AutismKB 2.0

Annotation Details for CLN8


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Basic Information Top
Gene Symbol:CLN8 ( C8orf61,EPMR,FLJ39417 )
Gene Full Name: ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
Band: 8p23.3
Quick LinksEntrez ID:2055; OMIM: 607837; Uniprot ID:CLN8_HUMAN; ENSEMBL ID: ENSG00000182372; HGNC ID: 2079
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005783IDA-endoplasmic reticulum10861296
GO:0005789IEA-endoplasmic reticulum membrane-
GO:0005793IDA-endoplasmic reticulum-Golgi intermediate compartment10861296
GO:0016021NAS-integral component of membrane10508524
GO:0033116IEA-endoplasmic reticulum-Golgi intermediate compartment membrane-
No data
GO ID Evidence Qualifier GO_term References
GO:0006644IMP-phospholipid metabolic process16086686
GO:0006672IMP-ceramide metabolic process16086686
GO:0006869NAS-lipid transport12151215
GO:0007399IMP-nervous system development10508524
GO:0008203IMP-cholesterol metabolic process16086686
GO:0008610NAS-lipid biosynthetic process12151215
GO:0030163NAS-protein catabolic process10740217
GO:0045861NAS-negative regulation of proteolysis12151215
GO:0046513NAS-ceramide biosynthetic process12151215
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1349447
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-060906-3'