NBEAL2 [The Human Chemical-Genetic Interaction Map Project]

This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong.
======= NBEAL2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: NBEAL2
  * **<color #00a2e8>Official Name</color>**: neurobeachin like 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=23218|23218]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q6ZNJ1|Q6ZNJ1]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=NBEAL2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20NBEAL2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/614169|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSeq, Dec 2011]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Probably involved in thrombopoiesis. Plays a role in the development or secretion of alpha-granules, that contain several growth factors important for platelet biogenesis. {ECO:0000269|PubMed:21765411, ECO:0000269|PubMed:21765412}.

<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'>
|Beach|
|WD40|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|platelet formation|
|platelet morphogenesis|
|ficolin-1-rich granule membrane|
|tertiary granule membrane|
|myeloid cell differentiation|
|neutrophil degranulation|
|neutrophil activation involved in immune response|
|neutrophil mediated immunity|
|neutrophil activation|
|granulocyte activation|
|leukocyte degranulation|
|myeloid leukocyte mediated immunity|
|myeloid cell activation involved in immune response|
|hemopoiesis|
|cell morphogenesis involved in differentiation|
|myeloid leukocyte activation|
|hematopoietic or lymphoid organ development|
|leukocyte activation involved in immune response|
|cell activation involved in immune response|
|immune system development|
|regulated exocytosis|
|cell morphogenesis|
|leukocyte mediated immunity|
|exocytosis|
|cellular component morphogenesis|
|anatomical structure formation involved in morphogenesis|
|leukocyte activation|
|secretion by cell|
|endoplasmic reticulum|
|export from cell|
|cell activation|
|immune effector process|
|secretion|
|cell development|
|immune response|
|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:exp79|Q15 2.7μM R02 exp79]]|-2.04|
|[[:results:exp379|MSC2530818 10μM R07 exp379]]|-1.92|
|[[:results:exp432|YM155 0.001μM R08 exp432]]|-1.89|
|[[:results:exp45|Docetaxel 0.002μM R01 exp45]]|1.8|
|[[:results:exp410|THZ531 0.11 to 0.125μM on day4 R07 exp410]]|1.81|
|[[:results:exp444|THZ531 0.225μM R08 exp444]]|1.91|
|[[:results:exp409|THZ531 0.11μM R07 exp409]]|2.03|
|[[:results:exp413|THZ531 0.11 to 0.175μM on day4 R07 exp413]]|2.46|
|[[:results:exp412|THZ531 0.11 to 0.125 to 0.35μM on day4 then day6 R07 exp412]]|2.59|
</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>**: 7879
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 7.08 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='NBEAL2 Expression in NALM6 Cells: 7.08'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>