MBD5 [The Human Chemical-Genetic Interaction Map Project]

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======= MBD5 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: MBD5
  * **<color #00a2e8>Official Name</color>**: methyl-CpG binding domain protein 5
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=55777|55777]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9P267|Q9P267]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=MBD5&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MBD5|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/611472|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Binds to heterochromatin. Does not interact with either methylated or unmethylated DNA (in vitro).

<button type='default' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
No Pfam Domain information is available for this gene.
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|positive regulation of growth hormone receptor signaling pathway|
|regulation of growth hormone receptor signaling pathway|
|chromocenter|
|regulation of multicellular organism growth|
|regulation of behavior|
|midbody|
|glucose homeostasis|
|carbohydrate homeostasis|
|protein deubiquitination|
|protein modification by small protein removal|
|regulation of developmental growth|
|chromatin binding|
|regulation of growth|
|protein modification by small protein conjugation or removal|
|chemical homeostasis|
|proteolysis|
|DNA binding|
|homeostatic process|
|positive regulation of signal transduction|
|positive regulation of cell communication|
|positive regulation of signaling|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp77|Prochlorperazine 5.2μM R02 exp77]]|-1.74|
|[[:results:exp530|Thioridazine 5μM R08 exp530]]|-1.72|
|[[:results:exp31|Rifampicin 1μM R00 exp31]]|1.73|
|[[:results:exp16|DABN 2μM R00 exp16]]|1.74|
|[[:results:exp25|Oligomycin-A 2μM R00 exp25]]|2.02|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/726
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/25|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/15|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/14|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/7|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 9738
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 3.89 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='MBD5 Expression in NALM6 Cells: 3.89'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>