BBS12 [The Human Chemical-Genetic Interaction Map Project]

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======= BBS12 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: BBS12
  * **<color #00a2e8>Official Name</color>**: Bardet-Biedl syndrome 12
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=166379|166379]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q6ZW61|Q6ZW61]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=BBS12&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20BBS12|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/610683|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Involved in adipogenic differentiation. {ECO:0000269|PubMed:19190184, ECO:0000269|PubMed:20080638}.

<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'>
|Cpn60 TCP1|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|chaperone-mediated protein complex assembly|
|eating behavior|
|photoreceptor cell maintenance|
|negative regulation of fat cell differentiation|
|intraciliary transport|
|protein transport along microtubule|
|microtubule-based protein transport|
|retina homeostasis|
|feeding behavior|
|regulation of fat cell differentiation|
|transport along microtubule|
|cytoskeleton-dependent intracellular transport|
|microtubule-based transport|
|tissue homeostasis|
|cilium|
|protein-containing complex localization|
|microtubule-based movement|
|multicellular organismal homeostasis|
|anatomical structure homeostasis|
|cilium organization|
|behavior|
|microtubule-based process|
|negative regulation of cell differentiation|
|cellular protein-containing complex assembly|
|negative regulation of developmental process|
|intracellular protein transport|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|ATP binding|
|protein transport|
|intracellular transport|
|peptide transport|
|movement of cell or subcellular component|
|protein-containing complex assembly|
|amide transport|
|cellular protein localization|
|cellular macromolecule localization|
|establishment of protein localization|
|homeostatic process|
|regulation of cell differentiation|
|establishment of localization in cell|
|nitrogen compound transport|
|protein-containing complex subunit organization|
</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:exp130|JQ1 0.01μM R03 exp130]]|-2.03|
|[[:results:exp391|Pomalidomide 20μM R07 exp391]]|-1.91|
|[[:results:exp475|CyclicAMP 200μM R08 exp475]]|-1.86|
|[[:results:exp97|BI-6727 0.0125μM R03 exp97]]|1.71|
|[[:results:exp27|Pimelic-diphenylamide-106 0.5μM R00 exp27]]|1.81|
|[[:results:exp40|2-Methoxyestradiol 0.2μM R01 exp40]]|1.95|
|[[:results:exp89|Vemurafenib 6.6μM R02 exp89]]|2.04|
|[[:results:exp529|Thimerosal 0.85μM R08 exp529]]|2.36|
</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>**: 7883
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 1.11 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='BBS12 Expression in NALM6 Cells: 1.11'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>