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Cln8 Gene Detail
Summary
  • Symbol
    Cln8
  • Name
    ceroid-lipofuscinosis, neuronal 8
  • Feature Type
    protein coding gene
  • IDs
    MGI:1349447
    NCBI Gene: 26889
  • Gene Overview
    MyGene.info: CLN8
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:14881335-14901720 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 7.59 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    153 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1349447
protein coding gene Chr8:14881335-14901720 (.)
129S1/SvImJ MGP_129S1SvImJ_G0033397
protein coding gene Chr8:12301019-12322811 (+)
A/J MGP_AJ_G0033378
protein coding gene Chr8:11865869-11895196 (+)
AKR/J MGP_AKRJ_G0033308
protein coding gene Chr8:12172615-12193095 (+)
BALB/cJ MGP_BALBcJ_G0033378
protein coding gene Chr8:11947041-11970835 (+)
C3H/HeJ MGP_C3HHeJ_G0033091
protein coding gene Chr8:12395149-12417038 (+)
C57BL/6NJ MGP_C57BL6NJ_G0033890
protein coding gene Chr8:12669208-12689581 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030856
protein coding gene Chr8:11288067-11295234 (+)
CAST/EiJ MGP_CASTEiJ_G0032413
protein coding gene Chr8:12206054-12227861 (+)
CBA/J MGP_CBAJ_G0033064
protein coding gene Chr8:13219601-13244210 (+)
DBA/2J MGP_DBA2J_G0033218
protein coding gene Chr8:11785658-11808238 (+)
FVB/NJ MGP_FVBNJ_G0033166
protein coding gene Chr8:11813110-11833627 (+)
LP/J MGP_LPJ_G0033311
protein coding gene Chr8:12275943-12296353 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033203
protein coding gene Chr8:13425435-13454047 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0033907
protein coding gene Chr8:12254956-12275547 (+)
PWK/PhJ MGP_PWKPhJ_G0032126
protein coding gene Chr8:11850543-11871274 (+)
SPRET/EiJ MGP_SPRETEiJ_G0031967
protein coding gene Chr8:12128016-12149682 (+)
WSB/EiJ MGP_WSBEiJ_G0032529
protein coding gene Chr8:12276684-12297041 (+)



Homology
more
  • Human Ortholog
    CLN8, CLN8, transmembrane ER and ERGIC protein
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CLN8, CLN8, transmembrane ER and ERGIC protein
    Orthology source: HGNC, HomoloGene
  • Synonyms
    C8orf61, EPMR
  • Links
    NCBI Gene ID: 2055
    neXtProt AC: NX_Q9UBY8
    UniProt: Q9UBY8

  • Chr Location
    8p23.3; chr8:1755778-1786570 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 10340
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: CLN8
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Cln8 mouse models; 2 with human CLN8 associations

Human Disease Mouse Models
      
IDs
View 4 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    29 phenotypes from 1 allele in 6 genetic backgrounds
    56 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous mutants exhibit late-onset progressive motor neuron degeneration and retinal photoreceptor degeneration. Mutants accumulate proteolipid in neuronal cytoplasm, have hindlimb weakness and ataxia, and die at 9-14 months of age.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 26889 NCBI Gene Model | MGI Sequence Detail 20386 C57BL/6J ±  kb
    transcript NM_012000 RefSeq | MGI Sequence Detail 6432 C57BL/6  
    polypeptide Q9QUK3 UniProt | EBI | MGI Sequence Detail 288 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 23
      cDNA 20
      Primer pair 2
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-12334, MGI:97038
    References
    more
    • Summaries
      All 89
      Developmental Gene Expression 3
      Diseases 2
      Gene Ontology 30
      Phenotypes 56
    • Earliest
      J:8492 Messer A, et al., Autosomal dominance in a late-onset motor neuron disease in the mouse. J Neurogenet. 1986 Nov;3(6):345-55
    • Latest
      J:202510 Palmer DN, et al., NCL disease mechanisms. Biochim Biophys Acta. 2013 Nov;1832(11):1882-93

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory