Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4204
Gene name Gene Name - the full gene name approved by the HGNC.
Methyl-CpG binding protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MECP2
Synonyms (NCBI Gene) Gene synonyms aliases
AUTSX3, MRX16, MRX79, MRXS13, MRXSL, PPMX, RS, RTS, RTT
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq28
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT003089 hsa-miR-122-5p Luciferase reporter assay, qRT-PCR 19296470
MIRT000795 hsa-miR-195-5p Microarray, Northern blot 16331254
MIRT004395 hsa-miR-199a-5p Microarray, Northern blot 16331254
MIRT000779 hsa-miR-199a-3p Microarray, Northern blot 16331254
MIRT000442 hsa-miR-155-5p Review, Luciferase reporter assay, qRT-PCR, Microarray 20388499
Transcription factors
Transcription factor Regulation Reference
MEF2C Unknown 20513142
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300005 6990 ENSG00000169057
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Angelman Syndrome angelman syndrome rs28934904, rs28935468, rs1557135251, rs267608434, rs61748396, rs63749748, rs61754453 N/A
Attention Deficit Hyperactivity Disorder attention deficit hyperactivity disorder rs786205019 N/A
Autism, X-Linked Autism, susceptibility to, X-linked 3 rs28934908, rs61751444, rs267608327, rs61752992, rs61749741, rs61751362, rs28935468, rs28934906, rs61749743 N/A
Encephalopathy With Microcephaly severe neonatal-onset encephalopathy with microcephaly rs63749748, rs61754453, rs179363901, rs267608607, rs61751441, rs267608372, rs1557136332, rs61754436, rs61748390, rs28934908, rs2065947222, rs1557136059, rs61748420, rs61751450, rs1557135295
View all (94 more)
N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Rheumatoid arthritis Rheumatoid arthritis N/A N/A GWAS
Schizophrenia Schizophrenia, schizophrenia N/A N/A GWAS, ClinVar
Systemic lupus erythematosus systemic lupus erythematosus, Systemic lupus erythematosus N/A N/A GenCC, GWAS
Associations from Text Mining Disease 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