Gene Information
|
Gene Name
|
MBD5 |
|
Gene ID
|
55777
|
|
Gene Full Name
|
methyl-CpG binding domain protein 5 |
|
Gene Alias
|
C2DELq23.1|DEL2Q23.1|MRD1 |
|
Transcripts
|
ENSG00000204406
|
|
Virus
|
HPV |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Nucleoplasm, Midbody; 
|
|
Membrane Info
|
Disease related genes, Human disease related genes, Predicted intracellular proteins |
|
Uniport_ID
|
Q9P267
|
|
HGNC ID
|
HGNC:20444
|
|
OMIM ID
|
611472 |
|
Summary
|
This gene encodes a member of the methyl-CpG-binding domain (MBD) family. The MBD consists of about 70 residues and is the minimal region required for a methyl-CpG-binding protein binding specifically to methylated DNA. In addition to the MBD domain, this protein contains a PWWP domain (Pro-Trp-Trp-Pro motif), which consists of 100-150 amino acids and is found in numerous proteins that are involved in cell division, growth and differentiation. Mutations in this gene cause an autosomal dominant type of cognitive disability. The encoded protein interacts with the polycomb repressive complex PR-DUB which catalyzes the deubiquitination of a lysine residue of histone 2A. Haploinsufficiency of this gene is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Alternatively spliced transcript variants have been found, but their full-length nature is not determined. [provided by RefSeq, Jul 2017] |
Target gene [MBD5] related to VISs 
Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section
| DVID |
Chromosome |
HM |
TFBS |
CA |
Sum of Overlapped Records |
Detail |
| 5004701 |
chr2 |
0 |
0 |
0 |
0 |
View |
| 5005095 |
chr2 |
15 |
0 |
0 |
15 |
View |
| 5015562 |
chr2 |
0 |
0 |
0 |
0 |
View |
| 5015563 |
chr2 |
8 |
0 |
3 |
11 |
View |
Target gene [MBD5] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
C GSE183048
|
Chip-seq |
24 |
Illumina HiSeq 4000 (Homo sapiens) |
|
GSE169622
|
Methylation profiling (Array) |
9 |
Infinium MethylationEPIC |
|
GSE65858
|
Expression array |
270 |
Illumina HumanHT-12 V4.0 expression beadchip |
|
GSE181805
|
Expression array |
25 |
[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version] |
|
GSE196215
|
RNA-seq |
8 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
GSE197461
|
scRNA-seq |
16 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
GSE140662
|
Expression array |
8 |
[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version] |
|
GSE55542
|
Expression array |
36 |
Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Probe Name version) |
|
C GSE143026
|
ATAC-seq;Chip-seq;RNA-seq |
30 |
Illumina HiSeq 2500 (Homo sapiens) |
|
TCGA_CESC
|
DNA methylation sequencing;RNA-seq |
288 |
TCGA |
|
GSE51993
|
Expression array |
48 |
Illumina Human v2 MicroRNA expression beadchip;Illumina HumanHT-12 V4.0 expression beadchip |
|
GSE55550
|
Expression array |
155 |
Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Probe Name version) |
|
GSE165883
|
RNA-seq |
20 |
Illumina NextSeq 500 (Homo sapiens) |
When the gene can detect a peak in the dataset, a peak plot will be displayed.
> Dataset: GSE183048 - MBD5 peak across samples
|
Peak Plot
|
> Dataset: GSE143026 - MBD5 peak across samples
|
Peak Plot
|
|
|
HPV Target gene Detail Information
