======= FBN2 ======= == Gene Information == * **Official Symbol**: FBN2 * **Official Name**: fibrillin 2 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2201|2201]] * **UniProt**: [[https://www.uniprot.org/uniprot/P35556|P35556]] * **Interactions**: [[https://thebiogrid.org/search.php?search=FBN2&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20FBN2|Open PubMed]] * **OMIM**: [[https://omim.org/entry/612570|Open OMIM]] == Function Summary == * **Entrez Summary**: The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]. * **UniProt Summary**: Fibrillin-2: Fibrillins are structural components of 10- 12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-2-containing microfibrils regulate the early process of elastic fiber assembly. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively. {ECO:0000250|UniProtKB:Q61555}. |EGF CA| |cEGF| |EGF 3| |TB| |sequestering of TGFbeta in extracellular matrix| |maintenance of protein location in extracellular region| |bone trabecula formation| |extracellular matrix constituent conferring elasticity| |sequestering of extracellular ligand from receptor| |microfibril| |extracellular regulation of signal transduction| |bone trabecula morphogenesis| |extracellular negative regulation of signal transduction| |trabecula formation| |embryonic eye morphogenesis| |positive regulation of bone mineralization| |trabecula morphogenesis| |positive regulation of biomineralization| |positive regulation of biomineral tissue development| |positive regulation of osteoblast differentiation| |negative regulation of transforming growth factor beta receptor signaling pathway| |regulation of bone mineralization| |negative regulation of cellular response to transforming growth factor beta stimulus| |positive regulation of ossification| |regulation of biomineral tissue development| |regulation of biomineralization| |maintenance of protein location| |regulation of osteoblast differentiation| |regulation of transforming growth factor beta receptor signaling pathway| |negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway| |regulation of cellular response to transforming growth factor beta stimulus| |embryonic appendage morphogenesis| |embryonic limb morphogenesis| |extracellular matrix structural constituent| |eye morphogenesis| |negative regulation of cellular response to growth factor stimulus| |appendage morphogenesis| |limb morphogenesis| |maintenance of location| |protein localization to extracellular region| |limb development| |appendage development| |regulation of ossification| |extracellular matrix| |regulation of transmembrane receptor protein serine/threonine kinase signaling pathway| |skeletal system morphogenesis| |sensory organ morphogenesis| |regulation of cellular response to growth factor stimulus| |embryonic organ morphogenesis| |camera-type eye development| |extracellular matrix organization| |eye development| |visual system development| |collagen-containing extracellular matrix| |sensory system development| |extracellular structure organization| |embryonic organ development| |skeletal system development| |sensory organ development| |embryonic morphogenesis| |calcium ion binding| |anatomical structure formation involved in morphogenesis| |animal organ morphogenesis| |positive regulation of cell differentiation| |embryo development| |negative regulation of signal transduction| |negative regulation of cell communication| |negative regulation of signaling| |positive regulation of developmental process| |negative regulation of response to stimulus| |positive regulation of multicellular organismal process| |regulation of cell differentiation| |extracellular region| \\ === CRISPR Data === No hits were found. 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**: 9429 * **Expression level (log2 read counts)**: -3.28 {{:chemogenomics:nalm6 dist.png?nolink |}}