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 a disorder characterized by progre... See more...

Aliases for CLN8 Gene

Aliases for CLN8 Gene

  • CLN8 Transmembrane ER And ERGIC Protein 2 3 5
  • Ceroid-Lipofuscinosis, Neuronal 8 2 3
  • Protein CLN8 3 4
  • C8orf61 3 4
  • Epilepsy, Progressive With Mental Retardation 2
  • CLN8, Transmembrane ER And ERGIC Protein 2
  • Chromosome 8 Open Reading Frame 61 2
  • TLCD6 3
  • EPMR 3

External Ids for CLN8 Gene

Previous HGNC Symbols for CLN8 Gene

  • EPMR
  • C8orf61

Previous GeneCards Identifiers for CLN8 Gene

  • GC08U990020
  • GC08P002420
  • GC08P001862
  • GC08P001699
  • 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 a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), 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 2017]

GeneCards Summary for CLN8 Gene

CLN8 (CLN8 Transmembrane ER And ERGIC Protein) 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. An important paralog of this gene is ENSG00000283239.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for CLN8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CLN8 Gene

Genomics for CLN8 Gene

GeneHancer (GH) Regulatory Elements for CLN8 Gene

Promoters and enhancers for CLN8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J001762 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 507.5 +9.1 9131 6.2 ZBTB40 ZNF217 ZSCAN5C NRF1 MYC POLR2G USF1 SP1 PHF8 ZFX ENSG00000253982 CLN8 ENSG00000283239 LOC101927752 ARHGEF10 piR-46324
GH08J001754 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 527.1 +0.3 257 2.9 TCF12 GTF2E2 JUND FOS POLR2A CLOCK ZBTB11 AFF1 TARDBP REST CLN8 LOC105377778 lnc-ERICH1-20-001 lnc-CLN8-2 ENSG00000253982 ENSG00000282021
GH08J001755 Promoter/Enhancer 0.8 Ensembl dbSUPER 500.7 -1.5 -1477 0.2 ZBTB40 SETDB1 MZF1 CBX3 CLN8 LOC105377778 RF00017-6812 lnc-ERICH1-20-001 lnc-CLN8-2 ENSG00000253982
GH08J001782 Promoter 0.3 EPDnew 513.5 +26.8 26779 0.1 CLN8 piR-46324 LOC101927752 ENSG00000283239
GH08J001744 Enhancer 1.5 FANTOM5 ENCODE dbSUPER 28 -10.0 -10012 3.2 CTCF NRF1 TCF12 SP1 JUND FOS ZFX EP300 CLOCK ZBTB11 lnc-ERICH1-20-002 CLN8 ENSG00000253982 lnc-CLN8-3 lnc-ERICH1-20-001
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CLN8 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CLN8

Top Transcription factor binding sites by QIAGEN in the CLN8 gene promoter:
  • AML1a
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • ATF6
  • HEN1
  • MyoD
  • Nkx5-1
  • STAT3

Genomic Locations for CLN8 Gene

Genomic Locations for CLN8 Gene
chr8:1,755,778-1,801,711
(GRCh38/hg38)
Size:
45,934 bases
Orientation:
Plus strand
chr8:1,703,944-1,734,738
(GRCh37/hg19)
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:
    • Interacts with CLN5.

neXtProt entry for CLN8 Gene

Post-translational modifications for CLN8 Gene

No data available for DME Specific Peptides for CLN8 Gene

Domains & Families for CLN8 Gene

Gene Families for CLN8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for CLN8 Gene

Blocks:
  • TRAM, LAG1 and CLN8 homology
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CLN8 Gene

GenScript: Design optimal peptide antigens:
  • Ceroid-lipofuscinosis, neuronal 8 (Epilepsy, progressive with mental retardation) (B9EGV9_HUMAN)
  • Protein CLN8 (CLN8_HUMAN)
genes like me logo Genes that share domains with CLN8: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CLN8 Gene

Function for CLN8 Gene

Molecular function for CLN8 Gene

UniProtKB/Swiss-Prot Function:
Could play a role in cell proliferation during neuronal differentiation and in protection against cell death.
GENATLAS Biochemistry:
putative transmembrane protein homologous to mouse mnd

Phenotypes From GWAS Catalog for CLN8 Gene

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

CRISPR Products

miRNA for CLN8 Gene

miRTarBase miRNAs that target CLN8

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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. Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CLN8 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
mitochondrion 3
lysosome 2
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1
endosome 1
cytosol 1
golgi apparatus 1

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,IEA 10861296
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IDA 10861296
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CLN8: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CLN8 Gene

Pathways & Interactions for CLN8 Gene

PathCards logo

SuperPathways for CLN8 Gene

SuperPathway 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

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

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

mRNA/cDNA for CLN8 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLN8

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

No ASD Table

Relevant External Links for CLN8 Gene

GeneLoc Exon Structure for
CLN8

Expression for CLN8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for CLN8 Gene



Protein tissue co-expression partners for CLN8 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CLN8

SOURCE GeneReport for Unigene cluster for CLN8 Gene:

Hs.127675

Evidence on tissue expression from TISSUES for CLN8 Gene

  • Nervous system(3.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CLN8 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns 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 31 30
  • 99.18 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CLN8 31 30
  • 86.38 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cln8 17 31 30
  • 82.69 (n)
rat
(Rattus norvegicus)
Mammalia Cln8 30
  • 82.46 (n)
oppossum
(Monodelphis domestica)
Mammalia CLN8 31
  • 78 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CLN8 31 30
  • 75.99 (n)
OneToOne
chicken
(Gallus gallus)
Aves CLN8 31 30
  • 62.21 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CLN8 31
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cln8 30
  • 63.12 (n)
zebrafish
(Danio rerio)
Actinopterygii cln8 31 30
  • 65.04 (n)
OneToOne
Species where no ortholog for CLN8 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CLN8: view image

Paralogs for CLN8 Gene

genes like me logo Genes that share paralogs with CLN8: view

Variants for CLN8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CLN8 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
644190 Uncertain Significance: Neuronal ceroid lipofuscinosis 1,771,525(+) C/G MISSENSE_VARIANT
650038 Uncertain Significance: Neuronal ceroid lipofuscinosis 1,771,338(+) A/G MISSENSE_VARIANT
654163 Pathogenic: Neuronal ceroid lipofuscinosis 1,771,349(+) C/T NONSENSE
655406 Uncertain Significance: Neuronal ceroid lipofuscinosis 1,780,388(+) C/G MISSENSE_VARIANT
656226 Uncertain Significance: Neuronal ceroid lipofuscinosis 1,780,304(+) A/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CLN8 Gene

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

Variant ID Type Subtype PubMed ID
dgv11822n54 CNV loss 21841781
dgv850n27 CNV loss 19166990
esv3576504 CNV gain 25503493
esv3615841 CNV loss 21293372
esv3615842 CNV gain 21293372
esv3615846 CNV loss 21293372
esv3891267 CNV gain 25118596
nsv1024325 CNV gain 25217958
nsv1025591 CNV gain 25217958
nsv465274 CNV loss 19166990
nsv509244 CNV insertion 20534489
nsv609527 CNV loss 21841781
nsv609528 CNV loss 21841781
nsv609531 CNV gain 21841781

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)

Additional Variant Information for CLN8 Gene

Human Gene Mutation Database (HGMD)
CLN8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLN8

SNP Genotyping and Copy Number Assay Products

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

Disorders for CLN8 Gene

MalaCards: The human disease database

(24) MalaCards diseases for CLN8 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant
  • ceroid lipofuscinosis, neuronal, 8
ceroid lipofuscinosis, neuronal, 8
  • cln8
ceroid storage disease
  • lipofuscin storage disease
neuronal ceroid lipofuscinosis
  • batten disease
neuronal ceroid-lipofuscinoses
  • lipofuscin storage disease
- 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.

Additional Disease Information for CLN8

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

No data available for Genatlas for CLN8 Gene

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 AE (Brain : a journal of neurology 2009) 3 4 23 41 54
  2. The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. (PMID: 10508524) Ranta S … Lehesjoki AE (Nature genetics 1999) 2 3 4 23 54
  3. Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins. (PMID: 19941651) Lyly A … Kyttälä A (BMC cell biology 2009) 3 4 23 54
  4. A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function. (PMID: 19431184) Vantaggiato C … Bassi MT (Human mutation 2009) 3 4 23 54
  5. Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. (PMID: 15024724) Ranta S … Lehesjoki AE (Human mutation 2004) 3 4 23 54

Products for CLN8 Gene

Sources for CLN8 Gene