ERLIN2 [The Human Chemical-Genetic Interaction Map Project]

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======= ERLIN2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ERLIN2
  * **<color #00a2e8>Official Name</color>**: ER lipid raft associated 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=11160|11160]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O94905|O94905]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ERLIN2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ERLIN2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/611605|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a member of the SPFH domain-containing family of lipid raft-associated proteins. The encoded protein is localized to lipid rafts of the endoplasmic reticulum and plays a critical role in inositol 1,4,5-trisphosphate (IP3) signaling by mediating ER-associated degradation of activated IP3 receptors. Mutations in this gene are a cause of spastic paraplegia-18 (SPG18). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs) such as ITPR1 (PubMed:19240031, PubMed:17502376). Promotes sterol-accelerated ERAD of HMGCR probably implicating an AMFR/gp78-containing ubiquitin ligase complex (PubMed:21343306). Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway. May promote ER retention of the SCAP-SREBF complex (PubMed:24217618). {ECO:0000269|PubMed:17502376, ECO:0000269|PubMed:19240031, ECO:0000269|PubMed:21343306, ECO:0000269|PubMed:24217618}.

<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'>
|Band 7|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|negative regulation of cholesterol metabolic process|
|negative regulation of sterol biosynthetic process|
|negative regulation of cholesterol biosynthetic process|
|SREBP signaling pathway|
|cellular response to sterol depletion|
|response to sterol depletion|
|negative regulation of alcohol biosynthetic process|
|negative regulation of fatty acid biosynthetic process|
|negative regulation of steroid biosynthetic process|
|negative regulation of steroid metabolic process|
|negative regulation of fatty acid metabolic process|
|ER-nucleus signaling pathway|
|regulation of sterol biosynthetic process|
|regulation of cholesterol biosynthetic process|
|regulation of fatty acid biosynthetic process|
|negative regulation of lipid biosynthetic process|
|cholesterol binding|
|regulation of cholesterol metabolic process|
|ubiquitin-dependent ERAD pathway|
|regulation of alcohol biosynthetic process|
|negative regulation of lipid metabolic process|
|regulation of fatty acid metabolic process|
|regulation of steroid biosynthetic process|
|ERAD pathway|
|negative regulation of small molecule metabolic process|
|regulation of steroid metabolic process|
|cholesterol metabolic process|
|secondary alcohol metabolic process|
|sterol metabolic process|
|regulation of cellular ketone metabolic process|
|regulation of lipid biosynthetic process|
|membrane raft|
|response to endoplasmic reticulum stress|
|steroid metabolic process|
|ubiquitin protein ligase binding|
|alcohol metabolic process|
|proteasome-mediated ubiquitin-dependent protein catabolic process|
|proteasomal protein catabolic process|
|regulation of lipid metabolic process|
|regulation of small molecule metabolic process|
|organic hydroxy compound metabolic process|
|ubiquitin-dependent protein catabolic process|
|modification-dependent protein catabolic process|
|modification-dependent macromolecule catabolic process|
|proteolysis involved in cellular protein catabolic process|
|protein-containing complex|
|cellular protein catabolic process|
|protein catabolic process|
|cellular macromolecule catabolic process|
|endoplasmic reticulum membrane|
|response to organonitrogen compound|
|endoplasmic reticulum|
|macromolecule catabolic process|
|organonitrogen compound catabolic process|
|response to nitrogen compound|
|lipid metabolic process|
|positive regulation of transcription by RNA polymerase II|
|proteolysis|
|transmembrane transport|
|negative regulation of cellular biosynthetic process|
|positive regulation of transcription, DNA-templated|
|negative regulation of biosynthetic process|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|cellular response to stress|
|positive regulation of RNA metabolic process|
|small molecule metabolic process|
|organic substance catabolic process|
|cellular catabolic process|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|positive regulation of cellular biosynthetic process|
|positive regulation of gene expression|
|positive regulation of biosynthetic 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:exp52|Ribavirin 10μM R01 exp52]]|-3.05|
|[[:results:exp407|Thapsigargin 0.005μM R07 exp407]]|-2.75|
|[[:results:exp191|Hypoxia 5%O2 R04 exp191]]|-1.74|
|[[:results:exp300|VE-822 0.04μM R06 exp300]]|2.37|
</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>**: 4546
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.89 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ERLIN2 Expression in NALM6 Cells: 5.89'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>