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Aliases for CLN8 Gene

Aliases for CLN8 Gene

  • Ceroid-Lipofuscinosis, Neuronal 8 2 3 5
  • C8orf61 3 4
  • Ceroid-Lipofuscinosis, Neuronal 8 (Epilepsy, Progressive With Mental Retardation) 3
  • Epilepsy, Progressive With Mental Retardation 2
  • Chromosome 8 Open Reading Frame 61 2
  • EPMR 3

External Ids for CLN8 Gene

Previous HGNC Symbols for CLN8 Gene

  • EPMR
  • C8orf61

Previous GeneCards Identifiers for CLN8 Gene

  • GC08U990020
  • GC08P002420
  • GC08P001862
  • GC08P001526

Summaries for CLN8 Gene

Entrez Gene Summary for CLN8 Gene

  • 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]

GeneCards Summary for CLN8 Gene

CLN8 (Ceroid-Lipofuscinosis, Neuronal 8) is a Protein Coding gene. Diseases associated with CLN8 include ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant and ceroid lipofuscinosis, neuronal, 8. Among its related pathways are Synaptic vesicle cycle.

UniProtKB/Swiss-Prot for CLN8 Gene

  • Could play a role in cell proliferation during neuronal differentiation and in protection against cell death.

Gene Wiki entry for CLN8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLN8 Gene

Genomics for CLN8 Gene

Regulatory Elements for CLN8 Gene

Promoters for CLN8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CLN8 on UCSC Golden Path with GeneCards custom track

Genomic Location for CLN8 Gene

Chromosome:
8
Start:
1,755,778 bp from pter
End:
1,786,572 bp from pter
Size:
30,795 bases
Orientation:
Plus strand

Genomic View for CLN8 Gene

Genes around CLN8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLN8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLN8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLN8 Gene

Proteins for CLN8 Gene

  • Protein details for CLN8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBY8-CLN8_HUMAN
    Recommended name:
    Protein CLN8
    Protein Accession:
    Q9UBY8
    Secondary Accessions:
    • Q86U71
    • Q96I95

    Protein attributes for CLN8 Gene

    Size:
    286 amino acids
    Molecular mass:
    32787 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CLN8 Gene

Proteomics data for CLN8 Gene at MOPED

Post-translational modifications for CLN8 Gene

Other Protein References for CLN8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CLN8 Gene

Domains & Families for CLN8 Gene

Protein Domains for CLN8 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CLN8 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UBY8

UniProtKB/Swiss-Prot:

CLN8_HUMAN :
  • Contains 1 TLC (TRAM/LAG1/CLN8) domain.
Domain:
  • Contains 1 TLC (TRAM/LAG1/CLN8) domain.
genes like me logo Genes that share domains with CLN8: view

No data available for Gene Families for CLN8 Gene

Function for CLN8 Gene

Molecular function for CLN8 Gene

GENATLAS Biochemistry:
putative transmembrane protein homologous to mouse mnd
UniProtKB/Swiss-Prot Function:
Could play a role in cell proliferation during neuronal differentiation and in protection against cell death.
genes like me logo Genes that share phenotypes with CLN8: view

Human Phenotype Ontology for CLN8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for CLN8 Gene

miRTarBase miRNAs that target CLN8

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for CLN8 Gene

Localization for CLN8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLN8 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CLN8 Gene COMPARTMENTS Subcellular localization image for CLN8 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
lysosome 2
mitochondrion 2
vacuole 2

No data available for Gene Ontology (GO) - Cellular Components for CLN8 Gene

Pathways & Interactions for CLN8 Gene

SuperPathways for CLN8 Gene

Superpath Contained pathways
1 Synaptic vesicle cycle
genes like me logo Genes that share pathways with CLN8: view

Pathways by source for CLN8 Gene

1 BioSystems pathway for CLN8 Gene

Interacting Proteins for CLN8 Gene

Gene Ontology (GO) - Biological Process for CLN8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006644 phospholipid metabolic process IEA,IMP 16086686
GO:0006672 ceramide metabolic process IMP 16086686
GO:0007006 mitochondrial membrane organization IEA --
GO:0007399 nervous system development IMP 10508524
GO:0007601 visual perception IEA --
genes like me logo Genes that share ontologies with CLN8: view

No data available for SIGNOR curated interactions for CLN8 Gene

Drugs & Compounds for CLN8 Gene

(1) Additional Compounds for CLN8 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CLN8: view

Transcripts for CLN8 Gene

Unigene Clusters for CLN8 Gene

Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CLN8 Gene

No ASD Table

Relevant External Links for CLN8 Gene

GeneLoc Exon Structure for
CLN8
ECgene alternative splicing isoforms for
CLN8

Expression for CLN8 Gene

mRNA expression in normal human tissues for CLN8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CLN8 Gene

This gene is overexpressed in Testis (44.4), Spinal cord (9.9), and Placenta (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CLN8 Gene



SOURCE GeneReport for Unigene cluster for CLN8 Gene Hs.127675

genes like me logo Genes that share expression patterns with CLN8: view

Protein tissue co-expression partners for CLN8 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CLN8 Gene

Orthologs for CLN8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CLN8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CLN8 36
  • 99 (a)
OneToOne
CLN8 35
  • 99.18 (n)
  • 99.3 (a)
cow
(Bos Taurus)
Mammalia CLN8 36
  • 75 (a)
OneToOne
CLN8 35
  • 75.99 (n)
  • 76.25 (a)
dog
(Canis familiaris)
Mammalia CLN8 35
  • 86.38 (n)
  • 90.14 (a)
CLN8 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cln8 16
Cln8 36
  • 85 (a)
OneToOne
Cln8 35
  • 82.69 (n)
  • 85.96 (a)
oppossum
(Monodelphis domestica)
Mammalia CLN8 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cln8 35
  • 82.46 (n)
  • 86.32 (a)
chicken
(Gallus gallus)
Aves CLN8 35
  • 62.21 (n)
  • 55.63 (a)
CLN8 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CLN8 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cln8 35
  • 63.12 (n)
  • 59.22 (a)
zebrafish
(Danio rerio)
Actinopterygii cln8 36
  • 56 (a)
OneToOne
cln8 35
  • 65.04 (n)
  • 60.15 (a)
Species with no ortholog for CLN8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CLN8 Gene

ENSEMBL:
Gene Tree for CLN8 (if available)
TreeFam:
Gene Tree for CLN8 (if available)

Paralogs for CLN8 Gene

No data available for Paralogs for CLN8 Gene

Variants for CLN8 Gene

Sequence variations from dbSNP and Humsavar for CLN8 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
VAR_013174 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8NE)
VAR_013175 -
VAR_026554 Ceroid lipofuscinosis, neuronal, 8 (CLN8)
rs188259026 Ceroid lipofuscinosis, neuronal, 8 (CLN8) 1,771,563(+) GAGCA(C/T)GCCCT reference, missense
VAR_026556 Ceroid lipofuscinosis, neuronal, 8 (CLN8)

Structural Variations from Database of Genomic Variants (DGV) for CLN8 Gene

Variant ID Type Subtype PubMed ID
nsv889697 CNV Gain 21882294
dgv7588n71 CNV Gain 21882294
dgv7590n71 CNV Gain 21882294
nsv889712 CNV Gain 21882294
nsv465274 CNV Loss 19166990
dgv850n27 CNV Loss 19166990
nsv509244 CNV Insertion 20534489

Variation tolerance for CLN8 Gene

Residual Variation Intolerance Score: 77% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.94; 36.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CLN8 Gene

HapMap Linkage Disequilibrium report
CLN8
Human Gene Mutation Database (HGMD)
CLN8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLN8 Gene

Disorders for CLN8 Gene

MalaCards: The human disease database

(13) MalaCards diseases for CLN8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant
  • ceroid lipofuscinosis, neuronal, 8
ceroid lipofuscinosis, neuronal, 8
  • cln8
neuronal ceroid lipofuscinosis
  • hereditary ceroid lipofuscinosis
muscular dystrophy-dystroglycanopathy , type a, 9
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a9
neuronal ceroid-lipofuscinoses
  • ceroid lipofuscinosis, neuronal, 1
- elite association - COSMIC cancer census association via MalaCards
Search CLN8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CLN8_HUMAN
  • Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143]: A form of neuronal ceroid lipofuscinosis with onset in childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 8 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. {ECO:0000269 PubMed:15024724, ECO:0000269 PubMed:16570191, ECO:0000269 PubMed:19201763, ECO:0000269 PubMed:19431184, ECO:0000269 PubMed:19807737, ECO:0000269 PubMed:21990111, ECO:0000269 PubMed:26443629}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8NE) [MIM:610003]: A form of neuronal ceroid lipofuscinosis clinically characterized by epilepsy that presents between 5 and 10 years of age with frequent tonic-clonic seizures followed by progressive mental retardation. Visual loss is not a prominent feature. Intracellular accumulation of autofluorescent material results in curvilinear and granular profiles on ultrastructural analysis. {ECO:0000269 PubMed:10508524, ECO:0000269 PubMed:21990111}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CLN8

Genetic Association Database (GAD)
CLN8
Human Genome Epidemiology (HuGE) Navigator
CLN8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CLN8
genes like me logo Genes that share disorders with CLN8: view

No data available for Genatlas for CLN8 Gene

Publications for CLN8 Gene

  1. The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. (PMID: 10508524) Ranta S. … Lehesjoki A.-E. (Nat. Genet. 1999) 2 3 4 23 67
  2. Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. (PMID: 19201763) Kousi M. … Lehesjoki A.-E. (Brain 2009) 3 23
  3. A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function. (PMID: 19431184) Vantaggiato C. … Bassi M.T. (Hum. Mutat. 2009) 3 23
  4. Mass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain: a case study. (PMID: 16086686) Hermansson M. … Lahtinen U. (J. Neurochem. 2005) 3 23
  5. Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. (PMID: 15024724) Ranta S. … Lehesjoki A.-E. (Hum. Mutat. 2004) 3 23

Products for CLN8 Gene

Sources for CLN8 Gene

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