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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)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi185 – 19713A.T hook 1Add
BLAST
DNA bindingi265 – 27713A.T hook 2Add
BLAST

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
  • sequence-specific DNA binding transcription factor activity Source: Ensembl
  • siRNA binding Source: Ensembl
  • transcription corepressor activity Source: ProtInc

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

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
ProteomesiUP000005640 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
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti137 – 1371E → G in MRXS13. 1 Publication
VAR_017581
Natural varianti140 – 1401A → V in MRXS13; impairs interaction with ATRX and abolishes ATRX recruitment to heterochromatin. 7 Publications
Corresponds to variant rs28934908 [ dbSNP | Ensembl ].
VAR_010279
Natural varianti167 – 1671R → W in MRXS13. 1 Publication
VAR_018192
Natural varianti225 – 2251P → L in MRXS13. 1 Publication
VAR_037664
Natural varianti284 – 2841K → E in MRXS13. 1 Publication
VAR_018203
Natural varianti322 – 3221P → S in MRXS13. 1 Publication
VAR_037665
Natural varianti399 – 3991P → L in MRXS13; unknown pathological significance. 2 Publications
VAR_018220
Natural varianti453 – 4531R → Q in MRXS13. 1 Publication
VAR_018225
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti10 – 101E → Q in RTT. 1 Publication
VAR_018180
Natural varianti97 – 971D → E in RTT. 1 Publication
VAR_023552
Natural varianti97 – 971D → Y in RTT. 1 Publication
VAR_018182
Natural varianti100 – 1001L → R in RTT. 1 Publication
VAR_023553
Natural varianti100 – 1001L → V in RTT. 3 Publications
Corresponds to variant rs28935168 [ dbSNP | Ensembl ].
VAR_017462
Natural varianti101 – 1011P → H in RTT. 1 Publication
VAR_018183
Natural varianti101 – 1011P → L in RTT. 1 Publication
VAR_018184
Natural varianti101 – 1011P → R in RTT; also in a patient with Angelman syndrome and some typical RTT features. 2 Publications
VAR_010276
Natural varianti101 – 1011P → S in RTT. 1 Publication
VAR_023554
Natural varianti101 – 1011P → T in RTT. 1 Publication
VAR_018185
Natural varianti106 – 1061R → Q in RTT. 2 Publications
VAR_018186
Natural varianti106 – 1061R → W in RTT. 12 Publications
Corresponds to variant rs28934907 [ dbSNP | Ensembl ].
VAR_010272
Natural varianti111 – 1111R → G in RTT. 1 Publication
VAR_018187
Natural varianti120 – 1201Y → D in RTT. 1 Publication
VAR_023555
Natural varianti124 – 1241L → F in RTT. 1 Publication
VAR_010277
Natural varianti128 – 1281Q → P in RTT. 1 Publication
VAR_018188
Natural varianti133 – 1331R → C in RTT; impairs interaction with ATRX and abolishes ATRX recruitment to heterochromatin. 14 Publications
Corresponds to variant rs28934904 [ dbSNP | Ensembl ].
VAR_010273
Natural varianti133 – 1331R → H in RTT. 2 Publications
VAR_018189
Natural varianti134 – 1341S → C in RTT. 4 Publications
VAR_010278
Natural varianti135 – 1351K → E in RTT. 1 Publication
VAR_018190
Natural varianti152 – 1521P → R in RTT. 9 Publications
VAR_010280
Natural varianti155 – 1551F → I in RTT. 1 Publication
VAR_023556
Natural varianti155 – 1551F → S in RTT. 3 Publications
Corresponds to variant rs28934905 [ dbSNP | Ensembl ].
VAR_010274
Natural varianti156 – 1561D → G in RTT. 1 Publication
VAR_018191
Natural varianti158 – 1581T → A in RTT. 2 Publications
VAR_023557
Natural varianti158 – 1581T → M in RTT. 17 Publications
Corresponds to variant rs28934906 [ dbSNP | Ensembl ].
VAR_010275
Natural varianti161 – 1611G → V in RTT. 1 Publication
VAR_023558
Natural varianti210 – 2101K → I in RTT. 1 Publication
VAR_018197
Natural varianti225 – 2251P → R in RTT. 1 Publication
VAR_018198
Natural varianti302 – 3021P → A in RTT. 1 Publication
VAR_018206
Natural varianti302 – 3021P → H in RTT. 1 Publication
VAR_018207
Natural varianti302 – 3021P → L in RTT. 1 Publication
VAR_018208
Natural varianti302 – 3021P → R in RTT. 2 Publications
VAR_018209
Natural varianti305 – 3051K → R in RTT. 2 Publications
VAR_018210
Natural varianti306 – 3061R → C in RTT. 15 Publications
Corresponds to variant rs28935468 [ dbSNP | Ensembl ].
VAR_010282
Natural varianti306 – 3061R → H in RTT. 3 Publications
VAR_018211
Natural varianti322 – 3221P → A in RTT. 2 Publications
VAR_018212
Natural varianti322 – 3221P → L in RTT. 1 Publication
VAR_018213
Natural varianti344 – 3441R → W in RTT. 1 Publication
VAR_018214
Natural varianti376 – 3761P → S in a RTT patient; unknown pathological significance. 4 Publications
VAR_018216
Natural varianti388 – 3881P → S in a RTT patient. 1 Publication
VAR_018218
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti428 – 4281G → S in ENS-MECP2; uncertain pathological significance. 2 Publications
VAR_017463
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

Disease mutation, Mental retardation

Organism-specific databases

MIMi105830. phenotype.
300055. phenotype.
300260. phenotype.
300496. phenotype.
300673. phenotype.
312750. phenotype.
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.

Polymorphism and mutation databases

BioMutaiMECP2.
DMDMi1708973.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 486486Methyl-CpG-binding protein 2PRO_0000096345Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei80 – 801Phosphoserine4 Publications
Modified residuei116 – 1161Phosphoserine1 Publication
Modified residuei216 – 2161Phosphoserine1 Publication
Modified residuei229 – 2291PhosphoserineBy similarity
Modified residuei321 – 3211N6-acetyllysineBy similarity
Modified residuei423 – 4231PhosphoserineBy similarity
Modified residuei426 – 4261Phosphoserine2 Publications
Modified residuei449 – 4491N6-acetyllysine1 Publication

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, Phosphoprotein

Proteomic databases

MaxQBiP51608.
PaxDbiP51608.
PRIDEiP51608.

PTM databases

PhosphoSiteiP51608.

Expressioni

Tissue specificityi

Present in all adult somatic tissues tested.

Gene expression databases

BgeeiP51608.
CleanExiHS_MECP2.
ExpressionAtlasiP51608. baseline and differential.
GenevestigatoriP51608.

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

WithEntry#Exp.IntActNotes
HIPK2Q9H2X62EBI-1189067,EBI-348345
Hipk2Q9QZR53EBI-1189067,EBI-366905From a different organism.
SMARCA2P515314EBI-1189067,EBI-679562

Protein-protein interaction databases

BioGridi110368. 50 interactions.
DIPiDIP-39983N.
IntActiP51608. 7 interactions.
MINTiMINT-3019066.
STRINGi9606.ENSP00000395535.

Structurei

Secondary structure

1
486
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi95 – 973Combined sources
Beta strandi100 – 1034Combined sources
Beta strandi105 – 1106Combined sources
Turni115 – 1184Combined sources
Beta strandi120 – 1256Combined sources
Turni127 – 1293Combined sources
Beta strandi130 – 1345Combined sources
Helixi135 – 14511Combined sources
Turni152 – 1543Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1QK9NMR-A77-166[»]
3C2IX-ray2.50A77-167[»]
DisProtiDP00539.
ProteinModelPortaliP51608.
SMRiP51608. Positions 71-195.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP51608.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini90 – 16273MBDPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni269 – 30941Interaction with NCOR2By similarityAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi366 – 3727His-rich
Compositional biasi376 – 40530Pro-richAdd
BLAST

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

eggNOGiNOG237320.
GeneTreeiENSGT00530000063687.
HOGENOMiHOG000015809.
HOVERGENiHBG052445.
InParanoidiP51608.
KOiK11588.
OMAiKMPRAGS.
PhylomeDBiP51608.
TreeFamiTF332974.

Family and domain databases

Gene3Di3.30.890.10. 1 hit.
InterProiIPR017956. AT_hook_DNA-bd_motif.
IPR016177. 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.
SMARTiSM00384. AT_hook. 2 hits.
SM00391. 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 CAD97991.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti72 – 754PAVP → RLC in CAA61599 (PubMed:8672133).Curated
Sequence conflicti290 – 2901E → G in CAA68001 (PubMed:8976388).Curated
Sequence conflicti466 – 4661M → V in CAD97991 (PubMed:17974005).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti10 – 101E → Q in RTT. 1 Publication
VAR_018180
Natural varianti86 – 861S → C.1 Publication
VAR_018181
Natural varianti97 – 971D → E in RTT. 1 Publication
VAR_023552
Natural varianti97 – 971D → Y in RTT. 1 Publication
VAR_018182
Natural varianti100 – 1001L → R in RTT. 1 Publication
VAR_023553
Natural varianti100 – 1001L → V in RTT. 3 Publications
Corresponds to variant rs28935168 [ dbSNP | Ensembl ].
VAR_017462
Natural varianti101 – 1011P → H in RTT. 1 Publication
VAR_018183
Natural varianti101 – 1011P → L in RTT. 1 Publication
VAR_018184
Natural varianti101 – 1011P → R in RTT; also in a patient with Angelman syndrome and some typical RTT features. 2 Publications
VAR_010276
Natural varianti101 – 1011P → S in RTT. 1 Publication
VAR_023554
Natural varianti101 – 1011P → T in RTT. 1 Publication
VAR_018185
Natural varianti106 – 1061R → Q in RTT. 2 Publications
VAR_018186
Natural varianti106 – 1061R → W in RTT. 12 Publications
Corresponds to variant rs28934907 [ dbSNP | Ensembl ].
VAR_010272
Natural varianti111 – 1111R → G in RTT. 1 Publication
VAR_018187
Natural varianti120 – 1201Y → D in RTT. 1 Publication
VAR_023555
Natural varianti124 – 1241L → F in RTT. 1 Publication
VAR_010277
Natural varianti128 – 1281Q → P in RTT. 1 Publication
VAR_018188
Natural varianti133 – 1331R → C in RTT; impairs interaction with ATRX and abolishes ATRX recruitment to heterochromatin. 14 Publications
Corresponds to variant rs28934904 [ dbSNP | Ensembl ].
VAR_010273
Natural varianti133 – 1331R → H in RTT. 2 Publications
VAR_018189
Natural varianti134 – 1341S → C in RTT. 4 Publications
VAR_010278
Natural varianti135 – 1351K → E in RTT. 1 Publication
VAR_018190
Natural varianti137 – 1371E → G in MRXS13. 1 Publication
VAR_017581
Natural varianti140 – 1401A → V in MRXS13; impairs interaction with ATRX and abolishes ATRX recruitment to heterochromatin. 7 Publications
Corresponds to variant rs28934908 [ dbSNP | Ensembl ].
VAR_010279
Natural varianti152 – 1521P → R in RTT. 9 Publications
VAR_010280
Natural varianti155 – 1551F → I in RTT. 1 Publication
VAR_023556
Natural varianti155 – 1551F → S in RTT. 3 Publications
Corresponds to variant rs28934905 [ dbSNP | Ensembl ].
VAR_010274
Natural varianti156 – 1561D → G in RTT. 1 Publication
VAR_018191
Natural varianti158 – 1581T → A in RTT. 2 Publications
VAR_023557
Natural varianti158 – 1581T → M in RTT. 17 Publications
Corresponds to variant rs28934906 [ dbSNP | Ensembl ].
VAR_010275
Natural varianti161 – 1611G → V in RTT. 1 Publication
VAR_023558
Natural varianti167 – 1671R → W in MRXS13. 1 Publication
VAR_018192
Natural varianti181 – 1811A → V.1 Publication
VAR_018193
Natural varianti196 – 1961T → S.1 Publication
VAR_018194
Natural varianti197 – 1971T → M.2 Publications
VAR_018195
Natural varianti201 – 2011A → V.2 Publications
Corresponds to variant rs61748381 [ dbSNP | Ensembl ].
VAR_010281
Natural varianti203 – 2031T → M.2 Publications
VAR_018196
Natural varianti210 – 2101K → I in RTT. 1 Publication
VAR_018197
Natural varianti225 – 2251P → L in MRXS13. 1 Publication
VAR_037664
Natural varianti225 – 2251P → R in RTT. 1 Publication
VAR_018198
Natural varianti228 – 2281T → S.1 Publication
Corresponds to variant rs61749738 [ dbSNP | Ensembl ].
VAR_018199
Natural varianti229 – 2291S → L.1 Publication
VAR_018200
Natural varianti232 – 2321G → A.1 Publication
Corresponds to variant rs61748422 [ dbSNP | Ensembl ].
VAR_018201
Natural varianti251 – 2511P → L.1 Publication
VAR_018202
Natural varianti284 – 2841K → E in MRXS13. 1 Publication
VAR_018203
Natural varianti287 – 2871A → P.1 Publication
VAR_018204
Natural varianti291 – 2911S → A.1 Publication
VAR_018205
Natural varianti302 – 3021P → A in RTT. 1 Publication
VAR_018206
Natural varianti302 – 3021P → H in RTT. 1 Publication
VAR_018207
Natural varianti302 – 3021P → L in RTT. 1 Publication
VAR_018208
Natural varianti302 – 3021P → R in RTT. 2 Publications
VAR_018209
Natural varianti305 – 3051K → R in RTT. 2 Publications
VAR_018210
Natural varianti306 – 3061R → C in RTT. 15 Publications
Corresponds to variant rs28935468 [ dbSNP | Ensembl ].
VAR_010282
Natural varianti306 – 3061R → H in RTT. 3 Publications
VAR_018211
Natural varianti322 – 3221P → A in RTT. 2 Publications
VAR_018212
Natural varianti322 – 3221P → L in RTT. 1 Publication
VAR_018213
Natural varianti322 – 3221P → S in MRXS13. 1 Publication
VAR_037665
Natural varianti344 – 3441R → W in RTT. 1 Publication
VAR_018214
Natural varianti359 – 3591S → P.1 Publication
VAR_018215
Natural varianti376 – 3761P → S in a RTT patient; unknown pathological significance. 4 Publications
VAR_018216
Natural varianti388 – 3881P → L.
VAR_023559
Natural varianti388 – 3881P → S in a RTT patient. 1 Publication
VAR_018218
Natural varianti388 – 3881Missing .1 Publication
VAR_018217
Natural varianti394 – 3941E → K.1 Publication
VAR_018219
Natural varianti397 – 3971E → K.5 Publications
Corresponds to variant rs56268439 [ dbSNP | Ensembl ].
VAR_010283
Natural varianti399 – 3991P → L in MRXS13; unknown pathological significance. 2 Publications
VAR_018220
Natural varianti402 – 4021P → L.1 Publication
VAR_018221
Natural varianti412 – 4121V → I.1 Publication
Corresponds to variant rs61753966 [ dbSNP | Ensembl ].
VAR_018222
Natural varianti428 – 4281G → S in ENS-MECP2; uncertain pathological significance. 2 Publications
VAR_017463
Natural varianti439 – 4391A → T.1 Publication
VAR_018223
Natural varianti444 – 4441A → T.1 Publication
Corresponds to variant rs61753975 [ dbSNP | Ensembl ].
VAR_018224
Natural varianti453 – 4531R → Q in MRXS13. 1 Publication
VAR_018225
Natural varianti480 – 4801P → S.1 Publication
VAR_018226

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 99MVAGMLGLR → MAAAAAAAPSGGGGGGEEER L in isoform B. 2 PublicationsVSP_022948

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: AAF33023.1.
Y12643 mRNA. Translation: CAA73190.1.
AY541280 mRNA. Translation: AAS55455.1.
BX538060 mRNA. Translation: CAD97991.1. Different initiation.
AF030876 Genomic DNA. Translation: AAC08757.1.
BC011612 mRNA. Translation: AAH11612.1.
X89430 mRNA. Translation: CAA61599.1.
X94628 Genomic DNA. Translation: CAA64331.1.
CCDSiCCDS14741.1. [P51608-1]
CCDS48193.1. [P51608-2]
RefSeqiNP_001104262.1. NM_001110792.1. [P51608-2]
NP_004983.1. NM_004992.3. [P51608-1]
XP_005274738.1. XM_005274681.3. [P51608-1]
UniGeneiHs.200716.
Hs.702514.

Genome annotation databases

EnsembliENST00000303391; ENSP00000301948; ENSG00000169057. [P51608-1]
ENST00000453960; ENSP00000395535; ENSG00000169057. [P51608-2]
GeneIDi4204.
KEGGihsa:4204.
UCSCiuc004fjv.2. human. [P51608-1]
uc004fjw.2. human. [P51608-2]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Web resourcesi

RettBASE

IRSA MECP2 variation database

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: AAF33023.1.
Y12643 mRNA. Translation: CAA73190.1.
AY541280 mRNA. Translation: AAS55455.1.
BX538060 mRNA. Translation: CAD97991.1. Different initiation.
AF030876 Genomic DNA. Translation: AAC08757.1.
BC011612 mRNA. Translation: AAH11612.1.
X89430 mRNA. Translation: CAA61599.1.
X94628 Genomic DNA. Translation: CAA64331.1.
CCDSiCCDS14741.1. [P51608-1]
CCDS48193.1. [P51608-2]
RefSeqiNP_001104262.1. NM_001110792.1. [P51608-2]
NP_004983.1. NM_004992.3. [P51608-1]
XP_005274738.1. XM_005274681.3. [P51608-1]
UniGeneiHs.200716.
Hs.702514.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1QK9NMR-A77-166[»]
3C2IX-ray2.50A77-167[»]
DisProtiDP00539.
ProteinModelPortaliP51608.
SMRiP51608. Positions 71-195.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110368. 50 interactions.
DIPiDIP-39983N.
IntActiP51608. 7 interactions.
MINTiMINT-3019066.
STRINGi9606.ENSP00000395535.

PTM databases

PhosphoSiteiP51608.

Polymorphism and mutation databases

BioMutaiMECP2.
DMDMi1708973.

Proteomic databases

MaxQBiP51608.
PaxDbiP51608.
PRIDEiP51608.

Protocols and materials databases

DNASUi4204.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000303391; ENSP00000301948; ENSG00000169057. [P51608-1]
ENST00000453960; ENSP00000395535; ENSG00000169057. [P51608-2]
GeneIDi4204.
KEGGihsa:4204.
UCSCiuc004fjv.2. human. [P51608-1]
uc004fjw.2. human. [P51608-2]

Organism-specific databases

CTDi4204.
GeneCardsiGC0XM153287.
GeneReviewsiMECP2.
HGNCiHGNC:6990. MECP2.
HPAiCAB037264.
HPA000593.
HPA001341.
MIMi105830. phenotype.
300005. gene.
300055. phenotype.
300260. phenotype.
300496. phenotype.
300673. phenotype.
312750. phenotype.
neXtProtiNX_P51608.
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.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG237320.
GeneTreeiENSGT00530000063687.
HOGENOMiHOG000015809.
HOVERGENiHBG052445.
InParanoidiP51608.
KOiK11588.
OMAiKMPRAGS.
PhylomeDBiP51608.
TreeFamiTF332974.

Enzyme and pathway databases

SignaLinkiP51608.

Miscellaneous databases

ChiTaRSi