FBN2 [The Human Chemical-Genetic Interaction Map Project]

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======= FBN2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: FBN2
  * **<color #00a2e8>Official Name</color>**: fibrillin 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2201|2201]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P35556|P35556]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=FBN2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20FBN2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/612570|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|EGF CA|
|cEGF|
|EGF 3|
|TB|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|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|
</modal>
\\

 === CRISPR Data ===
<button type='default' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
No hits were found.
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
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|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 9429
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -3.28 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='FBN2 Expression in NALM6 Cells: -3.28'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>