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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CLN6 Gene

protein-coding   GIFtS: 53
GCID: GC15M068499

Ceroid-Lipofuscinosis, Neuronal 6, Late Infantile, Variant

Alzheimer's & Parkinson's Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Ceroid-Lipofuscinosis, Neuronal 6, Late Infantile, Variant1 2
CLN4A2
HsT189602
Ceroid-Lipofuscinosis Neuronal Protein 62
nclf2
Protein CLN63

External Ids:    HGNC: 20771   Entrez Gene: 549822   Ensembl: ENSG000001289737   OMIM: 6067255   UniProtKB: Q9NWW53   

Export aliases for CLN6 gene to outside databases

Previous GC identifers: GC15M064339 GC15M061598 GC15M066063 GC15M066215 GC15M066286 GC15M045330


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CLN6 Gene:
This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to
as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children.
The genes responsible likely encode proteins involved in the degradation of post-translationally modified
proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage
function. (provided by RefSeq, Oct 2008)

GeneCards Summary for CLN6 Gene: 
CLN6 (ceroid-lipofuscinosis, neuronal 6, late infantile, variant) is a protein-coding gene. Diseases associated with CLN6 include ceroid-lipofuscinosis, neuronal-6, variant late infantile, and ceroid lipofuscinosis neuronal 6. GO annotations related to this gene include protein binding and protein homodimerization activity.

Gene Wiki entry for CLN6 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CLN6 gene promoter:
         Egr-3   Max1   RP58   GATA-3   Egr-1   Lmo2   E47   RORalpha2   AREB6   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCLN6 promoter sequence
   Search SABiosciences Chromatin IP Primers for CLN6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CLN6


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

Entrez Gene cytogenetic band: 15q23   Ensembl cytogenetic band:  15q23   HGNC cytogenetic band: 15q23

CLN6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLN6 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M068499:  view genomic region     (about GC identifiers)

Start:
68,499,330 bp from pter      End:
68,549,549 bp from pter
Size:
50,220 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CLN6_HUMAN, Q9NWW5 (See protein sequence)
Recommended Name: Ceroid-lipofuscinosis neuronal protein 6  
Size: 311 amino acids; 35919 Da
Subunit: Interacts with CRMP2
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Secondary accessions: A8K560 Q6IAB1 Q96SR0

Explore the universe of human proteins at neXtProt for CLN6: NX_Q9NWW5

Explore proteomics data for CLN6 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NWW5

  • CLN6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CLN6 Protein Expression
    REFSEQ proteins: NP_060352.1  
    ENSEMBL proteins: 
     ENSP00000249806   ENSP00000457384   ENSP00000454818   ENSP00000457783   ENSP00000445770  
     ENSP00000457822   ENSP00000393826  

    Human Recombinant Protein Products for CLN6: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CLN6 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA15265688
    GO:0005788endoplasmic reticulum lumen IDA15010453
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016021integral to membrane NAS11727201

    CLN6 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q9NWW5


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19235893
    GO:0042803protein homodimerization activity IDA15010453
         
    CLN6 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CLN6:
     Increased S DNA content 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cln6):
     behavior/neurological  mortality/aging  nervous system  vision/eye 

    CLN6 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CLN6 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CLN6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CLN6 
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate CLN6:
    hsa-miR-324-3p hsa-miR-1207-5p
    SwitchGear 3'UTR luciferase reporter plasmidCLN6 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CLN6

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    4 Interacting proteins for CLN6 (Q9NWW53 ENSP000002498064) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CLN3Q132863I2D: score=1 
    DERL1ENSP000002595124STRING: ENSP00000259512
    VCPENSP000003517774STRING: ENSP00000351777
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001573ganglioside metabolic process IMP16857350
    GO:0007040lysosome organization ----
    GO:0007042lysosomal lumen acidification IMP11722572
    GO:0007601visual perception IEA--
    GO:0008203cholesterol metabolic process IMP16857350

    CLN6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CLN6 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CLN6

    1 Novoseek inferred chemical compound relationship for CLN6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lipid 0 1 17237713 (1)

    Search CenterWatch for drugs/clinical trials and news about CLN6

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CLN6 gene: 
    NM_017882.2  

    Unigene Cluster for CLN6:

    Ceroid-lipofuscinosis, neuronal 6, late infantile, variant
    Hs.584921  [show with all ESTs]
    Unigene Representative Sequence: NM_017882
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000249806(uc002arf.3 uc010ujy.2 uc010ujz.2) ENST00000565471
    ENST00000567060 ENST00000566347 ENST00000538696 ENST00000564752 ENST00000563917
    ENST00000564846 ENST00000569336 ENST00000418702

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CLN6
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate CLN6:
    hsa-miR-324-3p hsa-miR-1207-5p
    SwitchGear 3'UTR luciferase reporter plasmidCLN6 3' UTR sequence
    Inhib. RNA
    Products:
         
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CLN6
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CLN6

    Additional mRNA sequence: 

    AK000568.1 AK027604.1 AK074753.1 AK124013.1 AK291175.1 AK293155.1 AK293197.1 BC010849.1 
    BC013130.1 CR457244.1 

    16 DOTS entries:

    DT.97782925  DT.87016884  DT.91840980  DT.75194773  DT.100669373  DT.100795124  DT.121060538  DT.97824341 
    DT.100795125  DT.95129920  DT.99965500  DT.121060579  DT.121060780  DT.95129918  DT.121060643  DT.95105263 

    24/345 AceView cDNA sequences (see all 345):

    BM784575 BU683374 AI619710 BM848166 AI720931 AI651175 BU689640 CR608147 
    BG746573 CR598967 BM793802 AK092628 BM558480 BM711364 AI560410 BQ011879 
    BU732759 BX640702 BG026786 AI935982 AA447765 AA905452 BM709380 BF064123 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for CLN6 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d
    SP1:                                -                 -           -     -                                       
    SP2:                                -                 -                 -                                       
    SP3:                                -                 -     -     -     -                                       
    SP4:                          -     -                 -           -     -                                       
    SP5:                                                  -                                                         


    ECgene alternative splicing isoforms for CLN6

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CLN6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CLN6 Expression
    About this image


    See CLN6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CLN6

    SOURCE GeneReport for Unigene cluster: Hs.584921
        SABiosciences Custom PCR Arrays for CLN6
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLN6

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CLN6 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cln61 , 5 ceroid-lipofuscinosis, neuronal 61, 5 87.83(n)1
    91.45(a)1
      9 (33.89 cM)5
    765241  NM_001033175.21  NP_001028347.11 
     628387855 
    chicken
    (Gallus gallus)
    Aves CLN61 ceroid-lipofuscinosis, neuronal 6, late infantile, more 76.53(n)
    75.88(a)
      415558  XM_413928.3  XP_413928.3 
    lizard
    (Anolis carolinensis)
    Reptilia CLN66
    Uncharacterized protein
    83(a)
    1 ↔ 1
    GL343467.1(750932-758149)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.69762 Transcribed sequence with weak similarity to protein more 74.7(n)    BX720867.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.149692 Transcribed sequence with moderate similarity to protein more 75.72(n)    CK238175.1 


    ENSEMBL Gene Tree for CLN6 (if available)
    TreeFam Gene Tree for CLN6 (if available)

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

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/614 SNPs in CLN6 are shown (see all 614)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0215514
    Neuronal ceroid lipofuscinosis 6 (CLN6)4--see VAR_0215512 Y S mis40--------
    VAR_0669124
    Neuronal ceroid lipofuscinosis 6 (CLN6)4--see VAR_0669122 R H mis40--------
    VAR_0156834
    Neuronal ceroid lipofuscinosis 6 (CLN6)4--see VAR_0156832 G D mis40--------
    VAR_0669094
    Neuronal ceroid lipofuscinosis 6 (CLN6)4--see VAR_0669092 L P mis40--------
    VAR_0658414
    Neuronal ceroid lipofuscinosis 4A (CLN4A)4--see VAR_0658412 F T mis40--------
    VAR_0584364
    Neuronal ceroid lipofuscinosis 6 (CLN6)4--see VAR_0584362 P L mis40--------
    VAR_0658344
    Neuronal ceroid lipofuscinosis 4A (CLN4A)4--see VAR_0658342 R T mis40--------
    VAR_0156864
    Neuronal ceroid lipofuscinosis 6 (CLN6)4--see VAR_0156862 W R mis40--------
    VAR_0669114
    Neuronal ceroid lipofuscinosis 6 (CLN6)4--see VAR_0669112 F L mis40--------
    VAR_0669074
    Neuronal ceroid lipofuscinosis 6 (CLN6)4--see VAR_0669072 S F mis40--------

    HapMap Linkage Disequilibrium report for CLN6 (68499330 - 68549549 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CLN6: --

    Human Gene Mutation Database (HGMD): CLN6

    Locus Specific Mutation Databases (LSDB): CLN6
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CLN6
    DNA2.0 Custom Variant and Variant Library Synthesis for CLN6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606725   
    OMIM disorders: 601780  
    UniProtKB/Swiss-Prot: CLN6_HUMAN, Q9NWW5
  • Neuronal ceroid lipofuscinosis 6 (CLN6) [MIM:601780]: A form of neuronal ceroid lipofuscinosis. 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 6 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. Note=The disease is caused
    by mutations affecting the gene represented in this entry
  • Neuronal ceroid lipofuscinosis 4A (CLN4A) [MIM:204300]: An adult-onset neuronal ceroid lipofuscinosis.
    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. CLN4A has no visual involvement and is characterized by progressive myoclonic
    epilepsy. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 14 diseases for CLN6:    About MalaCards
    ceroid-lipofuscinosis, neuronal-6, variant late infantile    ceroid lipofuscinosis neuronal 6    neuronal ceroid-lipofuscinoses    cerebral atrophy
    batten disease    neuronal ceroid lipofuscinosis    progressive myoclonus epilepsy    lysosomal storage disease
    myoclonus epilepsy    neuronitis    myoclonus    blindness
    dementia    cerebritis

    2 diseases from the University of Copenhagen DISEASES database for CLN6:
    Neuronal ceroid lipofuscinosis     Visual epilepsy

    CLN6 for disorders           About GeneDecksing


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    5 Novoseek inferred disease relationships for CLN6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neuronal ceroid lipofuscinoses 95.9 1 19431184 (1)
    ceroid lipofuscinosis, neuronal, late infantile, variant 95.7 4 12673792 (1), 19520283 (1), 15010453 (1), 10191123 (1)
    lincl 93.9 4 10191126 (1), 19431184 (1), 15265688 (1), 17564970 (1)
    neurodegenerative diseases 72.8 1 11791207 (1)
    blindness 28.1 2 11791207 (1), 15010453 (1)

    GeneTests: CLN6
    GeneReviews: CLN6
    Genetic Association Database (GAD): CLN6
    Human Genome Epidemiology (HuGE) Navigator: CLN6 (1 document)

    Export disorders for CLN6 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 CLN6 gene, integrated from 9 sources (see all 54):
    (articles sorted by number of sources associating them with CLN6)
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    1. 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. (2009)
    2. The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein. (PubMed id 11727201)1, 2, 3, 9 Wheeler R.B....Mole S.E. (2002)
    3. Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis. (PubMed id 12815591)1, 2, 4 Sharp J.D....Mole S.E. (2003)
    4. Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis. (PubMed id 12673792)1, 2, 9 Teixeira C.A....Boustany R.-M.N. (2003)
    5. CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein. (PubMed id 15265688)1, 2, 9 Mole S.E....Cutler D.F. (2004)
    6. Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. (PubMed id 11791207)1, 2, 9 Gao H....MacDonald M.E. (2002)
    7. Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. (PubMed id 21549341)1, 2 Arsov T....Berkovic S.F. (2011)
    8. Protein product of CLN6 gene responsible for variant l ate-onset infantile neuronal ceroid lipofuscinosis interacts with CRMP-2. (PubMed id 19235893)1, 2 Benedict J.W....Pearce D.A. (2009)
    9. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 54982 HGNC: 2077 AceView: CLN6andCALML4 Ensembl:ENSG00000128973 euGenes: HUgn54982
    ECgene: CLN6 H-InvDB: CLN6

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CLN6 Pharmacogenomics, SNPs, Pathways
    NCL CLN6http://www.ucl.ac.uk/ncl/cln6.shtml
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CLN6

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