BFSP2 [The Human Chemical-Genetic Interaction Map Project]

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======= BFSP2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: BFSP2
  * **<color #00a2e8>Official Name</color>**: beaded filament structural protein 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=8419|8419]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q13515|Q13515]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=BFSP2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20BFSP2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/603212|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Involved in stabilization of lens fiber cell cytoskeleton. {ECO:0000250|UniProtKB:Q6NVD9}.

<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'>
|Filament|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|lens fiber cell development|
|structural constituent of eye lens|
|lens fiber cell differentiation|
|intermediate filament cytoskeleton organization|
|intermediate filament-based process|
|lens development in camera-type eye|
|structural constituent of cytoskeleton|
|intermediate filament|
|cell cortex|
|cell maturation|
|epithelial cell development|
|visual perception|
|sensory perception of light stimulus|
|developmental maturation|
|camera-type eye development|
|eye development|
|visual system development|
|sensory system development|
|sensory organ development|
|epithelial cell differentiation|
|sensory perception|
|cytoskeleton organization|
|epithelium development|
|nervous system process|
|cell development|
|tissue development|
|system process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' 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'>
^Screen^Score^
|[[:results:exp36|TRAIL 50ng/ml R00 exp36]]|-2.27|
|[[:results:exp444|THZ531 0.225μM R08 exp444]]|-1.77|
|[[:results:exp439|QNZ 0.01μM R08 exp439]]|1.81|
</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>**: 9156
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -0.33 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='BFSP2 Expression in NALM6 Cells: -0.33'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>