BBS4 [The Human Chemical-Genetic Interaction Map Project]

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======= BBS4 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: BBS4
  * **<color #00a2e8>Official Name</color>**: Bardet-Biedl syndrome 4
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=585|585]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q96RK4|Q96RK4]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=BBS4&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20BBS4|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/600374|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. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's 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 has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein 'BBSome' complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. 
  * **<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. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome. {ECO:0000269|PubMed:15107855, 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|
|sensory processing|
|protein localization to photoreceptor outer segment|
|regulation of cilium beat frequency involved in ciliary motility|
|regulation of cilium movement involved in cell motility|
|fat pad development|
|BBSome|
|retinal rod cell development|
|microtubule anchoring at centrosome|
|leptin-mediated signaling pathway|
|photoreceptor cell outer segment organization|
|regulation of cilium beat frequency|
|protein localization to non-motile cilium|
|microtubule anchoring at microtubule organizing center|
|dynactin binding|
|negative regulation of response to food|
|regulation of non-motile cilium assembly|
|negative regulation of appetite|
|negative regulation of response to extracellular stimulus|
|negative regulation of response to nutrient levels|
|regulation of cilium movement|
|cellular response to leptin stimulus|
|striatum development|
|negative regulation of systemic arterial blood pressure|
|regulation of response to food|
|protein localization to centrosome|
|pericentriolar material|
|melanosome transport|
|protein localization to microtubule organizing center|
|pigment granule transport|
|maintenance of protein location in nucleus|
|establishment of melanosome localization|
|response to leptin|
|regulation of cilium-dependent cell motility|
|regulation of appetite|
|establishment of pigment granule localization|
|melanosome localization|
|subpallium development|
|pigment granule localization|
|regulation of response to extracellular stimulus|
|regulation of response to nutrient levels|
|positive regulation of cilium assembly|
|ventricular system development|
|microtubule anchoring|
|ciliary transition zone|
|regulation of microtubule-based movement|
|centriolar satellite|
|positive regulation of multicellular organism growth|
|non-motile cilium|
|brain morphogenesis|
|protein localization to microtubule cytoskeleton|
|eye photoreceptor cell development|
|RNA polymerase II repressing transcription factor binding|
|adipose tissue development|
|photoreceptor cell maintenance|
|beta-tubulin binding|
|photoreceptor connecting cilium|
|alpha-tubulin binding|
|protein localization to cytoskeleton|
|maintenance of protein localization in organelle|
|eye photoreceptor cell differentiation|
|negative regulation of blood pressure|
|non-motile cilium assembly|
|protein localization to cilium|
|photoreceptor cell development|
|negative regulation of GTPase activity|
|face development|
|cellular pigmentation|
|photoreceptor inner segment|
|social behavior|
|negative regulation of actin filament polymerization|
|intraspecies interaction between organisms|
|ciliary membrane|
|photoreceptor cell differentiation|
|photoreceptor outer segment|
|heart looping|
|regulation of multicellular organism growth|
|embryonic heart tube morphogenesis|
|negative regulation of protein polymerization|
|determination of heart left/right asymmetry|
|microtubule motor activity|
|multi-organism behavior|
|mitotic cytokinesis|
|positive regulation of organelle assembly|
|retina homeostasis|
|maintenance of protein location in cell|
|embryonic heart tube development|
|regulation of stress fiber assembly|
|regulation of cilium assembly|
|hippocampus development|
|centrosome cycle|
|regulation of actomyosin structure organization|
|regulation of cytokinesis|
|neural tube closure|
|pigmentation|
|tube closure|
|regulation of actin filament bundle assembly|
|microtubule organizing center organization|
|regulation of systemic arterial blood pressure|
|maintenance of location in cell|
|cytoskeleton-dependent cytokinesis|
|primary neural tube formation|
|cytokinesis|
|motile cilium|
|positive regulation of plasma membrane bounded cell projection assembly|
|dendrite development|
|fat cell differentiation|
|maintenance of protein location|
|neural tube formation|
|limbic system development|
|cerebral cortex development|
|determination of left/right symmetry|
|neuron migration|
|embryonic epithelial tube formation|
|determination of bilateral symmetry|
|specification of symmetry|
|negative regulation of supramolecular fiber organization|
|negative regulation of protein complex assembly|
|epithelial tube formation|
|ciliary basal body|
|negative regulation of cytoskeleton organization|
|centriole|
|adult behavior|
|morphogenesis of embryonic epithelium|
|tube formation|
|eye morphogenesis|
|spermatid development|
|spermatid differentiation|
|neural tube development|
|protein localization to nucleus|
|maintenance of location|
|regulation of actin filament polymerization|
|regulation of cell division|
|positive regulation of developmental growth|
|pallium development|
|establishment of vesicle localization|
|regulation of blood pressure|
|regulation of actin polymerization or depolymerization|
|regulation of actin filament length|
|vesicle localization|
|tissue homeostasis|
|cilium|
|regulation of plasma membrane bounded cell projection assembly|
|regulation of cell projection assembly|
|regulation of organelle assembly|
|visual perception|
|regulation of microtubule-based process|
|regulation of protein polymerization|
|sensory perception of light stimulus|
|connective tissue development|
|heart morphogenesis|
|sensory organ morphogenesis|
|germ cell development|
|telencephalon development|
|positive regulation of growth|
|regulation of actin filament organization|
|embryonic organ morphogenesis|
|cognition|
|epithelial tube morphogenesis|
|multicellular organismal homeostasis|
|regulation of developmental growth|
|anatomical structure homeostasis|
|regulation of actin cytoskeleton organization|
|cilium assembly|
|regulation of supramolecular fiber organization|
|cellular process involved in reproduction in multicellular organism|
|eye development|
|visual system development|
|establishment of organelle localization|
|negative regulation of response to external stimulus|
|sensory system development|
|cilium organization|
|negative regulation of organelle organization|
|regulation of cellular component size|
|positive regulation of cell projection organization|
|forebrain development|
|regulation of actin filament-based process|
|blood circulation|
|regulation of lipid metabolic process|
|circulatory system process|
|morphogenesis of an epithelium|
|embryonic organ development|
|pattern specification process|
|plasma membrane bounded cell projection assembly|
|regulation of protein complex assembly|
|negative regulation of hydrolase activity|
|cell projection assembly|
|sensory perception of smell|
|microtubule cytoskeleton organization|
|regulation of GTPase activity|
|centrosome|
|cell division|
|response to nutrient levels|
|regulation of anatomical structure size|
|positive regulation of cellular component biogenesis|
|heart development|
|response to extracellular stimulus|
|sensory perception of chemical stimulus|
|regulation of cytoskeleton organization|
|spermatogenesis|
|sensory organ development|
|male gamete generation|
|tissue morphogenesis|
|embryonic morphogenesis|
|behavior|
|organelle localization|
|mitotic cell cycle process|
|cellular response to hormone stimulus|
|positive regulation of organelle organization|
|chordate embryonic development|
|embryo development ending in birth or egg hatching|
|tube morphogenesis|
|neuron projection development|
|developmental process involved in reproduction|
|microtubule-based process|
|regulation of growth|
|cytokine-mediated signaling pathway|
|mitotic cell cycle|
|gamete generation|
|regulation of plasma membrane bounded cell projection organization|
|negative regulation of cellular component organization|
|regulation of cell projection organization|
|protein localization to organelle|
|brain development|
|regulation of cell cycle process|
|organelle assembly|
|head development|
|negative regulation of catalytic activity|
|neuron development|
|multicellular organismal reproductive process|
|sexual reproduction|
|multicellular organism reproduction|
|tube development|
|circulatory system development|
|anatomical structure formation involved in morphogenesis|
|response to hormone|
|regulation of cell motility|
|animal organ morphogenesis|
|regulation of cellular component biogenesis|
|cell migration|
|sensory perception|
|embryo development|
|central nervous system development|
|regulation of locomotion|
|multi-organism reproductive process|
|regulation of cellular component movement|
|cell cycle process|
|cellular response to cytokine stimulus|
|neuron differentiation|
|localization of cell|
|cell motility|
|regulation of response to external stimulus|
|response to cytokine|
|cytoskeleton organization|
|epithelium development|
|plasma membrane bounded cell projection organization|
|negative regulation of molecular function|
|cell projection organization|
|regulation of cell cycle|
|positive regulation of cellular component organization|
|cellular response to endogenous stimulus|
|regulation of hydrolase activity|
|regulation of organelle organization|
|locomotion|
|cell cycle|
|positive regulation of developmental process|
|nervous system process|
|reproductive process|
|reproduction|
|response to endogenous stimulus|
|protein transport|
|intracellular transport|
|generation of neurons|
|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|
|neurogenesis|
|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|
|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:exp311|2-Methoxyestradiol 0.55 to 0.75μM  on day4 R07 exp311]]|-1.79|
</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>**: 9904
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.12 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='BBS4 Expression in NALM6 Cells: 4.12'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>