MECP2 (methyl-CpG binding protein 2) - Rat Genome Database

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Gene: MECP2 (methyl-CpG binding protein 2) Homo sapiens
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Symbol: MECP2
Name: methyl-CpG binding protein 2
RGD ID: 1349232
HGNC Page HGNC
Description: Exhibits several functions, including double-stranded methylated DNA binding activity; protein N-terminus binding activity; and transcription corepressor activity. Involved in several processes, including positive regulation of DNA methylation; positive regulation of microtubule nucleation; and regulation of gene expression. Localizes to centrosome; heterochromatin; and nucleoplasm. Implicated in Rett syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome; autistic disorder; severe congenital encephalopathy due to MECP2 mutation; and syndromic X-linked intellectual disability Lubs type.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AUTSX3; DKFZp686A24160; meCp-2 protein; mental retardation, X-linked 16; mental retardation, X-linked 79; methyl CpG binding protein 2; methyl-CpG-binding protein 2; MRX16; MRX79; MRXS13; MRXSL; mutant methyl CpG binding protein 2; mutant methyl CpG binding protein 2 transcript 1; mutant methyl CpG binding protein 2 variant 1; PPMX; RS; RTS; RTT; testis tissue sperm-binding protein Li 41a
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX154,021,573 - 154,137,103 (-)EnsemblGRCh38hg38GRCh38
GRCh38X154,021,573 - 154,097,717 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,287,024 - 153,363,174 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,940,458 - 153,016,323 (-)NCBINCBI36hg18NCBI36
Build 34X152,808,110 - 152,883,976NCBI
CeleraX153,520,969 - 153,596,868 (-)NCBI
Cytogenetic MapXq28NCBI
HuRefX141,928,231 - 142,007,659 (-)NCBIHuRef
CHM1_1X153,161,670 - 153,237,718 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
adrenoleukodystrophy  (IAGP)
Angelman syndrome  (IAGP)
Animal Disease Models  (EXP)
anxiety disorder  (EXP)
attention deficit hyperactivity disorder  (IAGP)
autistic disorder  (EXP,IAGP)
bruxism  (IAGP)
Cocaine-Related Disorders  (EXP,ISO)
Craniofacial Abnormalities  (EXP)
Developmental Disabilities  (EXP,IAGP)
epilepsy  (EXP,IAGP)
Facial Hypertrichosis  (IAGP)
Fetal Growth Retardation  (ISO)
focal epilepsy  (IAGP)
Gastrointestinal Diseases  (IAGP)
Generalized Epilepsy  (IAGP)
genetic disease  (IAGP)
Hearing Loss  (IAGP)
hepatocellular carcinoma  (EXP,ISO)
intellectual disability  (EXP,IAGP)
Language Development Disorders  (IAGP)
learning disability  (EXP)
MECP2 duplication syndrome  (IAGP)
Mental Retardation, X-Linked  (IAGP)
microcephaly  (IAGP)
Micrognathism  (IAGP)
Muscle Hypotonia  (EXP)
Myoclonus  (EXP)
Neurodevelopmental Disorders  (EXP)
non-syndromic X-linked intellectual disability  (IAGP)
Pervasive Child Development Disorders  (EXP)
Psychomotor Disorders  (EXP)
pulmonary fibrosis  (EXP)
respiratory failure  (EXP)
Retrognathia  (IAGP)
Rett syndrome  (EXP,IAGP,ISO)
Rett Syndrome, Atypical  (IAGP)
Rett Syndrome, Zappella Variant  (IAGP)
schizophrenia  (IAGP)
severe congenital encephalopathy due to MECP2 mutation  (EXP,IAGP)
Smith-Magenis syndrome  (IAGP)
syndromic X-linked intellectual disability Lubs type  (IAGP)
transient cerebral ischemia  (ISO)
visual epilepsy  (EXP,IAGP,ISO)
X-linked Emery-Dreifuss muscular dystrophy 1  (IAGP)
X-linked intellectual disability-psychosis-macroorchidism syndrome  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-phenylbutyric acid  (EXP)
5-aza-2'-deoxycytidine  (EXP,ISO)
5-azacytidine  (EXP)
acrolein  (EXP)
aflatoxin B1  (EXP,ISO)
aflatoxin B2  (EXP)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
arsenous acid  (ISO)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
beta-naphthoflavone  (ISO)
bicuculline  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bleomycin A2  (ISO)
butanal  (EXP)
C60 fullerene  (ISO)
carbon nanotube  (ISO)
cocaine  (EXP,ISO)
copper(II) sulfate  (EXP)
curcumin  (EXP)
diarsenic trioxide  (ISO)
dichlorine  (ISO)
dicrotophos  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
flavonoids  (ISO)
fluoxetine  (ISO)
formaldehyde  (ISO)
genistein  (EXP)
gentamycin  (ISO)
guggulsterone  (EXP)
homocysteine  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
lead(0)  (EXP,ISO)
lead(2+)  (EXP,ISO)
melittin  (EXP)
methapyrilene  (EXP)
methylmercury chloride  (ISO)
mitomycin C  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
ozone  (EXP,ISO)
paracetamol  (ISO)
paraquat  (ISO)
permethrin  (ISO)
phenobarbital  (ISO)
potassium chloride  (ISO)
resveratrol  (EXP)
SB 431542  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
succimer  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
tungsten  (ISO)
valproic acid  (EXP,ISO)
withaferin A  (EXP)
zebularine  (EXP)
zolpidem  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adult locomotory behavior  (IEA,ISO)
behavioral fear response  (IEA,ISO)
brain development  (ISO)
cardiolipin metabolic process  (IEA,ISO)
cellular biogenic amine metabolic process  (IEA,ISO)
cellular response to isoquinoline alkaloid  (ISO)
cellular response to potassium ion  (ISO)
cerebellum development  (IEA,ISO)
cerebral cortex development  (ISO)
chemical synaptic transmission  (ISO)
chromatin silencing  (IEA,ISO)
dendrite development  (IEA,ISO)
excitatory postsynaptic potential  (IEA,ISO)
glucocorticoid metabolic process  (IEA,ISO)
glutamine metabolic process  (IEA,ISO)
heart development  (ISO)
hippocampus development  (ISO)
histone acetylation  (IEA,ISO)
histone methylation  (IEA,ISO)
inositol metabolic process  (IEA,ISO)
learning  (ISO)
long-term memory  (IEA,ISO)
long-term synaptic potentiation  (IEA,ISO)
lung alveolus development  (ISO)
memory  (ISO)
mitotic spindle organization  (IMP)
multicellular organismal response to stress  (ISO)
negative regulation of angiogenesis  (IMP)
negative regulation of astrocyte differentiation  (ISO)
negative regulation of blood vessel endothelial cell migration  (IDA)
negative regulation of dendrite extension  (ISO)
negative regulation of dendritic spine development  (ISO)
negative regulation of gene expression  (IDA,ISO)
negative regulation of neuron apoptotic process  (IEA,ISO)
negative regulation of primary miRNA processing  (ISO)
negative regulation of protein binding  (ISO)
negative regulation of smooth muscle cell differentiation  (IEA)
negative regulation of transcription by RNA polymerase II  (IBA,ISO)
negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation  (IEA)
negative regulation of transcription, DNA-templated  (IDA,ISO)
nervous system process involved in regulation of systemic arterial blood pressure  (IEA,ISO)
neuromuscular process  (ISO)
neuromuscular process controlling posture  (ISO)
neuron differentiation  (ISO)
neuron maturation  (IEA,ISO)
neuron projection development  (ISO)
olfactory bulb development  (ISO)
oligodendrocyte development  (ISO)
oligodendrocyte differentiation  (ISO)
phosphatidylcholine metabolic process  (IEA,ISO)
positive regulation of anterograde dense core granule transport  (ISO)
positive regulation of branching morphogenesis of a nerve  (ISO)
positive regulation of cell population proliferation  (IMP,ISO)
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