======= TMEM231 ======= == Gene Information == * **Official Symbol**: TMEM231 * **Official Name**: transmembrane protein 231 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=79583|79583]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q9H6L2|Q9H6L2]] * **Interactions**: [[https://thebiogrid.org/search.php?search=TMEM231&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20TMEM231|Open PubMed]] * **OMIM**: [[https://omim.org/entry/614949|Open OMIM]] == Function Summary == * **Entrez Summary**: This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]. * **UniProt Summary**: Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity). {ECO:0000250}. |NAcGluc Transf| |MKS complex| |ciliary transition zone| |neuroepithelial cell differentiation| |ciliary membrane| |embryonic digit morphogenesis| |smoothened signaling pathway| |columnar/cuboidal epithelial cell differentiation| |embryonic limb morphogenesis| |embryonic appendage morphogenesis| |limb morphogenesis| |appendage morphogenesis| |limb development| |appendage development| |camera-type eye development| |cilium assembly| |eye development| |visual system development| |cilium organization| |sensory system development| |in utero embryonic development| |plasma membrane bounded cell projection assembly| |cell projection assembly| |vasculature development| |cardiovascular system development| |sensory organ development| |embryonic morphogenesis| |chordate embryonic development| |embryo development ending in birth or egg hatching| |epithelial cell differentiation| |organelle assembly| |circulatory system development| |embryo development| |regulation of protein localization| |epithelium development| |plasma membrane bounded cell projection organization| |cell projection organization| |tissue development| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp533|TNF-alpha 44ng/ml R08 exp533]]|-1.73| |[[:results:exp69|Deguelin 0.05μM R02 exp69]]|-1.7| 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**: 11475 * **Expression level (log2 read counts)**: 3.43 {{:chemogenomics:nalm6 dist.png?nolink |}}