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Gene Information
Gene ID:1201
Symbol:CLN3
Full Name:ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)
Alias:BATTENIN|BTS|MGC102840
Organism:Homo sapiens (Human)
Chromosome:16
Genetic Location:16p12.1
Physical Location:28396100-28411123 on NC_000016.8, complement
Gene Type:protein-coding
Orthologs:This gene has no orthologs in other dataset(s).
Gene in Ethanol Study Datasets
Gene Information
Original ID1:CLN3
Dataset Information
Name:Literature Search
Method:Literature search
Summary:We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive.
Gene Refseq Sequence Annotation
mRNAProteinReference assembly Genomic
NM_000086.2NP_000077.1NC_000016.8 range: 28396100..28411123, complement
NM_001042432.1NP_001035897.1NC_000016.8 range: 28396100..28411123, complement
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0000139Golgi membraneCellular ComponentIDA (9949212|10191111)
GO:0016021integral to membraneCellular ComponentIDA (10191112)
GO:0008021synaptic vesicleCellular ComponentIDA (10332042|11590129)
GO:0030176integral to endoplasmic reticulum membraneCellular ComponentIDA (12706816)
GO:0043005neuron projectionCellular ComponentIDA (10332042)
GO:0005901caveolaCellular ComponentIDA (15240864)
GO:0005886plasma membraneCellular ComponentIDA (10191116|15240864)
GO:0005802trans-Golgi networkCellular ComponentIDA (15240864)
GO:0005795Golgi stackCellular ComponentIDA (15240864)
GO:0005794Golgi apparatusCellular ComponentIDA (15240864)
GO:0005783endoplasmic reticulumCellular ComponentIDA (10191111)
GO:0005624membrane fractionCellular ComponentIDA (12134079)
GO:0005634nucleusCellular ComponentIDA (10191116)
GO:0016020membraneCellular ComponentIEA
GO:0005737cytoplasmCellular ComponentIDA (10191116)
GO:0005739mitochondrionCellular ComponentTAS (8980123)
GO:0005765lysosomal membraneCellular ComponentIEA
GO:0005769early endosomeCellular ComponentIDA (15240864)
GO:0051082unfolded protein bindingMolecular FunctionTAS (8980123)
GO:0043066negative regulation of apoptosisBiological ProcessIMP (15240864)
GO:0030163protein catabolic processBiological ProcessNAS (10740217)
GO:0016236macroautophagyBiological ProcessNAS (9949212)
GO:0042987amyloid precursor protein catabolic processBiological ProcessIDA (10924275)
GO:0015809arginine transportBiological ProcessIDA (16251196)
GO:0007042lysosomal lumen acidificationBiological ProcessIMP (11722572)
GO:0006898receptor-mediated endocytosisBiological ProcessIMP (15471887)
GO:0006684sphingomyelin metabolic processBiological ProcessIMP (15240864)
GO:0006681galactosylceramide metabolic processBiological ProcessIMP (15240864)
GO:0006678glucosylceramide metabolic processBiological ProcessIMP (15240864)
GO:0006457protein foldingBiological ProcessTAS (8980123)
GO:0001575globoside metabolic processBiological ProcessIMP (15240864)
GO:0051453regulation of intracellular pHBiological ProcessIDA (10924275)
Other Database Cross Links
NCBI Entrez Gene:1201
HGNC:2074
Ensembl:ENSG00000188603
MIM:607042
HPRD:08450
HuGE Navigator:1201
dbSNP:CLN3
GeneCard:CLN3
AceView:CLN3