UniProtKB - P51608 (MECP2_HUMAN)
Methyl-CpG-binding protein 2
MECP2
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 similarityRegions
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: GO_Central
- DNA binding Source: GO_Central
- DNA-binding transcription factor activity Source: Ensembl
- double-stranded methylated DNA binding Source: MGI
- methyl-CpG binding Source: GO_Central
- mRNA binding Source: Ensembl
- promoter-specific chromatin binding Source: Ensembl
- protein domain specific binding Source: UniProtKB
- protein N-terminus binding Source: UniProtKB
- RNA binding Source: UniProtKB
- siRNA binding Source: Ensembl
- transcription corepressor activity Source: ARUK-UCL
GO - Biological processi
- adult locomotory behavior Source: Ensembl
- behavioral fear response Source: Ensembl
- cardiolipin metabolic process Source: Ensembl
- cellular biogenic amine metabolic process Source: Ensembl
- cerebellum development Source: Ensembl
- dendrite development Source: Ensembl
- excitatory postsynaptic potential Source: Ensembl
- glucocorticoid metabolic process Source: Ensembl
- glutamine metabolic process Source: Ensembl
- heterochromatin assembly Source: Ensembl
- histone acetylation Source: Ensembl
- histone methylation Source: Ensembl
- inositol metabolic process Source: Ensembl
- long-term memory Source: Ensembl
- long-term synaptic potentiation Source: Ensembl
- mitotic spindle organization Source: CAFA
- negative regulation of angiogenesis Source: BHF-UCL
- negative regulation of blood vessel endothelial cell migration Source: BHF-UCL
- negative regulation of gene expression Source: BHF-UCL
- 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
- negative regulation of transcription by RNA polymerase II Source: GO_Central
- negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation Source: Ensembl
- nervous system process involved in regulation of systemic arterial blood pressure Source: Ensembl
- neuron maturation Source: Ensembl
- phosphatidylcholine metabolic process Source: Ensembl
- positive regulation of cell population proliferation Source: CAFA
- positive regulation of DNA methylation Source: BHF-UCL
- positive regulation of G2/M transition of mitotic cell cycle Source: CAFA
- positive regulation of histone H3-K9 trimethylation Source: Ensembl
- positive regulation of microtubule nucleation Source: CAFA
- positive regulation of transcription by RNA polymerase II Source: Ensembl
- post-embryonic development Source: Ensembl
- proprioception Source: Ensembl
- protein localization Source: Ensembl
- regulation of gene expression by genetic imprinting Source: MGI
- regulation of respiratory gaseous exchange by nervous system process Source: Ensembl
- respiratory gaseous exchange by respiratory system Source: Ensembl
- response to hypoxia Source: Ensembl
- response to other organism Source: Ensembl
- sensory perception of pain Source: Ensembl
- social behavior Source: Ensembl
- startle response Source: Ensembl
- synapse assembly Source: Ensembl
- ventricular system development Source: Ensembl
- visual learning Source: Ensembl
Keywordsi
Molecular function | DNA-binding, Repressor |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | P51608 |
Reactomei | R-HSA-8986944, Transcriptional Regulation by MECP2 R-HSA-9022534, Loss of MECP2 binding ability to 5hmC-DNA R-HSA-9022535, Loss of phosphorylation of MECP2 at T308 R-HSA-9022537, Loss of MECP2 binding ability to the NCoR/SMRT complex R-HSA-9022538, Loss of MECP2 binding ability to 5mC-DNA R-HSA-9022692, Regulation of MECP2 expression and activity R-HSA-9022699, MECP2 regulates neuronal receptors and channels R-HSA-9022702, MECP2 regulates transcription of neuronal ligands R-HSA-9022707, MECP2 regulates transcription factors R-HSA-9022927, MECP2 regulates transcription of genes involved in GABA signaling R-HSA-9725371, Nuclear events stimulated by ALK signaling in cancer |
SignaLinki | P51608 |
SIGNORi | P51608 |
Names & Taxonomyi
Protein namesi | Recommended name: Methyl-CpG-binding protein 2Short name: MeCp-2 protein Short name: MeCp2 |
Gene namesi | Name:MECP2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:6990, MECP2 |
MIMi | 300005, gene |
neXtProti | NX_P51608 |
VEuPathDBi | HostDB:ENSG00000169057 |
Subcellular locationi
Nucleus
- Nucleus By similarity
Note: Colocalized with methyl-CpG in the genome. Colocalized with TBL1X to the heterochromatin foci.1 Publication
Cytoskeleton
- centrosome Source: CAFA
Cytosol
- cytosol Source: Ensembl
Extracellular region or secreted
- extracellular space Source: UniProtKB
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- heterochromatin Source: UniProtKB
- postsynapse Source: GOC
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Angelman syndrome (AS)1 Publication
Intellectual developmental disorder, X-linked, syndromic 13 (MRXS13)10 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_017581 | 137 | E → G in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61748392Ensembl. | 1 | |
Natural variantiVAR_010279 | 140 | A → V in MRXS13; impairs interaction with ATRX and abolishes ATRX recruitment to heterochromatin. 7 PublicationsCorresponds to variant dbSNP:rs28934908Ensembl. | 1 | |
Natural variantiVAR_018192 | 167 | R → W in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61748420Ensembl. | 1 | |
Natural variantiVAR_037664 | 225 | P → L in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61749715Ensembl. | 1 | |
Natural variantiVAR_018203 | 284 | K → E in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61750255Ensembl. | 1 | |
Natural variantiVAR_037665 | 322 | P → S in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61751449Ensembl. | 1 | |
Natural variantiVAR_018220 | 399 | P → L in MRXS13; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs62915962Ensembl. | 1 | |
Natural variantiVAR_018225 | 453 | R → Q in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61753980Ensembl. | 1 |
Rett syndrome (RTT)29 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_018180 | 10 | E → Q in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754421Ensembl. | 1 | |
Natural variantiVAR_023552 | 97 | D → E in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754449Ensembl. | 1 | |
Natural variantiVAR_018182 | 97 | D → Y in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754448Ensembl. | 1 | |
Natural variantiVAR_023553 | 100 | L → R in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754451Ensembl. | 1 | |
Natural variantiVAR_017462 | 100 | L → V in RTT. 3 PublicationsCorresponds to variant dbSNP:rs28935168Ensembl. | 1 | |
Natural variantiVAR_018183 | 101 | P → H in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754453Ensembl. | 1 | |
Natural variantiVAR_018184 | 101 | P → L in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754453Ensembl. | 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:rs61754453Ensembl. | 1 | |
Natural variantiVAR_023554 | 101 | P → S in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754452Ensembl. | 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:rs61754457Ensembl. | 1 | |
Natural variantiVAR_010272 | 106 | R → W in RTT. 12 PublicationsCorresponds to variant dbSNP:rs28934907Ensembl. | 1 | |
Natural variantiVAR_018187 | 111 | R → G in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754459Ensembl. | 1 | |
Natural variantiVAR_023555 | 120 | Y → D in RTT. 1 PublicationCorresponds to variant dbSNP:rs267608454Ensembl. | 1 | |
Natural variantiVAR_010277 | 124 | L → F in RTT. 1 PublicationCorresponds to variant dbSNP:rs61755763Ensembl. | 1 | |
Natural variantiVAR_018188 | 128 | Q → P in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748383Ensembl. | 1 | |
Natural variantiVAR_010273 | 133 | R → C in RTT; impairs interaction with ATRX and abolishes ATRX recruitment to heterochromatin. 16 PublicationsCorresponds to variant dbSNP:rs28934904Ensembl. | 1 | |
Natural variantiVAR_018189 | 133 | R → H in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61748389Ensembl. | 1 | |
Natural variantiVAR_010278 | 134 | S → C in RTT. 4 PublicationsCorresponds to variant dbSNP:rs61748390Ensembl. | 1 | |
Natural variantiVAR_018190 | 135 | K → E in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748391Ensembl. | 1 | |
Natural variantiVAR_010280 | 152 | P → R in RTT. 9 PublicationsCorresponds to variant dbSNP:rs61748404Ensembl. | 1 | |
Natural variantiVAR_023556 | 155 | F → I in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748406Ensembl. | 1 | |
Natural variantiVAR_010274 | 155 | F → S in RTT. 3 PublicationsCorresponds to variant dbSNP:rs28934905Ensembl. | 1 | |
Natural variantiVAR_018191 | 156 | D → G in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748407Ensembl. | 1 | |
Natural variantiVAR_023557 | 158 | T → A in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61748411Ensembl. | 1 | |
Natural variantiVAR_010275 | 158 | T → M in RTT. 17 PublicationsCorresponds to variant dbSNP:rs28934906Ensembl. | 1 | |
Natural variantiVAR_023558 | 161 | G → V in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748417Ensembl. | 1 | |
Natural variantiVAR_018197 | 210 | K → I in RTT. 1 PublicationCorresponds to variant dbSNP:rs61749730Ensembl. | 1 | |
Natural variantiVAR_018198 | 225 | P → R in RTT. 1 PublicationCorresponds to variant dbSNP:rs61749715Ensembl. | 1 | |
Natural variantiVAR_078720 | 270 – 486 | Missing in RTT. 2 PublicationsAdd BLAST | 217 | |
Natural variantiVAR_018206 | 302 | P → A in RTT. 1 PublicationCorresponds to variant dbSNP:rs61751373Ensembl. | 1 | |
Natural variantiVAR_018207 | 302 | P → H in RTT. 1 PublicationCorresponds to variant dbSNP:rs61749723Ensembl. | 1 | |
Natural variantiVAR_018208 | 302 | P → L in RTT. 1 PublicationCorresponds to variant dbSNP:rs61749723Ensembl. | 1 | |
Natural variantiVAR_018209 | 302 | P → R in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61749723Ensembl. | 1 | |
Natural variantiVAR_018210 | 305 | K → R in RTT; abolishes interaction with TBL1X. 3 PublicationsCorresponds to variant dbSNP:rs61751441Ensembl. | 1 | |
Natural variantiVAR_010282 | 306 | R → C in RTT; abolishes interaction with TBL1X and TBL1XR1. 17 PublicationsCorresponds to variant dbSNP:rs28935468Ensembl. | 1 | |
Natural variantiVAR_018211 | 306 | R → H in RTT. 3 PublicationsCorresponds to variant dbSNP:rs61751443Ensembl. | 1 | |
Natural variantiVAR_018212 | 322 | P → A in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61751449Ensembl. | 1 | |
Natural variantiVAR_018213 | 322 | P → L in RTT. 1 PublicationCorresponds to variant dbSNP:rs61751450Ensembl. | 1 | |
Natural variantiVAR_018214 | 344 | R → W in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61752361Ensembl. | 1 | |
Natural variantiVAR_018218 | 388 | P → S in RTT; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs61753000Ensembl. | 1 |
Autism, X-linked 3 (AUTSX3)1 Publication
Encephalopathy, neonatal severe, due to MECP2 mutations (ENS-MECP2)1 Publication
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:rs61753971Ensembl. | 1 |
Intellectual developmental disorder, X-linked, syndromic, Lubs type (MRXSL)1 Publication
Keywords - Diseasei
Autism, Autism spectrum disorder, Disease variant, Mental retardationOrganism-specific databases
DisGeNETi | 4204 |
GeneReviewsi | MECP2 |
MalaCardsi | MECP2 |
MIMi | 105830, phenotype 300055, phenotype 300260, phenotype 300496, phenotype 300673, phenotype 312750, phenotype |
OpenTargetsi | ENSG00000169057 |
Orphaneti | 3095, Atypical Rett syndrome 106, NON RARE IN EUROPE: Autism 1762, Proximal Xq28 duplication syndrome 778, Rett syndrome 209370, Severe neonatal-onset encephalopathy with microcephaly 536, Systemic lupus erythematosus 3077, X-linked intellectual disability-psychosis-macroorchidism syndrome 777, X-linked non-syndromic intellectual disability |
PharmGKBi | PA30729 |
Miscellaneous databases
Pharosi | P51608, Tchem |
Chemistry databases
ChEMBLi | CHEMBL3638346 |
Genetic variation 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 | Graphical view | 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
Keywords - PTMi
Acetylation, Methylation, PhosphoproteinProteomic databases
EPDi | P51608 |
jPOSTi | P51608 |
MassIVEi | P51608 |
MaxQBi | P51608 |
PaxDbi | P51608 |
PeptideAtlasi | P51608 |
PRIDEi | P51608 |
ProteomicsDBi | 56344 [P51608-1] 56345 [P51608-2] |
PTM databases
GlyGeni | P51608, 2 sites, 1 O-linked glycan (2 sites) |
iPTMneti | P51608 |
MetOSitei | P51608 |
PhosphoSitePlusi | P51608 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000169057, Expressed in cerebellar vermis and 231 other tissues |
ExpressionAtlasi | P51608, baseline and differential |
Genevisiblei | P51608, HS |
Organism-specific databases
HPAi | ENSG00000169057, Low tissue specificity |
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; recruits TBL1X to the heterochromatin foci (PubMed:28348241).
By similarity2 PublicationsBinary interactionsi
P51608
Isoform A [P51608-1]
With | #Exp. | IntAct |
---|---|---|
Dnmt3a [O88508] from Mus musculus. | 10 | EBI-26687319,EBI-995154 |
GO - Molecular functioni
- protein domain specific binding Source: UniProtKB
- protein N-terminus binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 110368, 237 interactors |
CORUMi | P51608 |
DIPi | DIP-39983N |
IntActi | P51608, 187 interactors |
MINTi | P51608 |
STRINGi | 9606.ENSP00000395535 |
Chemistry databases
BindingDBi | P51608 |
Miscellaneous databases
RNActi | P51608, protein |
Structurei
Secondary structure
3D structure databases
BMRBi | P51608 |
SMRi | P51608 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
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 | 1 – 119 | DisorderedSequence analysisAdd BLAST | 119 | |
Regioni | 147 – 275 | DisorderedSequence analysisAdd BLAST | 129 | |
Regioni | 269 – 309 | Interaction with NCOR2By similarityAdd BLAST | 41 | |
Regioni | 285 – 309 | Interaction with TBL1XR1By similarityAdd BLAST | 25 | |
Regioni | 324 – 486 | DisorderedSequence analysisAdd BLAST | 163 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 8 – 49 | Basic and acidic residuesSequence analysisAdd BLAST | 42 | |
Compositional biasi | 83 – 109 | Basic and acidic residuesSequence analysisAdd BLAST | 27 | |
Compositional biasi | 251 – 267 | Basic and acidic residuesSequence analysisAdd BLAST | 17 | |
Compositional biasi | 378 – 400 | Pro residuesSequence analysisAdd BLAST | 23 | |
Compositional biasi | 448 – 486 | Basic and acidic residuesSequence analysisAdd BLAST | 39 |
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG4161, Eukaryota |
GeneTreei | ENSGT00530000063687 |
HOGENOMi | CLU_045066_0_0_1 |
InParanoidi | P51608 |
OMAi | CTKEPAK |
OrthoDBi | 912212at2759 |
PhylomeDBi | P51608 |
TreeFami | TF332974 |
Family and domain databases
DisProti | DP00539 |
InterProi | View protein in InterPro IPR016177, DNA-bd_dom_sf IPR017353, Me_CpG-bd_MeCP2 IPR045138, MeCP2/MBD4 IPR001739, Methyl_CpG_DNA-bd |
PANTHERi | PTHR15074, PTHR15074, 1 hit |
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 |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB5MCB4 | B5MCB4_HUMAN | Methyl-CpG-binding protein 2 | MECP2 | 184 | Annotation score: | ||
A0A0D9SFX7 | A0A0D9SFX7_HUMAN | Methyl-CpG-binding protein 2 | MECP2 | 172 | Annotation score: | ||
C9JH89 | C9JH89_HUMAN | Methyl-CpG-binding protein 2 | MECP2 | 49 | Annotation score: | ||
A0A0D9SEX1 | A0A0D9SEX1_HUMAN | Methyl-CpG-binding protein 2 | MECP2 | 41 | Annotation score: | ||
A0A1B0GTV0 | A0A1B0GTV0_HUMAN | Methyl-CpG-binding protein 2 | MECP2 | 53 | Annotation score: | ||
A0A6Q8PF93 | A0A6Q8PF93_HUMAN | Methyl-CpG-binding protein 2 | MECP2 | 61 | Annotation score: | ||
A0A6Q8PHQ3 | A0A6Q8PHQ3_HUMAN | Methyl-CpG-binding protein 2 | MECP2 | 58 | Annotation score: | ||
H7BY72 | H7BY72_HUMAN | Methyl-CpG-binding protein 2 | MECP2 | 37 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | 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 | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_018180 | 10 | E → Q in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754421Ensembl. | 1 | |
Natural variantiVAR_018181 | 86 | S → C1 PublicationCorresponds to variant dbSNP:rs61754445Ensembl. | 1 | |
Natural variantiVAR_023552 | 97 | D → E in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754449Ensembl. | 1 | |
Natural variantiVAR_018182 | 97 | D → Y in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754448Ensembl. | 1 | |
Natural variantiVAR_023553 | 100 | L → R in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754451Ensembl. | 1 | |
Natural variantiVAR_017462 | 100 | L → V in RTT. 3 PublicationsCorresponds to variant dbSNP:rs28935168Ensembl. | 1 | |
Natural variantiVAR_018183 | 101 | P → H in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754453Ensembl. | 1 | |
Natural variantiVAR_018184 | 101 | P → L in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754453Ensembl. | 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:rs61754453Ensembl. | 1 | |
Natural variantiVAR_023554 | 101 | P → S in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754452Ensembl. | 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:rs61754457Ensembl. | 1 | |
Natural variantiVAR_010272 | 106 | R → W in RTT. 12 PublicationsCorresponds to variant dbSNP:rs28934907Ensembl. | 1 | |
Natural variantiVAR_018187 | 111 | R → G in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754459Ensembl. | 1 | |
Natural variantiVAR_023555 | 120 | Y → D in RTT. 1 PublicationCorresponds to variant dbSNP:rs267608454Ensembl. | 1 | |
Natural variantiVAR_010277 | 124 | L → F in RTT. 1 PublicationCorresponds to variant dbSNP:rs61755763Ensembl. | 1 | |
Natural variantiVAR_018188 | 128 | Q → P in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748383Ensembl. | 1 | |
Natural variantiVAR_010273 | 133 | R → C in RTT; impairs interaction with ATRX and abolishes ATRX recruitment to heterochromatin. 16 PublicationsCorresponds to variant dbSNP:rs28934904Ensembl. | 1 | |
Natural variantiVAR_018189 | 133 | R → H in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61748389Ensembl. | 1 | |
Natural variantiVAR_010278 | 134 | S → C in RTT. 4 PublicationsCorresponds to variant dbSNP:rs61748390Ensembl. | 1 | |
Natural variantiVAR_018190 | 135 | K → E in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748391Ensembl. | 1 | |
Natural variantiVAR_017581 | 137 | E → G in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61748392Ensembl. | 1 | |
Natural variantiVAR_010279 | 140 | A → V in MRXS13; impairs interaction with ATRX and abolishes ATRX recruitment to heterochromatin. 7 PublicationsCorresponds to variant dbSNP:rs28934908Ensembl. | 1 | |
Natural variantiVAR_010280 | 152 | P → R in RTT. 9 PublicationsCorresponds to variant dbSNP:rs61748404Ensembl. | 1 | |
Natural variantiVAR_023556 | 155 | F → I in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748406Ensembl. | 1 | |
Natural variantiVAR_010274 | 155 | F → S in RTT. 3 PublicationsCorresponds to variant dbSNP:rs28934905Ensembl. | 1 | |
Natural variantiVAR_018191 | 156 | D → G in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748407Ensembl. | 1 | |
Natural variantiVAR_023557 | 158 | T → A in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61748411Ensembl. | 1 | |
Natural variantiVAR_010275 | 158 | T → M in RTT. 17 PublicationsCorresponds to variant dbSNP:rs28934906Ensembl. | 1 | |
Natural variantiVAR_023558 | 161 | G → V in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748417Ensembl. | 1 | |
Natural variantiVAR_018192 | 167 | R → W in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61748420Ensembl. | 1 | |
Natural variantiVAR_018193 | 181 | A → V1 PublicationCorresponds to variant dbSNP:rs61749705Ensembl. | 1 | |
Natural variantiVAR_018194 | 196 | T → S1 PublicationCorresponds to variant dbSNP:rs61749713Ensembl. | 1 | |
Natural variantiVAR_018195 | 197 | T → M2 PublicationsCorresponds to variant dbSNP:rs61749714Ensembl. | 1 | |
Natural variantiVAR_010281 | 201 | A → V2 PublicationsCorresponds to variant dbSNP:rs61748381Ensembl. | 1 | |
Natural variantiVAR_018196 | 203 | T → M2 PublicationsCorresponds to variant dbSNP:rs61749720Ensembl. | 1 | |
Natural variantiVAR_018197 | 210 | K → I in RTT. 1 PublicationCorresponds to variant dbSNP:rs61749730Ensembl. | 1 | |
Natural variantiVAR_037664 | 225 | P → L in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61749715Ensembl. | 1 | |
Natural variantiVAR_018198 | 225 | P → R in RTT. 1 PublicationCorresponds to variant dbSNP:rs61749715Ensembl. | 1 | |
Natural variantiVAR_018199 | 228 | T → S1 PublicationCorresponds to variant dbSNP:rs61749738Ensembl. | 1 | |
Natural variantiVAR_018200 | 229 | S → L1 PublicationCorresponds to variant dbSNP:rs61749739Ensembl. | 1 | |
Natural variantiVAR_018201 | 232 | G → A1 PublicationCorresponds to variant dbSNP:rs61748422Ensembl. | 1 | |
Natural variantiVAR_018202 | 251 | P → L1 PublicationCorresponds to variant dbSNP:rs61750229Ensembl. | 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:rs61750255Ensembl. | 1 | |
Natural variantiVAR_018204 | 287 | A → P1 PublicationCorresponds to variant dbSNP:rs61750257Ensembl. | 1 | |
Natural variantiVAR_018205 | 291 | S → A1 PublicationCorresponds to variant dbSNP:rs61751360Ensembl. | 1 | |
Natural variantiVAR_018206 | 302 | P → A in RTT. 1 PublicationCorresponds to variant dbSNP:rs61751373Ensembl. | 1 | |
Natural variantiVAR_018207 | 302 | P → H in RTT. 1 PublicationCorresponds to variant dbSNP:rs61749723Ensembl. | 1 | |
Natural variantiVAR_018208 | 302 | P → L in RTT. 1 PublicationCorresponds to variant dbSNP:rs61749723Ensembl. | 1 | |
Natural variantiVAR_018209 | 302 | P → R in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61749723Ensembl. | 1 | |
Natural variantiVAR_078221 | 305 | K → N Probable disease-associated variant 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 PublicationsCorresponds to variant dbSNP:rs61751441Ensembl. | 1 | |
Natural variantiVAR_010282 | 306 | R → C in RTT; abolishes interaction with TBL1X and TBL1XR1. 17 Publications |