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Protein

Methyl-CpG-binding protein 2

Gene

MECP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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 keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi185 – 197A.T hook 1Add BLAST13
DNA bindingi265 – 277A.T hook 2Add BLAST13

GO - Molecular functioni

  • chromatin binding Source: Ensembl
  • DNA binding Source: ProtInc
  • double-stranded methylated DNA binding Source: MGI
  • methyl-CpG binding Source: GO_Central
  • mRNA binding Source: Ensembl
  • poly(A) RNA binding Source: UniProtKB
  • protein domain specific binding Source: UniProtKB
  • protein N-terminus binding Source: UniProtKB
  • siRNA binding Source: Ensembl
  • transcription corepressor activity Source: ProtInc
  • transcription factor activity, sequence-specific DNA binding Source: Ensembl

GO - Biological processi

Complete GO annotation...

Keywordsi

Molecular functionDNA-binding, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

BioCyciZFISH:ENSG00000169057-MONOMER.
SignaLinkiP51608.

Names & Taxonomyi

Protein namesi
Recommended name:
Methyl-CpG-binding protein 2
Short name:
MeCp-2 protein
Short name:
MeCp2
Gene namesi
Name:MECP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:6990. MECP2.

Subcellular locationi

  • Nucleus

  • Note: Colocalized with methyl-CpG in the genome.

GO - Cellular componenti

  • cytosol Source: GO_Central
  • extracellular space Source: UniProtKB
  • heterochromatin Source: UniProtKB
  • mitochondrion Source: GOC
  • nucleus Source: UniProtKB
  • postsynapse Source: GOC

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.
See also OMIM:105830
Mental retardation, X-linked, syndromic, 13 (MRXS13)9 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.
See also OMIM:300055
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017581137E → G in MRXS13. Corresponds to variant dbSNP:rs617483921 PublicationEnsembl.1
Natural variantiVAR_010279140A → V in MRXS13; impairs interaction with ATRX and abolishes ATRX recruitment to heterochromatin. Corresponds to variant dbSNP:rs289349087 PublicationsEnsembl.1
Natural variantiVAR_018192167R → W in MRXS13. Corresponds to variant dbSNP:rs617484201 PublicationEnsembl.1
Natural variantiVAR_037664225P → L in MRXS13. Corresponds to variant dbSNP:rs617497151 PublicationEnsembl.1
Natural variantiVAR_018203284K → E in MRXS13. Corresponds to variant dbSNP:rs617502551 PublicationEnsembl.1
Natural variantiVAR_037665322P → S in MRXS13. Corresponds to variant dbSNP:rs617514491 PublicationEnsembl.1
Natural variantiVAR_018220399P → L in MRXS13; unknown pathological significance. Corresponds to variant dbSNP:rs629159622 PublicationsEnsembl.1
Natural variantiVAR_018225453R → Q in MRXS13. Corresponds to variant dbSNP:rs617539801 PublicationEnsembl.1
Rett syndrome (RTT)22 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.
See also OMIM:312750
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01818010E → Q in RTT. Corresponds to variant dbSNP:rs617544211 PublicationEnsembl.1
Natural variantiVAR_02355297D → E in RTT. Corresponds to variant dbSNP:rs617544491 PublicationEnsembl.1
Natural variantiVAR_01818297D → Y in RTT. Corresponds to variant dbSNP:rs617544481 PublicationEnsembl.1
Natural variantiVAR_023553100L → R in RTT. Corresponds to variant dbSNP:rs617544511 PublicationEnsembl.1
Natural variantiVAR_017462100L → V in RTT. Corresponds to variant dbSNP:rs289351683 PublicationsEnsembl.1
Natural variantiVAR_018183101P → H in RTT. Corresponds to variant dbSNP:rs617544531 PublicationEnsembl.1
Natural variantiVAR_018184101P → L in RTT. Corresponds to variant dbSNP:rs617544531 PublicationEnsembl.1
Natural variantiVAR_010276101P → R in RTT; also in a patient with Angelman syndrome and some typical RTT features. Corresponds to variant dbSNP:rs617544532 PublicationsEnsembl.1
Natural variantiVAR_023554101P → S in RTT. Corresponds to variant dbSNP:rs617544521 PublicationEnsembl.1
Natural variantiVAR_018185101P → T in RTT. 1 Publication1
Natural variantiVAR_018186106R → Q in RTT. Corresponds to variant dbSNP:rs617544572 PublicationsEnsembl.1
Natural variantiVAR_010272106R → W in RTT. Corresponds to variant dbSNP:rs2893490712 PublicationsEnsembl.1
Natural variantiVAR_018187111R → G in RTT. Corresponds to variant dbSNP:rs617544591 PublicationEnsembl.1
Natural variantiVAR_023555120Y → D in RTT. Corresponds to variant dbSNP:rs2676084541 PublicationEnsembl.1
Natural variantiVAR_010277124L → F in RTT. Corresponds to variant dbSNP:rs617557631 PublicationEnsembl.1
Natural variantiVAR_018188128Q → P in RTT. Corresponds to variant dbSNP:rs617483831 PublicationEnsembl.1
Natural variantiVAR_010273133R → C in RTT; impairs interaction with ATRX and abolishes ATRX recruitment to heterochromatin. Corresponds to variant dbSNP:rs2893490414 PublicationsEnsembl.1
Natural variantiVAR_018189133R → H in RTT. Corresponds to variant dbSNP:rs617483892 PublicationsEnsembl.1
Natural variantiVAR_010278134S → C in RTT. Corresponds to variant dbSNP:rs617483904 PublicationsEnsembl.1
Natural variantiVAR_018190135K → E in RTT. Corresponds to variant dbSNP:rs617483911 PublicationEnsembl.1
Natural variantiVAR_010280152P → R in RTT. Corresponds to variant dbSNP:rs617484049 PublicationsEnsembl.1
Natural variantiVAR_023556155F → I in RTT. Corresponds to variant dbSNP:rs617484061 PublicationEnsembl.1
Natural variantiVAR_010274155F → S in RTT. Corresponds to variant dbSNP:rs289349053 PublicationsEnsembl.1
Natural variantiVAR_018191156D → G in RTT. Corresponds to variant dbSNP:rs617484071 PublicationEnsembl.1
Natural variantiVAR_023557158T → A in RTT. Corresponds to variant dbSNP:rs617484112 PublicationsEnsembl.1
Natural variantiVAR_010275158T → M in RTT. Corresponds to variant dbSNP:rs2893490617 PublicationsEnsembl.1
Natural variantiVAR_023558161G → V in RTT. Corresponds to variant dbSNP:rs617484171 PublicationEnsembl.1
Natural variantiVAR_018197210K → I in RTT. Corresponds to variant dbSNP:rs617497301 PublicationEnsembl.1
Natural variantiVAR_018198225P → R in RTT. Corresponds to variant dbSNP:rs617497151 PublicationEnsembl.1
Natural variantiVAR_018206302P → A in RTT. Corresponds to variant dbSNP:rs617513731 PublicationEnsembl.1
Natural variantiVAR_018207302P → H in RTT. Corresponds to variant dbSNP:rs617497231 PublicationEnsembl.1
Natural variantiVAR_018208302P → L in RTT. Corresponds to variant dbSNP:rs617497231 PublicationEnsembl.1
Natural variantiVAR_018209302P → R in RTT. Corresponds to variant dbSNP:rs617497232 PublicationsEnsembl.1
Natural variantiVAR_018210305K → R in RTT. Corresponds to variant dbSNP:rs617514412 PublicationsEnsembl.1
Natural variantiVAR_010282306R → C in RTT. Corresponds to variant dbSNP:rs2893546815 PublicationsEnsembl.1
Natural variantiVAR_018211306R → H in RTT. Corresponds to variant dbSNP:rs617514433 PublicationsEnsembl.1
Natural variantiVAR_018212322P → A in RTT. Corresponds to variant dbSNP:rs617514492 PublicationsEnsembl.1
Natural variantiVAR_018213322P → L in RTT. Corresponds to variant dbSNP:rs617514501 PublicationEnsembl.1
Natural variantiVAR_018214344R → W in RTT. Corresponds to variant dbSNP:rs617523611 PublicationEnsembl.1
Natural variantiVAR_018216376P → S in a RTT patient; unknown pathological significance. Corresponds to variant dbSNP:rs617523874 PublicationsEnsembl.1
Natural variantiVAR_018218388P → S in a RTT patient. Corresponds to variant dbSNP:rs617530001 PublicationEnsembl.1
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.
See also OMIM:300496
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.
See also OMIM:300673
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017463428G → S in ENS-MECP2; uncertain pathological significance. Corresponds to variant dbSNP:rs617539712 PublicationsEnsembl.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.
See also OMIM:300260

Keywords - Diseasei

Autism, Autism spectrum disorder, Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi4204.
MalaCardsiMECP2.
MIMi105830. phenotype.
300055. phenotype.
300260. phenotype.
300496. phenotype.
300673. phenotype.
312750. phenotype.
OpenTargetsiENSG00000169057.
Orphaneti3095. 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.
PharmGKBiPA30729.

Chemistry databases

ChEMBLiCHEMBL3638346.

Polymorphism and mutation databases

BioMutaiMECP2.
DMDMi1708973.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000963451 – 486Methyl-CpG-binding protein 2Add BLAST486

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei13PhosphoserineBy similarity1
Modified residuei80PhosphoserineCombined sources1
Modified residuei116PhosphoserineCombined sources1
Modified residuei162Omega-N-methylarginineBy similarity1
Modified residuei216PhosphoserineCombined sources1
Modified residuei229PhosphoserineCombined sources1
Modified residuei321N6-acetyllysineBy similarity1
Modified residuei423PhosphoserineBy similarity1
Modified residuei426PhosphoserineCombined sources1
Modified residuei449N6-acetyllysineCombined sources1

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

EPDiP51608.
MaxQBiP51608.
PaxDbiP51608.
PeptideAtlasiP51608.
PRIDEiP51608.

PTM databases

iPTMnetiP51608.
PhosphoSitePlusiP51608.

Expressioni

Tissue specificityi

Present in all adult somatic tissues tested.

Gene expression databases

BgeeiENSG00000169057.
CleanExiHS_MECP2.
ExpressionAtlasiP51608. baseline and differential.
GenevisibleiP51608. HS.

Organism-specific databases

HPAiCAB037264.
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).By similarity1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

  • protein domain specific binding Source: UniProtKB
  • protein N-terminus binding Source: UniProtKB

Protein-protein interaction databases

BioGridi110368. 157 interactors.
DIPiDIP-39983N.
IntActiP51608. 26 interactors.
MINTiMINT-3019066.
STRINGi9606.ENSP00000395535.

Chemistry databases

BindingDBiP51608.

Structurei

Secondary structure

1486
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi95 – 97Combined sources3
Beta strandi100 – 103Combined sources4
Beta strandi105 – 110Combined sources6
Turni115 – 118Combined sources4
Beta strandi120 – 125Combined sources6
Turni127 – 129Combined sources3
Beta strandi130 – 134Combined sources5
Helixi135 – 144Combined sources10
Helixi152 – 154Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1QK9NMR-A77-166[»]
3C2IX-ray2.50A77-167[»]
5BT2X-ray2.20A77-167[»]
DisProtiDP00539.
ProteinModelPortaliP51608.
SMRiP51608.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP51608.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini90 – 162MBDPROSITE-ProRule annotationAdd BLAST73

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni269 – 309Interaction with NCOR2By similarityAdd BLAST41

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi366 – 372His-rich7
Compositional biasi376 – 405Pro-richAdd BLAST30

Sequence similaritiesi

Contains 2 A.T hook DNA-binding domains.Curated
Contains 1 MBD (methyl-CpG-binding) domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG4161. Eukaryota.
ENOG41126JX. LUCA.
GeneTreeiENSGT00530000063687.
HOGENOMiHOG000015809.
HOVERGENiHBG052445.
InParanoidiP51608.
KOiK11588.
PhylomeDBiP51608.
TreeFamiTF332974.

Family and domain databases

Gene3Di3.30.890.10. 1 hit.
InterProiIPR016177. DNA-bd_dom.
IPR017353. Me_CpG-bd_MeCP2.
IPR001739. Methyl_CpG_DNA-bd.
[Graphical view]
PfamiPF01429. MBD. 1 hit.
[Graphical view]
PIRSFiPIRSF038006. Methyl_CpG_bd_MeCP2. 1 hit.
SMARTiSM00391. MBD. 1 hit.
[Graphical view]
SUPFAMiSSF54171. SSF54171. 1 hit.
PROSITEiPS50982. MBD. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform A (identifier: P51608-1) [UniParc]FASTAAdd 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
GO
Isoform B (identifier: P51608-2) [UniParc]FASTAAdd to basket
Also known as: Alpha

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

Note: Ten times higher expression levels than isoform A in brain.
Show »
Length:498
Mass (Da):53,323
Checksum:i443ECB3D5EA4DAB8
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti72 – 75PAVP → RLC in CAA61599 (PubMed:8672133).Curated4
Sequence conflicti290E → G in CAA68001 (PubMed:8976388).Curated1
Sequence conflicti466M → V in CAD97991 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01818010E → Q in RTT. Corresponds to variant dbSNP:rs617544211 PublicationEnsembl.1
Natural variantiVAR_01818186S → C. Corresponds to variant dbSNP:rs617544451 PublicationEnsembl.1
Natural variantiVAR_02355297D → E in RTT. Corresponds to variant dbSNP:rs617544491 PublicationEnsembl.1
Natural variantiVAR_01818297D → Y in RTT. Corresponds to variant dbSNP:rs617544481 PublicationEnsembl.1
Natural variantiVAR_023553100L → R in RTT. Corresponds to variant dbSNP:rs617544511 PublicationEnsembl.1
Natural variantiVAR_017462100L → V in RTT. Corresponds to variant dbSNP:rs289351683 PublicationsEnsembl.1
Natural variantiVAR_018183101P → H in RTT. Corresponds to variant dbSNP:rs617544531 PublicationEnsembl.1
Natural variantiVAR_018184101P → L in RTT. Corresponds to variant dbSNP:rs617544531 PublicationEnsembl.1
Natural variantiVAR_010276101P → R in RTT; also in a patient with Angelman syndrome and some typical RTT features. Corresponds to variant dbSNP:rs617544532 PublicationsEnsembl.1
Natural variantiVAR_023554101P → S in RTT. Corresponds to variant dbSNP:rs617544521 PublicationEnsembl.1
Natural variantiVAR_018185101P → T in RTT. 1 Publication1
Natural variantiVAR_018186106R → Q in RTT. Corresponds to variant dbSNP:rs617544572 PublicationsEnsembl.1
Natural variantiVAR_010272106R → W in RTT. Corresponds to variant dbSNP:rs2893490712 PublicationsEnsembl.1
Natural variantiVAR_018187111R → G in RTT. Corresponds to variant dbSNP:rs617544591 PublicationEnsembl.1
Natural variantiVAR_023555120Y → D in RTT. Corresponds to variant dbSNP:rs2676084541 PublicationEnsembl.1
Natural variantiVAR_010277124L → F in RTT. Corresponds to variant dbSNP:rs617557631 PublicationEnsembl.1
Natural variantiVAR_018188128Q → P in RTT. Corresponds to variant dbSNP:rs617483831 PublicationEnsembl.1
Natural variantiVAR_010273133R → C in RTT; impairs interaction with ATRX and abolishes ATRX recruitment to heterochromatin. Corresponds to variant dbSNP:rs2893490414 PublicationsEnsembl.1
Natural variantiVAR_018189133R → H in RTT. Corresponds to variant dbSNP:rs617483892 PublicationsEnsembl.1
Natural variantiVAR_010278134S → C in RTT. Corresponds to variant dbSNP:rs617483904 PublicationsEnsembl.1
Natural variantiVAR_018190135K → E in RTT. Corresponds to variant dbSNP:rs617483911 PublicationEnsembl.1
Natural variantiVAR_017581137E → G in MRXS13. Corresponds to variant dbSNP:rs617483921 PublicationEnsembl.1
Natural variantiVAR_010279140A → V in MRXS13; impairs interaction with ATRX and abolishes ATRX recruitment to heterochromatin. Corresponds to variant dbSNP:rs289349087 PublicationsEnsembl.1
Natural variantiVAR_010280152P → R in RTT. Corresponds to variant dbSNP:rs617484049 PublicationsEnsembl.1
Natural variantiVAR_023556155F → I in RTT. Corresponds to variant dbSNP:rs617484061 PublicationEnsembl.1
Natural variantiVAR_010274155F → S in RTT. Corresponds to variant dbSNP:rs289349053 PublicationsEnsembl.1
Natural variantiVAR_018191156D → G in RTT. Corresponds to variant dbSNP:rs617484071 PublicationEnsembl.1
Natural variantiVAR_023557158T → A in RTT. Corresponds to variant dbSNP:rs617484112 PublicationsEnsembl.1
Natural variantiVAR_010275158T → M in RTT. Corresponds to variant dbSNP:rs2893490617 PublicationsEnsembl.1
Natural variantiVAR_023558161G → V in RTT. Corresponds to variant dbSNP:rs617484171 PublicationEnsembl.1
Natural variantiVAR_018192167R → W in MRXS13. Corresponds to variant dbSNP:rs617484201 PublicationEnsembl.1
Natural variantiVAR_018193181A → V. Corresponds to variant dbSNP:rs617497051 PublicationEnsembl.1
Natural variantiVAR_018194196T → S. Corresponds to variant dbSNP:rs617497131 PublicationEnsembl.1
Natural variantiVAR_018195197T → M. Corresponds to variant dbSNP:rs617497142 PublicationsEnsembl.1
Natural variantiVAR_010281201A → V. Corresponds to variant dbSNP:rs617483812 PublicationsEnsembl.1
Natural variantiVAR_018196203T → M. Corresponds to variant dbSNP:rs617497202 PublicationsEnsembl.1
Natural variantiVAR_018197210K → I in RTT. Corresponds to variant dbSNP:rs617497301 PublicationEnsembl.1
Natural variantiVAR_037664225P → L in MRXS13. Corresponds to variant dbSNP:rs617497151 PublicationEnsembl.1
Natural variantiVAR_018198225P → R in RTT. Corresponds to variant dbSNP:rs617497151 PublicationEnsembl.1
Natural variantiVAR_018199228T → S. Corresponds to variant dbSNP:rs617497381 PublicationEnsembl.1
Natural variantiVAR_018200229S → L. Corresponds to variant dbSNP:rs617497391 PublicationEnsembl.1
Natural variantiVAR_018201232G → A. Corresponds to variant dbSNP:rs617484221 PublicationEnsembl.1
Natural variantiVAR_018202251P → L. Corresponds to variant dbSNP:rs617502291 PublicationEnsembl.1
Natural variantiVAR_018203284K → E in MRXS13. Corresponds to variant dbSNP:rs617502551 PublicationEnsembl.1
Natural variantiVAR_018204287A → P. Corresponds to variant dbSNP:rs617502571 PublicationEnsembl.1
Natural variantiVAR_018205291S → A. Corresponds to variant dbSNP:rs617513601 PublicationEnsembl.1
Natural variantiVAR_018206302P → A in RTT. Corresponds to variant dbSNP:rs617513731 PublicationEnsembl.1
Natural variantiVAR_018207302P → H in RTT. Corresponds to variant dbSNP:rs617497231 PublicationEnsembl.1
Natural variantiVAR_018208302P → L in RTT. Corresponds to variant dbSNP:rs617497231 PublicationEnsembl.1
Natural variantiVAR_018209302P → R in RTT. Corresponds to variant dbSNP:rs617497232 PublicationsEnsembl.1
Natural variantiVAR_018210305K → R in RTT. Corresponds to variant dbSNP:rs617514412 PublicationsEnsembl.1
Natural variantiVAR_010282306R → C in RTT. Corresponds to variant dbSNP:rs2893546815 PublicationsEnsembl.1
Natural variantiVAR_018211306R → H in RTT. Corresponds to variant dbSNP:rs617514433 PublicationsEnsembl.1
Natural variantiVAR_018212322P → A in RTT. Corresponds to variant dbSNP:rs617514492 PublicationsEnsembl.1
Natural variantiVAR_018213322P → L in RTT. Corresponds to variant dbSNP:rs617514501 PublicationEnsembl.1
Natural variantiVAR_037665322P → S in MRXS13. Corresponds to variant dbSNP:rs617514491 PublicationEnsembl.1
Natural variantiVAR_018214344R → W in RTT. Corresponds to variant dbSNP:rs617523611 PublicationEnsembl.1
Natural variantiVAR_018215359S → P. Corresponds to variant dbSNP:rs617523711 PublicationEnsembl.1
Natural variantiVAR_018216376P → S in a RTT patient; unknown pathological significance. Corresponds to variant dbSNP:rs617523874 PublicationsEnsembl.1
Natural variantiVAR_023559388P → L. Corresponds to variant dbSNP:rs61753006Ensembl.1
Natural variantiVAR_018218388P → S in a RTT patient. Corresponds to variant dbSNP:rs617530001 PublicationEnsembl.1
Natural variantiVAR_018217388Missing . 1 Publication1
Natural variantiVAR_018219394E → K. Corresponds to variant dbSNP:rs630946621 PublicationEnsembl.1
Natural variantiVAR_010283397E → K. Corresponds to variant dbSNP:rs562684395 PublicationsEnsembl.1
Natural variantiVAR_018220399P → L in MRXS13; unknown pathological significance. Corresponds to variant dbSNP:rs629159622 PublicationsEnsembl.1
Natural variantiVAR_018221402P → L. Corresponds to variant dbSNP:rs617530141 PublicationEnsembl.1
Natural variantiVAR_018222412V → I. Corresponds to variant dbSNP:rs617539661 PublicationEnsembl.1
Natural variantiVAR_017463428G → S in ENS-MECP2; uncertain pathological significance. Corresponds to variant dbSNP:rs617539712 PublicationsEnsembl.1
Natural variantiVAR_018223439A → T. Corresponds to variant dbSNP:rs617539731 PublicationEnsembl.1
Natural variantiVAR_018224444A → T. Corresponds to variant dbSNP:rs617539751 PublicationEnsembl.1
Natural variantiVAR_018225453R → Q in MRXS13. Corresponds to variant dbSNP:rs617539801 PublicationEnsembl.1
Natural variantiVAR_018226480P → S. Corresponds to variant dbSNP:rs2676086361 PublicationEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0229481 – 9MVAGMLGLR → MAAAAAAAPSGGGGGGEEER L in isoform B. 2 Publications9

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L37298 mRNA. Translation: AAC32737.1.
X99686 mRNA. Translation: CAA68001.1.
AJ132917 mRNA. Translation: CAB46446.1.
AF158180 mRNA. Translation: