MECP2 Chromosome X
Methyl-CpG binding protein 2
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What This Gene Does
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 binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of cognitive disability in females. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
Gene Info
Gene Group
Methyl-CpG binding domain containing
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000169057
Associated Conditions (48)
Severe neonatal-onset encephalopathy with microcephaly
MECP2-related disorder
Inborn genetic diseases
Rett syndrome
Syndromic X-linked intellectual disability Lubs type
Autism
susceptibility to
X-linked 3
X-linked intellectual disability-psychosis-macroorchidism syndrome
See cases
X-linked MECP2-related disorders
Focal epilepsy
12 conditions
zappella variant
Neurodevelopmental delay
Autism spectrum disorder
Thyroid cancer
nonmedullary
1
Angelman syndrome
+28 more conditions
Key Variants
RS1064795312
Conflicting classifications of pathogenicity
Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
Health Risk
RS1158736298
Conflicting classifications of pathogenicity
Severe neonatal-onset encephalopathy with microcephaly, MECP2-related disorder, Inborn genetic diseases
Health Risk
RS1171658384
Conflicting classifications of pathogenicity
Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
Health Risk
RS1182354883
Conflicting classifications of pathogenicity
Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
Health Risk
RS1333935838
Conflicting classifications of pathogenicity
Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
Health Risk
RS1437033667
Conflicting classifications of pathogenicity
Inborn genetic diseases, Severe neonatal-onset encephalopathy with microcephaly, Inborn genetic diseases
Health Risk
RS1557136001
Conflicting classifications of pathogenicity
Severe neonatal-onset encephalopathy with microcephaly, Inborn genetic diseases, Severe neonatal-onset encephalopathy with microcephaly
Health Risk
RS1557136171
Conflicting classifications of pathogenicity
Rett syndrome, Rett syndrome
Health Risk
RS1557136290
Conflicting classifications of pathogenicity
Severe neonatal-onset encephalopathy with microcephaly, MECP2-related disorder, Inborn genetic diseases
Health Risk
RS1557136591
Conflicting classifications of pathogenicity
Rett syndrome, Rett syndrome
Health Risk
RS1557137191
Conflicting classifications of pathogenicity
Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
Health Risk
RS1557137196
Conflicting classifications of pathogenicity
Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
Health Risk
All Variants (659)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1557135091 | Health Risk | Pathogenic | Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS1557135110 | Health Risk | Pathogenic | Rett syndrome, Rett syndrome |
| RS1557135128 | Health Risk | Pathogenic | Rett syndrome, Rett syndrome |
| RS1557135140 | Health Risk | Pathogenic | — |
| RS1557135212 | Health Risk | Pathogenic | Rett syndrome, Rett syndrome |
| RS1557135218 | Health Risk | Pathogenic | Rett syndrome, Rett syndrome |
| RS1557135225 | Health Risk | Pathogenic | Rett syndrome, Rett syndrome |
| RS1557135295 | Health Risk | Pathogenic | Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly, Rett syndrome |
| RS1557135300 | Health Risk | Pathogenic | Rett syndrome, Rett syndrome |
| RS1557135314 | Health Risk | Pathogenic | Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly, Inborn genetic diseases |
| RS1557135315 | Health Risk | Pathogenic | Rett syndrome, Syndromic X-linked intellectual disability Lubs type, Severe neonatal-onset encephalopathy with microcephaly |
| RS1557135350 | Health Risk | Pathogenic | Rett syndrome, Rett syndrome |
| RS1557135400 | Health Risk | Pathogenic | Rett syndrome, Rett syndrome |
| RS1557135418 | Health Risk | Pathogenic | Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly, Rett syndrome |
| RS1557135461 | Health Risk | Pathogenic | Rett syndrome, Rett syndrome |
| RS1557135516 | Health Risk | Pathogenic | — |
| RS1557135575 | Health Risk | Pathogenic | Rett syndrome, Rett syndrome |
| RS1557135596 | Health Risk | Pathogenic | Rett syndrome, Rett syndrome |
| RS1557135664 | Health Risk | Pathogenic | Rett syndrome, Rett syndrome |
| RS1557135666 | Health Risk | Pathogenic | Rett syndrome, Rett syndrome |
| RS1557135728 | Health Risk | Pathogenic | Rett syndrome, Rett syndrome |
| RS1557135734 | Health Risk | Pathogenic | — |
| RS1557135793 | Health Risk | Pathogenic | Severe neonatal-onset encephalopathy with microcephaly, X-linked intellectual disability-psychosis-macroorchidism syndrome, Rett syndrome |
| RS1557135851 | Health Risk | Pathogenic | — |
| RS1557135893 | Health Risk | Pathogenic | Rett syndrome, Rett syndrome |
| RS1557135901 | Health Risk | Pathogenic | — |
| RS1557136059 | Health Risk | Pathogenic | Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS1557136251 | Health Risk | Pathogenic | — |
| RS1557136374 | Health Risk | Pathogenic | Rett syndrome, Rett syndrome |
| RS1557136523 | Health Risk | Pathogenic | Rett syndrome, Rett syndrome |
| RS1557136758 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1557137672 | Health Risk | Pathogenic | Global developmental delay, Metatarsus adductus, Generalized hypotonia |
| RS1557137675 | Health Risk | Pathogenic | Rett syndrome, Rett syndrome |
| RS1557137776 | Health Risk | Pathogenic | — |
| RS1557137871 | Health Risk | Pathogenic | Rett syndrome, Rett syndrome |
| RS1557137983 | Health Risk | Pathogenic | — |
| RS1557150841 | Health Risk | Pathogenic | Rett syndrome, Rett syndrome |
| RS1557150846 | Health Risk | Pathogenic | Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS1569548274 | Health Risk | Pathogenic | Rett syndrome, Rett syndrome |
| RS1569548307 | Health Risk | Pathogenic | Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS1569548314 | Health Risk | Pathogenic | Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS1569548376 | Health Risk | Pathogenic | Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS1603307453 | Health Risk | Pathogenic | — |
| RS1603307604 | Health Risk | Pathogenic | Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS1603307859 | Health Risk | Pathogenic | Rett syndrome, Rett syndrome |
| RS1603307865 | Health Risk | Pathogenic | Rett syndrome, Rett syndrome |
| RS1603307876 | Health Risk | Pathogenic | — |
| RS1603308287 | Health Risk | Pathogenic | Rett syndrome, Rett syndrome |
| RS1603308358 | Health Risk | Pathogenic | Severe neonatal-onset encephalopathy with microcephaly, Inborn genetic diseases, Rett syndrome |
| RS1603308957 | Health Risk | Pathogenic | Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |