Tchem | Methyl-CpG-binding protein 2 |
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).
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]
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]
Comments
Property Summary
Ligand Count | 1 |
NCBI Gene PubMed Count | 497 |
PubMed Score | 1878.16 |
PubTator Score | 1277.20 |
Disease | Target Count | P-value |
---|---|---|
malignant mesothelioma | 3232 | 6.4e-06 |
adult high grade glioma | 3801 | 3.6e-05 |
medulloblastoma, large-cell | 6241 | 1.5e-03 |
subependymal giant cell astrocytoma | 2287 | 4.7e-03 |
astrocytoma | 1146 | 1.4e-02 |
osteosarcoma | 7950 | 2.1e-02 |
non primary Sjogren syndrome sicca | 891 | 2.3e-02 |
Disease | Target Count | Z-score | Confidence |
---|---|---|---|
Autism spectrum disorder | 101 | 0.0 | 5.0 |
Syndromic X-linked intellectual disability Lubs type | 3 | 0.0 | 5.0 |
X-linked intellectual disability-psychosis-macroorchidism syndrome | 3 | 0.0 | 5.0 |
Disease | log2 FC | p |
---|---|---|
adult high grade glioma | -1.100 | 3.6e-05 |
astrocytoma | 1.100 | 1.4e-02 |
malignant mesothelioma | 1.100 | 6.4e-06 |
medulloblastoma, large-cell | -1.100 | 1.5e-03 |
non primary Sjogren syndrome sicca | 1.100 | 2.3e-02 |
osteosarcoma | 1.136 | 2.1e-02 |
subependymal giant cell astrocytoma | -2.026 | 4.7e-03 |
Accession | P51608 O15233 Q6QHH9 Q7Z384 MeCp-2 protein |
Symbols |
RS RTS RTT PPMX MRX16 MRX79 MRXSL AUTSX3 MRXS13 |
Species | Source | Disease |
---|---|---|
Inparanoid OMA EggNOG | ||
Inparanoid OMA EggNOG | ||
Inparanoid OMA EggNOG | ||
Inparanoid OMA EggNOG | ||
Inparanoid OMA | ||
Inparanoid OMA EggNOG | ||
Inparanoid OMA EggNOG | ||
Inparanoid OMA EggNOG | ||
Inparanoid OMA EggNOG | ||
Inparanoid OMA EggNOG |
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RPL26L1
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DDX21
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PDCD11
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TOP3A
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HIST1H1T
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DDX24
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GNL2
KPNA4
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RIOX2
EIF2AK2
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RPS8
RRP1B
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WDR36
NOL6
RPL15
RPL32
NSD1
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BBX
SRBD1
FCF1
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MVAGMLGLREEKSEDQDLQGLKDKPLKFKKVKKDKKEEKEGKHEPVQPSAHHSAEPAEAGKAETSEGSGS 1 - 70 APAVPEASASPKQRRSIIRDRGPMYDDPTLPEGWTRKLKQRKSGRSAGKYDVYLINPQGKAFRSKVELIA 71 - 140 YFEKVGDTSLDPNDFDFTVTGRGSPSRREQKPPKKPKSPKAPGTGRGRGRPKGSGTTRPKAATSEGVQVK 141 - 210 RVLEKSPGKLLVKMPFQTSPGGKAEGGGATTSTQVMVIKRPGRKRKAEADPQAIPKKRGRKPGSVVAAAA 211 - 280 AEAKKKAVKESSIRSVQETVLPIKKRKTRETVSIEVKEVVKPLLVSTLGEKSGKGLKTCKSPGRKSKESS 281 - 350 PKGRSSSASSPPKKEHHHHHHHSESPKAPVPLLPPLPPPPPEPESSEDPTSPPEPQDLSSSVCKEEKMPR 351 - 420 GGSLESDGCPKEPAKTQPAVATAATAAEKYKHRGEGERKDIVSSSMPRPNREEPVDSRTPVTERVS 421 - 486 //