Version 5.4
Mus musculus Gene: Cln8
Summary
InnateDB Gene IDBG-136384.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Cln8
Gene Name ceroid-lipofuscinosis, neuronal 8
Synonyms mnd
Species Mus musculus
Ensembl Gene ENSMUSG00000026317
Encoded Proteins
IDBP-136386
ceroid-lipofuscinosis, neuronal 8
IDBP-542543
ceroid-lipofuscinosis, neuronal 8
IDBP-542546
ceroid-lipofuscinosis, neuronal 8
IDBP-542539
ceroid-lipofuscinosis, neuronal 8
IDBP-542816
ceroid-lipofuscinosis, neuronal 8
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000182372:
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 8:14881335-14901720
Strand Forward strand
Band A1.1
Transcripts
ENSMUST00000027554 ENSMUSP00000027554
ENSMUST00000132001 ENSMUSP00000116550
ENSMUST00000123990 ENSMUSP00000119031
ENSMUST00000133578 ENSMUSP00000122765
ENSMUST00000128839 ENSMUSP00000121618
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 28 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 0
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 28 [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: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:0021522 spinal cord motor neuron differentiation
GO:0021523 somatic motor neuron differentiation
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: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
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000182372
View Gene Order
ENSBTAG00000008584
Not yet available
Cross-References
SwissProt Q9QUK3
TrEMBL D3Z2H1 D3Z332 D3Z3T9 Q542J5
UniProt Splice Variant
Entrez Gene 26889
UniGene Mm.254027 Mm.467756
RefSeq NM_012000 XM_006508806 XM_006508807
OMIM
CCDS CCDS40239
HPRD
IMGT
MGI ID MGI:1349447
MGI Symbol Cln8
EMBL AC108844 AF125307 AF125308 AK049145 AK088300 AK089692 AK164268 AK166905 AK169698 AK171446 BC021625 CH466566
GenPept AAF04461 AAF04462 AAH21625 BAC33570 BAC40269 BAC40944 BAE37712 BAE39107 BAE41313 BAE42456 EDL22189 EDL22190 EDL22191 EDL22192
RNA Seq Atlas 26889

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca