Name | ceroid-lipofuscinosis, neuronal 3 |
Description | This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] |
Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n CLN3 is a highly conserved multipass transmembrane protein that predominantly localizes to the lysosomal and endosomal compartments and is essential for maintaining proper lysosomal function and intracellular membrane trafficking."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Studies in various models have shown that CLN3 regulates lysosomal pH and maturation and facilitates lysosomal enzyme delivery by modulating the trafficking of membrane proteins. In particular, CLN3 plays a role in the transport of basic amino acids such as arginine into lysosomes, ensuring appropriate lysosomal content and homeostasis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n The protein contains distinct lysosomal targeting signals – notably, a dileucine motif in a cytosolic loop and an unconventional motif in its C-terminal tail – that are critical for its proper sorting to lysosomes and, in neuronal cells, also to recycling endosomes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Disruption of these signals results in aberrant trafficking, as CLN3 mislocalization compromises endocytic pathways and the function of membrane‐associated processes. Moreover, CLN3 has been shown to interact with several trafficking regulators including the microtubule‐binding protein Hook1 and Rab GTPases (Rab7, Rab9, and Rab11), thereby linking it to receptor-mediated endocytosis and microdomain transport."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In human disease, mutations in CLN3 are the primary cause of juvenile neuronal ceroid lipofuscinosis (Batten disease), a neurodegenerative lysosomal storage disorder. Loss or alteration of CLN3 function leads to the accumulation of undigested storage material (including mitochondrial ATPase subunit c), defective autophagic vacuolar maturation, and abnormal trafficking, which together contribute to neuronal degeneration in key regions such as the retina, cortex, cerebellum, and thalamus."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "9", "end_ref": "12"}]}, {"type": "t", "text": " Furthermore, even residual mutant CLN3 protein appears to exert partial function—as demonstrated by studies showing that incomplete loss of CLN3 activity may modulate lysosomal size, autophagic flux, and cell survival."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "13"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Together, these findings indicate that CLN3 is a multifunctional protein critical for proper lysosomal homeostasis, endosomal membrane trafficking, and the regulation of intracellular transport processes. Disruption of these functions leads to the lysosomal and neurodegenerative abnormalities observed in Batten disease, establishing CLN3 as a key regulator of neuronal cell viability.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Yi Cao, Janice A Espinola, Elisa Fossale, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M602180200"}], "href": "https://doi.org/10.1074/jbc.M602180200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16714284"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16714284"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Seasson N Phillips, Jared W Benedict, Jill M Weimer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CLN3, the protein associated with batten disease: structure, function and localization."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci Res (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/jnr.20367"}], "href": "https://doi.org/10.1002/jnr.20367"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15657902"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15657902"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Yoojin Kim, Denia Ramirez-Montealegre, David A Pearce "}, {"type": "b", "children": [{"type": "t", "text": "A role in vacuolar arginine transport for yeast Btn1p and for human CLN3, the protein defective in Batten disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.2136651100"}], "href": "https://doi.org/10.1073/pnas.2136651100"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14660799"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14660799"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Denia Ramirez-Montealegre, David A Pearce "}, {"type": "b", "children": [{"type": "t", "text": "Defective lysosomal arginine transport in juvenile Batten disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddi406"}], "href": "https://doi.org/10.1093/hmg/ddi406"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16251196"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16251196"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Aija Kyttälä, Gudrun Ihrke, Jouni Vesa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Cell (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1091/mbc.e03-02-0120"}], "href": "https://doi.org/10.1091/mbc.e03-02-0120"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14699076"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14699076"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Aija Kyttälä, Kristiina Yliannala, Peter Schu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "AP-1 and AP-3 facilitate lysosomal targeting of Batten disease protein CLN3 via its dileucine motif."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M411862200"}], "href": "https://doi.org/10.1074/jbc.M411862200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15598649"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15598649"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Kaisu Luiro, Kristiina Yliannala, Laura Ahtiainen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddh321"}], "href": "https://doi.org/10.1093/hmg/ddh321"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15471887"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15471887"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Luis Tecedor, Colleen S Stein, Mark L Schultz, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CLN3 loss disturbs membrane microdomain properties and protein transport in brain endothelial cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1523/JNEUROSCI.0498-13.2013"}], "href": "https://doi.org/10.1523/JNEUROSCI.0498-13.2013"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24227717"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24227717"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Susan L Cotman, Vladimir Vrbanac, Lori-Anne Lebel, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/11.22.2709"}], "href": "https://doi.org/10.1093/hmg/11.22.2709"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12374761"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12374761"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Charlie C Pontikis, Claire V Cella, Nisha Parihar, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Late onset neurodegeneration in the Cln3-/- mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain Res (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.brainres.2004.07.030"}], "href": "https://doi.org/10.1016/j.brainres.2004.07.030"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15374749"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15374749"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Cristy A Ku, Sarah Hull, Gavin Arno, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "JAMA Ophthalmol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1001/jamaophthalmol.2017.1401"}], "href": "https://doi.org/10.1001/jamaophthalmol.2017.1401"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28542676"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28542676"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Jill M Weimer, Jared W Benedict, Amanda L Getty, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cerebellar defects in a mouse model of juvenile neuronal ceroid lipofuscinosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain Res (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.brainres.2009.02.009"}], "href": "https://doi.org/10.1016/j.brainres.2009.02.009"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19230832"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19230832"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Dixie-Ann N W Persaud-Sawin, Antonius VanDongen, Rose-Mary N Boustany "}, {"type": "b", "children": [{"type": "t", "text": "Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/11.18.2129"}], "href": "https://doi.org/10.1093/hmg/11.18.2129"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12189165"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12189165"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Charlie C Pontikis, Susan L Cotman, Marcy E MacDonald, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Thalamocortical neuron loss and localized astrocytosis in the Cln3Deltaex7/8 knock-in mouse model of Batten disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurobiol Dis (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.nbd.2005.05.018"}], "href": "https://doi.org/10.1016/j.nbd.2005.05.018"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16006136"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16006136"}]}]}]}
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Synonyms | BTS, JNCL |
Proteins | CLN3_HUMAN |
NCBI Gene ID | 1201 |
API | |
Download Associations | |
Predicted Functions |
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Co-expressed Genes |
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Expression in Tissues and Cell Lines |
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CLN3 has 7,267 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 117 datasets.
Click the + buttons to view associations for CLN3 from the datasets below.
If available, associations are ranked by standardized value
Dataset | Summary | |
---|---|---|
Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of CLN3 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. | |
Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles | tissues with high or low expression of CLN3 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. | |
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq | tissue samples with high or low expression of CLN3 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset. | |
Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of CLN3 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
BioGPS Cell Line Gene Expression Profiles | cell lines with high or low expression of CLN3 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset. | |
BioGPS Human Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of CLN3 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset. | |
BioGPS Mouse Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of CLN3 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset. | |
CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of CLN3 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
CCLE Cell Line Gene Expression Profiles | cell lines with high or low expression of CLN3 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
CCLE Cell Line Proteomics | Cell lines associated with CLN3 protein from the CCLE Cell Line Proteomics dataset. | |
CellMarker Gene-Cell Type Associations | cell types associated with CLN3 gene from the CellMarker Gene-Cell Type Associations dataset. | |
ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of CLN3 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
ChEA Transcription Factor Targets | transcription factors binding the promoter of CLN3 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of CLN3 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
ClinVar Gene-Phenotype Associations | phenotypes associated with CLN3 gene from the curated ClinVar Gene-Phenotype Associations dataset. | |
CMAP Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of CLN3 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing CLN3 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing CLN3 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with CLN3 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with CLN3 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
COSMIC Cell Line Gene CNV Profiles | cell lines with high or low copy number of CLN3 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
COSMIC Cell Line Gene Mutation Profiles | cell lines with CLN3 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset. | |
CTD Gene-Chemical Interactions | chemicals interacting with CLN3 gene/protein from the curated CTD Gene-Chemical Interactions dataset. | |
CTD Gene-Disease Associations | diseases associated with CLN3 gene/protein from the curated CTD Gene-Disease Associations dataset. | |
DeepCoverMOA Drug Mechanisms of Action | small molecule perturbations with high or low expression of CLN3 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset. | |
DepMap CRISPR Gene Dependency | cell lines with fitness changed by CLN3 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
DISEASES Curated Gene-Disease Association Evidence Scores | diseases involving CLN3 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. | |
DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving CLN3 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
DISEASES Experimental Gene-Disease Association Evidence Scores | diseases associated with CLN3 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. | |
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with CLN3 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. | |
DISEASES Text-mining Gene-Disease Association Evidence Scores | diseases co-occuring with CLN3 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. | |
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with CLN3 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
DisGeNET Gene-Disease Associations | diseases associated with CLN3 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
DisGeNET Gene-Phenotype Associations | phenotypes associated with CLN3 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at CLN3 gene from the ENCODE Histone Modification Site Profiles dataset. | |
ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of CLN3 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
ENCODE Transcription Factor Targets | transcription factors binding the promoter of CLN3 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
ESCAPE Omics Signatures of Genes and Proteins for Stem Cells | PubMedIDs of publications reporting gene signatures containing CLN3 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
GAD Gene-Disease Associations | diseases associated with CLN3 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. | |
GAD High Level Gene-Disease Associations | diseases associated with CLN3 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset. | |
GDSC Cell Line Gene Expression Profiles | cell lines with high or low expression of CLN3 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset. | |
GeneRIF Biological Term Annotations | biological terms co-occuring with CLN3 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. | |
GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing CLN3 from the GeneSigDB Published Gene Signatures dataset. | |
GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of CLN3 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. | |
GEO Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of CLN3 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of CLN3 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of CLN3 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations | transcription factor perturbations changing expression of CLN3 gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Viral Infections | virus perturbations changing expression of CLN3 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
GlyGen Glycosylated Proteins | ligands (chemical) binding CLN3 protein from the GlyGen Glycosylated Proteins dataset. | |
GO Biological Process Annotations 2015 | biological processes involving CLN3 gene from the curated GO Biological Process Annotations 2015 dataset. | |
GO Biological Process Annotations 2023 | biological processes involving CLN3 gene from the curated GO Biological Process Annotations 2023 dataset. | |
GO Biological Process Annotations 2025 | biological processes involving CLN3 gene from the curated GO Biological Process Annotations2025 dataset. | |
GO Cellular Component Annotations 2015 | cellular components containing CLN3 protein from the curated GO Cellular Component Annotations 2015 dataset. | |
GO Cellular Component Annotations 2023 | cellular components containing CLN3 protein from the curated GO Cellular Component Annotations 2023 dataset. | |
GO Cellular Component Annotations 2025 | cellular components containing CLN3 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
GO Molecular Function Annotations 2015 | molecular functions performed by CLN3 gene from the curated GO Molecular Function Annotations 2015 dataset. | |
GO Molecular Function Annotations 2023 | molecular functions performed by CLN3 gene from the curated GO Molecular Function Annotations 2023 dataset. | |
GO Molecular Function Annotations 2025 | molecular functions performed by CLN3 gene from the curated GO Molecular Function Annotations 2025 dataset. | |
GTEx Tissue Gene Expression Profiles | tissues with high or low expression of CLN3 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of CLN3 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
GTEx Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of CLN3 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
GTEx Tissue-Specific Aging Signatures | tissue samples with high or low expression of CLN3 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
GWAS Catalog SNP-Phenotype Associations | phenotypes associated with CLN3 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. | |
GWASdb SNP-Disease Associations | diseases associated with CLN3 gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. | |
GWASdb SNP-Phenotype Associations | phenotypes associated with CLN3 gene in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. | |
Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles | cell lines with high or low expression of CLN3 gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset. | |
HPA Tissue Gene Expression Profiles | tissues with high or low expression of CLN3 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
HPA Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of CLN3 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
HPO Gene-Disease Associations | phenotypes associated with CLN3 gene by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. | |
Hub Proteins Protein-Protein Interactions | interacting hub proteins for CLN3 from the curated Hub Proteins Protein-Protein Interactions dataset. | |
HuGE Navigator Gene-Phenotype Associations | phenotypes associated with CLN3 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
InterPro Predicted Protein Domain Annotations | protein domains predicted for CLN3 protein from the InterPro Predicted Protein Domain Annotations dataset. | |
JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of CLN3 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
KEA Substrates of Kinases | kinases that phosphorylate CLN3 protein from the curated KEA Substrates of Kinases dataset. | |
Kinase Library Serine Threonine Kinome Atlas | kinases that phosphorylate CLN3 protein from the Kinase Library Serine Threonine Atlas dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of CLN3 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles | cell lines with high or low expression of CLN3 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles | cell lines with CLN3 gene mutations from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset. | |
KnockTF Gene Expression Profiles with Transcription Factor Perturbations | transcription factor perturbations changing expression of CLN3 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of CLN3 gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
LINCS L1000 CMAP CRISPR Knockout Consensus Signatures | gene perturbations changing expression of CLN3 gene from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset. | |
LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of CLN3 gene from the LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
LOCATE Curated Protein Localization Annotations | cellular components containing CLN3 protein in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset. | |
LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain CLN3 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by CLN3 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
MiRTarBase microRNA Targets | microRNAs targeting CLN3 gene in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset. | |
MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of CLN3 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
MPO Gene-Phenotype Associations | phenotypes of transgenic mice caused by CLN3 gene mutations from the MPO Gene-Phenotype Associations dataset. | |
MSigDB Cancer Gene Co-expression Modules | co-expressed genes for CLN3 from the MSigDB Cancer Gene Co-expression Modules dataset. | |
MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations | gene perturbations changing expression of CLN3 gene from the MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations dataset. | |
NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of CLN3 gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
OMIM Gene-Disease Associations | phenotypes associated with CLN3 gene from the curated OMIM Gene-Disease Associations dataset. | |
Pathway Commons Protein-Protein Interactions | interacting proteins for CLN3 from the Pathway Commons Protein-Protein Interactions dataset. | |
PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of CLN3 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations | gene perturbations changing expression of CLN3 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
PFOCR Pathway Figure Associations 2023 | pathways involving CLN3 protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
PFOCR Pathway Figure Associations 2024 | pathways involving CLN3 protein from the Wikipathways PFOCR 2024 dataset. | |
Reactome Pathways 2024 | pathways involving CLN3 protein from the Reactome Pathways 2024 dataset. | |
Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of CLN3 gene from the Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of CLN3 gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset. | |
Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of CLN3 gene from the Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
Roadmap Epigenomics Cell and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of CLN3 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue Gene Expression Profiles dataset. | |
Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at CLN3 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of CLN3 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of CLN3 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
SILAC Phosphoproteomics Signatures of Differentially Phosphorylated Proteins for Protein Ligands | ligand (protein) perturbations changing phosphorylation of CLN3 protein from the SILAC Phosphoproteomics Signatures of Differentially Phosphorylated Proteins for Protein Ligands dataset. | |
Tabula Sapiens Gene-Cell Associations | cell types with high or low expression of CLN3 gene relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset. | |
TargetScan Predicted Conserved microRNA Targets | microRNAs regulating expression of CLN3 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset. | |
TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of CLN3 gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset. | |
TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of CLN3 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
TISSUES Curated Tissue Protein Expression Evidence Scores | tissues with high expression of CLN3 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of CLN3 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
TISSUES Experimental Tissue Protein Expression Evidence Scores | tissues with high expression of CLN3 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of CLN3 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with CLN3 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with CLN3 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |