======= MTMR14 =======
== Gene Information ==
* **Official Symbol**: MTMR14
* **Official Name**: myotubularin related protein 14
* **Aliases and Previous Symbols**: N/A
* **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=64419|64419]]
* **UniProt**: [[https://www.uniprot.org/uniprot/Q8NCE2|Q8NCE2]]
* **Interactions**: [[https://thebiogrid.org/search.php?search=MTMR14&organism=9606|BioGRID]]
* **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MTMR14|Open PubMed]]
* **OMIM**: [[https://omim.org/entry/611089|Open OMIM]]
== Function Summary ==
* **Entrez Summary**: This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.[provided by RefSeq, Apr 2010].
* **UniProt Summary**: N/A
No Pfam Domain information is available for this gene.
|phosphatidylinositol-3-phosphatase activity|
|ruffle|
|protein tyrosine phosphatase activity|
|peptidyl-tyrosine dephosphorylation|
|phosphatidylinositol biosynthetic process|
|macroautophagy|
|phosphatidylinositol metabolic process|
|glycerophospholipid biosynthetic process|
|protein dephosphorylation|
|glycerolipid biosynthetic process|
|phospholipid biosynthetic process|
|process utilizing autophagic mechanism|
|autophagy|
|glycerophospholipid metabolic process|
|dephosphorylation|
|phospholipid metabolic process|
|glycerolipid metabolic process|
|organophosphate biosynthetic process|
|lipid biosynthetic process|
|perinuclear region of cytoplasm|
|organophosphate metabolic process|
|cellular lipid metabolic process|
|lipid metabolic process|
|cellular catabolic process|
\\
=== CRISPR Data ===
^Screen^Score^
|[[:results:exp312|2-Methoxyestradiol 0.55 to 1μM on day4 R07 exp312]]|1.75|
No correlation found to any other genes in chemogenomics.
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|
== Essentiality in NALM6 ==
* **Essentiality Rank**: 11219
* **Expression level (log2 read counts)**: 5.4
{{:chemogenomics:nalm6 dist.png?nolink |}}