Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

MECP2

contributors: mct/pgu/shn - updated : 01-02-2017

HGNC name	methyl CpG binding protein 2 (Rett syndrome)
HGNC id	6990

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

RTT , RTTM , MRX28 , PPMX , MRXS31 , ESMR , DUPXQ28

related resource

RettBASE

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in sporadic RTT, mutation exclusively of paternal origin constitutional somatic mutation       somatic mosaicism in male (with classic RTT syndrome) constitutional   amplification     duplication in mental retardation in males constitutional germinal mutation       in autism sporadic, rare cases tumoral     --over   in cancer prostate cells constitutional     --other loss of function a 50p100 decrease in MECP2 levels might indeed cause disease, and misregulation may be a common feature of many neurodevelopmental disorders constitutional       loss of function neural cell fate and neuronal maintenance may be perturbed by senescence triggered by impaired MECP2 activity either before or after neural differentiation (

Susceptibility

to sporadic autism to reduced cortical surface area

Variant & Polymorphism other	common MECP2 haplotype associates with reduced cortical surface area

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed mental retardation other   a lower dosage of gentamicin was enough to increase full-length MECP2 levels in RTT neurons, rescuing glutamatergic synapses mental retardation other   various steps in the cholesterol pathway may be valid targets for treatment of Rett sdr

ANIMAL & CELL MODELS

	overexpression of MeCP2 in the mouse heart causes embryonic lethality with cardiac septum hypertrophy and dysregulated expression of MeCP2 in skeletal tissue produces severe malformations
	mice bearing a hypomorphic mutation in Mecp2 display altered behavioral responses to acute and repeated AMPH treatment and changes in both the development and plasticity of striatal synapses
	in globally MeCP2-deficient mice, re-expression of Mecp2 preferentially in astrocytes significantly improved locomotion and anxiety levels, restored respiratory abnormalities to a normal pattern, and greatly prolonged lifespan compared to globally null mice
	neuron-specific deletion of MeCP2 recapitulates the RTT symptoms of the whole-body KO mouse, implicating an essential role for MeCP2 in neurons
	decreased dopamine transmission due to heterogeneous Mecp2 expression contributes to the parkinsonian features of RTT in Mecp2(+/-) mice
	mutations occurring in Rett patients are defective in the chromatin architecture function of MeCP2
	cholesterol homeostasis is disrupted in Mecp2 mutant mice
	loss of MECP2 causes mislocalization of the ATRX in the hippocampus and cortex of symptomatic KO mice