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CLN8 Gene

protein-coding   GIFtS: 60
GCID: GC08P001699

Ceroid-Lipofuscinosis, Neuronal 8 (Epilepsy, Progressive...

(Previous name: chromosome 8 open reading frame 61)
(Previous symbols: EPMR, C8orf61)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Ceroid-Lipofuscinosis, Neuronal 8 (Epilepsy, Progressive With Mental
Retardation)1 2
C8orf611 2 3
EPMR1 2 5
Chromosome 8 Open Reading Frame 611
Protein CLN82

External Ids:    HGNC: 20791   Entrez Gene: 20552   Ensembl: ENSG000001823727   OMIM: 6078375   UniProtKB: Q9UBY83   
ORGUL members:         

Export aliases for CLN8 gene to outside databases

Previous GC identifers: GC08U990020 GC08P002420 GC08P001862 GC08P001526


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 northern epilepsy, and late-infantile neuronal ceroid lipofuscinosis.

UniProtKB/Swiss-Prot: CLN8_HUMAN, Q9UBY8
Function: Could play a role in cell proliferation during neuronal differentiation and in protection against cell
death

Gene Wiki entry for CLN8 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000008.11  NT_023736.18  NT_187680.1  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CLN8 gene promoter:
         AML1a   MyoD   AP-2gamma   Nkx5-1   HEN1   STAT3   AP-2beta   AP-2alpha   AP-2alphaA   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CLN8 promoter sequence
   Search Chromatin IP Primers for CLN8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CLN8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p23   Ensembl cytogenetic band:  8p23.3   HGNC cytogenetic band: 8p23.3

CLN8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLN8 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P001699:  view genomic region     (about GC identifiers)

Start:
1,703,944 bp from pter      End:
1,734,738 bp from pter
Size:
30,795 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CLN8_HUMAN, Q9UBY8 (See protein sequence)
Recommended Name: Protein CLN8  
Size: 286 amino acids; 32787 Da
Secondary accessions: Q86U71 Q96I95

Explore the universe of human proteins at neXtProt for CLN8: NX_Q9UBY8

Explore proteomics data for CLN8 at MOPED

Post-translational modifications: 

  • Does not seem to be N-glycosylated1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CLN8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_061764.2  
    ENSEMBL proteins: 
     ENSP00000328182  

    CLN8 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for CLN8
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    Novus Biologicals CLN8 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CLN8

    CLN8 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    OriGene Custom Antibody Services for CLN8
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    Abcam antibodies for CLN8
    Cloud-Clone Corp. Antibodies for CLN8
    Search ThermoFisher Antibodies for CLN8
    LSBio Antibodies in human, mouse, rat for CLN8

    CLN8 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CLN8
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CLN8
    Cloud-Clone Corp. CLIAs for CLN8


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR006634 TLC-dom

    Graphical View of Domain Structure for InterPro Entry Q9UBY8

    ProtoNet protein and cluster: Q9UBY8

    1 Blocks protein domain: IPB006634 TRAM

    UniProtKB/Swiss-Prot: CLN8_HUMAN, Q9UBY8
    Similarity: Contains 1 TLC (TRAM/LAG1/CLN8) domain


    CLN8 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CLN8_HUMAN, Q9UBY8
    Function: Could play a role in cell proliferation during neuronal differentiation and in protection against cell
    death

         Genatlas biochemistry entry for CLN8:
    putative transmembrane protein homologous to mouse mnd

    Phenotypes:
         1 GenomeRNAi human phenotype for CLN8:
     Increased gamma-H2AX phosphory 

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cln8):
     behavior/neurological  mortality/aging  nervous system  pigmentation  reproductive system 
     vision/eye 

    CLN8 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CLN8
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CLN8

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CLN8
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CLN8

    miRNA
    Products:
        
    miRTarBase miRNAs that target CLN8:
    hsa-mir-484 (MIRT041713), hsa-mir-93-5p (MIRT048849)

    Block miRNA regulation of human, mouse, rat CLN8 using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate CLN8:
    hsa-miR-515-5p hsa-miR-30c hsa-miR-30a hsa-miR-30b hsa-miR-30d hsa-miR-519e* hsa-miR-30e
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CLN8
    Predesigned siRNA for gene silencing in human, mouse, rat CLN8

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CLN8

    Clone
    Products:
         
    OriGene clones in human, mouse for CLN8 (see all 9)
    OriGene ORF clones in mouse, rat for CLN8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CLN8 (NM_018941)
    Sino Biological Human cDNA Clone for CLN8
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CLN8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CLN8

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for CLN8
    Browse ESI BIO Cell Lines and PureStem Progenitors for CLN8 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLN8


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CLN8_HUMAN, Q9UBY8: Endoplasmic reticulum membrane; Multi-pass membrane protein. Endoplasmic reticulum-Golgi
    intermediate compartment membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3
    lysosome2
    mitochondrion2
    vacuole2

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005783endoplasmic reticulum IDA10861296
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005793endoplasmic reticulum-Golgi intermediate compartment IDA10861296
    GO:0016021integral component of membrane NAS10508524

    CLN8 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CLN8 About    
    See pathways by source

    SuperPathContained pathways About
    1Synaptic vesicle cycle
    Synaptic Vesicle Pathway0.50


    1 BioSystems Pathway for CLN8
        Synaptic Vesicle Pathway



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CLN8
    Interactions:

        GeneGlobe Interaction Network for CLN8

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for CLN8 (ENSP000003281824) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EXOC2ENSP000002304494STRING: ENSP00000230449
    ZNF598ENSP000004114094STRING: ENSP00000411409
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 33):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001306age-dependent response to oxidative stress IEA--
    GO:0006644phospholipid metabolic process IMP16086686
    GO:0006672ceramide metabolic process IMP16086686
    GO:0006869lipid transport NAS12151215
    GO:0007006mitochondrial membrane organization IEA--

    CLN8 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CLN8

    1 Novoseek inferred chemical compound relationship for CLN8 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lipid 0 2 16086686 (1)



    CLN8 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CLN8 gene (2 alternative transcripts): 
    NM_018941.3  NM_001034061.1  

    Unigene Cluster for CLN8:

    Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
    Hs.127675  [show with all ESTs]
    Unigene Representative Sequence: NM_018941
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000524258 ENST00000518780 ENST00000517514 ENST00000331222(uc003wpo.4)
    ENST00000520991 ENST00000519254 ENST00000523237
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CLN8 using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate CLN8:
    hsa-miR-515-5p hsa-miR-30c hsa-miR-30a hsa-miR-30b hsa-miR-30d hsa-miR-519e* hsa-miR-30e
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CLN8
    Predesigned siRNA for gene silencing in human, mouse, rat CLN8
    Clone
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    OriGene clones in human, mouse for CLN8 (see all 9)
    OriGene ORF clones in mouse, rat for CLN8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CLN8 (NM_018941)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CLN8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CLN8
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CLN8
    OriGene qSTAR qPCR primer pairs in human, mouse for CLN8
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CLN8
      QuantiTect SYBR Green Assays in human, mouse, rat CLN8
      QuantiFast Probe-based Assays in human, mouse, rat CLN8

    Additional mRNA sequence: 

    AF123757.1 AF123758.1 AF123759.1 AF123760.1 AF123761.1 AK096736.1 AK312486.1 BC007725.2 
    BC136825.1 BC141858.1 BT007049.1 

    12 DOTS entries:

    DT.205178  DT.95371301  DT.101982007  DT.91752714  DT.95371299  DT.100728595  DT.100784162  DT.100784160 
    DT.100784163  DT.120638870  DT.120638879  DT.40280484 

    Selected AceView cDNA sequences (see all 117):

    CF528588 BU623558 BX352161 AA865078 CF528469 AA765593 AI733012 BQ709003 
    BF062047 BE672230 CA431503 AI492192 CA420425 CK724982 AA398482 BX646622 
    AI246377 AW262794 AA807426 AA306161 AA732598 BE336652 NM_018941 BI518953 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CLN8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTAAAATAT
    CLN8 Expression
    About this image


    CLN8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
    CLN8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CLN8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.127675
        Custom PCR Arrays for CLN8
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for CLN8
    OriGene qSTAR qPCR primer pairs in human, mouse for CLN8
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    QuantiFast Probe-based Assays in human, mouse, rat CLN8
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLN8

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CLN8 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cln81 , 5 ceroid-lipofuscinosis, neuronal 81, 5 82.69(n)1
    85.96(a)1
      8 (7.59 cM)5
    268891  NM_012000.31  NP_036130.11 
     148813355 
    chicken
    (Gallus gallus)
    Aves CLN81 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive more 62.21(n)
    55.63(a)
      421902  NM_001031087.1  NP_001026258.1 
    lizard
    (Anolis carolinensis)
    Reptilia CLN86
    ceroid-lipofuscinosis, neuronal 8 (epilepsy, progr...
    57(a)
    1 ↔ 1
    1(158776243-158789131)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cln81 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive more 63.12(n)
    59.22(a)
      100489515  XM_004914486.1  XP_004914543.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cln81 ceroid-lipofuscinosis, neuronal 8 65.04(n)
    60.15(a)
      100136870  NM_001114588.1  NP_001108060.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CLN8 (see all 711)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1422698851,2,,4
    C,FCeroid lipofuscinosis, neuronal, 8 (CLN8)4 --1719594(+) GTCCAA/GCTTGA 2 N S mis11Minor allele frequency- G:0.00NA 4550
    rs1882590261,2,,4
    CCeroid lipofuscinosis, neuronal, 8 (CLN8)4 --1719729(+) GAGCAC/TGCCCT 2 T M mis10--------
    rs1500479041,2,,4
    C,FCeroid lipofuscinosis, neuronal, 8 (CLN8)4 --1728557(+) ATCTGC/GCTCAT 2 P A mis12Minor allele frequency- G:0.00NA EU 5873
    rs289405691,2,,4
    CCeroid lipofuscinosis, neuronal, 8 (CLN8)4 pathogenic11728661(+) GACTGC/GAACTT 2 C W mis1 ese30--------
    VAR_0669284
    Ceroid lipofuscinosis, neuronal, 8 (CLN8)4--see VAR_0669282 E V mis40--------
    VAR_0669224
    Ceroid lipofuscinosis, neuronal, 8 (CLN8)4--see VAR_0669222 I S mis40--------
    VAR_0584384
    Ceroid lipofuscinosis, neuronal, 8 (CLN8)4--see VAR_0584382 Y C mis40--------
    VAR_0265544
    Ceroid lipofuscinosis, neuronal, 8 (CLN8)4--see VAR_0265542 L M mis40--------
    VAR_0669244
    Ceroid lipofuscinosis, neuronal, 8 (CLN8)4--see VAR_0669242 H Y mis40--------
    VAR_0131744
    Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8NE)4--see VAR_0131742 R G mis40--------

    HapMap Linkage Disequilibrium report for CLN8 (1703944 - 1734738 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for CLN8:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509244CNV Insertion20534489
    dgv850n27CNV Loss19166990
    nsv465274CNV Loss19166990
    nsv889697CNV Gain21882294
    nsv889712CNV Gain21882294
    dgv7588n71CNV Gain21882294
    dgv7590n71CNV Gain21882294

    Human Gene Mutation Database (HGMD): CLN8
    Locus Specific Mutation Databases (LSDB): CLN8

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CLN8
    DNA2.0 Custom Variant and Variant Library Synthesis for CLN8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607837   
    OMIM disorders: 600143  610003  
    UniProtKB/Swiss-Prot: CLN8_HUMAN, Q9UBY8
  • 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. 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 16 diseases for CLN8:    
    About MalaCards
    northern epilepsy    late-infantile neuronal ceroid lipofuscinosis    neuronal ceroid-lipofuscinoses    neuronal ceroid lipofuscinosis
    cerebral atrophy    batten disease    mental retardation    lysosomal storage disease
    neuronitis    gaucher's disease    intellectual disability    blindness
    dementia    cerebritis    multiple myeloma    myeloma

    3 diseases from the University of Copenhagen DISEASES database for CLN8:
    Neuronal ceroid lipofuscinosis     Intellectual disability     Blindness

    CLN8 for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for CLN8 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neuronal ceroid lipofuscinoses 96.7 3 19431184 (1), 10508524 (1), 15629147 (1)
    northern epilepsy 95.6 4 15024724 (3), 15160397 (1)
    lincl 94.8 9 19431184 (2), 15160397 (1), 11001811 (1), 17564970 (1)
    neurodegenerative diseases 73.7 1 11073227 (1)
    mental retardation 57.9 4 19431184 (1), 10508524 (1), 15160397 (1), 11001811 (1)
    epilepsy 56 8 15826318 (3), 19431184 (1), 10508524 (1), 15160397 (1) (see all 5)
    neurodegeneration 49.7 3 15826318 (1), 11073227 (1), 10508524 (1)

    GeneTests: CLN8
    GeneReviews: CLN8
    Genetic Association Database (GAD): CLN8
    Human Genome Epidemiology (HuGE) Navigator: CLN8 (1 document)

    Export disorders for CLN8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CLN8 gene, integrated from 10 sources (see all 45):
    (articles sorted by number of sources associating them with CLN8)
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    1. The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. (PubMed id 10508524)1, 2, 3, 9 Ranta S....Lehesjoki A.-E. (Nat. Genet. 1999)
    2. Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. (PubMed id 19201763)1, 2, 4, 9 Kousi M....Lehesjoki A.-E. (Brain 2009)
    3. A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function. (PubMed id 19431184)1, 2, 9 Vantaggiato C.... Bassi M.T. (Hum. Mutat. 2009)
    4. Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. (PubMed id 15024724)1, 2, 9 Ranta S....Lehesjoki A.-E. (Hum. Mutat. 2004)
    5. Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation. (PubMed id 22388998)1, 4 Zhang C.K....Mistry P.K. (Am. J. Hematol. 2012)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. (PubMed id 10861296)1, 2 Lonka L.... Lehesjoki A.-E. (Hum. Mol. Genet. 2000)
    8. Northern epilepsy, a new member of the NCL family. (PubMed id 11073227)1, 9 Ranta S. and Lehesjoki A.E. (Neurol. Sci. 2000)
    9. Mass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain: a case study. (PubMed id 16086686)1, 9 Hermansson M....Lahtinen U. (J. Neurochem. 2005)
    10. Batten's disease: clues to neuronal protein catabolism in lysosomes. (PubMed id 10740217)1, 9 Dawson G. and Cho S. (J. Neurosci. Res. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2055 HGNC: 2079 AceView: CLN8 Ensembl:ENSG00000182372 euGenes: HUgn2055
    ECgene: CLN8 H-InvDB: CLN8

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CLN8 Pharmacogenomics, SNPs, Pathways
    NCL CLN8http://www.ucl.ac.uk/ncl/cln8.shtml
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CLN8[genesymbol]

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CLN8 gene:
    Search GeneIP for patents involving CLN8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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