SPTBN2 [The Human Chemical-Genetic Interaction Map Project]

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======= SPTBN2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: SPTBN2
  * **<color #00a2e8>Official Name</color>**: spectrin beta, non-erythrocytic 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=6712|6712]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O15020|O15020]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=SPTBN2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SPTBN2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/604985|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Probably plays an important role in neuronal membrane skeleton.

<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'>
|CAMSAP CH|
|PH|
|CH|
|Spectrin|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|postsynaptic spectrin-associated cytoskeleton|
|structural constituent of synapse|
|spectrin|
|cerebellar Purkinje cell layer morphogenesis|
|parallel fiber to Purkinje cell synapse|
|cerebellar Purkinje cell layer development|
|cerebellar cortex morphogenesis|
|actin filament capping|
|negative regulation of actin filament depolymerization|
|cerebellum morphogenesis|
|hindbrain morphogenesis|
|cerebellar cortex development|
|regulation of actin filament depolymerization|
|negative regulation of actin filament polymerization|
|negative regulation of protein depolymerization|
|negative regulation of protein polymerization|
|negative regulation of protein complex disassembly|
|multicellular organism growth|
|regulation of protein depolymerization|
|postsynapse organization|
|synapse assembly|
|presynapse|
|antigen processing and presentation of exogenous peptide antigen via MHC class II|
|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|
|antigen processing and presentation of peptide antigen via MHC class II|
|cerebellum development|
|structural constituent of cytoskeleton|
|phospholipid binding|
|metencephalon development|
|regulation of protein complex disassembly|
|negative regulation of supramolecular fiber organization|
|negative regulation of protein complex assembly|
|negative regulation of cytoskeleton organization|
|adult behavior|
|hindbrain development|
|regulation of actin filament polymerization|
|antigen processing and presentation of exogenous peptide antigen|
|regulation of actin polymerization or depolymerization|
|regulation of actin filament length|
|antigen processing and presentation of exogenous antigen|
|antigen processing and presentation of peptide antigen|
|endoplasmic reticulum to Golgi vesicle-mediated transport|
|antigen processing and presentation|
|regulation of protein polymerization|
|axon guidance|
|regulation of actin filament organization|
|neuron projection guidance|
|actin binding|
|synapse organization|
|cadherin binding|
|apical plasma membrane|
|regulation of actin cytoskeleton organization|
|glutamatergic synapse|
|regulation of supramolecular fiber organization|
|MAPK cascade|
|axonogenesis|
|neuronal cell body|
|Golgi vesicle transport|
|negative regulation of organelle organization|
|regulation of cellular component size|
|developmental growth|
|regulation of actin filament-based process|
|growth|
|signal transduction by protein phosphorylation|
|axon development|
|cell morphogenesis involved in neuron differentiation|
|regulation of protein complex assembly|
|neuron projection morphogenesis|
|plasma membrane bounded cell projection morphogenesis|
|cell projection morphogenesis|
|regulation of anatomical structure size|
|cell part morphogenesis|
|regulation of cytoskeleton organization|
|cell junction|
|chemotaxis|
|taxis|
|cell morphogenesis involved in differentiation|
|behavior|
|neuron projection development|
|negative regulation of cellular component organization|
|cell morphogenesis|
|brain development|
|head development|
|neuron development|
|cellular component morphogenesis|
|regulation of cellular component biogenesis|
|protein phosphorylation|
|central nervous system development|
|neuron differentiation|
|cytoskeleton organization|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|phosphorylation|
|regulation of organelle organization|
|locomotion|
|intracellular transport|
|generation of neurons|
|movement of cell or subcellular component|
|extracellular space|
|neurogenesis|
|cell development|
|intracellular signal transduction|
|establishment of localization in cell|
|vesicle-mediated transport|
</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:exp299|Talazoparib 0.006μM R06 exp299]]|1.99|
</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>**: 12272
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.64 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='SPTBN2 Expression in NALM6 Cells: 6.64'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>