MECP2

GENE INFORMATION

? »

Gene name

MECP2 (HGNC Symbol)

Synonyms

MRX16, MRX79, RTT

Description

methyl CpG binding protein 2 (Rett syndrome) (HGNC Symbol)

Entrez gene summary

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 mental retardation in females. [provided by RefSeq, Jul 2009]

Chromosome

X (Chromosome progress)

Cytoband

q28

Chromosome location (bp)

153287024 - 153402578

Ensembl

ENSG00000169057 (version 73.37)

Entrez gene

4204

UniProt

P51608 (UniProt - Evidence at protein level)

neXtProt

NX_P51608

Antibodypedia

MECP2 antibodies
 

PROTEIN VIEW

? »
 
 
 
MECP2-001
 
MECP2-002
 
MECP2-003
 
MECP2-005
 
MECP2-008
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MECP2-001 ENSP00000301948
ENST00000303391
P51608
Show all »
Show » Show » 486 52.4 No 0
MECP2-002 ENSP00000395535
ENST00000453960
P51608
Show all »
Show » Show » 498 53.3 No 0
MECP2-003 ENSP00000358973
ENST00000369957
34 3.1 No 0
MECP2-005 ENSP00000384865
ENST00000407218
B5MCB4
Show all »
Show » Show » 172 19.1 No 0
MECP2-008 ENSP00000416267
ENST00000415944
C9JH89
Show all »
Show » 50 5.7 No 0