BBS2 [The Human Chemical-Genetic Interaction Map Project]

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======= BBS2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: BBS2
  * **<color #00a2e8>Official Name</color>**: Bardet-Biedl syndrome 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=583|583]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9BXC9|Q9BXC9]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=BBS2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20BBS2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606151|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014]. 
  * **<color #00a2e8>UniProt Summary</color>**:  The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization. {ECO:0000269|PubMed:17574030, ECO:0000269|PubMed:22072986}.

<button type='default' 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'>
No Pfam Domain information is available for this gene.
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|negative regulation of appetite by leptin-mediated signaling pathway|
|regulation of cilium movement involved in cell motility|
|regulation of cilium beat frequency involved in ciliary motility|
|BBSome|
|leptin-mediated signaling pathway|
|artery smooth muscle contraction|
|negative regulation of multicellular organism growth|
|tonic smooth muscle contraction|
|regulation of cilium beat frequency|
|sperm axoneme assembly|
|negative regulation of appetite|
|negative regulation of response to food|
|negative regulation of response to extracellular stimulus|
|negative regulation of response to nutrient levels|
|vascular smooth muscle contraction|
|regulation of cilium movement|
|cellular response to leptin stimulus|
|striatum development|
|regulation of response to food|
|melanosome transport|
|establishment of melanosome localization|
|response to leptin|
|pigment granule transport|
|regulation of cilium-dependent cell motility|
|regulation of appetite|
|establishment of pigment granule localization|
|subpallium development|
|melanosome localization|
|pigment granule localization|
|regulation of response to nutrient levels|
|regulation of response to extracellular stimulus|
|vasodilation|
|regulation of microtubule-based movement|
|vasoconstriction|
|positive regulation of multicellular organism growth|
|stereocilium|
|brain morphogenesis|
|Golgi to plasma membrane protein transport|
|RNA polymerase II repressing transcription factor binding|
|photoreceptor cell maintenance|
|negative regulation of blood vessel diameter|
|non-motile cilium assembly|
|cellular pigmentation|
|establishment of protein localization to plasma membrane|
|smooth muscle contraction|
|ciliary membrane|
|positive regulation of blood vessel diameter|
|Golgi to plasma membrane transport|
|axoneme assembly|
|microvillus|
|regulation of multicellular organism growth|
|sperm motility|
|flagellated sperm motility|
|retina homeostasis|
|hippocampus development|
|microtubule bundle formation|
|pigmentation|
|vesicle-mediated transport to the plasma membrane|
|cilium or flagellum-dependent cell motility|
|cilium-dependent cell motility|
|motile cilium|
|post-Golgi vesicle-mediated transport|
|negative regulation of developmental growth|
|fat cell differentiation|
|limbic system development|
|cerebral cortex development|
|ciliary basal body|
|regulation of tube diameter|
|regulation of blood vessel diameter|
|regulation of tube size|
|adult behavior|
|spermatid development|
|spermatid differentiation|
|vascular process in circulatory system|
|positive regulation of developmental growth|
|cartilage development|
|pallium development|
|establishment of vesicle localization|
|protein localization to plasma membrane|
|vesicle localization|
|tissue homeostasis|
|visual perception|
|regulation of microtubule-based process|
|connective tissue development|
|sensory perception of light stimulus|
|protein localization to cell periphery|
|negative regulation of growth|
|muscle contraction|
|germ cell development|
|telencephalon development|
|positive regulation of growth|
|establishment of protein localization to membrane|
|muscle system process|
|neuron projection|
|multicellular organismal homeostasis|
|regulation of developmental growth|
|anatomical structure homeostasis|
|cilium assembly|
|cellular process involved in reproduction in multicellular organism|
|establishment of organelle localization|
|negative regulation of response to external stimulus|
|cilium organization|
|Golgi vesicle transport|
|forebrain development|
|blood circulation|
|circulatory system process|
|plasma membrane bounded cell projection assembly|
|cell projection assembly|
|microtubule cytoskeleton organization|
|protein localization to membrane|
|skeletal system development|
|response to nutrient levels|
|regulation of anatomical structure size|
|response to extracellular stimulus|
|spermatogenesis|
|male gamete generation|
|behavior|
|organelle localization|
|cellular response to hormone stimulus|
|developmental process involved in reproduction|
|microtubule-based process|
|regulation of growth|
|cytokine-mediated signaling pathway|
|gamete generation|
|protein localization to organelle|
|brain development|
|organelle assembly|
|head development|
|multicellular organismal reproductive process|
|sexual reproduction|
|multicellular organism reproduction|
|response to hormone|
|regulation of cell motility|
|negative regulation of developmental process|
|animal organ morphogenesis|
|sensory perception|
|central nervous system development|
|regulation of locomotion|
|multi-organism reproductive process|
|regulation of cellular component movement|
|cellular response to cytokine stimulus|
|localization of cell|
|cell motility|
|regulation of response to external stimulus|
|response to cytokine|
|cytoskeleton organization|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|negative regulation of multicellular organismal process|
|cellular response to endogenous stimulus|
|locomotion|
|positive regulation of developmental process|
|nervous system process|
|reproductive process|
|reproduction|
|response to endogenous stimulus|
|protein transport|
|peptide transport|
|movement of cell or subcellular component|
|amide transport|
|cellular protein localization|
|cellular macromolecule localization|
|establishment of protein localization|
|negative regulation of response to stimulus|
|homeostatic process|
|cell development|
|negative regulation of gene expression|
|positive regulation of multicellular organismal process|
|tissue development|
|establishment of localization in cell|
|nitrogen compound transport|
|vesicle-mediated transport|
|system process|
|membrane|
</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>**: 6911
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.81 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='BBS2 Expression in NALM6 Cells: 4.81'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>