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

CLN5 Gene

protein-coding   GIFtS: 63
GCID: GC13P077564

Ceroid-Lipofuscinosis, Neuronal 5

Alzheimer's & Parkinson's Diseases Congress
  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)
About This Section

Aliases
Ceroid-Lipofuscinosis, Neuronal 51 2
NCL2
Ceroid-Lipofuscinosis Neuronal Protein 52
Protein CLN53

External Ids:    HGNC: 20761   Entrez Gene: 12032   Ensembl: ENSG000001028057   OMIM: 6081025   UniProtKB: O755033   

Export aliases for CLN5 gene to outside databases

Previous GC identifers: GC13P075532 GC13P071559 GC13P076501 GC13P075362 GC13P076462 GC13P058263


(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 CLN5 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 CLN5 Gene: 
CLN5 (ceroid-lipofuscinosis, neuronal 5) is a protein-coding gene. Diseases associated with CLN5 include ceroid lipofuscinosis neuronal 5, and ceroid-lipofuscinosis, neuronal-5, variant late infantile. GO annotations related to this gene include protein binding and mannose binding.

Gene Wiki entry for CLN5 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_000013.10  NT_024524.14  NC_018924.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CLN5 gene promoter:
         MEF-2A   Sox5   AML1a   Nkx2-2   Sox9   FOXD3   aMEF-2   HNF-3beta   Gfi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CLN5 promoter sequence
   Search SABiosciences Chromatin IP Primers for CLN5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CLN5


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

Entrez Gene cytogenetic band: 13q21.1-q32   Ensembl cytogenetic band:  13q22.3   HGNC cytogenetic band: 13q21.2-q32

CLN5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLN5 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P077564:  view genomic region     (about GC identifiers)

Start:
77,564,795 bp from pter      End:
77,576,652 bp from pter
Size:
11,858 bases      Orientation:
plus 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: CLN5_HUMAN, O75503 (See protein sequence)
Recommended Name: Ceroid-lipofuscinosis neuronal protein 5 precursor  
Size: 358 amino acids; 41497 Da
Subcellular location: Lysosome
Sequence caution: Sequence=AAC27614.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Explore the universe of human proteins at neXtProt for CLN5: NX_O75503

Explore proteomics data for CLN5 at MOPED 

Post-translational modifications:

  • UniProtKB: Glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75503

  • CLN5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CLN5 Protein Expression
    REFSEQ proteins: NP_006484.1  
    ENSEMBL proteins: 
     ENSP00000366673  

    Human Recombinant Protein Products for CLN5: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Novus Biologicals CLN5 Lysate
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CLN5 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome IDA11971870
    GO:0005765lysosomal membrane IDA12134079
    GO:0005775vacuolar lumen IEA--
    GO:0005783endoplasmic reticulum IDA12134079
    GO:0005794Golgi apparatus IDA12134079

    CLN5 for ontologies           About GeneDecksing



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    Assay Products for CLN5: 
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    Cloud-Clone Corp. ELISAs for CLN5 
    Cloud-Clone Corp. CLIAs for CLN5


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR026138 CLN5

    Graphical View of Domain Structure for InterPro Entry O75503

    ProtoNet protein and cluster: O75503

    UniProtKB/Swiss-Prot: CLN5_HUMAN, O75503
    Similarity: Belongs to the CLN5 family


    CLN5 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,
    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

    Molecular Function:
         Genatlas biochemistry entry for CLN5:
    putative lysosomal membrane protein,ubiquitously expressed,in adult and fetal tissues

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12134079
    GO:0005537mannose binding IDA16399764
         
    CLN5 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for CLN5:
     Decreased influenza A virus in  G0/1 arrest  Increased G1 DNA content  Metaphase cells 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cln5):
     nervous system  vision/eye 

    CLN5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cln5tm1Pltn for CLN5

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CLN5 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CLN5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CLN5 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CLN5 

    miRNA
    Products:
        
    miRTarBase miRNAs that target CLN5:
    hsa-mir-30a (MIRT005204)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CLN5
    5 QIAGEN miScript miRNA Assays for microRNAs that regulate CLN5:
    hsa-miR-1184 hsa-miR-922 hsa-miR-138 hsa-miR-548s hsa-miR-103a-2*
    SwitchGear 3'UTR luciferase reporter plasmidCLN5 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of CLN5

    Clone
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    OriGene clones in human, mouse for CLN5 (see all 7)
    OriGene ORF clones in mouse, rat for CLN5
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    GenScript: all cDNA clones in your preferred vector: CLN5 (NM_006493)
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                         Customized lentivirus expression plasmids for stable overexpression of CLN5 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLN5


    (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

    SuperPaths for CLN5 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Lysosome
    Lysosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1         Kegg Pathway  (Kegg details for CLN5):
        Lysosome


    CLN5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CLN5

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

    3 Interacting proteins for CLN5 (O755031, 2, 3 ENSP000003666734) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KRT8P057871, 3, ENSP000002933084EBI-1043514,EBI-297852 I2D: score=2 STRING: ENSP00000293308
    UBCENSP000003448184STRING: ENSP00000344818
    --P310162MINT-8107001
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006465signal peptide processing IDA--
    GO:0007040lysosome organization ----
    GO:0007042lysosomal lumen acidification IMP11722572
    GO:0007420brain development IEP10992246
    GO:0007601visual perception IEA--

    CLN5 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CLN5

    Search CenterWatch for drugs/clinical trials and news about CLN5

    (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 CLN5 gene: 
    NM_006493.2  

    Unigene Cluster for CLN5:

    Ceroid-lipofuscinosis, neuronal 5
    Hs.30213  [show with all ESTs]
    Unigene Representative Sequence: AF068227
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000377453(uc001vkc.3) ENST00000485938

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CLN5
    5 QIAGEN miScript miRNA Assays for microRNAs that regulate CLN5:
    hsa-miR-1184 hsa-miR-922 hsa-miR-138 hsa-miR-548s hsa-miR-103a-2*
    SwitchGear 3'UTR luciferase reporter plasmidCLN5 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CLN5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CLN5
    Clone
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    OriGene clones in human, mouse for CLN5 (see all 7)
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    GenScript: all cDNA clones in your preferred vector: CLN5 (NM_006493)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CLN5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CLN5
    Sirion Biotech Customized lentivirus for stable overexpression of CLN5 
                         Customized lentivirus expression plasmids for stable overexpression of CLN5 
    Primer
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    OriGene qPCR primer pairs and template standards for CLN5
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CLN5
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CLN5

    Additional mRNA sequence: 

    AF068227.1 AK075109.1 AK304001.1 

    8 DOTS entries:

    DT.75180488  DT.100781098  DT.92462143  DT.402712  DT.120781358  DT.102825063  DT.95309114  DT.92365650 

    24/156 AceView cDNA sequences (see all 156):

    AI554956 BI962915 BQ670758 AI654635 BG413405 AW183100 AI370471 BU558069 
    AI284529 AF068227 BQ446724 BM683232 BM929550 BI090566 BM725741 NM_006493 
    AI289848 AI370647 BE873363 BM930794 AI767299 BM757757 BQ417448 AL546472 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CLN5    About this scheme

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


    ECgene alternative splicing isoforms for CLN5

    (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

    CLN5 expression in normal human tissues (normalized intensities)      CLN5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGCAGACA
    CLN5 Expression
    About this image


    CLN5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Lung (Respiratory System)
             alveolar macrophages   
     
     Chorion (Extraembryonic Tissues)
             chorion villus cells   
     
     Blood (Respiratory System)
             alveolar macrophages   
     
     Brain (Nervous System)
             Striatum
     
     Thyroid (Endocrine System)

    See CLN5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CLN5

    SOURCE GeneReport for Unigene cluster: Hs.30213

    UniProtKB/Swiss-Prot: CLN5_HUMAN, O75503
    Tissue specificity: Ubiquitous

        SABiosciences Custom PCR Arrays for CLN5
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLN5

    (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 CLN5 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 Cln51 , 5 ceroid-lipofuscinosis, neuronal 51, 5 81.9(n)1
    78.53(a)1
      14 (51.71 cM)5
    2112861  NM_001033242.11  NP_001028414.11 
     1030702165 
    chicken
    (Gallus gallus)
    Aves CLN56
    Uncharacterized protein
    70(a)
    1 ↔ 1
    1(153666741-153675265)
    lizard
    (Anolis carolinensis)
    Reptilia CLN56
    Uncharacterized protein
    68(a)
    1 ↔ 1
    3(86653968-86660271)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia CF593022.12   -- 78.35(n)    CF593022.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cln51 ceroid-lipofuscinosis, neuronal 5 61.11(n)
    59.29(a)
      569407  XM_692790.3  XP_697882.1 


    ENSEMBL Gene Tree for CLN5 (if available)
    TreeFam Gene Tree for CLN5 (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

    10/335 SNPs in CLN5 are shown (see all 335)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0669014
    Neuronal ceroid lipofuscinosis 5 (CLN5)4--see VAR_0669012 W S mis40--------
    VAR_0669034
    Neuronal ceroid lipofuscinosis 5 (CLN5)4--see VAR_0669032 Y C mis40--------
    VAR_0668984
    Neuronal ceroid lipofuscinosis 5 (CLN5)4--see VAR_0668982 L P mis40--------
    VAR_0669024
    Neuronal ceroid lipofuscinosis 5 (CLN5)4--see VAR_0669022 N K mis40--------
    VAR_0051374
    Neuronal ceroid lipofuscinosis 5 (CLN5)4--see VAR_0051372 D N mis40--------
    VAR_0668994
    Neuronal ceroid lipofuscinosis 5 (CLN5)4--see VAR_0668992 P S mis40--------
    VAR_0427024
    Neuronal ceroid lipofuscinosis 5 (CLN5)4--see VAR_0427022 R P mis40--------
    VAR_0669004
    Neuronal ceroid lipofuscinosis 5 (CLN5)4--see VAR_0669002 W R mis40--------
    VAR_0668964
    Neuronal ceroid lipofuscinosis 5 (CLN5)4--see VAR_0668962 C Y mis40--------
    VAR_0590324
    Neuronal ceroid lipofuscinosis 5 (CLN5)4--see VAR_0590322 W C mis40--------

    HapMap Linkage Disequilibrium report for CLN5 (77564795 - 77576652 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CLN5:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv832653CNV Loss17160897
    nsv528367CNV Loss19592680
    nsv832652CNV Gain17160897


    Human Gene Mutation Database (HGMD): CLN5

    Locus Specific Mutation Databases (LSDB): CLN5
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CLN5
    DNA2.0 Custom Variant and Variant Library Synthesis for CLN5

    (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: 608102   
    OMIM disorders: 256731  
    UniProtKB/Swiss-Prot: CLN5_HUMAN, O75503
  • Neuronal ceroid lipofuscinosis 5 (CLN5) [MIM:256731]: 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 5 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • 20/21 diseases for CLN5 (see all 21):    About MalaCards
    ceroid lipofuscinosis neuronal 5    ceroid-lipofuscinosis, neuronal-5, variant late infantile    neuronal ceroid-lipofuscinoses    peripheral retinal degeneration
    cerebral atrophy    batten disease    epilepsy syndrome    neuronal ceroid lipofuscinosis
    myoclonus epilepsy    progressive myoclonus epilepsy    myoclonus    brain disease
    retinal degeneration    lysosomal storage disease    neuronitis    intellectual disability
    dementia    retinitis    blindness    cerebritis

    2 diseases from the University of Copenhagen DISEASES database for CLN5:
    Neuronal ceroid lipofuscinosis     Blindness

    CLN5 for disorders           About GeneDecksing


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    10/12 Novoseek inferred disease relationships for CLN5 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ceroid lipofuscinosis, neuronal, late infantile, variant 98 5 10419622 (2), 9662406 (1), 10953198 (1), 10480355 (1)
    neuronal ceroid lipofuscinoses 97.1 8 10992246 (2), 16839750 (1), 18850119 (1), 19084560 (1) (see all 6)
    lincl 95.8 28 9097964 (2), 9458173 (1), 18850119 (1), 19385065 (1) (see all 12)
    neurodegenerative diseases 75.9 4 18850119 (2), 19177532 (1)
    batten disease 64.3 2 11579433 (1)
    epilepsy 53.5 3 17607606 (1), 19084560 (1), 20052765 (1)
    neuron loss 50.7 1 19084560 (1)
    encephalopathy 45.9 1 17607606 (1)
    brain diseases 31.8 1 10480355 (1)
    atrophy 23.5 1 11579433 (1)

    Genatlas disease: CLN5
    ceroid-lipofuscinosis,neuronal 5,late infantile,Jansky-Bielschowsky disease variant,characterized by an onset
    five years motor clumsiness,followed by progressive visual failure with macular and peripheral retinal
    degeneration,mental and motor deterioration and later by myoclonia and siezures,including the Finnish variant
    with an onset between 13 or 30 years

    GeneTests: CLN5
    GeneReviews: CLN5
    Genetic Association Database (GAD): CLN5
    Human Genome Epidemiology (HuGE) Navigator: CLN5 (2 documents)

    Export disorders for CLN5 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)
    About This Section

    PubMed articles for CLN5 gene, integrated from 9 sources (see all 69):
    (articles sorted by number of sources associating them with CLN5)
        Utopia: connect your pdf to the dynamic
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    1. Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency. (PubMed id 16814585)1, 2, 9 Bessa C.... Ribeiro M.G. (2006)
    2. Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship. (PubMed id 19309691)1, 2, 9 Lebrun A.-H.... Schulz A. (2009)
    3. Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. (PubMed id 17607606)1, 2, 9 Cannelli N....Santorelli F.M. (2007)
    4. Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein. (PubMed id 11971870)1, 2, 9 Isosomppi J.... Peltonen L. (2002)
    5. CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. (PubMed id 9662406)1, 2, 9 Savukoski M....Peltonen L. (1998)
    6. Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. (PubMed id 19201763)1, 4, 9 Kousi M....Lehesjoki A.-E. (2009)
    7. CLN5 mutations are frequent in juvenile and late-onse t non-Finnish patients with NCL. (PubMed id 20157158)1, 4 Xin W....Sims K. (2010)
    8. A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset. (PubMed id 15728307)1, 2 Pineda-Trujillo N....Ruiz-Linares A. (2005)
    9. Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22. (PubMed id 8661106)1, 3 Klockars T....Peltonen L. (1996)
    10. Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses. (PubMed id 7942847)1, 3 Savukoski M....Peltonen L. (1994)

    (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)
    About This Section
    Entrez Gene: 1203 HGNC: 2076 AceView: CLN5 Ensembl:ENSG00000102805 euGenes: HUgn1203
    ECgene: CLN5 Kegg: 1203 H-InvDB: CLN5

    (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 CLN5 Pharmacogenomics, SNPs, Pathways
    NCL CLN5http://www.ucl.ac.uk/ncl/cln5.shtml
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CLN5

    (Patent information from GeneIP,
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    Patent Information for CLN5 gene:
    Search GeneIP for patents involving CLN5

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