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Aliases for CLN8 Gene

Aliases for CLN8 Gene

  • Ceroid-Lipofuscinosis, Neuronal 8 (Epilepsy, Progressive With Mental Retardation) 2 3
  • C8orf61 3 4
  • EPMR 3 6
  • Chromosome 8 Open Reading Frame 61 2
  • Protein CLN8 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 (Epilepsy, Progressive With Mental Retardation)) is a Protein Coding gene. Diseases associated with CLN8 include ceroid lipofuscinosis, neuronal, 8 and ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant. 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

Genomic Location for CLN8 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 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 :
  • Q9UBY8
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

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 Targeting 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

Gene Ontology (GO) - Cellular Components for CLN8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005783 endoplasmic reticulum IDA 10861296
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IDA 10861296
GO:0016021 integral component of membrane NAS 10508524
genes like me logo Genes that share ontologies with CLN8: view

Pathways 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:0001306 age-dependent response to oxidative stress IEA --
GO:0006644 phospholipid metabolic process IMP 16086686
GO:0006672 ceramide metabolic process IMP 16086686
GO:0006869 lipid transport NAS 12151215
GO:0007006 mitochondrial membrane organization IEA --
genes like me logo Genes that share ontologies with CLN8: view

Compounds for CLN8 Gene

(1) Novoseek inferred chemical compound relationships for CLN8 Gene

Compound -log(P) Hits PubMed IDs
lipid 0 1
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

Integrated Proteomics: protein expression 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 expressions with CLN8: view

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 35
  • 99.18 (n)
  • 99.3 (a)
CLN8 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CLN8 35
  • 75.99 (n)
  • 76.25 (a)
CLN8 36
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CLN8 35
  • 86.38 (n)
  • 90.14 (a)
CLN8 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cln8 35
  • 82.69 (n)
  • 85.96 (a)
Cln8 16
Cln8 36
  • 85 (a)
OneToOne
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 35
  • 65.04 (n)
  • 60.15 (a)
cln8 36
  • 56 (a)
OneToOne
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 MAF
rs730375 -- 1,760,592(-) AGTAA(C/G)CTCTT intron-variant
rs730376 -- 1,760,553(-) TGTCT(G/T)TCCAC intron-variant
rs730377 -- 1,759,785(+) GCACC(A/G)CGGTC intron-variant
rs730378 -- 1,759,881(+) TCGTT(A/C)TACAT intron-variant
rs730379 -- 1,759,927(+) GAAGA(A/C)ACAGG intron-variant

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

Relevant External Links for CLN8 Gene

HapMap Linkage Disequilibrium report
CLN8
Human Gene Mutation Database (HGMD)
CLN8
Locus Specific Mutation Databases (LSDB)
CLN8

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

Disorders for CLN8 Gene

(2) OMIM Diseases for CLN8 Gene (607837)

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:21990111}. 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.

(3) University of Copenhagen DISEASES for CLN8 Gene

(7) Novoseek inferred disease relationships for CLN8 Gene

Disease -log(P) Hits PubMed IDs
neuronal ceroid lipofuscinoses 96.7 3
northern epilepsy 95.6 4
lincl 94.8 5
neurodegenerative diseases 73.7 1
mental retardation 57.9 4

Relevant External Links for CLN8

GeneTests
CLN8
GeneReviews
CLN8
Genetic Association Database (GAD)
CLN8
Human Genome Epidemiology (HuGE) Navigator
CLN8
genes like me logo Genes that share disorders with CLN8: view

Publications for CLN8 Gene

  1. 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 4 23 48
  2. 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
  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 4 23
  4. 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 4 23
  5. Northern epilepsy, a new member of the NCL family. (PMID: 11073227) Ranta S. … Lehesjoki A.E. (Neurol. Sci. 2000) 3 23

Products for CLN8 Gene

Sources for CLN8 Gene

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