CLN8 [The Human Chemical-Genetic Interaction Map Project]

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======= CLN8 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: CLN8
  * **<color #00a2e8>Official Name</color>**: CLN8 transmembrane ER and ERGIC protein
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2055|2055]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9UBY8|Q9UBY8]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CLN8&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CLN8|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607837|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2017]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Could play a role in cell proliferation during neuronal differentiation and in protection against cell death. {ECO:0000269|PubMed:19431184}.

<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'>
|TRAM LAG1 CLN8|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|age-dependent response to oxidative stress|
|age-dependent general metabolic decline|
|amino acid neurotransmitter reuptake|
|glutamate reuptake|
|somatic motor neuron differentiation|
|L-glutamate import across plasma membrane|
|neurofilament cytoskeleton organization|
|L-glutamate import|
|neurotransmitter reuptake|
|amino acid import across plasma membrane|
|neuromuscular process controlling posture|
|L-glutamate transmembrane transport|
|amino acid import|
|adult walking behavior|
|neurotransmitter uptake|
|walking behavior|
|spinal cord motor neuron differentiation|
|photoreceptor cell maintenance|
|musculoskeletal movement|
|multicellular organismal movement|
|L-alpha-amino acid transmembrane transport|
|acidic amino acid transport|
|ceramide biosynthetic process|
|ventral spinal cord development|
|intermediate filament cytoskeleton organization|
|intermediate filament-based process|
|intraspecies interaction between organisms|
|social behavior|
|neuromuscular process controlling balance|
|cell differentiation in spinal cord|
|lytic vacuole organization|
|lysosome organization|
|L-amino acid transport|
|multi-organism behavior|
|endoplasmic reticulum-Golgi intermediate compartment membrane|
|drug transmembrane transport|
|retina homeostasis|
|endoplasmic reticulum-Golgi intermediate compartment|
|adult locomotory behavior|
|amino acid transmembrane transport|
|associative learning|
|dicarboxylic acid transport|
|ceramide metabolic process|
|sphingolipid biosynthetic process|
|presynapse|
|import across plasma membrane|
|spinal cord development|
|neuromuscular process|
|cholesterol metabolic process|
|amino acid transport|
|organic acid transmembrane transport|
|carboxylic acid transmembrane transport|
|mitochondrial membrane organization|
|secondary alcohol metabolic process|
|vacuole organization|
|membrane lipid biosynthetic process|
|sterol metabolic process|
|retina development in camera-type eye|
|adult behavior|
|learning|
|drug transport|
|sphingolipid metabolic process|
|neurotransmitter transport|
|central nervous system neuron differentiation|
|regulation of cell size|
|tissue homeostasis|
|locomotory behavior|
|membrane lipid metabolic process|
|visual perception|
|sensory perception of light stimulus|
|learning or memory|
|steroid metabolic process|
|anion transmembrane transport|
|aging|
|organic acid transport|
|carboxylic acid transport|
|lipid transport|
|cognition|
|camera-type eye development|
|alcohol metabolic process|
|lipid localization|
|multicellular organismal homeostasis|
|anatomical structure homeostasis|
|regulation of neurotransmitter levels|
|negative regulation of proteolysis|
|eye development|
|visual system development|
|sensory system development|
|phospholipid metabolic process|
|regulation of cellular component size|
|response to oxidative stress|
|mitochondrion organization|
|organic hydroxy compound metabolic process|
|organic anion transport|
|regulation of anatomical structure size|
|amide biosynthetic process|
|sensory organ development|
|behavior|
|lipid biosynthetic process|
|anion transport|
|cellular protein catabolic process|
|import into cell|
|protein catabolic process|
|regulation of proteolysis|
|cellular amide metabolic process|
|membrane organization|
|organophosphate metabolic process|
|negative regulation of apoptotic process|
|negative regulation of programmed cell death|
|cellular macromolecule catabolic process|
|endoplasmic reticulum membrane|
|ion transmembrane transport|
|cellular lipid metabolic process|
|sensory perception|
|central nervous system development|
|negative regulation of cell death|
|neuron differentiation|
|endoplasmic reticulum|
|response to drug|
|negative regulation of cellular protein metabolic process|
|macromolecule catabolic process|
|organonitrogen compound catabolic process|
|negative regulation of protein metabolic process|
|cytoskeleton organization|
|lipid metabolic process|
|mitochondrion|
|transmembrane transport|
|ion transport|
|nervous system process|
|organonitrogen compound biosynthetic process|
|generation of neurons|
|regulation of apoptotic process|
|regulation of programmed cell death|
|neurogenesis|
|cellular nitrogen compound biosynthetic process|
|homeostatic process|
|regulation of cell death|
|small molecule metabolic process|
|organic substance catabolic process|
|cellular catabolic process|
|establishment of localization in cell|
|nitrogen compound transport|
|system process|
</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:exp28|Pimelic-diphenylamide-106 5μM R00 exp28]]|-2.74|
|[[:results:exp454|Bafilomycin-A1 0.009μM R08 exp454]]|-2.07|
|[[:results:exp155|UNC1999 2μM R03 exp155]]|-1.84|
|[[:results:exp294|Nutlin-3A 1.6μM R06 exp294]]|1.76|
|[[:results:exp41|BI-2536 0.001μM R01 exp41]]|1.78|
|[[:results:exp374|Latrunculin-B 10μM R07 exp374]]|1.84|
|[[:results:exp36|TRAIL 50ng/ml R00 exp36]]|1.93|
|[[:results:exp242|Radicicol 0.16μM R05 exp242]]|2.27|
|[[:results:exp246|UM0011500 10μM R05 exp246]]|3.81|
|[[:results:exp222|Betulinic acid 10 to 15μM on day4 R05 exp222]]|4.16|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:p:prim1|PRIM1]]|0.431|
|[[:human genes:m:mfsd8|MFSD8]]|0.427|
</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>**: 12251
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.33 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='CLN8 Expression in NALM6 Cells: 5.33'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>