MECP2 (methyl-CpG binding protein 2)

2003-02-01  

Identity

HGNC
MECP2
LOCATION
Xq28
LOCUSID
4204
ALIAS
AUTSX3,MRX16,MRX79,MRXS13,MRXSL,PPMX,RS,RTS,RTT
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4204
MIM: 300005
HGNC: 6990
Ensembl: ENSG00000169057

Variants:

dbSNP: 4204
ClinVar: 4204
TCGA: ENSG00000169057
COSMIC: MECP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169057ENST00000303391P51608
ENSG00000169057ENST00000303391D3YJ43
ENSG00000169057ENST00000369957H7BY72
ENSG00000169057ENST00000407218B5MCB4
ENSG00000169057ENST00000415944C9JH89
ENSG00000169057ENST00000453960P51608
ENSG00000169057ENST00000453960A0A140VKC4
ENSG00000169057ENST00000611468A0A087WVW7
ENSG00000169057ENST00000622433A0A087X1U4
ENSG00000169057ENST00000628176A0A0D9SFX7
ENSG00000169057ENST00000630151A0A0D9SEX1
ENSG00000169057ENST00000637917A0A1B0GTV0
ENSG00000169057ENST00000640414I6LM39

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
232601352012MeCP2 binds to 5hmC enriched within active genes and accessible chromatin in the nervous system.365
210851802010L1 retrotransposition in neurons is modulated by MeCP2.241
163997022006Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome.232
239382952013Intragenic DNA methylation modulates alternative splicing by recruiting MeCP2 to promote exon recognition.193
160801192005Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.182
257621362015Disruption of DNA-methylation-dependent long gene repression in Rett syndrome.182
118097202002Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation.164
180427152007Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes.164
197363512009Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.151
183375882008Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.136

Citation

Dessen P

MECP2 (methyl-CpG binding protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41330/mecp2