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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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0000790	nuclear chromatin	--	--
GO:0000792	heterochromatin	IDA	11441023
GO:0005634	nucleus	IDA	18029348
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 ID	Qualified GO term	Evidence	PubMed 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	TAS	10773092
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 tissue	behavior/neurological	cellular	craniofacial	endocrine/exocrine gland
growth/size	hearing/vestibular/ear	homeostasis/metabolism	life span-post-weaning/aging	nervous system
no phenotypic analysis	reproductive system	respiratory system	skeleton	skin/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 Central^TM Interacting Genes and Proteins Network for MECP2

5/11 Interacting proteins for MECP2 (P51608^{1, 2} ENSP00000358973³) via UniProtKB, MINT, and/or STRING (see all 11)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SMARCA2	P51531¹	EBI-1189067,EBI-679562
HIPK2	Q9H2X6²	MINT-7308929 MINT-7308914
RBBP4	ENSP00000362592³	STRING: ENSP00000362592
SAP30	ENSP00000296504³	STRING: ENSP00000296504
SIN3B	ENSP00000369131³	STRING: ENSP00000369131

About this table

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

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	--	--
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	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
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 electronic northern 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)	Mecp2^{1 , 5}	X (37.63 cM)⁵	methyl CpG binding protein 2^{1, 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

SNP ID	Valid	Chr X pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
rs17435^1,2	C,F,O,A,H,	153311980(+)	`AGACAA/TCCAAC`	2	--	int¹		17		EU MN NS EA NA WA	1080
rs909131^1,2	C	153308227(+)	`AGATCA/GTGCCA`	2	--	int¹		3		NA	5
rs1042870^1,2	C	153296502(-)	`GAGGCC/TGACCC`	4	A	ref¹ syn¹ ese³		0	--	--	--	--
rs1042873^1,2	--	153296123(-)	`CACCCC/TTGCCC`	4	L	ref¹ syn¹ ese³		0	--	--	--	--
rs1616369^1,2	C,A,	153326464(+)	`gggccG/Atggag`	2	--	int¹		4		NA WA	7
rs1624766^1,2	C,F,A,H,	153317154(+)	`TGAGGT/CATATT`	2	--	int¹		14		MN NA EA NS	966
rs1734785^1,2	C	153302638(+)	`atataC/Tacaca`	2	--	int¹		0	--	--	--	--
rs1734786^1,2	--	153321247(+)	`CTAGGA/GAAAAA`	2	--	int¹ trp³		0	--	--	--	--
rs1734787^1,2	C,F,O,A	153325446(+)	`AGTACA/CTCTGT`	2	--	int¹		22		NA EA MN NS	1718
rs1734788^1,2	--	153328624(+)	`tccagC/Gctggg`	2	--	int¹		0	--	--	--	--

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)

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)
Low frequency of MECP2 mutations in mentally retarded males. (PubMed id 12111644)^{1, 2, 4} Yntema H.G....van Bokhoven H. (2002)
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)
MECP2 mutation analysis in patients with mental retardation. (PubMed id 15578581)^{1, 4, 7} Ylisaukko-Oja T....Jarvela I. (2005)
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)
MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications. (PubMed id 14529314)^{1, 4, 7} Bourdon V....Jonveaux P. (2003)
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)
MECP2 is highly mutated in X-linked mental retardation. (PubMed id 11309367)^{1, 2, 7} Couvert P.... Cherif B. (2001)
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)
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)
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		AND	OR
Aliases
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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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for MECP2	Genetics and Cytogenetics in Oncology and Haematology
RettBASE	http://mecp2.chw.edu.au/mecp2/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MECP2

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