Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

P51608

- MECP2_HUMAN

UniProt

P51608 - MECP2_HUMAN

Protein

Methyl-CpG-binding protein 2

Gene

MECP2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 180 (01 Oct 2014)
      Sequence version 1 (01 Oct 1996)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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.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

    1. chromatin binding Source: Ensembl
    2. DNA binding Source: ProtInc
    3. double-stranded methylated DNA binding Source: MGI
    4. methyl-CpG binding Source: Ensembl
    5. mRNA binding Source: Ensembl
    6. poly(A) RNA binding Source: UniProtKB
    7. protein binding Source: IntAct
    8. protein domain specific binding Source: UniProtKB
    9. protein N-terminus binding Source: UniProtKB
    10. sequence-specific DNA binding transcription factor activity Source: Ensembl
    11. siRNA binding Source: Ensembl
    12. transcription corepressor activity Source: ProtInc

    GO - Biological processi

    1. adult locomotory behavior Source: Ensembl
    2. behavioral fear response Source: Ensembl
    3. cardiolipin metabolic process Source: Ensembl
    4. catecholamine secretion Source: Ensembl
    5. cerebellum development Source: Ensembl
    6. chromatin silencing Source: Ensembl
    7. dendrite development Source: Ensembl
    8. embryo development Source: Ensembl
    9. glucocorticoid metabolic process Source: Ensembl
    10. glutamine metabolic process Source: Ensembl
    11. histone acetylation Source: Ensembl
    12. histone methylation Source: Ensembl
    13. inositol metabolic process Source: Ensembl
    14. long-term memory Source: Ensembl
    15. long-term synaptic potentiation Source: Ensembl
    16. mitochondrial electron transport, ubiquinol to cytochrome c Source: Ensembl
    17. negative regulation of histone acetylation Source: Ensembl
    18. negative regulation of histone methylation Source: Ensembl
    19. negative regulation of neuron apoptotic process Source: Ensembl
    20. negative regulation of transcription, DNA-templated Source: UniProtKB
    21. negative regulation of transcription from RNA polymerase II promoter Source: ProtInc
    22. neurological system process involved in regulation of systemic arterial blood pressure Source: Ensembl
    23. neuron maturation Source: Ensembl
    24. pathogenesis Source: Ensembl
    25. phosphatidylcholine metabolic process Source: Ensembl
    26. positive regulation of cell proliferation Source: Ensembl
    27. positive regulation of synapse assembly Source: Ensembl
    28. positive regulation of transcription, DNA-templated Source: Ensembl
    29. post-embryonic development Source: Ensembl
    30. proprioception Source: Ensembl
    31. protein localization Source: Ensembl
    32. regulation of excitatory postsynaptic membrane potential Source: Ensembl
    33. regulation of gene expression by genetic imprinting Source: Ensembl
    34. regulation of respiratory gaseous exchange by neurological system process Source: Ensembl
    35. respiratory gaseous exchange Source: Ensembl
    36. response to hypoxia Source: Ensembl
    37. sensory perception of pain Source: Ensembl
    38. social behavior Source: Ensembl
    39. startle response Source: Ensembl
    40. synapse assembly Source: Ensembl
    41. transcription, DNA-templated Source: UniProtKB-KW
    42. ventricular system development Source: Ensembl
    43. visual learning Source: Ensembl

    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: Chromosome X

    Organism-specific databases

    HGNCiHGNC:6990. MECP2.

    Subcellular locationi

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

    GO - Cellular componenti

    1. cytosol Source: Ensembl
    2. extracellular space Source: UniProt
    3. heterochromatin Source: UniProtKB
    4. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease may be caused by mutations affecting the gene represented in this entry.
    Mental retardation, 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 mental retardation associated with other variable features such as spasticity, episodes of manic depressive psychosis, increased tone and macroorchidism.9 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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. 6 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) [MIM:312750]: An 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.22 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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; dbSBP:rs28935168. 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. 13 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) [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 mental retardation.1 Publication
    Note: The disease may be caused by mutations affecting the gene represented in this entry.
    Encephalopathy, neonatal severe, due to MECP2 mutations (ENS-MECP2) [MIM:300673]: A 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.1 Publication
    Note: 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.
    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) [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 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.1 Publication
    Note: 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.

    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.
    3077. intellectual disability, X-linked - psychosis - macroorchidism.
    778. Rett syndrome.
    209370. Severe neonatal-onset encephalopathy with microcephaly.
    536. Systemic lupus erythematosus.
    1762. Trisomy Xq28.
    777. X-linked non-syndromic intellectual disability.
    PharmGKBiPA30729.

    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 – 4261Phosphoserine1 Publication
    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

    ArrayExpressiP51608.
    BgeeiP51608.
    CleanExiHS_MECP2.
    GenevestigatoriP51608.

    Organism-specific databases

    HPAiHPA000593.
    HPA001341.

    Interactioni

    Subunit structurei

    Interacts with FNBP3, CDKL5 and ATRX.1 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.
    IntActiP51608. 5 interactions.
    MINTiMINT-3019066.
    STRINGi9606.ENSP00000395535.

    Structurei

    Secondary structure

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

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    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

    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.
    HOGENOMiHOG000015809.
    HOVERGENiHBG052445.
    KOiK11588.
    OMAiHETVLPI.
    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. Align

    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

    MVAGMLGLRE EKSEDQDLQG LKDKPLKFKK VKKDKKEEKE GKHEPVQPSA    50
    HHSAEPAEAG KAETSEGSGS APAVPEASAS PKQRRSIIRD RGPMYDDPTL 100
    PEGWTRKLKQ RKSGRSAGKY DVYLINPQGK AFRSKVELIA YFEKVGDTSL 150
    DPNDFDFTVT GRGSPSRREQ KPPKKPKSPK APGTGRGRGR PKGSGTTRPK 200
    AATSEGVQVK RVLEKSPGKL LVKMPFQTSP GGKAEGGGAT TSTQVMVIKR 250
    PGRKRKAEAD PQAIPKKRGR KPGSVVAAAA AEAKKKAVKE SSIRSVQETV 300
    LPIKKRKTRE TVSIEVKEVV KPLLVSTLGE KSGKGLKTCK SPGRKSKESS 350
    PKGRSSSASS PPKKEHHHHH HHSESPKAPV PLLPPLPPPP PEPESSEDPT 400
    SPPEPQDLSS SVCKEEKMPR GGSLESDGCP KEPAKTQPAV ATAATAAEKY 450
    KHRGEGERKD IVSSSMPRPN REEPVDSRTP VTERVS 486
    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti72 – 754PAVP → RLC(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; dbSBP:rs28935168. 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. 13 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. 6 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:
    EMBL
    GenBank
    DDBJ
    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_005274681.2. [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]

    Polymorphism databases

    DMDMi1708973.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement, Polymorphism

    Cross-referencesi

    Web resourcesi

    RettBASE

    IRSA MECP2 variation database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS14741.1. [P51608-1 ]
    CCDS48193.1. [P51608-2 ]
    RefSeqi NP_001104262.1. NM_001110792.1. [P51608-2 ]
    NP_004983.1. NM_004992.3. [P51608-1 ]
    XP_005274738.1. XM_005274681.2. [P51608-1 ]
    UniGenei Hs.200716.
    Hs.702514.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1QK9 NMR - A 77-166 [» ]
    3C2I X-ray 2.50 A 77-167 [» ]
    DisProti DP00539.
    ProteinModelPortali P51608.
    SMRi P51608. Positions 71-195.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110368. 50 interactions.
    IntActi P51608. 5 interactions.
    MINTi MINT-3019066.
    STRINGi 9606.ENSP00000395535.

    PTM databases

    PhosphoSitei P51608.

    Polymorphism databases

    DMDMi 1708973.

    Proteomic databases

    MaxQBi P51608.
    PaxDbi P51608.
    PRIDEi P51608.

    Protocols and materials databases

    DNASUi 4204.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000303391 ; ENSP00000301948 ; ENSG00000169057 . [P51608-1 ]
    ENST00000453960 ; ENSP00000395535 ; ENSG00000169057 . [P51608-2 ]
    GeneIDi 4204.
    KEGGi hsa:4204.
    UCSCi uc004fjv.2. human. [P51608-1 ]
    uc004fjw.2. human. [P51608-2 ]

    Organism-specific databases

    CTDi 4204.
    GeneCardsi GC0XM153287.
    GeneReviewsi MECP2.
    HGNCi HGNC:6990. MECP2.
    HPAi HPA000593.
    HPA001341.
    MIMi 105830. phenotype.
    300005. gene.
    300055. phenotype.
    300260. phenotype.
    300496. phenotype.
    300673. phenotype.
    312750. phenotype.
    neXtProti NX_P51608.
    Orphaneti 3095. Atypical Rett syndrome.
    106. Autism.
    3077. intellectual disability, X-linked - psychosis - macroorchidism.
    778. Rett syndrome.
    209370. Severe neonatal-onset encephalopathy with microcephaly.
    536. Systemic lupus erythematosus.
    1762. Trisomy Xq28.
    777. X-linked non-syndromic intellectual disability.
    PharmGKBi PA30729.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG237320.
    HOGENOMi HOG000015809.
    HOVERGENi HBG052445.
    KOi K11588.
    OMAi HETVLPI.
    PhylomeDBi P51608.
    TreeFami TF332974.

    Enzyme and pathway databases

    SignaLinki P51608.

    Miscellaneous databases

    ChiTaRSi MECP2. human.
    EvolutionaryTracei P51608.
    GeneWikii MECP2.
    GenomeRNAii 4204.
    NextBioi 16564.
    PROi P51608.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P51608.
    Bgeei P51608.
    CleanExi HS_MECP2.
    Genevestigatori P51608.

    Family and domain databases

    Gene3Di 3.30.890.10. 1 hit.
    InterProi IPR017956. AT_hook_DNA-bd_motif.
    IPR016177. DNA-bd_dom.
    IPR017353. Me_CpG-bd_MeCP2.
    IPR001739. Methyl_CpG_DNA-bd.
    [Graphical view ]
    Pfami PF01429. MBD. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF038006. Methyl_CpG_bd_MeCP2. 1 hit.
    SMARTi SM00384. AT_hook. 2 hits.
    SM00391. MBD. 1 hit.
    [Graphical view ]
    SUPFAMi SSF54171. SSF54171. 1 hit.
    PROSITEi PS50982. MBD. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Methyl-CpG-binding protein MeCP2 represses Sp1-activated transcription of the human leukosialin gene when the promoter is methylated."
      Kudo S.
      Mol. Cell. Biol. 18:5492-5499(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
    2. "Assignment of the gene for methyl-CpG-binding protein 2 (MECP2) to human chromosome band Xq28 by in situ hybridization."
      Vilain A., Apiou F., Vogt N., Dutrillaux B., Malfoy B.
      Cytogenet. Cell Genet. 74:293-294(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
    3. "A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3'-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression."
      Coy J.F., Sedlacek Z., Baechner D., Delius H., Poustka A.
      Hum. Mol. Genet. 8:1253-1262(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
    4. "Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions."
      Reichwald K., Thiesen J., Wiehe T., Weitzel J., Poustka W.A., Rosenthal A., Platzer M., Stratling W.H., Kioschis P.
      Mamm. Genome 11:182-190(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
    5. "A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome."
      Mnatzakanian G.N., Lohi H., Munteanu I., Alfred S.E., Yamada T., MacLeod P.J.M., Jones J.R., Scherer S.W., Schanen N.C., Friez M.J., Vincent J.B., Minassian B.A.
      Nat. Genet. 36:339-341(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM B), INVOLVEMENT IN RTT.
    6. Straetling W.H.
      Submitted (APR-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
      Tissue: Placenta.
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM B).
      Tissue: Colon endothelium.
    8. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J.,