Enrichment analyses of diseases and pathways associated with precocious puberty using PrecocityDB

Gene Information

Gene Symbol

MECP2

Aliases

AUTSX3, MRX16, MRX79, MRXS13, MRXSL, PPMX, RS, RTS, RTT

Entrez Gene ID

4204

Gene Name

Methyl-CpG binding protein 2

Chromosomal Location

Xq28

HGNC ID

6990

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 cognitive disability in females. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]

RefSeq DNA

NG_007107.2

RefSeq mRNA

NM_004992.3, NM_001110792.1, AJ132917.1, NM_004992.4, NM_001110792.2, NM_001316337.2, NM_001369391.2, NM_001369392.2, NM_001369393.2, NM_001369394.2

e!Ensembl

Gene	ENSG00000169057
Transcript	ENST00000303391, ENST00000453960, ENST00000628176, ENST00000407218, ENST00000637917, ENST00000486506, ENST00000369957, ENST00000496908, ENST00000631210, ENST00000481807, ENST00000488293, ENST00000463644, ENST00000460227, ENST00000415944, ENST00000626422, ENST00000625300, ENST00000630151, ENST00000637533, ENST00000637791, ENST00000638041, ENST00000627864, ENST00000637467, ENST00000629277, ENST00000611468, ENST00000622433, ENST00000640414
Protein	ENSP00000301948, ENSP00000395535, ENSP00000486978, ENSP00000384865, ENSP00000489847, , ENSP00000358973, ENSP00000416267, ENSP00000486089, ENSP00000479736, ENSP00000484470, ENSP00000492871

SNPs

SNP	SNP ID	Associated disease	References
0.4Mb duplication of the Xq28 region that contained the IRAK1, MECP2 genes and a part of the FLNA gene.		Gonadotropin-dependent precocious puberty (GDPP)	27649574

Gene Ontology (GO)

Show/Hide all(26 )

GO ID	Ontology	Function	Evidence	Reference
GO:0000122	Biological process	Negative regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007052	Biological process	Mitotic spindle organization	IMP	25527496
GO:0008284	Biological process	Positive regulation of cell proliferation	IMP	25527496
GO:0010629	Biological process	Negative regulation of gene expression	IDA	23960241
GO:0010971	Biological process	Positive regulation of G2/M transition of mitotic cell cycle	IMP	25527496
GO:0016525	Biological process	Negative regulation of angiogenesis	IMP	23960241
GO:0043537	Biological process	Negative regulation of blood vessel endothelial cell migration	IDA	23960241
GO:0045892	Biological process	Negative regulation of transcription, DNA-templated	IDA	11441023
GO:0090063	Biological process	Positive regulation of microtubule nucleation	IMP	25527496
GO:1905643	Biological process	Positive regulation of DNA methylation	IDA	23960241
GO:0000792	Cellular component	Heterochromatin	IBA	21873635
GO:0000792	Cellular component	Heterochromatin	IDA	11441023
GO:0005615	Cellular component	Extracellular space	HDA	22664934
GO:0005634	Cellular component	Nucleus	IBA	21873635
GO:0005634	Cellular component	Nucleus	IDA	11441023, 21782149
GO:0005813	Cellular component	Centrosome	IMP	25527496
GO:0003677	Molecular function	DNA binding	IBA	21873635
GO:0003682	Molecular function	Chromatin binding	IBA	21873635
GO:0003714	Molecular function	Transcription corepressor activity	IDA	10773092
GO:0003723	Molecular function	RNA binding	HDA	22658674
GO:0005515	Molecular function	Protein binding	IPI	15696166, 19820693, 23770565, 25609649
GO:0008327	Molecular function	Methyl-CpG binding	IBA	21873635
GO:0010385	Molecular function	Double-stranded methylated DNA binding	IBA	21873635
GO:0010385	Molecular function	Double-stranded methylated DNA binding	IMP	17296936
GO:0019904	Molecular function	Protein domain specific binding	IPI	11441023
GO:0047485	Molecular function	Protein N-terminus binding	IPI	11441023

Protein Information

Protein Name

Methyl-CpG-binding protein 2, meCp-2 protein

Function

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).

Refseq Proteins

NP_004983.1, NP_001104262.1, CAB46446.1, NP_001303266.1, NP_001356320.1, NP_001356321.1, NP_001356322.1, NP_001356323.1

UniProt

P51608

PDB

1QK9, 3C2I, 5BT2, 6C1Y, 6OGJ, 6OGK