hook DNA-binding domainsSimilarity: 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,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: MECP2_HUMAN, P51608Function: Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It isnot influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction withhistone 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 cytosineresidues in symmetrically positioned GpG dinucleotides,preferentially in the promoter regions of genes subject totranscriptional silencing after DNA methylation,interacting with histone deacetylase and the transcriptionalcorepressor SIN3A,involved in the regulation of gene expression
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MECP2 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MECP2 (see all 2)
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) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MECP2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MECP2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MECP2 |
Gene Ontology (GO): 5/17 molecular function terms (GO ID links to tree view) (see all 17): About this table
MECP2 for ontologies About GeneDecksing
Animal Models:
Mouse knock-outs for MECP2: Mecp2tm1Pplt Mecp2tm1.1Jae Mecp2tm1Jchr Mecp2tm1Hzo Mecp2tm1.1Bird
15/17 MGI mutant phenotypes (inferred from 20 alleles ) (MGI details for Mecp2) (see all 17):
MECP2 for phenotypes About GeneDecksing
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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-pathway | contained gene-specific pathways |
|---|
| 1 | Neuroscience | | | 2 | SIDS Susceptibility Pathways | | | 3 | DNA Methylation and Transcriptional Repression | | | 4 | Chromatin Regulation / Acetylation | | | 5 | GABA A receptor activation | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for MECP2
1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for MECP2
2 
Cell Signaling Technology (CST) Pathways for MECP2
1  BioSystems Pathway for MECP2
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)About this table
Gene Ontology (GO): 5/57 biological process terms (GO ID links to tree view) (see all 57): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000122 | negative regulation of transcription from RNA polymerase II promoter |
TAS | 9620804 | | GO:0001662 | behavioral fear response |
IEA | -- | | GO:0001666 | response to hypoxia |
IEA | -- | | GO:0001964 | startle response |
IEA | -- | | GO:0001976 | neurological system process involved in regulation of systemic arterial blood pressure |
IEA | -- |
MECP2 for ontologies About GeneDecksing
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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 Tocris compounds for MECP2
10/18 Novoseek chemical compound relationships for MECP2 gene (see all 18) About this table
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,
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, HQ15462914 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
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MECP2 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MECP2 (see all 2)
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 |
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 |
|---|
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| 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
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, P51608Tissue specificity: Present in all adult somatic tissues tested
SABiosciences Expression via Pathway-Focused PCR Array including MECP2:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MECP2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MECP2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MECP2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MECP2 | 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr X pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
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