Gene Page: CLN3

Summary
GeneID  1201
Symbol  CLN3
Synonyms  BATTENIN|BTS|JNCL|MGC102840
Description  ceroid-lipofuscinosis, neuronal 3
See related  HGNC:2074|MIM:607042|Ensembl:ENSG00000188603|HPRD:08450|
Locus tag  -
Gene type  protein-coding
Map location  16p12.1
 
Gene in Data Sources
Gene set name Method of gene set Evidence Info
GSMA_IIEgenome scan meta-analysis (European-ancestry samples)Psr: 0.01775 
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 5 
 
General Gene Expression (microarray) ?
 
Gene Expression in Brain Regions (new)
 
Top co-expressed genes in Brain Regions (new)
GenePearson's Correlation Spearman's Correlation
Top 10 positively co-expressed genes
Top 10 negatively co-expressed genes
Gene Ontology
Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0048306calcium-dependent protein bindingIEA-
GO:0051082unfolded protein bindingTAS8980123 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0042133neurotransmitter metabolic processIEAneuron, axon, Synap, Neurotransmitter (GO term level: 8)-
GO:0043524negative regulation of neuron apoptosisIEAneuron (GO term level: 9)-
GO:0035235ionotropic glutamate receptor signaling pathwayIEAglutamate (GO term level: 8)-
GO:0000046autophagic vacuole fusionIEA-
GO:0001575globoside metabolic processIMP15240864 
GO:0001508regulation of action potentialIEA-
GO:0042987amyloid precursor protein catabolic processIDA10924275 
GO:0006457protein foldingTAS8980123 
GO:0016044membrane organizationIEA-
GO:0006520amino acid metabolic processIEA-
GO:0007042lysosomal lumen acidificationIMP11722572 
GO:0008306associative learningIEA-
GO:0015809arginine transportIDA16251196 
GO:0006684sphingomyelin metabolic processIMP15240864 
GO:0006681galactosylceramide metabolic processIMP15240864 
GO:0006678glucosylceramide metabolic processIMP15240864 
GO:0006898receptor-mediated endocytosisIMP15471887 
GO:0006865amino acid transportIEA-
GO:0016242negative regulation of macroautophagyIEA-
GO:0016485protein processingIEA-
GO:0050885neuromuscular process controlling balanceIEA-
GO:0030163protein catabolic processNAS10740217 
GO:0045861negative regulation of proteolysisIEA-
GO:0051453regulation of intracellular pHIDA10924275 
GO:0051480cytosolic calcium ion homeostasisIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0008021synaptic vesicleIDASynap, Neurotransmitter (GO term level: 12)10332042 |11590129 
GO:0043005neuron projectionIDAneuron, axon, neurite, dendrite (GO term level: 5)10332042 
GO:0000139Golgi membraneIDA9949212 |10191111 
GO:0005794Golgi apparatusIDA15240864 
GO:0005795Golgi stackIDA15240864 
GO:0005802trans-Golgi networkIDA15240864 
GO:0005624membrane fractionIDA12134079 
GO:0005634nucleusIDA10191116 
GO:0005737cytoplasmIDA10191116 
GO:0005739mitochondrionTAS8980123 
GO:0005765lysosomal membraneIEA-
GO:0005769early endosomeIDA15240864 
GO:0005770late endosomeIEA-
GO:0005776autophagic vacuoleIEA-
GO:0005783endoplasmic reticulumIDA10191111 
GO:0016020membraneIEA-
GO:0016021integral to membraneIDA10191112 
GO:0005901caveolaIDA15240864 
GO:0005886plasma membraneIDA10191116 |15240864 
GO:0030176integral to endoplasmic reticulum membraneIDA12706816 
GO:0044433cytoplasmic vesicle partIEA-
 
Pathway annotation
Pathway namePathway size# SZGR genes in pathwayInfo
KEGG_LYSOSOME 12183All SZGR genes in this pathway
PRAMOONJAGO_SOX4_TARGETS_DN 5135All SZGR genes in this pathway
CHARAFE_BREAST_CANCER_LUMINAL_VS_MESENCHYMAL_UP 450256All SZGR genes in this pathway
MULLIGHAN_MLL_SIGNATURE_1_UP 380236All SZGR genes in this pathway
MULLIGHAN_MLL_SIGNATURE_2_UP 418263All SZGR genes in this pathway
LINDGREN_BLADDER_CANCER_CLUSTER_1_DN 378231All SZGR genes in this pathway
FARMER_BREAST_CANCER_APOCRINE_VS_BASAL 330217All SZGR genes in this pathway
PATIL_LIVER_CANCER 747453All SZGR genes in this pathway
BALLIF_DEVELOPMENTAL_DISABILITY_P16_P12_DELETION 138All SZGR genes in this pathway
WEI_MYCN_TARGETS_WITH_E_BOX 795478All SZGR genes in this pathway
RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_MODERATELY_UP 10969All SZGR genes in this pathway
BENPORATH_NANOG_TARGETS 988594All SZGR genes in this pathway
BENPORATH_SOX2_TARGETS 734436All SZGR genes in this pathway
BENPORATH_MYC_MAX_TARGETS 775494All SZGR genes in this pathway
PENG_GLUTAMINE_DEPRIVATION_UP 3825All SZGR genes in this pathway
NEMETH_INFLAMMATORY_RESPONSE_LPS_UP 8864All SZGR genes in this pathway
BROWNE_HCMV_INFECTION_48HR_UP 180125All SZGR genes in this pathway
ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_UP 863514All SZGR genes in this pathway
HUANG_DASATINIB_RESISTANCE_DN 6944All SZGR genes in this pathway
MOOTHA_HUMAN_MITODB_6_2002 429260All SZGR genes in this pathway
MOOTHA_MITOCHONDRIA 447277All SZGR genes in this pathway
DANG_BOUND_BY_MYC 1103714All SZGR genes in this pathway
PILON_KLF1_TARGETS_DN 19721213All SZGR genes in this pathway
BRUINS_UVC_RESPONSE_LATE 1137655All SZGR genes in this pathway
LEE_BMP2_TARGETS_UP 745475All SZGR genes in this pathway
KOHOUTEK_CCNT1_TARGETS 5026All SZGR genes in this pathway
WAKABAYASHI_ADIPOGENESIS_PPARG_RXRA_BOUND_8D 882506All SZGR genes in this pathway
FORTSCHEGGER_PHF8_TARGETS_UP 279155All SZGR genes in this pathway
ZWANG_EGF_INTERVAL_DN 214124All SZGR genes in this pathway


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