Gene Gene information from NCBI Gene database.
Entrez ID 4204
Gene name Methyl-CpG binding protein 2
Gene symbol MECP2
Synonyms (NCBI Gene)
AUTSX3MRX16MRX79MRXS13MRXSLPPMXRSRTSRTT
Chromosome X
Chromosome location Xq28
Summary DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG bi
SNPs SNP information provided by dbSNP.
446
SNP ID Visualize variation Clinical significance Consequence
rs28934904 G>A,C,T Pathogenic, uncertain-significance, likely-pathogenic Coding sequence variant, 5 prime UTR variant, missense variant
rs28934905 A>C,G Not-provided, pathogenic, uncertain-significance Coding sequence variant, intron variant, missense variant
rs28934906 G>A Pathogenic, pathogenic-likely-pathogenic Coding sequence variant, intron variant, missense variant
rs28934907 G>A,C Pathogenic, uncertain-significance, pathogenic-likely-pathogenic Coding sequence variant, 5 prime UTR variant, missense variant
rs28934908 G>A,T Pathogenic, likely-pathogenic Coding sequence variant, 5 prime UTR variant, missense variant
miRNA miRNA information provided by mirtarbase database.
1378
miRTarBase ID miRNA Experiments Reference
MIRT003089 hsa-miR-122-5p Luciferase reporter assayqRT-PCR 19296470
MIRT000795 hsa-miR-195-5p MicroarrayNorthern blot 16331254
MIRT004395 hsa-miR-199a-5p MicroarrayNorthern blot 16331254
MIRT000779 hsa-miR-199a-3p MicroarrayNorthern blot 16331254
MIRT000442 hsa-miR-155-5p ReviewLuciferase reporter assayqRT-PCRMicroarray 20388499
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
MEF2C Unknown 20513142
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
110
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II TAS 9620804
GO:0000785 Component Chromatin IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300005 6990 ENSG00000169057
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P51608
Protein name Methyl-CpG-binding protein 2 (MeCp-2 protein) (MeCp2)
Protein 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
PDB 1QK9 , 3C2I , 5BT2 , 6C1Y , 6OGJ , 6OGK , 6YWW , 8AJR , 8ALQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01429 MBD 91 162 Methyl-CpG binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Present in all adult somatic tissues tested.
Sequence
MVAGMLGLREEKSEDQDLQGLKDKPLKFKKVKKDKKEEKEGKHEPVQPSAHHSAEPAEAG
KAETSEGSGSAPAVPEASASPKQRRSIIRDRGPMYDDPTLPEGWTRKLKQRKSGRSAGKY
DVYLINPQGKAFRSKVELIAYFEKVGDTSLDPNDFDFTVTGR
GSPSRREQKPPKKPKSPK
APGTGRGRGRPKGSGTTRPKAATSEGVQVKRVLEKSPGKLLVKMPFQTSPGGKAEGGGAT
TSTQVMVIKRPGRKRKAEADPQAIPKKRGRKPGSVVAAAAAEAKKKAVKESSIRSVQETV
LPIKKRKTRETVSIEVKEVVKPLLVSTLGEKSGKGLKTCKSPGRKSKESSPKGRSSSASS
PPKKEHHHHHHHSESPKAPVPLLPPLPPPPPEPESSEDPTSPPEPQDLSSSVCKEEKMPR
GGSLESDGCPKEPAKTQPAVATAATAAEKYKHRGEGERKDIVSSSMPRPNREEPVDSRTP
VTERVS
Sequence length 486
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Transcriptional Regulation by MECP2
Loss of MECP2 binding ability to 5hmC-DNA
Loss of MECP2 binding ability to 5mC-DNA
Regulation of MECP2 expression and activity
MECP2 regulates neuronal receptors and channels
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2866
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of the nervous system Likely pathogenic; Pathogenic rs267608438, rs28934906, rs61749721 RCV001814066
RCV001813975
RCV001813976
Absent speech Pathogenic rs61749715 RCV000626873
Angelman syndrome Pathogenic; Likely pathogenic rs267608426, rs63749748, rs61754453, rs1557135251, rs28934904, rs28934906, rs267608434, rs28935468, rs61748396 RCV000473677
RCV000132897
RCV000133058
RCV000170146
RCV000169934
RCV000170109
RCV000133026
RCV000202468
RCV000133106
Attention deficit hyperactivity disorder Pathogenic rs786205019 RCV000170149
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs2148659236, rs2148661485, rs1557136089, rs2065927633, rs2065930340 -
Acute myeloid leukemia Benign rs267608460 RCV005886956
Developmental and epileptic encephalopathy, 2 Uncertain significance rs2065906320 RCV004762025
Familial cancer of breast Benign; Likely benign rs61748413 RCV005886949
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 22357617
Adenocarcinoma Associate 36323715
Adenocarcinoma Mucinous Associate 12824891
Adenocarcinoma of Lung Associate 36323715
Adrenoleukodystrophy Associate 11885030, 26686765
Alcohol Related Disorders Associate 36481643
Alport Syndrome Mental Retardation Midface Hypoplasia and Elliptocytosis Associate 22909152
Alzheimer Disease Associate 37405535
Amyotrophic Lateral Sclerosis Associate 26251528
Angelman Syndrome Associate 11283202