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Cln8 Gene Detail
Summary
  • Symbol
    Cln8
  • Name
    CLN8 transmembrane ER and ERGIC protein
  • Synonyms
    ceroid-lipofuscinosis, neuronal 8, Tlcd6
  • Feature Type
    protein coding gene
  • IDs
    MGI:1349447
    NCBI Gene: 26889
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:14931335-14951720 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • 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 Chr8:14931335-14951720 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CLN8, CLN8 transmembrane ER and ERGIC protein
  • Synonyms
    C8orf61, EPMR, TLCD6
  • Links
    NCBI Gene ID: 2055
    neXtProt AC: NX_Q9UBY8
    UniProt: Q9UBY8

  • Chr Location
    8p23.3; chr8:1753059-1801711 (+)  GRCh38
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
less
  • Phenotype Summary
    43 phenotypes from 2 alleles in 7 genetic backgrounds
    62 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
less
  • All GO Annotations
    52
  • GO References
    31
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
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
    788
  • Tissues
    60
  • cDNA Data
    20
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 26889 NCBI Gene Model | MGI Sequence Detail 20386 C57BL/6J ±  kb
    transcript NM_001425024 RefSeq | MGI Sequence Detail 6325 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 98
      Developmental Gene Expression 3
      Diseases 2
      Gene Ontology 31
      Phenotypes 62
    • 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:324593 Salpeter EM, et al., Retinal degeneration in mice and humans with neuronal ceroid lipofuscinosis type 8. Ann Transl Med. 2021 Aug;9(15):1274
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory