LRRC8A [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.
======= LRRC8A =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: LRRC8A
  * **<color #00a2e8>Official Name</color>**: leucine rich repeat containing 8 VRAC subunit A
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=56262|56262]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q8IWT6|Q8IWT6]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=LRRC8A&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20LRRC8A|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/608360|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. The VRAC channel conducts iodide better than chloride and may also conduct organic osmolytes like taurine (PubMed:24725410, PubMed:24790029, PubMed:26530471, PubMed:26824658). LRRC8A and LRRC8D are required for the uptake of the drug cisplatin (PubMed:26530471). Required for in vivo channel activity, together with at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition (PubMed:24790029, PubMed:26824658). Can form functional channels by itself (in vitro) (PubMed:26824658). Involved in B-cell development: required for the pro-B cell to pre-B cell transition (PubMed:14660746). Also required for T-cell development (By similarity). {ECO:0000250|UniProtKB:Q80WG5, ECO:0000269|PubMed:14660746, ECO:0000269|PubMed:24725410, ECO:0000269|PubMed:24790029, ECO:0000269|PubMed:26530471, ECO:0000269|PubMed:26824658}.

<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'>
|LRR 4|
|DUF3733|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|anion channel activity|
|taurine transport|
|alkanesulfonate transport|
|pre-B cell differentiation|
|volume-sensitive anion channel activity|
|ion channel complex|
|immature B cell differentiation|
|aspartate transmembrane transport|
|protein hexamerization|
|xenobiotic transport|
|C4-dicarboxylate transport|
|cell volume homeostasis|
|sulfur compound transport|
|acidic amino acid transport|
|response to osmotic stress|
|amino acid transmembrane transport|
|dicarboxylic acid transport|
|B cell differentiation|
|amino acid transport|
|organic acid transmembrane transport|
|carboxylic acid transmembrane transport|
|B cell activation|
|inorganic anion transport|
|regulation of cell size|
|lymphocyte differentiation|
|anion transmembrane transport|
|organic acid transport|
|carboxylic acid transport|
|leukocyte differentiation|
|regulation of cellular component size|
|lymphocyte activation|
|organic anion transport|
|regulation of anatomical structure size|
|protein complex oligomerization|
|hemopoiesis|
|anion transport|
|hematopoietic or lymphoid organ development|
|cell surface|
|immune system development|
|cellular homeostasis|
|leukocyte activation|
|ion transmembrane transport|
|identical protein binding|
|cell activation|
|response to abiotic stimulus|
|transmembrane transport|
|ion transport|
|integral component of plasma membrane|
|protein-containing complex assembly|
|homeostatic process|
|nitrogen compound transport|
|protein-containing complex subunit organization|
|membrane|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' 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:exp215|Colchicine 0.009μM R05 exp215]]|-3.91|
|[[:results:exp228|Demecolcine 0.03μM R05 exp228]]|-3.61|
|[[:results:exp179|Combretastatin A4 0.002 to 0.003μM day4 R04 exp179]]|-2.74|
|[[:results:exp106|UM131593 0.2μM R03 exp106]]|-2.74|
|[[:results:exp72|LB-100 4.1μM R02 exp72]]|-2.42|
|[[:results:exp312|2-Methoxyestradiol 0.55 to 1μM on day4 R07 exp312]]|-2.35|
|[[:results:exp190|Vincristine 0.0005μM R04 exp190]]|-2.31|
|[[:results:exp460|BML-284 0.09μM R08 exp460]]|-2.08|
|[[:results:exp311|2-Methoxyestradiol 0.55 to 0.75μM  on day4 R07 exp311]]|-1.92|
|[[:results:exp210|LB-100 2μM R05 exp210]]|-1.7|
|[[:results:exp177|Apcin 25μM plus proTAME 2μM R04 exp177]]|1.71|
|[[:results:exp444|THZ531 0.225μM R08 exp444]]|1.79|
|[[:results:exp264|Arsenate 40μM R06 exp264]]|1.89|
|[[:results:exp180|Dynasore 10μM R04 exp180]]|1.92|
|[[:results:exp233|EPZ-5676 30μM R05 exp233]]|2.17|
|[[:results:exp468|CB-5083 0.4μM R08 exp468]]|2.29|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:k:kif15|KIF15]]|0.421|
|[[:human genes:k:klf16|KLF16]]|0.417|
|[[:human genes:l:lrrc8c|LRRC8C]]|0.407|
|[[:human genes:d:dlgap5|DLGAP5]]|0.403|
</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>**: 11579
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.12 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='LRRC8A Expression in NALM6 Cells: 6.12'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>