======= 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 |}}