======= MARVELD2 ======= == Gene Information == * **Official Symbol**: MARVELD2 * **Official Name**: MARVEL domain containing 2 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=153562|153562]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q8N4S9|Q8N4S9]] * **Interactions**: [[https://thebiogrid.org/search.php?search=MARVELD2&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MARVELD2|Open PubMed]] * **OMIM**: [[https://omim.org/entry/610572|Open OMIM]] == Function Summary == * **Entrez Summary**: The protein encoded by this gene is a membrane protein found at the tight junctions between epithelial cells. The encoded protein helps establish epithelial barriers such as those in the organ of Corti, where these barriers are required for normal hearing. Defects in this gene are a cause of deafness autosomal recessive type 49 (DFNB49). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]. * **UniProt Summary**: Plays a role in the formation of the epithelial barriers. The separation of the endolymphatic and perilymphatic spaces of the organ of Corti from one another by epithelial barriers is required for normal hearing. {ECO:0000269|PubMed:17186462}. |Occludin ELL| |MARVEL| |tricellular tight junction| |paranodal junction| |Schmidt-Lanterman incisure| |establishment of endothelial barrier| |bicellular tight junction assembly| |tight junction assembly| |tight junction organization| |apical junction assembly| |endothelial cell development| |endothelial cell differentiation| |endothelium development| |cell-cell junction assembly| |bicellular tight junction| |cell-cell junction organization| |sensory perception of sound| |sensory perception of mechanical stimulus| |cell junction assembly| |epithelial cell development| |basolateral plasma membrane| |cell junction organization| |cytoplasmic vesicle| |apical plasma membrane| |cell junction| |epithelial cell differentiation| |sensory perception| |epithelium development| |nervous system process| |cell development| |tissue development| |system process| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp499|LY2090314 0.003μM R08 exp499]]|-2.1| |[[:results:exp294|Nutlin-3A 1.6μM R06 exp294]]|-1.81| |[[:results:exp498|Lead acetate 2000μM R08 exp498 no dilution day6]]|-1.72| 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**: 14837 * **Expression level (log2 read counts)**: 3.46 {{:chemogenomics:nalm6 dist.png?nolink |}}