MTMR2 [The Human Chemical-Genetic Interaction Map Project]

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======= MTMR2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: MTMR2
  * **<color #00a2e8>Official Name</color>**: myotubularin related protein 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=8898|8898]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q13614|Q13614]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=MTMR2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MTMR2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/603557|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate. {ECO:0000269|PubMed:11733541, ECO:0000269|PubMed:12668758, ECO:0000269|PubMed:21372139}.

<button type='primary' 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'>
|GRAM|
|Myotub-related|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|negative regulation of receptor catabolic process|
|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|
|regulation of phosphatidylinositol dephosphorylation|
|positive regulation of early endosome to late endosome transport|
|negative regulation of myelination|
|negative regulation of excitatory postsynaptic potential|
|regulation of receptor catabolic process|
|dendritic spine maintenance|
|phosphatidylinositol-3-phosphatase activity|
|negative regulation of receptor internalization|
|positive regulation of cytoplasmic transport|
|inositol phosphate dephosphorylation|
|phosphorylated carbohydrate dephosphorylation|
|inositol phosphate catabolic process|
|regulation of early endosome to late endosome transport|
|myelin assembly|
|phosphatidylinositol dephosphorylation|
|negative regulation of receptor-mediated endocytosis|
|regulation of cytoplasmic transport|
|negative regulation of nervous system process|
|polyol catabolic process|
|synaptic membrane|
|vacuolar membrane|
|dendritic spine organization|
|phospholipid dephosphorylation|
|modulation of excitatory postsynaptic potential|
|neuron projection organization|
|protein tyrosine/serine/threonine phosphatase activity|
|regulation of myelination|
|negative regulation of endocytosis|
|cellular component maintenance|
|regulation of receptor internalization|
|alcohol catabolic process|
|inositol phosphate metabolic process|
|negative regulation of synaptic transmission|
|organic hydroxy compound catabolic process|
|regulation of phospholipid metabolic process|
|postsynapse organization|
|protein tyrosine phosphatase activity|
|regulation of receptor-mediated endocytosis|
|peptidyl-tyrosine dephosphorylation|
|cellular component assembly involved in morphogenesis|
|myelination|
|axon ensheathment|
|ensheathment of neurons|
|phosphatidylinositol biosynthetic process|
|polyol metabolic process|
|synaptic vesicle|
|organophosphate catabolic process|
|regulation of nervous system process|
|dendritic spine|
|early endosome membrane|
|phosphatidylinositol metabolic process|
|cellular carbohydrate metabolic process|
|lipid modification|
|regulation of endocytosis|
|glycerophospholipid biosynthetic process|
|positive regulation of intracellular transport|
|regulation of dephosphorylation|
|protein dephosphorylation|
|glycerolipid biosynthetic process|
|phospholipid biosynthetic process|
|negative regulation of cellular catabolic process|
|postsynaptic density|
|synapse organization|
|axon|
|glycerophospholipid metabolic process|
|dephosphorylation|
|negative regulation of catabolic process|
|negative regulation of nervous system development|
|alcohol metabolic process|
|regulation of intracellular transport|
|phospholipid metabolic process|
|glycerolipid metabolic process|
|regulation of lipid metabolic process|
|dendrite|
|regulation of membrane potential|
|small molecule catabolic process|
|modulation of chemical synaptic transmission|
|regulation of trans-synaptic signaling|
|organic hydroxy compound metabolic process|
|carbohydrate metabolic process|
|negative regulation of transport|
|organophosphate biosynthetic process|
|regulation of vesicle-mediated transport|
|lipid biosynthetic process|
|regulation of system process|
|intracellular membrane-bounded organelle|
|perinuclear region of cytoplasm|
|negative regulation of cellular component organization|
|neuron development|
|cellular component morphogenesis|
|regulation of cellular catabolic process|
|protein homodimerization activity|
|organophosphate metabolic process|
|anatomical structure formation involved in morphogenesis|
|regulation of cellular localization|
|regulation of nervous system development|
|negative regulation of developmental process|
|cellular lipid metabolic process|
|positive regulation of transport|
|regulation of catabolic process|
|neuron differentiation|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|negative regulation of multicellular organismal process|
|lipid metabolic process|
|negative regulation of signal transduction|
|negative regulation of cell communication|
|negative regulation of signaling|
|generation of neurons|
|negative regulation of response to stimulus|
|neurogenesis|
|cell development|
|small molecule metabolic process|
|organic substance catabolic process|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|regulation of transport|
</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:exp169|BH1 1μM R04 exp169]]|-1.74|
</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: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 12853
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.53 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='MTMR2 Expression in NALM6 Cells: 4.53'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>