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Cln8 CLN8 transmembrane ER and ERGIC protein [ Mus musculus (house mouse) ]

Gene ID: 26889, updated on 8-Feb-2024

Summary

Official Symbol
Cln8provided by MGI
Official Full Name
CLN8 transmembrane ER and ERGIC proteinprovided by MGI
Primary source
MGI:MGI:1349447
See related
Ensembl:ENSMUSG00000026317 AllianceGenome:MGI:1349447
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
mnd; Tlcd6
Summary
Predicted to enable ceramide binding activity. Acts upstream of or within several processes, including adult walking behavior; glutamate reuptake; and neurofilament cytoskeleton organization. Located in endoplasmic reticulum. Is expressed in several structures, including adrenal gland; gonad; hemolymphoid system gland; nervous system; and retina. Used to study neuronal ceroid lipofuscinosis 8. Human ortholog(s) of this gene implicated in neuronal ceroid lipofuscinosis 8 and neuronal ceroid lipofuscinosis 8 northern epilepsy variant. Orthologous to human CLN8 (CLN8 transmembrane ER and ERGIC protein). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in placenta adult (RPKM 3.6), spleen adult (RPKM 3.5) and 28 other tissues See more
Orthologs
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Genomic context

See Cln8 in Genome Data Viewer
Location:
8 A1.1; 8 7.59 cM
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (14931335..14951720)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (14881335..14901720)

Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene DLG associated protein 2 Neighboring gene STARR-seq mESC enhancer starr_20791 Neighboring gene STARR-positive B cell enhancer mm9_chr8:14306729-14307029 Neighboring gene predicted gene, 26184 Neighboring gene STARR-seq mESC enhancer starr_20792 Neighboring gene STARR-seq mESC enhancer starr_20793 Neighboring gene RIKEN cDNA C030037F17 gene Neighboring gene STARR-seq mESC enhancer starr_20794 Neighboring gene STARR-seq mESC enhancer starr_20795 Neighboring gene STARR-positive B cell enhancer ABC_E4989 Neighboring gene Rho guanine nucleotide exchange factor 10 Neighboring gene predicted gene, 35285 Neighboring gene predicted gene 16350

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Spontaneous (1)  1 citation
  • Endonuclease-mediated (2) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ceramide binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables ceramide binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within adult locomotory behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within adult walking behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within associative learning IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ceramide metabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in cholesterol metabolic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within glutamate reuptake IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in lipid homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within lysosome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within macromolecule catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within mitochondrial membrane organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within musculoskeletal movement IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of neuron apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of transferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in nervous system development ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within neurofilament cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within neuromuscular process controlling balance IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within neuromuscular process controlling posture IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of neuron apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in phospholipid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within phospholipid metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in phospholipid metabolic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within photoreceptor cell maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within protein metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of cell size IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within retina development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of retinal rod cell apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within social behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within somatic motor neuron differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within spinal cord motor neuron differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within visual perception IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
located_in endoplasmic reticulum-Golgi intermediate compartment ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein CLN8
Names
ceroid-lipofuscinosis, neuronal 8
motor neuron degeneration

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001425024.1NP_001411953.1  protein CLN8

    Status: VALIDATED

    Source sequence(s)
    AC108844
    UniProtKB/Swiss-Prot
    Q9QUK3
    UniProtKB/TrEMBL
    Q542J5, Q8BNW2
  2. NM_001425025.1NP_001411954.1  protein CLN8

    Status: VALIDATED

    Source sequence(s)
    AC108844
    UniProtKB/Swiss-Prot
    Q9QUK3
    UniProtKB/TrEMBL
    Q542J5, Q8BNW2
  3. NM_012000.4NP_036130.1  protein CLN8

    See identical proteins and their annotated locations for NP_036130.1

    Status: VALIDATED

    Source sequence(s)
    AC108844
    Consensus CDS
    CCDS40239.1
    UniProtKB/Swiss-Prot
    Q9QUK3
    UniProtKB/TrEMBL
    Q542J5, Q8BNW2
    Related
    ENSMUSP00000027554.8, ENSMUST00000027554.8
    Conserved Domains (1) summary
    smart00724
    Location:64262
    TLC; TRAM, LAG1 and CLN8 homology domains

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000074.7 Reference GRCm39 C57BL/6J

    Range
    14931335..14951720
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006508807.2XP_006508870.1  protein CLN8 isoform X1

    See identical proteins and their annotated locations for XP_006508870.1

    UniProtKB/Swiss-Prot
    Q9QUK3
    UniProtKB/TrEMBL
    Q542J5, Q8BNW2
    Conserved Domains (1) summary
    smart00724
    Location:64262
    TLC; TRAM, LAG1 and CLN8 homology domains