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

    Gene ID: 26889, updated on 3-Dec-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, Nov 2024]
    Expression
    Ubiquitous expression in placenta adult (RPKM 3.6), spleen adult (RPKM 3.5) and 28 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    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)
    • Endonuclease-mediated (2) 
    • Spontaneous (1)  1 citation

    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 ceramide binding ISS
    Inferred from Sequence or Structural Similarity
    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 ceramide metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cholesterol metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cholesterol metabolic process ISS
    Inferred from Sequence or Structural Similarity
    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
     
    involved_in nervous system development ISS
    Inferred from Sequence or Structural Similarity
    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
     
    involved_in phospholipid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum-Golgi intermediate compartment ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endoplasmic reticulum-Golgi intermediate compartment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endoplasmic reticulum-Golgi intermediate compartment membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in presynapse 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)

    NEW Try the new Transcript table

    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