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). |
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Gene in Ethanol Study Datasets |
Gene Information | | 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. |
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Gene Refseq Sequence Annotation |
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Gene Ontology (GO) Annotation |
GO ID | GO Term | Category | Evidence (PubMed) | |
GO:0000139 | Golgi membrane | Cellular Component | IDA (9949212|10191111) | |
GO:0016021 | integral to membrane | Cellular Component | IDA (10191112) | |
GO:0008021 | synaptic vesicle | Cellular Component | IDA (10332042|11590129) | |
GO:0030176 | integral to endoplasmic reticulum membrane | Cellular Component | IDA (12706816) | |
GO:0043005 | neuron projection | Cellular Component | IDA (10332042) | |
GO:0005901 | caveola | Cellular Component | IDA (15240864) | |
GO:0005886 | plasma membrane | Cellular Component | IDA (10191116|15240864) | |
GO:0005802 | trans-Golgi network | Cellular Component | IDA (15240864) | |
GO:0005795 | Golgi stack | Cellular Component | IDA (15240864) | |
GO:0005794 | Golgi apparatus | Cellular Component | IDA (15240864) | |
GO:0005783 | endoplasmic reticulum | Cellular Component | IDA (10191111) | |
GO:0005624 | membrane fraction | Cellular Component | IDA (12134079) | |
GO:0005634 | nucleus | Cellular Component | IDA (10191116) | |
GO:0016020 | membrane | Cellular Component | IEA | |
GO:0005737 | cytoplasm | Cellular Component | IDA (10191116) | |
GO:0005739 | mitochondrion | Cellular Component | TAS (8980123) | |
GO:0005765 | lysosomal membrane | Cellular Component | IEA | |
GO:0005769 | early endosome | Cellular Component | IDA (15240864) | |
GO:0051082 | unfolded protein binding | Molecular Function | TAS (8980123) | |
GO:0043066 | negative regulation of apoptosis | Biological Process | IMP (15240864) | |
GO:0030163 | protein catabolic process | Biological Process | NAS (10740217) | |
GO:0016236 | macroautophagy | Biological Process | NAS (9949212) | |
GO:0042987 | amyloid precursor protein catabolic process | Biological Process | IDA (10924275) | |
GO:0015809 | arginine transport | Biological Process | IDA (16251196) | |
GO:0007042 | lysosomal lumen acidification | Biological Process | IMP (11722572) | |
GO:0006898 | receptor-mediated endocytosis | Biological Process | IMP (15471887) | |
GO:0006684 | sphingomyelin metabolic process | Biological Process | IMP (15240864) | |
GO:0006681 | galactosylceramide metabolic process | Biological Process | IMP (15240864) | |
GO:0006678 | glucosylceramide metabolic process | Biological Process | IMP (15240864) | |
GO:0006457 | protein folding | Biological Process | TAS (8980123) | |
GO:0001575 | globoside metabolic process | Biological Process | IMP (15240864) | |
GO:0051453 | regulation of intracellular pH | Biological Process | IDA (10924275) | |
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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 |