======= SPTBN2 =======
== Gene Information ==
* **Official Symbol**: SPTBN2
* **Official Name**: spectrin beta, non-erythrocytic 2
* **Aliases and Previous Symbols**: N/A
* **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=6712|6712]]
* **UniProt**: [[https://www.uniprot.org/uniprot/O15020|O15020]]
* **Interactions**: [[https://thebiogrid.org/search.php?search=SPTBN2&organism=9606|BioGRID]]
* **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SPTBN2|Open PubMed]]
* **OMIM**: [[https://omim.org/entry/604985|Open OMIM]]
== Function Summary ==
* **Entrez Summary**: 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].
* **UniProt Summary**: Probably plays an important role in neuronal membrane skeleton.
|CAMSAP CH|
|PH|
|CH|
|Spectrin|
|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|
\\
=== CRISPR Data ===
^Screen^Score^
|[[:results:exp299|Talazoparib 0.006μM R06 exp299]]|1.99|
No correlation found to any other genes in chemogenomics.
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|
== Essentiality in NALM6 ==
* **Essentiality Rank**: 12272
* **Expression level (log2 read counts)**: 6.64
{{:chemogenomics:nalm6 dist.png?nolink |}}