Protein

Methyl-CpG-binding protein 2

Gene

MECP2

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

Functionⁱ

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).By similarity

Regions

Feature key	Position(s)	DescriptionActions	Graphical view	Length
DNA bindingⁱ	185 – 197	A.T hook 1Add BLAST		13
DNA bindingⁱ	265 – 277	A.T hook 2Add BLAST		13

GO - Molecular functionⁱ

chromatin binding Source: Ensembl
DNA binding
Source: ProtInc
Traceable author statementⁱ
- 9620804
double-stranded methylated DNA binding
Source: MGI
Inferred from mutant phenotypeⁱ
- 17296936
methyl-CpG binding Source: GO_Central
mRNA binding Source: Ensembl
protein domain specific binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 11441023
protein N-terminus binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 11441023
RNA binding
Source: UniProtKB
Inferred from high throughput direct assayⁱ
- 22658674
siRNA binding Source: Ensembl
transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding Source: Ensembl
transcription corepressor activity
Source: ProtInc
Traceable author statementⁱ
- 10773092
transcription factor binding Source: Ensembl

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

adult locomotory behavior Source: Ensembl
behavioral fear response Source: Ensembl
cardiolipin metabolic process Source: Ensembl
catecholamine secretion Source: Ensembl
cellular biogenic amine metabolic process Source: Ensembl
cerebellum development Source: Ensembl
chromatin silencing Source: Ensembl
dendrite development Source: Ensembl
excitatory postsynaptic potential Source: Ensembl
glucocorticoid metabolic process Source: Ensembl
glutamine metabolic process Source: Ensembl
histone acetylation Source: Ensembl
histone methylation Source: Ensembl
inositol metabolic process Source: Ensembl
locomotory behavior Source: GO_Central
long-term memory Source: Ensembl
long-term synaptic potentiation Source: Ensembl
mitochondrial electron transport, ubiquinol to cytochrome c Source: Ensembl
mitotic spindle organization
Source: CAFA
Inferred from mutant phenotypeⁱ
- 25527496
negative regulation of angiogenesis
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 23960241
negative regulation of blood vessel endothelial cell migration
Source: BHF-UCL
Inferred from direct assayⁱ
- 23960241
negative regulation of gene expression
Source: BHF-UCL
Inferred from direct assayⁱ
- 23960241
negative regulation of histone acetylation Source: Ensembl
negative regulation of histone methylation Source: Ensembl
negative regulation of neuron apoptotic process Source: Ensembl
negative regulation of smooth muscle cell differentiation Source: Ensembl
negative regulation of transcription, DNA-templated
Source: UniProtKB
Inferred from direct assayⁱ
- 11441023
negative regulation of transcription by RNA polymerase II
Source: ProtInc
Traceable author statementⁱ
- 9620804
negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation Source: Ensembl
neurological system process involved in regulation of systemic arterial blood pressure Source: Ensembl
neuron maturation Source: Ensembl
pathogenesis Source: Ensembl
phosphatidylcholine metabolic process Source: Ensembl
positive regulation of cell proliferation
Source: CAFA
Inferred from mutant phenotypeⁱ
- 25527496
positive regulation of DNA methylation
Source: BHF-UCL
Inferred from direct assayⁱ
- 23960241
positive regulation of G2/M transition of mitotic cell cycle
Source: CAFA
Inferred from mutant phenotypeⁱ
- 25527496
positive regulation of histone H3-K9 trimethylation Source: Ensembl
positive regulation of microtubule nucleation
Source: CAFA
Inferred from mutant phenotypeⁱ
- 25527496
positive regulation of synapse assembly Source: Ensembl
positive regulation of transcription, DNA-templated Source: Ensembl
post-embryonic development Source: Ensembl
proprioception Source: Ensembl
protein localization Source: Ensembl
regulation of gene expression by genetic imprinting Source: Ensembl
regulation of respiratory gaseous exchange by neurological system process Source: Ensembl
respiratory gaseous exchange Source: Ensembl
response to hypoxia Source: Ensembl
response to radiation Source: GO_Central
sensory perception of pain Source: Ensembl
social behavior Source: Ensembl
startle response Source: Ensembl
synapse assembly Source: Ensembl
transcription, DNA-templated Source: UniProtKB-KW
ventricular system development Source: Ensembl
visual learning Source: Ensembl

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	DNA-binding, Repressor
Biological process	Transcription, Transcription regulation

Enzyme and pathway databases

SignaLinkⁱ	P51608
SIGNORⁱ	P51608

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Methyl-CpG-binding protein 2 Short name: MeCp-2 protein Short name: MeCp2
Gene namesⁱ	Name:MECP2
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome X

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000169057.19
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:6990 MECP2
MIMⁱ	300005 gene
neXtProtⁱ	NX_P51608

Keywords - Cellular componentⁱ

Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Angelman syndrome (AS)1 Publication

The disease may be caused by mutations affecting the gene represented in this entry.

Disease descriptionA neurodevelopmental disorder characterized by severe motor and intellectual retardation, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, open-mouthed expression revealing the tongue.

Mental retardation, X-linked, syndromic, 13 (MRXS13)10 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive 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.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_017581	137	E → G in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61748392EnsemblClinVar.	1
Natural variantⁱVAR_010279	140	A → V in MRXS13; impairs interaction with ATRX and abolishes ATRX recruitment to heterochromatin. 7 PublicationsCorresponds to variant dbSNP:rs28934908EnsemblClinVar.	1
Natural variantⁱVAR_018192	167	R → W in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61748420EnsemblClinVar.	1
Natural variantⁱVAR_037664	225	P → L in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61749715EnsemblClinVar.	1
Natural variantⁱVAR_018203	284	K → E in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61750255EnsemblClinVar.	1
Natural variantⁱVAR_037665	322	P → S in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61751449EnsemblClinVar.	1
Natural variantⁱVAR_018220	399	P → L in MRXS13; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs62915962EnsemblClinVar.	1
Natural variantⁱVAR_018225	453	R → Q in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61753980EnsemblClinVar.	1

Rett syndrome (RTT)28 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn X-linked dominant neurodevelopmental 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, mental retardation and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood.

Autism, X-linked 3 (AUTSX3)1 Publication

The disease may be caused by mutations affecting the gene represented in this entry.

Disease descriptionA complex multifactorial, pervasive developmental disorder 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. Most individuals with autism also manifest moderate mental retardation.

Encephalopathy, neonatal severe, due to MECP2 mutations (ENS-MECP2)1 Publication

The disease is caused by mutations affecting the gene represented in this entry. 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.

Disease descriptionA neurodevelopmental disorder characterized by severe neonatal encephalopathy, developmental delay, mental retardation, microcephaly, seizures. Additional features include respiratory insufficiency and central hypoventilation, gastroesophageal reflux, axial hypotonia, hyperreflexia and dyskinetic movements.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_017463	428	G → S in ENS-MECP2; uncertain pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs61753971EnsemblClinVar.		1

Mental retardation, X-linked, syndromic, Lubs type (MRXSL)1 Publication

The disease is caused by mutations affecting the gene represented in this entry. Increased dosage of MECP2 due to gene duplication appears to be responsible for the mental retardation phenotype.

Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive 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.

Keywords - Diseaseⁱ

Autism, Autism spectrum disorder, Disease mutation, Mental retardation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	4204
GeneReviewsⁱ	MECP2
MalaCards human disease database More...MalaCardsⁱ	MECP2
MIMⁱ	105830 phenotype 300055 phenotype 300260 phenotype 300496 phenotype 300673 phenotype 312750 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000169057
Orphanetⁱ	3095 Atypical Rett syndrome 106 Autism 778 Rett syndrome 209370 Severe neonatal-onset encephalopathy with microcephaly 536 Systemic lupus erythematosus 1762 Trisomy Xq28 3077 X-linked intellectual disability - psychosis - macroorchidism 777 X-linked non-syndromic intellectual disability
PharmGKBⁱ	PA30729

Chemistry databases

ChEMBLⁱ	CHEMBL3638346

ChEMBLⁱ

CHEMBL3638346

Polymorphism and mutation databases

BioMutaⁱ	MECP2
DMDMⁱ	1708973

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000096345	1 – 486	Methyl-CpG-binding protein 2Add BLAST		486

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	13	PhosphoserineBy similarity	1
Modified residueⁱ	80	PhosphoserineCombined sources	1
Modified residueⁱ	116	PhosphoserineCombined sources	1
Modified residueⁱ	162	Omega-N-methylarginineBy similarity	1
Modified residueⁱ	216	PhosphoserineCombined sources	1
Modified residueⁱ	229	PhosphoserineCombined sources	1
Modified residueⁱ	321	N6-acetyllysineBy similarity	1
Modified residueⁱ	423	PhosphoserineBy similarity	1
Modified residueⁱ	426	PhosphoserineCombined sources	1
Modified residueⁱ	449	N6-acetyllysineCombined sources	1

Post-translational modificationⁱ

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

Keywords - PTMⁱ

Acetylation, Methylation, Phosphoprotein

Proteomic databases

EPDⁱ	P51608
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P51608
PaxDbⁱ	P51608
PeptideAtlas More...PeptideAtlasⁱ	P51608
PRIDEⁱ	P51608
ProteomicsDBⁱ	56344 56345 [P51608-2]

PTM databases

iPTMnetⁱ	P51608
PhosphoSitePlusⁱ	P51608

Expressionⁱ

Tissue specificityⁱ

Present in all adult somatic tissues tested.

Gene expression databases

Bgeeⁱ	ENSG00000169057
CleanExⁱ	HS_MECP2
ExpressionAtlasⁱ	P51608 baseline and differential
Genevisibleⁱ	P51608 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB037264 HPA000593 HPA001341

HPAⁱ

CAB037264
HPA000593
HPA001341

Interactionⁱ

Subunit structureⁱ

Interacts with FNBP3 (By similarity). Interacts with CDKL5 (PubMed:15917271). Interacts with ATRX; MECP2 recruits ATRX to pericentric heterochromatin in neuronal cells (By similarity). Interacts with NCOR2 (By similarity). Interacts with TBL1XR1; bridges interaction between MECP2 and NCOR1 (PubMed:28348241). Interacts with TBL1X; recuits TBL1X to the heterochromatin foci (PubMed:28348241).By similarity2 Publications

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
HIPK2	Q9H2X6	2	EBI-1189067,EBI-348345
Hipk2	Q9QZR5	3	EBI-1189067,EBI-366905	From Mus musculus.
MAX	P61244	2	EBI-1189067,EBI-751711
Ncor1	Q60974	4	EBI-1189067,EBI-349004	From Mus musculus.
Ncor2	Q9WU42	4	EBI-1189067,EBI-6673326	From Mus musculus.
SIN3A	Q96ST3	2	EBI-1189067,EBI-347218
SMARCA2	P51531	4	EBI-1189067,EBI-679562
Tbl1x	Q9QXE7	3	EBI-1189067,EBI-8821270	From Mus musculus.
Tbl1xr1	Q8BHJ5	4	EBI-1189067,EBI-1216384	From Mus musculus.

Show more details

GO - Molecular functionⁱ

protein domain specific binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 11441023
protein N-terminus binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 11441023
transcription factor binding Source: Ensembl

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	110368, 169 interactors
CORUMⁱ	P51608
Database of interacting proteins More...DIPⁱ	DIP-39983N
IntActⁱ	P51608, 39 interactors
Molecular INTeraction database More...MINTⁱ	P51608
STRINGⁱ	9606.ENSP00000395535

Chemistry databases

BindingDBⁱ	P51608

BindingDBⁱ

P51608

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Show more details

Feature key	Position(s)	DescriptionActions	Length
Beta strandⁱ	95 – 97	Combined sources	3
Beta strandⁱ	100 – 103	Combined sources	4
Beta strandⁱ	105 – 110	Combined sources	6
Turnⁱ	115 – 118	Combined sources	4
Beta strandⁱ	120 – 125	Combined sources	6
Turnⁱ	127 – 129	Combined sources	3
Beta strandⁱ	130 – 134	Combined sources	5
Helixⁱ	135 – 144	Combined sources	10
Helixⁱ	152 – 154	Combined sources	3

3D structure databases

Database of protein disorder More...DisProtⁱ	DP00539
ProteinModelPortalⁱ	P51608
SMRⁱ	P51608
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	P51608

EvolutionaryTraceⁱ

P51608

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	90 – 162	MBDPROSITE-ProRule annotationAdd BLAST		73

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	269 – 309	Interaction with NCOR2By similarityAdd BLAST		41
Regionⁱ	285 – 309	Interaction with TBL1XR1By similarityAdd BLAST		25

Compositional bias

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Compositional biasⁱ	366 – 372	His-rich		7
Compositional biasⁱ	376 – 405	Pro-richAdd BLAST		30

Keywords - Domainⁱ

Repeat

Phylogenomic databases

eggNOGⁱ	KOG4161 Eukaryota ENOG41126JX LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00530000063687
HOGENOMⁱ	HOG000015809
HOVERGENⁱ	HBG052445
InParanoidⁱ	P51608
KEGG Orthology (KO) More...KOⁱ	K11588
OMAⁱ	KMPRAGS
PhylomeDBⁱ	P51608
TreeFamⁱ	TF332974

Family and domain databases

InterProⁱ	View protein in InterPro IPR016177 DNA-bd_dom_sf IPR017353 Me_CpG-bd_MeCP2 IPR001739 Methyl_CpG_DNA-bd
PANTHERⁱ	PTHR15074:SF4 PTHR15074:SF4, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF01429 MBD, 1 hit
PIRSFⁱ	PIRSF038006 Methyl_CpG_bd_MeCP2, 1 hit
SMARTⁱ	View protein in SMART SM00391 MBD, 1 hit
SUPFAMⁱ	SSF54171 SSF54171, 1 hit
PROSITEⁱ	View protein in PROSITE PS50982 MBD, 1 hit

Sequences (2)ⁱ

Sequence statusⁱ: Complete.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket Added to basket

Isoform A (identifier: P51608-1) [UniParc]FASTA Add to basket

Also known as: Beta

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MVAGMLGLRE EKSEDQDLQG LKDKPLKFKK VKKDKKEEKE GKHEPVQPSA 
        60         70         80         90        100
HHSAEPAEAG KAETSEGSGS APAVPEASAS PKQRRSIIRD RGPMYDDPTL 
       110        120        130        140        150
PEGWTRKLKQ RKSGRSAGKY DVYLINPQGK AFRSKVELIA YFEKVGDTSL 
       160        170        180        190        200
DPNDFDFTVT GRGSPSRREQ KPPKKPKSPK APGTGRGRGR PKGSGTTRPK 
       210        220        230        240        250
AATSEGVQVK RVLEKSPGKL LVKMPFQTSP GGKAEGGGAT TSTQVMVIKR 
       260        270        280        290        300
PGRKRKAEAD PQAIPKKRGR KPGSVVAAAA AEAKKKAVKE SSIRSVQETV 
       310        320        330        340        350
LPIKKRKTRE TVSIEVKEVV KPLLVSTLGE KSGKGLKTCK SPGRKSKESS 
       360        370        380        390        400
PKGRSSSASS PPKKEHHHHH HHSESPKAPV PLLPPLPPPP PEPESSEDPT 
       410        420        430        440        450
SPPEPQDLSS SVCKEEKMPR GGSLESDGCP KEPAKTQPAV ATAATAAEKY 
       460        470        480 
KHRGEGERKD IVSSSMPRPN REEPVDSRTP VTERVS

Length:486

Mass (Da):52,441

Last modified:October 1, 1996 - v1

Checksum:ⁱEB6A33233AEDA566

Isoform B (identifier: P51608-2) [UniParc]FASTA Add to basket

Also known as: Alpha

The sequence of this isoform differs from the canonical sequence as follows:
1-9: MVAGMLGLR → MAAAAAAAPSGGGGGGEEERL

« Hide

        10         20         30         40         50
MAAAAAAAPS GGGGGGEEER LEEKSEDQDL QGLKDKPLKF KKVKKDKKEE 
        60         70         80         90        100
KEGKHEPVQP SAHHSAEPAE AGKAETSEGS GSAPAVPEAS ASPKQRRSII 
       110        120        130        140        150
RDRGPMYDDP TLPEGWTRKL KQRKSGRSAG KYDVYLINPQ GKAFRSKVEL 
       160        170        180        190        200
IAYFEKVGDT SLDPNDFDFT VTGRGSPSRR EQKPPKKPKS PKAPGTGRGR 
       210        220        230        240        250
GRPKGSGTTR PKAATSEGVQ VKRVLEKSPG KLLVKMPFQT SPGGKAEGGG 
       260        270        280        290        300
ATTSTQVMVI KRPGRKRKAE ADPQAIPKKR GRKPGSVVAA AAAEAKKKAV 
       310        320        330        340        350
KESSIRSVQE TVLPIKKRKT RETVSIEVKE VVKPLLVSTL GEKSGKGLKT 
       360        370        380        390        400
CKSPGRKSKE SSPKGRSSSA SSPPKKEHHH HHHHSESPKA PVPLLPPLPP 
       410        420        430        440        450
PPPEPESSED PTSPPEPQDL SSSVCKEEKM PRGGSLESDG CPKEPAKTQP 
       460        470        480        490 
AVATAATAAE KYKHRGEGER KDIVSSSMPR PNREEPVDSR TPVTERVS

Note: Ten times higher expression levels than isoform A in brain.

Show »

Length:498

Mass (Da):53,323

Checksum:ⁱ443ECB3D5EA4DAB8

Sequence cautionⁱ

The sequence CAD97991 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	72 – 75	PAVP → RLC in CAA61599 (PubMed:8672133).Curated	4
Sequence conflictⁱ	290	E → G in CAA68001 (PubMed:8976388).Curated	1
Sequence conflictⁱ	466	M → V in CAD97991 (PubMed:17974005).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_018180	10	E → Q in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754421EnsemblClinVar.	1
Natural variantⁱVAR_018181	86	S → C1 PublicationCorresponds to variant dbSNP:rs61754445EnsemblClinVar.	1
Natural variantⁱVAR_023552	97	D → E in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754449EnsemblClinVar.	1
Natural variantⁱVAR_018182	97	D → Y in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754448EnsemblClinVar.	1
Natural variantⁱVAR_023553	100	L → R in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754451EnsemblClinVar.	1
Natural variantⁱVAR_017462	100	L → V in RTT. 3 PublicationsCorresponds to variant dbSNP:rs28935168EnsemblClinVar.	1
Natural variantⁱVAR_018183	101	P → H in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754453EnsemblClinVar.	1
Natural variantⁱVAR_018184	101	P → L in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754453EnsemblClinVar.	1
Natural variantⁱVAR_010276	101	P → R in RTT; also in a patient with Angelman syndrome and some typical RTT features. 2 PublicationsCorresponds to variant dbSNP:rs61754453EnsemblClinVar.	1
Natural variantⁱVAR_023554	101	P → S in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754452EnsemblClinVar.	1
Natural variantⁱVAR_018185	101	P → T in RTT. 1 Publication	1
Natural variantⁱVAR_018186	106	R → Q in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61754457EnsemblClinVar.	1
Natural variantⁱVAR_010272	106	R → W in RTT. 12 PublicationsCorresponds to variant dbSNP:rs28934907EnsemblClinVar.	1
Natural variantⁱVAR_018187	111	R → G in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754459EnsemblClinVar.	1
Natural variantⁱVAR_023555	120	Y → D in RTT. 1 PublicationCorresponds to variant dbSNP:rs267608454EnsemblClinVar.	1
Natural variantⁱVAR_010277	124	L → F in RTT. 1 PublicationCorresponds to variant dbSNP:rs61755763EnsemblClinVar.	1
Natural variantⁱVAR_018188	128	Q → P in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748383EnsemblClinVar.	1
Natural variantⁱVAR_010273	133	R → C in RTT; impairs interaction with ATRX and abolishes ATRX recruitment to heterochromatin. 16 PublicationsCorresponds to variant dbSNP:rs28934904EnsemblClinVar.	1
Natural variantⁱVAR_018189	133	R → H in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61748389EnsemblClinVar.	1
Natural variantⁱVAR_010278	134	S → C in RTT. 4 PublicationsCorresponds to variant dbSNP:rs61748390EnsemblClinVar.	1
Natural variantⁱVAR_018190	135	K → E in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748391EnsemblClinVar.	1
Natural variantⁱVAR_017581	137	E → G in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61748392EnsemblClinVar.	1
Natural variantⁱVAR_010279	140	A → V in MRXS13; impairs interaction with ATRX and abolishes ATRX recruitment to heterochromatin. 7 PublicationsCorresponds to variant dbSNP:rs28934908EnsemblClinVar.	1
Natural variantⁱVAR_010280	152	P → R in RTT. 9 PublicationsCorresponds to variant dbSNP:rs61748404EnsemblClinVar.	1
Natural variantⁱVAR_023556	155	F → I in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748406EnsemblClinVar.	1
Natural variantⁱVAR_010274	155	F → S in RTT. 3 PublicationsCorresponds to variant dbSNP:rs28934905EnsemblClinVar.	1
Natural variantⁱVAR_018191	156	D → G in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748407EnsemblClinVar.	1
Natural variantⁱVAR_023557	158	T → A in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61748411EnsemblClinVar.	1
Natural variantⁱVAR_010275	158	T → M in RTT. 17 PublicationsCorresponds to variant dbSNP:rs28934906EnsemblClinVar.	1
Natural variantⁱVAR_023558	161	G → V in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748417EnsemblClinVar.	1
Natural variantⁱVAR_018192	167	R → W in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61748420EnsemblClinVar.	1
Natural variantⁱVAR_018193	181	A → V1 PublicationCorresponds to variant dbSNP:rs61749705EnsemblClinVar.	1
Natural variantⁱVAR_018194	196	T → S1 PublicationCorresponds to variant dbSNP:rs61749713EnsemblClinVar.	1
Natural variantⁱVAR_018195	197	T → M2 PublicationsCorresponds to variant dbSNP:rs61749714EnsemblClinVar.	1
Natural variantⁱVAR_010281	201	A → V2 PublicationsCorresponds to variant dbSNP:rs61748381EnsemblClinVar.	1
Natural variantⁱVAR_018196	203	T → M2 PublicationsCorresponds to variant dbSNP:rs61749720EnsemblClinVar.	1
Natural variantⁱVAR_018197	210	K → I in RTT. 1 PublicationCorresponds to variant dbSNP:rs61749730EnsemblClinVar.	1
Natural variantⁱVAR_037664	225	P → L in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61749715EnsemblClinVar.	1
Natural variantⁱVAR_018198	225	P → R in RTT. 1 PublicationCorresponds to variant dbSNP:rs61749715EnsemblClinVar.	1
Natural variantⁱVAR_018199	228	T → S1 PublicationCorresponds to variant dbSNP:rs61749738EnsemblClinVar.	1
Natural variantⁱVAR_018200	229	S → L1 PublicationCorresponds to variant dbSNP:rs61749739EnsemblClinVar.	1
Natural variantⁱVAR_018201	232	G → A1 PublicationCorresponds to variant dbSNP:rs61748422EnsemblClinVar.	1
Natural variantⁱVAR_018202	251	P → L1 PublicationCorresponds to variant dbSNP:rs61750229EnsemblClinVar.	1
Natural variantⁱVAR_078720	270 – 486	Missing in RTT. 2 PublicationsAdd BLAST	217
Natural variantⁱVAR_018203	284	K → E in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61750255EnsemblClinVar.	1
Natural variantⁱVAR_018204	287	A → P1 PublicationCorresponds to variant dbSNP:rs61750257EnsemblClinVar.	1
Natural variantⁱVAR_018205	291	S → A1 PublicationCorresponds to variant dbSNP:rs61751360EnsemblClinVar.	1
Natural variantⁱVAR_018206	302	P → A in RTT. 1 PublicationCorresponds to variant dbSNP:rs61751373EnsemblClinVar.	1
Natural variantⁱVAR_018207	302	P → H in RTT. 1 PublicationCorresponds to variant dbSNP:rs61749723EnsemblClinVar.	1
Natural variantⁱVAR_018208	302	P → L in RTT. 1 PublicationCorresponds to variant dbSNP:rs61749723EnsemblClinVar.	1
Natural variantⁱVAR_018209	302	P → R in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61749723EnsemblClinVar.	1
Natural variantⁱVAR_078221	305	K → N Probable disease-associated mutation found in a patient with drug-resistant epilepsy with intellectual disability, parkinsonism and other neurologic symptoms. 1 PublicationCorresponds to variant dbSNP:rs1057519543Ensembl.	1
Natural variantⁱVAR_018210	305	K → R in RTT; abolishes interaction with TBL1X. 3 Publications

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UniProtKB - P51608 (MECP2_HUMAN)

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Methyl-CpG-binding protein 2

MECP2

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Regions

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<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

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Extracellular region or secreted

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Other locations

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Organism-specific databases

Chemistry databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Protein-protein interaction databases

Chemistry databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

Miscellaneous databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Region

Compositional bias

Phylogenomic databases

Family and domain databases

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Experimental Info

Natural variant

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence cautionⁱ