MECP2
entrez
4204
canonical
uniprot
P51608
canonical
ensembl
ENSG00000169057
resolver
ensp
ENSP00000301948
resolver
ensp
ENSP00000395535
resolver
ensp
ENSP00000486089
resolver
genesymbol
MECP2
resolver
hgnc
HGNC:6990
resolver
uniprot
A0A140VKC4
resolver
uniprot
D3YJ43
resolver
uniprot
O15233
resolver
uniprot
Q59FJ6
resolver
uniprot
Q6QHH9
resolver
uniprot
Q7Z384
resolver
uniprot_entry
A0A140VKC4_HUMAN
resolver
uniprot_entry
D3YJ43_HUMAN
resolver
uniprot_entry
MECP2_HUMAN
resolver
uniprot_entry
Q59FJ6_HUMAN
resolver
uniprot_sec
O15233
resolver
uniprot_sec
Q6QHH9
resolver
uniprot_sec
Q7Z384
resolver
amino_acid_sequence
MVAGMLGLREEKSEDQDLQGLKDKPLKFKKVKKDKKEEKEGKHEPVQPSAHHSAEPAEAGKAETSEGSGSAPAVPEASASPKQRRSIIRDRGPMYDDPTLPEGWTRKLKQRKSGRSAGKYDVYLINPQGKAFRSKVELIAYFEKVGDTSLDPNDFDFTVTGRGSPSRREQKPPKKPKSPKAPGTGRGRGRPKGSGTTRPKAATSEGVQVKRVLEKSPGKLLVKMPFQTSPGGKAEGGGATTSTQVMVIKRPGRKRKAEADPQAIPKKRGRKPGSVVAAAAAEAKKKAVKESSIRSVQETVLPIKKRKTRETVSIEVKEVVKPLLVSTLGEKSGKGLKTCKSPGRKSKESSPKGRSSSASSPPKKEHHHHHHHSESPKAPVPLLPPLPPPPPEPESSEDPTSPPEPQDLSSSVCKEEKMPRGGSLESDGCPKEPAKTQPAVATAATAAEKYKHRGEGERKDIVSSSMPRPNREEPVDSRTPVTERVS
uniprot
proteins
disease_involvement
DISEASE: Angelman syndrome (AS) [MIM:105830]: A 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. {ECO:0000269|PubMed:11283202}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Intellectual developmental disorder, X-linked, syndromic 13 (MRXS13) [MIM:300055]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXS13 patients manifest intellectual disability associated with other variable features such as spasticity, episodes of manic depressive psychosis, increased tone and macroorchidism. {ECO:0000269|PubMed:10986043, ECO:0000269|PubMed:11007980, ECO:0000269|PubMed:11309367, ECO:0000269|PubMed:11805248, ECO:0000269|PubMed:11885030, ECO:0000269|PubMed:12161600, ECO:0000269|PubMed:12325019, ECO:0000269|PubMed:12615169, ECO:0000269|PubMed:16966553, ECO:0000269|PubMed:17296936}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Rett syndrome (RTT) [MIM:312750]: An X-linked dominant neurodevelopmental disorder, and one of the most common causes of intellectual disability 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, intellectual disability and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood. {ECO:0000269|PubMed:10508514, ECO:0000269|PubMed:10577905, ECO:0000269|PubMed:10745042, ECO:0000269|PubMed:10767337, ECO:0000269|PubMed:10814719, ECO:0000269|PubMed:10944854, ECO:0000269|PubMed:10991688, ECO:0000269|PubMed:10991689, ECO:0000269|PubMed:11055898, ECO:0000269|PubMed:11241840, ECO:0000269|PubMed:11269512, ECO:0000269|PubMed:11283202, ECO:0000269|PubMed:11376998, ECO:0000269|PubMed:11402105, ECO:0000269|PubMed:11706982, ECO:0000269|PubMed:11738883, ECO:0000269|PubMed:12161600, ECO:0000269|PubMed:12567420, ECO:0000269|PubMed:12966522, ECO:0000269|PubMed:12966523, ECO:0000269|PubMed:15034579, ECO:0000269|PubMed:15057977, ECO:0000269|PubMed:17296936, ECO:0000269|PubMed:23662938, ECO:0000269|PubMed:25818041, ECO:0000269|PubMed:26993267, ECO:0000269|PubMed:27864847, ECO:0000269|PubMed:28348241, ECO:0000269|PubMed:28709814}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Autism, X-linked 3 (AUTSX3) [MIM:300496]: A 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 intellectual disability. {ECO:0000269|PubMed:12770674}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Encephalopathy, neonatal severe, due to MECP2 mutations (ENS-MECP2) [MIM:300673]: A neurodevelopmental disorder characterized by severe neonatal encephalopathy, developmental delay, intellectual disability, microcephaly, seizures. Additional features include respiratory insufficiency and central hypoventilation, gastroesophageal reflux, axial hypotonia, hyperreflexia and dyskinetic movements. {ECO:0000269|PubMed:11238684}. Note=The disease is caused by variants 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: Intellectual developmental disorder, X-linked, syndromic, Lubs type (MRXSL) [MIM:300260]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSL patients manifest intellectual disability 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. {ECO:0000269|PubMed:16080119}. Note=The disease is caused by variants affecting the gene represented in this entry. Increased dosage of MECP2 due to gene duplication appears to be responsible for the intellectual disability phenotype.
uniprot
proteins
function
FUNCTION: Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A. Binds both 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC)-containing DNA, with a preference for 5-methylcytosine (5mC). {ECO:0000250|UniProtKB:Q9Z2D6}.
uniprot
proteins
mass_dalton
52441
uniprot
proteins
post_translational_modification
PTM: Phosphorylated on Ser-423 in brain upon synaptic activity, which attenuates its repressor activity and seems to regulate dendritic growth and spine maturation. {ECO:0000250}.
uniprot
proteins
pubmed
10369871
uniprot
proteins
pubmed
10508514
uniprot
proteins
pubmed
10518942
uniprot
proteins
pubmed
10577905
uniprot
proteins
pubmed
10723722
uniprot
proteins
pubmed
10745042
uniprot
proteins
pubmed
10767337
uniprot
proteins
pubmed
10814719
uniprot
proteins
pubmed
10944854
uniprot
proteins
pubmed
10986043
uniprot
proteins
pubmed
10991688
uniprot
proteins
pubmed
10991689
uniprot
proteins
pubmed
11007980
uniprot
proteins
pubmed
11055898
uniprot
proteins
pubmed
11238684
uniprot
proteins
pubmed
11241840
uniprot
proteins
pubmed
11269512
uniprot
proteins
pubmed
11283202
uniprot
proteins
pubmed
11309367
uniprot
proteins
pubmed
11376998
uniprot
proteins
pubmed
11402105
uniprot
proteins
pubmed
11706982
uniprot
proteins
pubmed
11738883
uniprot
proteins
pubmed
11805248
uniprot
proteins
pubmed
11885030
uniprot
proteins
pubmed
11896461
uniprot
proteins
pubmed
12111644
uniprot
proteins
pubmed
12161600
uniprot
proteins
pubmed
12325019
uniprot
proteins
pubmed
12384770
uniprot
proteins
pubmed
12567420
uniprot
proteins
pubmed
12615169
uniprot
proteins
pubmed
12770674
uniprot
proteins
pubmed
12872250
uniprot
proteins
pubmed
12966522
uniprot
proteins
pubmed
12966523
uniprot
proteins
pubmed
15034150
uniprot
proteins
pubmed
15034579
uniprot
proteins
pubmed
15057977
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
15917271
uniprot
proteins
pubmed
16080119
uniprot
proteins
pubmed
16966553
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17296936
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19367720
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23662938
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25818041
uniprot
proteins
pubmed
26993267
uniprot
proteins
pubmed
27864847
uniprot
proteins
pubmed
28348241
uniprot
proteins
pubmed
28709814
uniprot
proteins
pubmed
8672133
uniprot
proteins
pubmed
8976388
uniprot
proteins
pubmed
9710633
uniprot
proteins
sequence_length
486
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q9Z2D6}. Note=Colocalized with methyl-CpG in the genome. Colocalized with TBL1X to the heterochromatin foci. {ECO:0000269|PubMed:28348241}.
uniprot
proteins