Homo sapiens Gene: CLN8
Summary
InnateDB Gene IDBG-5421.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CLN8
Gene Name ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
Synonyms C8orf61; EPMR;
Species Homo sapiens
Ensembl Gene ENSG00000182372
Encoded Proteins
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:1755778-1786572
Strand Forward strand
Band p23.3
Transcripts
ENST00000331222 ENSP00000328182
ENST00000524258
ENST00000518780
ENST00000517514
ENST00000520991
ENST00000519254
ENST00000523237
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 31 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 31 [view]
Protein-Protein 31 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0001306 age-dependent response to oxidative stress
GO:0006644 phospholipid metabolic process
GO:0006672 ceramide metabolic process
GO:0006869 lipid transport
GO:0007006 mitochondrial membrane organization
GO:0007040 lysosome organization
GO:0007399 nervous system development
GO:0007601 visual perception
GO:0007628 adult walking behavior
GO:0008203 cholesterol metabolic process
GO:0008219 cell death
GO:0008306 associative learning
GO:0008344 adult locomotory behavior
GO:0008361 regulation of cell size
GO:0008610 lipid biosynthetic process
GO:0021522 spinal cord motor neuron differentiation
GO:0021523 somatic motor neuron differentiation
GO:0030163 protein catabolic process
GO:0035176 social behavior
GO:0043066 negative regulation of apoptotic process
GO:0044257 cellular protein catabolic process
GO:0044265 cellular macromolecule catabolic process
GO:0044267 cellular protein metabolic process
GO:0045494 photoreceptor cell maintenance
GO:0045861 negative regulation of proteolysis
GO:0046513 ceramide biosynthetic process
GO:0050881 musculoskeletal movement
GO:0050884 neuromuscular process controlling posture
GO:0050885 neuromuscular process controlling balance
GO:0051348 negative regulation of transferase activity
GO:0051935 L-glutamate uptake involved in synaptic transmission
GO:0060041 retina development in camera-type eye
GO:0060052 neurofilament cytoskeleton organization
Cellular Component
GO:0005739 mitochondrion
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment
GO:0016021 integral component of membrane
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Cross-References
SwissProt Q9UBY8
TrEMBL A0A024QZ57
UniProt Splice Variant
Entrez Gene 2055
UniGene Hs.127675
RefSeq NM_018941 XM_005266021 XM_005266022 XM_005266023 XM_005266024 XM_005266025 XM_005266026 XM_005266027 XM_006725753 XM_006725755 XM_006725756 XM_006725757 XM_006725758 XM_006725759
HUGO HGNC:2079
OMIM 607837
CCDS CCDS5956
HPRD
IMGT
EMBL AF123757 AF123758 AF123759 AF123760 AF123761 BC007725 BT007049 CH471181
GenPept AAF13115 AAF13116 AAF13117 AAF13118 AAF13119 AAH07725 AAP35698 EAW51477 EAW51478 EAW51479
RNA Seq Atlas 2055