CR2Cancer

Summary
Symbol	MECP2
Name	methyl-CpG binding protein 2
Aliases	RTT; MRX16; MRX79; mental retardation, X-linked 16; mental retardation, X-linked 79; Rett syndrome; methyl C ......
Location	Xq28
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Domain, Function and Classification > Gene Ontology > KEGG and Reactome Pathway

> Domain, Function and Classification

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Domain

PF01429 Methyl-CpG binding domain

Function

Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A. Binds both 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC)-containing DNA, with a preference for 5-methylcytosine (5mC).

Classification

Class	Modification	Substrate	Product	PubMed
Histone modification write cofactor, Histone modification write cofactor	Histone methylation, Histone acetylation	mCG, DNA motif	#	10773092

> Gene Ontology [ TOP ]
Biological Process	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 GO:0002087 regulation of respiratory gaseous exchange by neurological system process GO:0002209 behavioral defense response GO:0003013 circulatory system process GO:0003016 respiratory system process GO:0003073 regulation of systemic arterial blood pressure GO:0006020 inositol metabolic process GO:0006066 alcohol metabolic process GO:0006091 generation of precursor metabolites and energy GO:0006119 oxidative phosphorylation GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c GO:0006342 chromatin silencing GO:0006349 regulation of gene expression by genetic imprinting GO:0006473 protein acetylation GO:0006475 internal protein amino acid acetylation GO:0006479 protein methylation GO:0006520 cellular amino acid metabolic process GO:0006541 glutamine metabolic process GO:0006576 cellular biogenic amine metabolic process GO:0006644 phospholipid metabolic process GO:0006650 glycerophospholipid metabolic process GO:0007416 synapse assembly GO:0007585 respiratory gaseous exchange GO:0007611 learning or memory GO:0007612 learning GO:0007613 memory GO:0007616 long-term memory GO:0007626 locomotory behavior GO:0007632 visual behavior GO:0008015 blood circulation GO:0008202 steroid metabolic process GO:0008211 glucocorticoid metabolic process GO:0008213 protein alkylation GO:0008217 regulation of blood pressure GO:0008306 associative learning GO:0008344 adult locomotory behavior GO:0008542 visual learning GO:0009064 glutamine family amino acid metabolic process GO:0009116 nucleoside metabolic process GO:0009119 ribonucleoside metabolic process GO:0009123 nucleoside monophosphate metabolic process GO:0009126 purine nucleoside monophosphate metabolic process GO:0009141 nucleoside triphosphate metabolic process GO:0009144 purine nucleoside triphosphate metabolic process GO:0009150 purine ribonucleotide metabolic process GO:0009161 ribonucleoside monophosphate metabolic process GO:0009167 purine ribonucleoside monophosphate metabolic process GO:0009199 ribonucleoside triphosphate metabolic process GO:0009205 purine ribonucleoside triphosphate metabolic process GO:0009308 amine metabolic process GO:0009314 response to radiation GO:0009405 pathogenesis GO:0009416 response to light stimulus GO:0009791 post-embryonic development GO:0015844 monoamine transport GO:0015850 organic hydroxy compound transport GO:0015980 energy derivation by oxidation of organic compounds GO:0016358 dendrite development GO:0016458 gene silencing GO:0016570 histone modification GO:0016571 histone methylation GO:0016573 histone acetylation GO:0018205 peptidyl-lysine modification GO:0018393 internal peptidyl-lysine acetylation GO:0018394 peptidyl-lysine acetylation GO:0019230 proprioception GO:0019233 sensory perception of pain GO:0019751 polyol metabolic process GO:0021549 cerebellum development GO:0021591 ventricular system development GO:0021700 developmental maturation GO:0022037 metencephalon development GO:0022900 electron transport chain GO:0022904 respiratory electron transport chain GO:0030534 adult behavior GO:0030902 hindbrain development GO:0031056 regulation of histone modification GO:0031057 negative regulation of histone modification GO:0031060 regulation of histone methylation GO:0031061 negative regulation of histone methylation GO:0032048 cardiolipin metabolic process GO:0032259 methylation GO:0033555 multicellular organismal response to stress GO:0035065 regulation of histone acetylation GO:0035067 negative regulation of histone acetylation GO:0035176 social behavior GO:0036293 response to decreased oxygen levels GO:0040029 regulation of gene expression, epigenetic GO:0042278 purine nucleoside metabolic process GO:0042391 regulation of membrane potential GO:0042551 neuron maturation GO:0042596 fear response GO:0042773 ATP synthesis coupled electron transport GO:0042775 mitochondrial ATP synthesis coupled electron transport GO:0043414 macromolecule methylation GO:0043523 regulation of neuron apoptotic process GO:0043524 negative regulation of neuron apoptotic process GO:0043543 protein acylation GO:0043576 regulation of respiratory gaseous exchange GO:0044057 regulation of system process GO:0044065 regulation of respiratory system process GO:0044089 positive regulation of cellular component biogenesis GO:0044106 cellular amine metabolic process GO:0044262 cellular carbohydrate metabolic process GO:0044708 single-organism behavior GO:0044723 single-organism carbohydrate metabolic process GO:0045333 cellular respiration GO:0045814 negative regulation of gene expression, epigenetic GO:0046034 ATP metabolic process GO:0046128 purine ribonucleoside metabolic process GO:0046470 phosphatidylcholine metabolic process GO:0046471 phosphatidylglycerol metabolic process GO:0046486 glycerolipid metabolic process GO:0048167 regulation of synaptic plasticity GO:0048469 cell maturation GO:0050432 catecholamine secretion GO:0050803 regulation of synapse structure or activity GO:0050804 modulation of synaptic transmission GO:0050806 positive regulation of synaptic transmission GO:0050807 regulation of synapse organization GO:0050808 synapse organization GO:0050884 neuromuscular process controlling posture GO:0050890 cognition GO:0050905 neuromuscular process GO:0051402 neuron apoptotic process GO:0051703 intraspecies interaction between organisms GO:0051705 multi-organism behavior GO:0051937 catecholamine transport GO:0051962 positive regulation of nervous system development GO:0051963 regulation of synapse assembly GO:0051965 positive regulation of synapse assembly GO:0060078 regulation of postsynaptic membrane potential GO:0060079 excitatory postsynaptic potential GO:0060291 long-term synaptic potentiation GO:0070482 response to oxygen levels GO:0070997 neuron death GO:0071514 genetic imprinting GO:0097164 ammonium ion metabolic process GO:0099565 chemical synaptic transmission, postsynaptic GO:1901214 regulation of neuron death GO:1901215 negative regulation of neuron death GO:1901605 alpha-amino acid metabolic process GO:1901615 organic hydroxy compound metabolic process GO:1901657 glycosyl compound metabolic process GO:1901983 regulation of protein acetylation GO:1901984 negative regulation of protein acetylation GO:1902275 regulation of chromatin organization GO:1905268 negative regulation of chromatin organization GO:2000756 regulation of peptidyl-lysine acetylation GO:2000757 negative regulation of peptidyl-lysine acetylation
Molecular Function	GO:0003682 chromatin binding GO:0003714 transcription corepressor activity GO:0003729 mRNA binding GO:0008134 transcription factor binding GO:0008327 methyl-CpG binding GO:0010385 double-stranded methylated DNA binding GO:0035197 siRNA binding GO:0042826 histone deacetylase binding GO:0047485 protein N-terminus binding
Cellular Component	GO:0000785 chromatin GO:0000792 heterochromatin GO:0098794 postsynapse

> KEGG and Reactome Pathway [ TOP ]
KEGG	-
Reactome	-

Summary
Symbol	MECP2
Name	methyl-CpG binding protein 2
Aliases	RTT; MRX16; MRX79; mental retardation, X-linked 16; mental retardation, X-linked 79; Rett syndrome; methyl C ......
Location	Xq28
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Mutation landscape in primary tumor tissue from TCGA > Mutation landscape in cancer cell line from CCLE > All mutations from COSMIC database V81 > Variations from text mining

> The Cancer Genome Atlas (TCGA) [ TOP ]

> Cancer Cell Line Encyclopedia (CCLE) [ TOP ]
There is no record.

> Catalogue of Somatic Mutations in Cancer (COSMIC)

[ TOP ]

COSMIC ID	CDS change	AA change	Mutation Type	Anatomical Site
COSM3033684	c.473C>T	p.T158M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1117796	c.1014C>A	p.T338T	Substitution - coding silent	Endometrium
COSM4701401	c.815C>T	p.P272L	Substitution - Missense	Large_intestine
COSM1117798	c.755G>A	p.G252D	Substitution - Missense	Endometrium
COSM462284	c.1079C>T	p.S360L	Substitution - Missense	Cervix
COSM4589298	c.688C>T	p.P230S	Substitution - Missense	Bone
COSM457092	c.438C>T	p.G146G	Substitution - coding silent	Pancreas
COSM3033649	c.1351A>G	p.K451E	Substitution - Missense	Large_intestine
COSM4941883	c.1396A>T	p.M466L	Substitution - Missense	Liver
COSM4701407	c.165G>A	p.E55E	Substitution - coding silent	Large_intestine
COSM3372159	c.379C>T	p.P127S	Substitution - Missense	Thyroid
COSM4798141	c.1362G>A	p.G454G	Substitution - coding silent	Liver
COSM5727837	c.995G>A	p.S332N	Substitution - Missense	Skin
COSM4108019	c.55C>G	p.Q19E	Substitution - Missense	Stomach
COSM4612251	c.1086delC	p.K363fs*46	Deletion - Frameshift	Large_intestine
COSM5367342	c.942C>T	p.I314I	Substitution - coding silent	Large_intestine
COSM5508247	c.710delG	p.G237fs*11	Deletion - Frameshift	Biliary_tract
COSM1214802	c.254G>A	p.R85H	Substitution - Missense	Large_intestine
COSM3033685	c.447C>T	p.S149S	Substitution - coding silent	Bone
COSM4108018	c.316C>T	p.R106W	Substitution - Missense	Stomach
COSM3033658	c.1164A>C	p.P388P	Substitution - coding silent	Prostate
COSM3844047	c.398G>A	p.R133H	Substitution - Missense	Breast
COSM3681679	c.685T>G	p.S229A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3681681	c.635T>G	p.V212G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5494317	c.1357C>T	p.R453*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM755701	c.359A>G	p.Y120C	Substitution - Missense	Lung
COSM1466730	c.834C>T	p.A278A	Substitution - coding silent	Large_intestine
COSM488159	c.218C>T	p.A73V	Substitution - Missense	Kidney
COSM1257541	c.1259G>C	p.R420T	Substitution - Missense	Stomach
COSM2155980	c.1410C>A	p.N470K	Substitution - Missense	Central_nervous_system
COSM3033655	c.1179C>T	p.P393P	Substitution - coding silent	Large_intestine
COSM1117795	c.1431C>T	p.S477S	Substitution - coding silent	Endometrium
COSM4521679	c.1089G>A	p.K363K	Substitution - coding silent	Skin
COSM4701400	c.1324A>G	p.T442A	Substitution - Missense	Stomach
COSM1466729	c.1316C>T	p.A439V	Substitution - Missense	Large_intestine
COSM1117801	c.50A>G	p.D17G	Substitution - Missense	Endometrium
COSM457091	c.894G>C	p.E298D	Substitution - Missense	Breast
COSM3379574	c.140A>G	p.Q47R	Substitution - Missense	Pancreas
COSM1165788	c.526C>T	p.P176S	Substitution - Missense	Stomach
COSM4701400	c.1324A>G	p.T442A	Substitution - Missense	Large_intestine
COSM3033684	c.473C>T	p.T158M	Substitution - Missense	Large_intestine
COSM1756455	c.1243G>C	p.E415Q	Substitution - Missense	Urinary_tract
COSM240632	c.148G>A	p.A50T	Substitution - Missense	Prostate
COSM5561757	c.528C>G	p.P176P	Substitution - coding silent	Prostate
COSM488157	c.393C>G	p.A131A	Substitution - coding silent	Kidney
COSM1466728	c.1346delA	p.K449fs*33	Deletion - Frameshift	Large_intestine
COSM3033655	c.1179C>T	p.P393P	Substitution - coding silent	Large_intestine
COSM3913644	c.965C>T	p.P322L	Substitution - Missense	Skin
COSM1117800	c.250C>T	p.R84W	Substitution - Missense	Endometrium
COSM4108017	c.808C>T	p.R270*	Substitution - Nonsense	Stomach
COSM4986209	c.1197C>T	p.P399P	Substitution - coding silent	Soft_tissue
COSM1636942	c.82T>G	p.F28V	Substitution - Missense	Bone
COSM3939870	c.1018A>C	p.K340Q	Substitution - Missense	Oesophagus
COSM5624780	c.1437G>A	p.T479T	Substitution - coding silent	Oesophagus
COSM3033674	c.920A>G	p.K307R	Substitution - Missense	Large_intestine
COSM3673363	c.537C>A	p.P179P	Substitution - coding silent	Prostate
COSM1580272	c.27G>T	p.R9S	Substitution - Missense	Central_nervous_system
COSM4188785	c.958G>C	p.V320L	Substitution - Missense	Kidney
COSM4701405	c.179G>A	p.G60D	Substitution - Missense	Large_intestine
COSM3033659	c.1137C>T	p.P379P	Substitution - coding silent	Stomach
COSM1165788	c.526C>T	p.P176S	Substitution - Missense	Large_intestine
COSM4701402	c.754G>A	p.G252S	Substitution - Missense	Large_intestine
COSM269568	c.1060C>T	p.R354C	Substitution - Missense	Large_intestine
COSM1683032	c.461A>G	p.D154G	Substitution - Missense	Ovary
COSM4108020	c.35A>G	p.K12R	Substitution - Missense	Stomach
COSM3694442	c.1330G>A	p.A444T	Substitution - Missense	Large_intestine
COSM240631	c.1047C>A	p.S349R	Substitution - Missense	Prostate
COSM3033660	c.1135C>T	p.P379S	Substitution - Missense	Large_intestine
COSM3033659	c.1137C>T	p.P379P	Substitution - coding silent	Skin
COSM4108015	c.1373G>A	p.R458H	Substitution - Missense	Stomach
COSM1466731	c.419C>T	p.A140V	Substitution - Missense	Large_intestine
COSM214167	c.892G>T	p.E298*	Substitution - Nonsense	Breast
COSM4443135	c.344G>A	p.R115H	Substitution - Missense	Large_intestine
COSM1194484	c.121G>A	p.G41S	Substitution - Missense	Lung
COSM5676351	c.814C>G	p.P272A	Substitution - Missense	Soft_tissue
COSM4701404	c.215C>T	p.P72L	Substitution - Missense	Large_intestine
COSM3559663	c.1084C>T	p.P362S	Substitution - Missense	Skin
COSM4467178	c.1439C>T	p.P480L	Substitution - Missense	Skin
COSM4701408	c.135C>T	p.P45P	Substitution - coding silent	Large_intestine
COSM4505187	c.650C>T	p.P217L	Substitution - Missense	Skin
COSM457093	c.253C>T	p.R85C	Substitution - Missense	Breast
COSM3964936	c.1265G>A	p.G422D	Substitution - Missense	Lung
COSM5669836	c.758G>T	p.R253M	Substitution - Missense	Soft_tissue
COSM3559664	c.649C>T	p.P217S	Substitution - Missense	Skin
COSM5910037	c.892G>A	p.E298K	Substitution - Missense	Skin
COSM4701406	c.175G>A	p.A59T	Substitution - Missense	Large_intestine
COSM5962230	c.762G>T	p.K254N	Substitution - Missense	Breast
COSM4108016	c.1222T>C	p.L408L	Substitution - coding silent	Stomach
COSM457093	c.253C>T	p.R85C	Substitution - Missense	Endometrium
COSM1466731	c.419C>T	p.A140V	Substitution - Missense	Large_intestine
COSM3559665	c.255C>T	p.R85R	Substitution - coding silent	Skin
COSM4701399	c.1342delG	p.E448fs*34	Deletion - Frameshift	Large_intestine
COSM4550865	c.475G>A	p.V159I	Substitution - Missense	Skin
COSM3973454	c.261C>T	p.I87I	Substitution - coding silent	Central_nervous_system
COSM5494317	c.1357C>T	p.R453*	Substitution - Nonsense	Biliary_tract
COSM270712	c.911A>G	p.K304R	Substitution - Missense	Large_intestine
COSM4429970	c.1279G>A	p.D427N	Substitution - Missense	Oesophagus
COSM3033655	c.1179C>T	p.P393P	Substitution - coding silent	Large_intestine
COSM3033660	c.1135C>T	p.P379S	Substitution - Missense	Large_intestine
COSM3033660	c.1135C>T	p.P379S	Substitution - Missense	Large_intestine
COSM1117799	c.427G>A	p.E143K	Substitution - Missense	Endometrium
COSM755703	c.1309C>G	p.Q437E	Substitution - Missense	Lung
COSM3694442	c.1330G>A	p.A444T	Substitution - Missense	Large_intestine
COSM3033674	c.920A>G	p.K307R	Substitution - Missense	Large_intestine
COSM3033690	c.342C>T	p.G114G	Substitution - coding silent	Large_intestine
COSM3033647	c.1392C>T	p.S464S	Substitution - coding silent	Upper_aerodigestive_tract
COSM462283	c.666C>T	p.V222V	Substitution - coding silent	Cervix
COSM4108014	c.1456A>C	p.S486R	Substitution - Missense	Stomach
COSM1756455	c.1243G>C	p.E415Q	Substitution - Missense	Urinary_tract
COSM755702	c.980C>A	p.T327N	Substitution - Missense	Lung
COSM5807888	c.1436C>T	p.T479M	Substitution - Missense	Liver
COSM4798141	c.1362G>A	p.G454G	Substitution - coding silent	Liver
COSM1257540	c.593G>C	p.R198T	Substitution - Missense	Oesophagus
COSM1117797	c.870G>A	p.E290E	Substitution - coding silent	Endometrium
COSM3357401	c.622C>A	p.Q208K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5711552	c.550A>C	p.T184P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4701403	c.240C>T	p.S80S	Substitution - coding silent	Large_intestine
COSM1466729	c.1316C>T	p.A439V	Substitution - Missense	Large_intestine
COSM4762875	c.1388C>A	p.S463*	Substitution - Nonsense	Stomach
COSM5003916	c.282G>T	p.M94I	Substitution - Missense	Pancreas
COSM3681680	c.674C>T	p.P225L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue

> Text Mining based Variations

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PMID	Variation	Cancer	Evidence
27843499	Mutation	Glioblastoma	Here, using retrotransposon capture sequencing (RC-seq), we surveyed L1 mutations in 14 tumours classified as glioblastoma multiforme (GBM) or as a lower grade glioma. In four GBM tumours, we characterised one probable endonuclease-independent L1 insertion, two L1-associated rearrangements and one likelyAlu-Alurecombination event adjacent to an L1. These mutations included PCR validated intronic events in MeCP2 and EGFR.

Summary
Symbol	MECP2
Name	methyl-CpG binding protein 2
Aliases	RTT; MRX16; MRX79; mental retardation, X-linked 16; mental retardation, X-linked 79; Rett syndrome; methyl C ......
Location	Xq28
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Post-translational modification (PTM)

> Post-translational modification (PTM)

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Filter By:

Uniprot ID	Position	Amino Acid	Description	Upstream Enzyme	Affected By Mutation	Amino Acid Sequence Variant
P51608	80	S	Phosphoserine	-	No	None detected
P51608	116	S	Phosphoserine	-	No	None detected
P51608	162	R	Omega-N-methylarginine	-	No	None detected
P51608	216	S	Phosphoserine	-	No	None detected
P51608	229	S	Phosphoserine	-	No	None detected
P51608	321	K	N6-acetyllysine	-	No	None detected
P51608	423	S	Phosphoserine	-	No	None detected
P51608	426	S	Phosphoserine	-	No	None detected
P51608	449	K	N6-acetyllysine	-	Yes	p.K449fs (cancer: COAD)

Summary
Symbol	MECP2
Name	methyl-CpG binding protein 2
Aliases	RTT; MRX16; MRX79; mental retardation, X-linked 16; mental retardation, X-linked 79; Rett syndrome; methyl C ......
Location	Xq28
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Expression analysis in primary tumor tissue from TCGA > Expression level in cancer cell line from CCLE > Expression level in human normal tissue from HPA > Text mining based expression change

> The Cancer Genome Atlas (TCGA)

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Differential expression analysis for cancers with more than 10 normal samples

Cancer	Full Name	# N	# T	Median (N)	Median (T)	LogFC	Adj. P	Status
BLCA	Bladder urothelial carcinoma	19	408	6.195	5.637	-0.619	8.02e-08	Under
BRCA	Breast invasive carcinoma	112	1100	6.599	6.163	-0.399	1.68e-18	NS
CESC	Cervical and endocervical cancers	3	306	6.585	5.7	NA	NA	NA
COAD	Colon adenocarcinoma	41	459	5.531	5.414	-0.183	0.0359	NS
ESCA	Esophageal carcinoma	11	185	6.518	6.213	-0.546	0.000613	NS
GBM	Glioblastoma multiforme	5	166	7.315	6.133	NA	NA	NA
HNSC	Head and Neck squamous cell carcinoma	44	522	5.457	5.464	-0.04	0.645	NS
KIRC	Kidney renal clear cell carcinoma	72	534	6.653	6.37	-0.273	7.31e-08	NS
KIRP	Kidney renal papillary cell carcinoma	32	291	6.637	6.045	-0.524	9.51e-10	NS
LAML	Acute Myeloid Leukemia	0	173	NA	7.253	NA	NA	NA
LGG	Brain Lower Grade Glioma	0	530	NA	6.73	NA	NA	NA
LIHC	Liver hepatocellular carcinoma	50	373	4.343	4.505	0.263	0.00083	NS
LUAD	Lung adenocarcinoma	59	517	6.427	5.894	-0.412	4.99e-10	NS
LUSC	Lung squamous cell carcinoma	51	501	6.329	5.793	-0.491	9.78e-13	NS
OV	Ovarian serous cystadenocarcinoma	0	307	NA	6.323	NA	NA	NA
PAAD	Pancreatic adenocarcinoma	4	179	6.169	6.014	NA	NA	NA
PCPG	Pheochromocytoma and Paraganglioma	3	184	6.344	6.948	NA	NA	NA
PRAD	Prostate adenocarcinoma	52	498	6.637	6.267	-0.374	4.46e-14	NS
READ	Rectum adenocarcinoma	10	167	5.743	5.538	-0.141	0.417	NS
SARC	Sarcoma	2	263	6.058	6.116	NA	NA	NA
SKCM	Skin Cutaneous Melanoma	1	472	5.956	6.569	NA	NA	NA
STAD	Stomach adenocarcinoma	35	415	6.461	6.181	-0.351	0.000764	NS
TGCT	Testicular Germ Cell Tumors	0	156	NA	6.055	NA	NA	NA
THCA	Thyroid carcinoma	59	509	6.578	6.426	-0.089	0.0427	NS
THYM	Thymoma	2	120	6.638	6.537	NA	NA	NA
UCEC	Uterine Corpus Endometrial Carcinoma	35	546	6.813	5.639	-1.095	1.67e-44	Under

> Cancer Cell Line Encyclopedia (CCLE) [ TOP ]
There is no record.

> The Human Protein Atlas (HPA)

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Tissue	Expression Level (TPM)
Adipose tissue	14.7
Adrenal gland	20.6
Appendix	19.7
Bone marrow	20.2
Breast	10
Cerebral cortex	22.5
Cervix, uterine	18.2
Colon	9.6
Duodenum	11
Endometrium	25.8
Epididymis	13.3
Esophagus	14.9
Fallopian tube	25.9
Gallbladder	21.3
Heart muscle	10.5
Kidney	11.1
Liver	4.3
Lung	17.9
Lymph node	18.7
Ovary	26.9
Pancreas	3.5
Parathyroid gland	29.4
Placenta	14.5
Prostate	21.4
Rectum	6.4
Salivary gland	6.7
Seminal vesicle	24.3
Skeletal muscle	10
Skin	11.2
Small intestine	12.5
Smooth muscle	17.7
Spleen	24.1
Stomach	10.7
Testis	15.1
Thyroid gland	21.5
Tonsil	10
Urinary bladder	16.7

> Text Mining based Expression

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PMID	Expression	Cancer	Evidence
27453110	Overexpression	Cervical Carcinoma	The expression levels of MeCP2 protein(H=33.72, P<0.001; trend χ(2)=14.74, P<0.001)and mRNA(H=19.50, P<0.001; trend χ(2)=10.74, P<0.001)increased gradually along with the severity of cervical lesions.
24199952	Overexpression	Hepatocellular Carcinoma	The results showed that MeCP2 expression levels was higher in human HCC tissue than normal hepatocellular tissue
23915259	Underexpression	Lung Carcinoma	Down-regulation of DNMTs and MeCP2 and up-regulation of acetylated histones could be detected in lung cancer cells.
23751476	Underexpression	Cervical Carcinoma	Results showed that the expression levels of DNMT1 protein (C33A: r = -0.914, P < 0.001; Caski: r = -0.859, P = 0.003) and MeCP2 protein (C33A: r = -0.830, P = 0.005; Caski: r = -0.981, P < 0.001) decreased gradually with the increase of folate concentrations, but the expression of DNMT1 and MeCP2 mRNA was not observed in Caski or C33A cell.
14612906	Overexpression	Breast Carcinoma	We observed higher expression levels of MeCP2 mRNA in neoplastic tissues than in non-neoplastic tissues (P=0.001), whereas no significant differences for MBD2 were detected.
12824891	Overexpression	Colorectal Carcinoma	In contrast, both signet-ring cell carcinoma and mucinous adenocarcinoma showed fully methylated patterns and strong MeCP2 expression.
12101420	Underexpression	Small Cell Lung Cancer	However, when normalized using proliferating cell nuclear antigen (PCNA) as an internal control, these differences disappeared or diminished; there was even a significant reduction in the expression ratios of DNMT1, MBD2 and MeCP2 in SCLC and DNMT1, MBD2 and MBD4 in NSCLC.
11710831	Underexpression	Non-Small Cell Lung Cancer	Western blot analyses of MeCP2 in matched tumour-normal samples of patients with non-small-cell lung cancer (NSCLC) indicated reduced protein in a significant percentage of patients.
22455563	Overexpression	Breast Carcinoma	In contrast, expression of MeCP2 (P < 0.001), DNMT1 (P = 0.001), HDAC1 (P < 0.001) and H3Ac (P = 0.004) expressions was increased.
28291253	Overexpression	Colorectal Carcinoma	In addition, we found a DNA methyl-CpG-binding protein, Mecp2, was up-regulated in ACS tissues via mRNA sequencing.
28131747	Overexpression	Gastric Carcinoma	Here we report that MeCP2 is highly expressed in primary GC tissues and the expression level is correlated with the clinicopathologic features of GC.

Summary
Symbol	MECP2
Name	methyl-CpG binding protein 2
Aliases	RTT; MRX16; MRX79; mental retardation, X-linked 16; mental retardation, X-linked 79; Rett syndrome; methyl C ......
Location	Xq28
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Somatic copy number alteration in primary tomur tissue

> The Cancer Genome Atlas (TCGA)

[ TOP ]

Correlation between expression and SCNA as well as percentage of patients in different status.

Cancer	Full Name	# Sample	R	P	% Loss	% Neutral	% Gain	Status
BLCA	Bladder urothelial carcinoma	404	0.371	1.32e-14	18.3	63.6	18.1	Neutral
BRCA	Breast invasive carcinoma	1075	0.23	2.58e-14	17.1	65.9	17	Neutral
CESC	Cervical and endocervical cancers	292	0.421	5.57e-14	18.2	56.5	25.3	Neutral
COAD	Colon adenocarcinoma	449	0.221	2.36e-06	11.1	69.7	19.2	Neutral
ESCA	Esophageal carcinoma	183	0.376	1.51e-07	14.2	48.6	37.2	Gain
GBM	Glioblastoma multiforme	147	0.181	0.0282	22.4	70.1	7.5	Neutral
HNSC	Head and Neck squamous cell carcinoma	514	0.395	1.26e-20	10.3	60.9	28.8	Neutral
KIRC	Kidney renal clear cell carcinoma	525	0.112	0.0099	10.5	82.7	6.9	Neutral
KIRP	Kidney renal papillary cell carcinoma	288	0.033	0.574	9.4	59.4	31.2	Neutral
LAML	Acute Myeloid Leukemia	166	-0.091	0.242	3.6	95.8	0.6	Neutral
LGG	Brain Lower Grade Glioma	513	0.279	1.19e-10	15.6	75.2	9.2	Neutral
LIHC	Liver hepatocellular carcinoma	364	0.479	2.81e-22	17.6	58.8	23.6	Neutral
LUAD	Lung adenocarcinoma	512	0.277	1.74e-10	8	61.7	30.3	Neutral
LUSC	Lung squamous cell carcinoma	498	0.356	2.44e-16	19.1	56.4	24.5	Neutral
OV	Ovarian serous cystadenocarcinoma	300	0.448	3.28e-16	36.3	25.7	38	Gain
PAAD	Pancreatic adenocarcinoma	177	0.336	4.82e-06	9	79.1	11.9	Neutral
PCPG	Pheochromocytoma and Paraganglioma	162	-0.221	0.00467	32.1	64.8	3.1	Neutral
PRAD	Prostate adenocarcinoma	491	0.161	0.000343	6.7	90.8	2.4	Neutral
READ	Rectum adenocarcinoma	164	0.149	0.0576	14	63.4	22.6	Neutral
SARC	Sarcoma	255	0.337	3.31e-08	43.9	39.6	16.5	Loss
SKCM	Skin Cutaneous Melanoma	367	0.162	0.00187	24.5	59.9	15.5	Neutral
STAD	Stomach adenocarcinoma	413	0.285	3.92e-09	11.6	69.7	18.6	Neutral
TGCT	Testicular Germ Cell Tumors	150	0.153	0.0619	18.7	64.7	16.7	Neutral
THCA	Thyroid carcinoma	497	0.106	0.0185	0.8	97.4	1.8	Neutral
THYM	Thymoma	119	0.493	1.27e-08	1.7	89.9	8.4	Neutral
UCEC	Uterine Corpus Endometrial Carcinoma	537	0.345	1.82e-16	12.7	70.2	17.1	Neutral

Summary
Symbol	MECP2
Name	methyl-CpG binding protein 2
Aliases	RTT; MRX16; MRX79; mental retardation, X-linked 16; mental retardation, X-linked 79; Rett syndrome; methyl C ......
Location	Xq28
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Methylation level in the promoter region of CR

> Methylation level in the promoter region of CR

[ TOP ]

Correlation between expression and methylation as well as differential methylation analysis.

Cancer	Full Name	R	P	# N	# T	Delta beta (T vs N)	P value (T vs N)	Status
BLCA	Bladder urothelial carcinoma	-0.211	1.17e-05	17	408	0.001	0.152	NS/NA
BRCA	Breast invasive carcinoma	-0.142	2.78e-05	83	785	-0.049	2.8e-07	NS/NA
CESC	Cervical and endocervical cancers	-0.452	0	3	306	NA	NA	NS/NA
COAD	Colon adenocarcinoma	-0.241	1.64e-05	19	297	0.004	0.994	NS/NA
ESCA	Esophageal carcinoma	-0.191	0.00768	9	185	NA	NA	NS/NA
GBM	Glioblastoma multiforme	-0.034	0.789	1	64	NA	NA	NS/NA
HNSC	Head and Neck squamous cell carcinoma	-0.298	1.89e-12	20	522	0	0.844	NS/NA
KIRC	Kidney renal clear cell carcinoma	-0.179	0.000862	24	319	0.004	0.574	NS/NA
KIRP	Kidney renal papillary cell carcinoma	-0.162	0.00506	23	275	0.138	0.0295	NS/NA
LAML	Acute Myeloid Leukemia	-0.049	0.528	0	170	NA	NA	NS/NA
LGG	Brain Lower Grade Glioma	-0.031	0.474	0	530	NA	NA	NS/NA
LIHC	Liver hepatocellular carcinoma	-0.17	0.000527	41	373	0	0.0601	NS/NA
LUAD	Lung adenocarcinoma	-0.087	0.0578	21	456	0.259	6.54e-09	Increased
LUSC	Lung squamous cell carcinoma	-0.168	0.00105	8	370	NA	NA	NS/NA
OV	Ovarian serous cystadenocarcinoma	-0.5	0.178	0	9	NA	NA	NS/NA
PAAD	Pancreatic adenocarcinoma	-0.298	4.62e-05	4	179	NA	NA	NS/NA
PCPG	Pheochromocytoma and Paraganglioma	-0.218	0.00284	3	184	NA	NA	NS/NA
PRAD	Prostate adenocarcinoma	-0.308	4.66e-13	35	498	0.109	3.06e-10	NS/NA
READ	Rectum adenocarcinoma	-0.084	0.401	2	99	NA	NA	NS/NA
SARC	Sarcoma	-0.111	0.0726	0	263	NA	NA	NS/NA
SKCM	Skin Cutaneous Melanoma	-0.12	0.00896	1	471	NA	NA	NS/NA
STAD	Stomach adenocarcinoma	-0.151	0.00347	0	372	NA	NA	NS/NA
TGCT	Testicular Germ Cell Tumors	-0.5	2.6e-11	0	156	NA	NA	NS/NA
THCA	Thyroid carcinoma	-0.079	0.0622	50	509	-0.052	0.132	NS/NA
THYM	Thymoma	-0.429	1.06e-06	2	120	NA	NA	NS/NA
UCEC	Uterine Corpus Endometrial Carcinoma	-0.301	4.1e-11	34	431	0.096	6.94e-12	NS/NA

Summary
Symbol	MECP2
Name	methyl-CpG binding protein 2
Aliases	RTT; MRX16; MRX79; mental retardation, X-linked 16; mental retardation, X-linked 79; Rett syndrome; methyl C ......
Location	Xq28
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Primary tumor tissue from TCGA > Normal tumor tissue from HPA

>The Cancer Genome Atlas (TCGA) [ TOP ]
There is no record.

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Level	Level Name
Adrenal gland	3	High
Appendix	3	High
Bone marrow	3	High
Breast	3	High
Bronchus	3	High
Caudate	3	High
Cerebellum	3	High
Cerebral cortex	3	High
Cervix, uterine	3	High
Colon	3	High
Duodenum	2	Medium
Endometrium	3	High
Epididymis	3	High
Esophagus	2	Medium
Fallopian tube	3	High
Gallbladder	3	High
Heart muscle	3	High
Hippocampus	3	High
Kidney	3	High
Liver	3	High
Lung	3	High
Lymph node	3	High
Nasopharynx	3	High
Oral mucosa	1	Low
Ovary	3	High
Pancreas	3	High
Parathyroid gland	3	High
Placenta	3	High
Prostate	3	High
Rectum	1	Low
Salivary gland	3	High
Seminal vesicle	3	High
Skeletal muscle	3	High
Skin	2	Medium
Small intestine	1	Low
Smooth muscle	3	High
Soft tissue	2	Medium
Spleen	3	High
Stomach	3	High
Testis	3	High
Thyroid gland	3	High
Tonsil	3	High
Urinary bladder	3	High
Vagina	3	High

Summary
Symbol	MECP2
Name	methyl-CpG binding protein 2
Aliases	RTT; MRX16; MRX79; mental retardation, X-linked 16; mental retardation, X-linked 79; Rett syndrome; methyl C ......
Location	Xq28
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Association between expresson and subtype > Overall survival analysis based on expression > Association between expresson and stage > Association between expresson and grade

> Subtype

[ TOP ]

Association between expresson and subtype.

Cancer	Full Name	# Patients	P Value (Kruskal-Wallis)	Association	Source
BLCA	Bladder urothelial carcinoma	128	0.742	NS	24476821
BRCA	Breast invasive carcinoma	521	5.07e-07	Significant	23000897
COAD	Colon adenocarcinoma	149	0.00707	Significant	22810696
GBM	Glioblastoma multiforme	157	0.249	NS	26824661
HNSC	Head and Neck squamous cell carcinoma	279	9.44e-07	Significant	25631445
KIRP	Kidney renal papillary cell carcinoma	161	0.0417	Significant	26536169
LGG	Brain Lower Grade Glioma	513	0.0114	Significant	26824661
LUAD	Lung adenocarcinoma	230	0.00264	Significant	25079552
LUSC	Lung squamous cell carcinoma	178	0.223	NS	22960745
OV	Ovarian serous cystadenocarcinoma	287	0.00425	Significant	21720365
PRAD	Prostate adenocarcinoma	333	7.37e-05	Significant	26544944
READ	Rectum adenocarcinoma	67	0.0475	Significant	22810696
SKCM	Skin Cutaneous Melanoma	315	0.795	NS	26091043
STAD	Stomach adenocarcinoma	277	9.66e-15	Significant	25079317
THCA	Thyroid carcinoma	391	0.668	NS	25417114
UCEC	Uterine Corpus Endometrial Carcinoma	232	5.93e-08	Significant	23636398

> Overall survival

[ TOP ]

Overall survival analysis based on expression.

Cancer	Full Name	# Patients	Hazard Ratio	P Value (Log Rank Test)	Association
BLCA	Bladder urothelial carcinoma	405	0.75	0.198	NS
BRCA	Breast invasive carcinoma	1079	1.443	0.0902	NS
CESC	Cervical and endocervical cancers	291	0.353	0.00205	Longer
COAD	Colon adenocarcinoma	439	1.578	0.126	NS
ESCA	Esophageal carcinoma	184	0.852	0.618	NS
GBM	Glioblastoma multiforme	158	0.842	0.492	NS
HNSC	Head and Neck squamous cell carcinoma	518	0.996	0.983	NS
KIRC	Kidney renal clear cell carcinoma	531	0.356	1.02e-05	Longer
KIRP	Kidney renal papillary cell carcinoma	287	0.591	0.242	NS
LAML	Acute Myeloid Leukemia	149	0.998	0.995	NS
LGG	Brain Lower Grade Glioma	511	0.747	0.259	NS
LIHC	Liver hepatocellular carcinoma	365	1.078	0.752	NS
LUAD	Lung adenocarcinoma	502	0.497	0.00161	Longer
LUSC	Lung squamous cell carcinoma	494	1.109	0.587	NS
OV	Ovarian serous cystadenocarcinoma	303	1.142	0.513	NS
PAAD	Pancreatic adenocarcinoma	177	0.409	0.00441	Longer
PCPG	Pheochromocytoma and Paraganglioma	179	1.026	0.986	NS
PRAD	Prostate adenocarcinoma	497	0.626	0.594	NS
READ	Rectum adenocarcinoma	159	2.968	0.0851	NS
SARC	Sarcoma	259	0.502	0.0184	Longer
SKCM	Skin Cutaneous Melanoma	459	1.354	0.0949	NS
STAD	Stomach adenocarcinoma	388	0.89	0.601	NS
TGCT	Testicular Germ Cell Tumors	134	0.421	0.443	NS
THCA	Thyroid carcinoma	500	2.079	0.372	NS
THYM	Thymoma	119	5.225	0.0943	NS
UCEC	Uterine Corpus Endometrial Carcinoma	543	2.235	0.00245	Shorter

> Stage

[ TOP ]

Association between expresson and stage.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
BLCA	Bladder urothelial carcinoma	406	-0.127	0.0105	Lower
BRCA	Breast invasive carcinoma	1071	0.001	0.974	NS
CESC	Cervical and endocervical cancers	167	0.042	0.591	NS
COAD	Colon adenocarcinoma	445	0.121	0.0108	Higher
ESCA	Esophageal carcinoma	162	-0.01	0.896	NS
HNSC	Head and Neck squamous cell carcinoma	448	0.033	0.486	NS
KIRC	Kidney renal clear cell carcinoma	531	-0.235	4.35e-08	Lower
KIRP	Kidney renal papillary cell carcinoma	260	-0.064	0.301	NS
LIHC	Liver hepatocellular carcinoma	347	0.142	0.00813	Higher
LUAD	Lung adenocarcinoma	507	-0.071	0.112	NS
LUSC	Lung squamous cell carcinoma	497	-0.068	0.131	NS
OV	Ovarian serous cystadenocarcinoma	302	0.072	0.209	NS
PAAD	Pancreatic adenocarcinoma	176	-0.13	0.0862	NS
READ	Rectum adenocarcinoma	156	0.058	0.469	NS
SKCM	Skin Cutaneous Melanoma	410	0.035	0.475	NS
STAD	Stomach adenocarcinoma	392	0.05	0.323	NS
TGCT	Testicular Germ Cell Tumors	81	-0.425	7.8e-05	Lower
THCA	Thyroid carcinoma	499	0.008	0.864	NS
UCEC	Uterine Corpus Endometrial Carcinoma	501	0.104	0.0202	Higher

> Grade

[ TOP ]

Association between expresson and grade.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
CESC	Cervical and endocervical cancers	272	-0.076	0.212	NS
HNSC	Head and Neck squamous cell carcinoma	498	0.225	3.84e-07	Higher
KIRC	Kidney renal clear cell carcinoma	525	-0.217	5.21e-07	Lower
LGG	Brain Lower Grade Glioma	514	-0.095	0.0307	Lower
LIHC	Liver hepatocellular carcinoma	366	-0.051	0.335	NS
OV	Ovarian serous cystadenocarcinoma	296	-0.021	0.714	NS
PAAD	Pancreatic adenocarcinoma	176	-0.093	0.219	NS
STAD	Stomach adenocarcinoma	406	0.175	0.000387	Higher
UCEC	Uterine Corpus Endometrial Carcinoma	534	0.207	1.46e-06	Higher

Summary
Symbol	MECP2
Name	methyl-CpG binding protein 2
Aliases	RTT; MRX16; MRX79; mental retardation, X-linked 16; mental retardation, X-linked 79; Rett syndrome; methyl C ......
Location	Xq28
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Targets inferred by reverse engineering method > Targets identified by ChIP-seq data

> Targets inferred by reverse engineering method [ TOP ]

> Targets identified by ChIP-seq data [ TOP ]

Summary
Symbol	MECP2
Name	methyl-CpG binding protein 2
Aliases	RTT; MRX16; MRX79; mental retardation, X-linked 16; mental retardation, X-linked 79; Rett syndrome; methyl C ......
Location	Xq28
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Drugs from DrugBank database

> Drugs from DrugBank database [ TOP ]
There is no record for MECP2.

Summary
Symbol	MECP2
Name	methyl-CpG binding protein 2
Aliases	RTT; MRX16; MRX79; mental retardation, X-linked 16; mental retardation, X-linked 79; Rett syndrome; methyl C ......
Location	Xq28
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Protein-Protein Interaction Network > miRNA Regulatory Relationship > Interactions from Text Mining

> Protein-Protein Interaction Network [ TOP ]

> miRNA Regulatory Relationship [ TOP ]

> Interactions from Text Mining

[ TOP ]

PMID	Cancer	Hierarchy	Gene	Relation to CR	Evidence
14612906	Breast Carcinoma	partner	OR	Association	Finally, using a linear regression model, we identified a statistically significant association between OR expression and MeCP2 mRNA expression in neoplastic and non-neoplastic breast tissue specimens (P=0.003).
22455563	Breast Carcinoma	partner	H3Ac; H4Ac	Positive Correlation	We identified a positive correlation between MeCP2 protein expression and H3Ac and H4Ac protein expression.
28291253	Colorectal Carcinoma	downstream	c-Met; miR-137	Negative regulation; positive regulation	We also confirmed c-Met expression can be up-regulated by silencing of miR-137 and suppressed by coexpression of Mecp2 and miR-137. These findings highlight the critical role of miR-137-c-Met nexus in CRC development and reveal Mecp2-regulated epigenetic silence causes the downregulation of miR-137 in colorectal adenoma and carcinoma.
28131747	Gastric Carcinoma	downstream	FOXF1; MYOD1; Wnt5a/β-Catenin signaling pathway; MYOD1-mediated Caspase-3 signaling pathway	Negative regulation; negative regulationl regulation; regulation	The results suggest that MeCP2 binds to the methylated CpG islands of FOXF1 and MYOD1 promoters and inhibits their expression at the transcription level. Furthermore, we show that MeCP2 promotes GC cell proliferation via FOXF1-mediated Wnt5a/β-Catenin signaling pathway and suppresses apoptosis through MYOD1-mediated Caspase-3 signaling pathway.