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Ask your administrator if you think this is wrong. ======= CLN6 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: CLN6 * **<color #00a2e8>Official Name</color>**: CLN6 transmembrane ER protein * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=54982|54982]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9NWW5|Q9NWW5]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CLN6&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CLN6|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606725|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]. * **<color #00a2e8>UniProt Summary</color>**: N/A <button type='default' 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'> No Pfam Domain information is available for this gene. </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |locomotion involved in locomotory behavior| |lysosomal lumen acidification| |regulation of lysosomal lumen pH| |ganglioside metabolic process| |vacuolar acidification| |intracellular pH reduction| |pH reduction| |lysosome organization| |lytic vacuole organization| |glycosphingolipid metabolic process| |ceramide metabolic process| |regulation of intracellular pH| |regulation of cellular pH| |regulation of pH| |glycolipid metabolic process| |cellular monovalent inorganic cation homeostasis| |liposaccharide metabolic process| |cholesterol metabolic process| |secondary alcohol metabolic process| |vacuole organization| |sterol metabolic process| |monovalent inorganic cation homeostasis| |sphingolipid metabolic process| |glycosaminoglycan metabolic process| |aminoglycan metabolic process| |locomotory behavior| |membrane lipid metabolic process| |visual perception| |sensory perception of light stimulus| |steroid metabolic process| |endoplasmic reticulum lumen| |alcohol metabolic process| |positive regulation of proteolysis| |organic hydroxy compound metabolic process| |behavior| |cellular cation homeostasis| |cellular ion homeostasis| |protein catabolic process| |cation homeostasis| |inorganic ion homeostasis| |regulation of proteolysis| |cellular chemical homeostasis| |cellular amide metabolic process| |ion homeostasis| |protein homodimerization activity| |cellular homeostasis| |cellular macromolecule catabolic process| |endoplasmic reticulum membrane| |cellular lipid metabolic process| |sensory perception| |endoplasmic reticulum| |carbohydrate derivative metabolic process| |macromolecule catabolic process| |organonitrogen compound catabolic process| |chemical homeostasis| |lipid metabolic process| |locomotion| |nervous system process| |positive regulation of cellular protein metabolic process| |homeostatic process| |positive regulation of protein metabolic process| |small molecule metabolic process| |organic substance catabolic process| |cellular catabolic process| |system process| |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:exp15|Cycloheximide 0.2μM R00 exp15]]|2.1| |[[:results:exp222|Betulinic acid 10 to 15μM on day4 R05 exp222]]|2.9| |[[:results:exp246|UM0011500 10μM R05 exp246]]|3.17| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> ^Gene^Correlation^ |[[:human genes:h:hgc6.3|HGC6.3]]|0.551| |[[:human genes:c:chd4|CHD4]]|0.531| |[[:human genes:t:tceb3c|TCEB3C]]|0.516| |[[:human genes:r:rpl6|RPL6]]|0.513| |[[:human genes:c:ccna2|CCNA2]]|0.502| |[[:human genes:o:orc1|ORC1]]|0.499| |[[:human genes:p:polr2j3|POLR2J3]]|0.49| |[[:human genes:o:orc6|ORC6]]|0.49| |[[:human genes:s:snrnp70|SNRNP70]]|0.489| |[[:human genes:d:dtl|DTL]]|0.486| |[[:human genes:p:polr1a|POLR1A]]|0.481| |[[:human genes:p:psmb2|PSMB2]]|0.477| |[[:human genes:t:tceb3cl|TCEB3CL]]|0.476| |[[:human genes:c:copb1|COPB1]]|0.475| |[[:human genes:a:aamp|AAMP]]|0.475| |[[:human genes:i:ik|IK]]|0.466| |[[:human genes:v:vasn|VASN]]|0.464| |[[:human genes:p:polr2a|POLR2A]]|0.463| |[[:human genes:s:snip1|SNIP1]]|0.457| |[[:human genes:r:rps19bp1|RPS19BP1]]|0.452| |[[:human genes:a:aqr|AQR]]|0.452| |[[:human genes:s:supt5h|SUPT5H]]|0.452| |[[:human genes:r:rpl35|RPL35]]|0.451| |[[:human genes:c:cdh24|CDH24]]|0.449| |[[:human genes:s:sf3a3|SF3A3]]|0.448| |[[:human genes:n:nol10|NOL10]]|0.445| |[[:human genes:c:cep192|CEP192]]|0.445| |[[:human genes:t:tceb3cl2|TCEB3CL2]]|0.445| |[[:human genes:t:tp53tg3d|TP53TG3D]]|0.445| |[[:human genes:n:nxf1|NXF1]]|0.445| |[[:human genes:p:psma6|PSMA6]]|0.444| |[[:human genes:r:rpl30|RPL30]]|0.444| |[[:human genes:r:rps12|RPS12]]|0.444| |[[:human genes:m:mms22l|MMS22L]]|0.444| |[[:human genes:t:timeless|TIMELESS]]|0.443| |[[:human genes:c:cactin|CACTIN]]|0.442| |[[:human genes:a:akirin2|AKIRIN2]]|0.442| |[[:human genes:p:psmc6|PSMC6]]|0.442| |[[:human genes:a:atp6v1b2|ATP6V1B2]]|0.442| |[[:human genes:c:crnkl1|CRNKL1]]|0.44| |[[:human genes:c:cdca3|CDCA3]]|0.44| |[[:human genes:m:mfsd12|MFSD12]]|0.44| |[[:human genes:t:tuba8|TUBA8]]|0.438| |[[:human genes:t:tbc1d3f|TBC1D3F]]|0.437| |[[:human genes:s:sh3bp1|SH3BP1]]|0.436| |[[:human genes:n:npipb5|NPIPB5]]|0.436| |[[:human genes:t:tbc1d3h|TBC1D3H]]|0.436| |[[:human genes:p:plekha4|PLEKHA4]]|0.436| |[[:human genes:m:madcam1|MADCAM1]]|0.435| |[[:human genes:r:rplp1|RPLP1]]|0.433| |[[:human genes:t:tbc1d3g|TBC1D3G]]|0.433| |[[:human genes:p:psmb4|PSMB4]]|0.432| |[[:human genes:s:snx15|SNX15]]|0.431| |[[:human genes:a:atp6v1c1|ATP6V1C1]]|0.431| |[[:human genes:s:sec13|SEC13]]|0.43| |[[:human genes:o:osbp|OSBP]]|0.43| |[[:human genes:r:rrp7a|RRP7A]]|0.429| |[[:human genes:t:ticrr|TICRR]]|0.429| |[[:human genes:d:dock6|DOCK6]]|0.428| |[[:human genes:g:golga6b|GOLGA6B]]|0.428| |[[:human genes:m:mylk3|MYLK3]]|0.427| |[[:human genes:l:lrr1|LRR1]]|0.427| |[[:human genes:s:slc4a1|SLC4A1]]|0.426| |[[:human genes:d:ddtl|DDTL]]|0.426| |[[:human genes:e:exosc9|EXOSC9]]|0.426| |[[:human genes:t:tfip11|TFIP11]]|0.424| |[[:human genes:p:plk1|PLK1]]|0.424| |[[:human genes:c:ccdc116|CCDC116]]|0.424| |[[:human genes:g:gpx4|GPX4]]|0.424| |[[:human genes:u:utp3|UTP3]]|0.423| |[[:human genes:x:xylt2|XYLT2]]|0.423| |[[:human genes:i:itga2b|ITGA2B]]|0.423| |[[:human genes:p:psmd14|PSMD14]]|0.422| |[[:human genes:c:cacna1a|CACNA1A]]|0.422| |[[:human genes:p:psmc5|PSMC5]]|0.421| |[[:human genes:p:prpf3|PRPF3]]|0.42| |[[:human genes:e:eif4a3|EIF4A3]]|0.42| |[[:human genes:p:paf1|PAF1]]|0.418| |[[:human genes:e:eif3g|EIF3G]]|0.418| |[[:human genes:c:c1qtnf9b|C1QTNF9B]]|0.417| |[[:human genes:s:skiv2l2|SKIV2L2]]|0.417| |[[:human genes:g:gramd1a|GRAMD1A]]|0.415| |[[:human genes:g:golga6l6|GOLGA6L6]]|0.415| |[[:human genes:h:hivep3|HIVEP3]]|0.414| |[[:human genes:c:copg1|COPG1]]|0.414| |[[:human genes:t:tbc1d3|TBC1D3]]|0.414| |[[:human genes:c:ccdc64b|CCDC64B]]|0.413| |[[:human genes:n:nup153|NUP153]]|0.413| |[[:human genes:c:copa|COPA]]|0.412| |[[:human genes:m:mt1e|MT1E]]|0.412| |[[:human genes:p:pan3|PAN3]]|0.412| |[[:human genes:r:rps2|RPS2]]|0.411| |[[:human genes:p:psmd3|PSMD3]]|0.411| |[[:human genes:p:polr2d|POLR2D]]|0.41| |[[:human genes:d:dnttip2|DNTTIP2]]|0.409| |[[:human genes:d:ddt|DDT]]|0.408| |[[:human genes:c:cope|COPE]]|0.408| |[[:human genes:t:tp53tg3b|TP53TG3B]]|0.405| |[[:human genes:s:slc6a17|SLC6A17]]|0.405| |[[:human genes:t:tp53tg3|TP53TG3]]|0.404| |[[:human genes:t:tp53tg3c|TP53TG3C]]|0.404| |[[:human genes:a:acsf2|ACSF2]]|0.404| |[[:human genes:c:col2a1|COL2A1]]|0.404| |[[:human genes:r:rpl14|RPL14]]|0.403| |[[:human genes:s:sap30bp|SAP30BP]]|0.403| |[[:human genes:a:aatf|AATF]]|0.403| |[[:human genes:g:golga6a|GOLGA6A]]|0.402| |[[:human genes:z:znf541|ZNF541]]|0.402| |[[:human genes:s:syt9|SYT9]]|0.401| |[[:human genes:s:supt6h|SUPT6H]]|0.401| |[[:human genes:n:nupl1|NUPL1]]|0.401| |[[:human genes:r:rpl7l1|RPL7L1]]|0.4| |[[:human genes:r:rps10|RPS10]]|0.4| |[[:human genes:s:smg7|SMG7]]|0.4| </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>**: 2170 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.74 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='CLN6 Expression in NALM6 Cells: 5.74'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2026/01/07 22:36by 127.0.0.1