|
|
MECP2
(Homo sapiens)
MBD
|
TF Information |
|---|
| Pfam ID |
Interpro ID |
Gene ID |
CIS-BP ID |
Sequence source |
Animal TF db |
| PF01429 (MBD) |
IPR001739 |
ENSG00000169057 |
T260168_2.00 |
Ensembl (2018-Dec-8) |
Link out |
| NCBI Gene Info: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] |
Directly determined binding motifs |
|---|
| Name/Motif ID |
Species |
Forward |
Reverse |
Type/Study/Study ID |
SR
Score |
DBD
Identity |
MECP2
M09257_2.00 |
Homo sapiens |
SCCGGRR |
YYCCGGS |
Misc
Kulakovskiy et al.(2013)
MECP2_HUMAN.H11MO.0.C |
(Direct) |
(Direct) |
MECP2
M11032_2.00 |
Homo sapiens |
Transfac license required
|
Transfac license required
|
Transfac
Matys et al.(2006)
V$MECP2_01 |
(Direct) |
(Direct) |
MECP2
M11033_2.00 |
Homo sapiens |
Transfac license required
|
Transfac license required
|
Transfac
Matys et al.(2006)
V$MECP2_02 |
(Direct) |
(Direct) |
MECP2
M11034_2.00 |
Homo sapiens |
Transfac license required
|
Transfac license required
|
Transfac
Matys et al.(2006)
V$MECP2_Q4_01 |
(Direct) |
(Direct) |
MECP2
M11035_2.00 |
Homo sapiens |
Transfac license required
|
Transfac license required
|
Transfac
Matys et al.(2006)
V$MECP2_Q4 |
(Direct) |
(Direct) |
Motifs from related TFs |
|---|
| Name/Motif ID |
Species |
Forward |
Reverse |
Type/Study/Study ID |
SR
Score |
DBD
Identity |
Mecp2
M00806_2.00 |
Mus musculus |
NNNNNHAHNN |
NNDTDNNNNN |
PBM
Weirauch et al.(2013)
pTH3054
|
0.973
|
0.973
|
Mecp2
M09259_2.00 |
Mus musculus |
SCCGGRR |
YYCCGGS |
Misc
Kulakovskiy et al.(2013)
MECP2_MOUSE.H11MO.0.C
|
0.973
|
0.973
|
| For this family, TFs with SR scores > 0.700 will likely have a similar motif |