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CLN3 Gene

protein-coding   GIFtS: 63
GCID: GC16M028488

Ceroid-Lipofuscinosis, Neuronal 3

(Previous names: Batten, Spielmeyer-Vogt disease)
(Previous symbol: BTS)
  See CLN3-related diseases

(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

Ceroid-Lipofuscinosis, Neuronal 31 2     Juvenile Neuronal Ceroid Lipofuscinosis1
BTS1 2 3 5     JNCL2
Batten Disease Protein2 3     battenin2
Batten, Spielmeyer-Vogt Disease1     Protein CLN33

External Ids:    HGNC: 20741   Entrez Gene: 12012   Ensembl: ENSG000001886037   OMIM: 6070425   UniProtKB: Q132863   

Export aliases for CLN3 gene to outside databases

Previous GC identifers: GC16P028406 GC16P028790 GC16P028559 GC16P028601 GC16M028396 GC16M026514

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

Entrez Gene summary for CLN3 Gene:
This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal
ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or
collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have
been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for CLN3 Gene:
CLN3 (ceroid-lipofuscinosis, neuronal 3) is a protein-coding gene. Diseases associated with CLN3 include juvenile batten disease, and batten disease. GO annotations related to this gene include unfolded protein binding. An important paralog of this gene is ENSG00000261832.

UniProtKB/Swiss-Prot: CLN3_HUMAN, Q13286
Function: Involved in microtubule-dependent, anterograde transport of late endosomes and lysosomes

Gene Wiki entry for CLN3 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)
About This Section

RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NC_018927.2  NT_187260.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the CLN3 gene promoter:
         AP-1   ATF-2   c-Jun   IRF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCLN3 promoter sequence
   Search Chromatin IP Primers for CLN3

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CLN3

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

Entrez Gene cytogenetic band: 16p12.1   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p12

CLN3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLN3 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M028488:  view genomic region     (about GC identifiers)

28,477,983 bp from pter      End:
28,506,896 bp from pter
28,914 bases      Orientation:
minus 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, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

UniProtKB/Swiss-Prot: CLN3_HUMAN, Q13286 (See protein sequence)
Recommended Name: Battenin precursor  
Size: 438 amino acids; 47623 Da
Subunit: Interacts with DCTN1 and KIF3A. Interacts with RAB7A and RILP
Secondary accessions: B2R7J1 O00668 O95089 Q549S9 Q9UP09 Q9UP11 Q9UP12 Q9UP13 Q9UP14
Alternative splicing: 6 isoforms:  Q13286-1   Q13286-2   Q13286-3   Q13286-4   Q13286-5   Q13286-6   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for CLN3: NX_Q13286

Explore proteomics data for CLN3 at MOPED

Post-translational modifications: 

  • Highly glycosylated1
  • Farnesylation is important for trafficking to lysosomes1
  • Ubiquitination2 at Lys262
  • Glycosylation2 at Asn71, Thr80, Asn85, Asn310
  • Modification sites at PhosphoSitePlus

  • See CLN3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_000077.1  NP_001035897.1  NP_001273033.1  NP_001273034.1  NP_001273038.1  NP_001273039.1  

    ENSEMBL proteins: 
     ENSP00000454466   ENSP00000454229   ENSP00000329171   ENSP00000350457   ENSP00000350523  
     ENSP00000455387   ENSP00000379014   ENSP00000455549   ENSP00000456693   ENSP00000454680  
     ENSP00000456117   ENSP00000455342   ENSP00000455603   ENSP00000456414   ENSP00000456013  
     ENSP00000458015   ENSP00000456122   ENSP00000457615   ENSP00000454899   ENSP00000455365  
     ENSP00000353116   ENSP00000353073   ENSP00000346650   ENSP00000347660   ENSP00000443221  

    CLN3 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for CLN3
    OriGene Custom MassSpec
    OriGene Custom Protein Services for CLN3
    GenScript Custom Purified and Recombinant Proteins Services for CLN3
    Novus Biologicals CLN3 Protein
    Novus Biologicals CLN3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    Search eBioscience for Proteins for CLN3 

    Search GeneTex for Proteins for CLN3 

    antibodies-online proteins for CLN3 (2 products) 

    antibodies-online peptides for CLN3

    CLN3 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for CLN3
    Novus Biologicals CLN3 Antibodies
    Abcam antibodies for CLN3
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for CLN3
    antibodies-online antibodies for CLN3 (22 products) 

    CLN3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CLN3
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CLN3
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for CLN3 
    antibodies-online kits for CLN3 (6 products) 

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

    3 InterPro protein domains:
     IPR018460 Battenin_disease_Cln3_subgr
     IPR003492 Battenin_disease_Cln3
     IPR016196 MFS_dom_general_subst_transpt

    Graphical View of Domain Structure for InterPro Entry Q13286

    ProtoNet protein and cluster: Q13286

    1 Blocks protein domain: IPB003492 CLN3 Batten's disease protein (battenin) signature

    UniProtKB/Swiss-Prot: CLN3_HUMAN, Q13286
    Similarity: Belongs to the battenin family

    Find genes that share domains with CLN3           About GenesLikeMe

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway, and/or Taconic Biosciences, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CLN3_HUMAN, Q13286
    Function: Involved in microtubule-dependent, anterograde transport of late endosomes and lysosomes

         Genatlas biochemistry entry for CLN3:
    integral lysosomal membrane protein battenin,highly conserved,with alternatively spliced forms,expressed in
    astrocytes,capillary endothelium and neurons of gray matter of the brain in peripheral nerve,pancreatic islet
    cells and within the seminiferous tubules of the testis,involved in synaptic trafficking through the endoplasmic
    reticulum and Golgi,potentially protecting neurons from apoptosis mediated by ceramide,yeast BTN1 ortholog

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12134079
    GO:0051082unfolded protein binding TAS8980123
    Find genes that share ontologies with CLN3           About GenesLikeMe

         2 GenomeRNAi human phenotypes for CLN3:
     Decreased Tat-dependent transc  Decreased p24 protein expressi 

         10 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Cln3):
     behavior/neurological  cellular  homeostasis/metabolism  liver/biliary system  mortality/aging 
     nervous system  no phenotypic analysis  renal/urinary system  reproductive system  vision/eye 

    Find genes that share phenotypes with CLN3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for CLN3: Cln3tm1Mkat Cln3tm1Mem Cln3tm1Nbm Cln3tm1.1Mem

       genOway: Develop your customized and physiologically relevant rodent model for CLN3

        Search Taconic Biosciences for animal models for CLN3 

    miRTarBase miRNAs that target CLN3:
    hsa-mir-7-5p (MIRT025765), hsa-mir-877-3p (MIRT037057)

    Block miRNA regulation of human, mouse, rat CLN3 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate CLN3
    SwitchGear 3'UTR luciferase reporter plasmidCLN3 3' UTR sequence
    Inhib. RNA
    OriGene RNAi products in human, mouse, rat for CLN3
    Predesigned siRNA for gene silencing in human, mouse, rat CLN3

    Gene Editing
    DNA2.0 Custom Protein Engineering Service for CLN3

    OriGene clones in human, mouse for CLN3 (see all 11)
    OriGene ORF clones in mouse, rat for CLN3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CLN3 (NM_001042432)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CLN3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CLN3

    Cell Line
    GenScript Custom overexpressing Cell Line Services for CLN3
    Browse ESI BIO Cell Lines and PureStem Progenitors for CLN3 
    In Situ Assay

    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLN3

    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
    About This Section

    Subcellular locations from UniProtKB/Swiss-Prot
    CLN3_HUMAN, Q13286: Lysosome membrane; Multi-pass membrane protein. Late endosome
    Subcellular locations from COMPARTMENTS: 

    endoplasmic reticulum5
    golgi apparatus5
    plasma membrane5

    Gene Ontology (GO): Selected cellular component terms (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IDA10191111
    GO:0005634nucleus IDA10191116
    GO:0005737cytoplasm IDA10191116
    GO:0005739mitochondrion TAS8980123
    GO:0005764lysosome IDA10924275

    Find genes that share ontologies with CLN3           About GenesLikeMe

    (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 GenesLikeMe, 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, Sets of similar genes according to GenesLikeMe)
    About This Section

    SuperPaths for CLN3 About    
    See pathways by source

    SuperPathContained pathways About

    Find genes that share SuperPaths with CLN3           About GenesLikeMe

    Pathways by source                                   See SuperPaths
    Show all pathways

    1 Kegg Pathway  (Kegg details for CLN3):

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CLN3: 
              GABA & Glutamate in human mouse rat
              Autophagy in human mouse rat
              Prostate Cancer in human mouse rat


        GeneGlobe Interaction Network for CLN3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CLN3 (Q132863 ENSP000003530734) via UniProtKB, MINT, STRING, and/or I2D (see all 715)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 32):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000046autophagic vacuole fusion ISS--
    GO:0001508action potential ISS--
    GO:0001575globoside metabolic process IMP15240864
    GO:0006457protein folding TAS8980123
    GO:0006520cellular amino acid metabolic process ISS--

    Find genes that share ontologies with CLN3           About GenesLikeMe

    (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, Sets of similar genes according to GenesLikeMe)
    About This Section

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

    Browse Tocris compounds for CLN3

    8 Novoseek inferred chemical compound relationships for CLN3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mannose 6-phosphate 42.5 2 17286803 (1), 9878558 (1)
    ceramide 33.6 7 10191118 (3), 16151633 (2)
    atp 10.8 2 11589015 (1), 10356317 (1)
    arginine 4.06 3 14660799 (2), 17896996 (1)
    glutamate 1.58 2 9490299 (1), 9450775 (1)
    lysine 0 1 9450775 (1)
    lipid 0 4 17896996 (1), 18317235 (1), 17237713 (1), 15094366 (1)
    serine 0 1 9878558 (1)

    Find genes that share compounds with CLN3           About GenesLikeMe

    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    REFSEQ mRNAs for CLN3 gene (6 alternative transcripts): 
    NM_000086.2  NM_001042432.1  NM_001286104.1  NM_001286105.1  NM_001286109.1  NM_001286110.1  

    Unigene Cluster for CLN3:

    Ceroid-lipofuscinosis, neuronal 3
    Hs.534667  [show with all ESTs]
    Unigene Representative Sequence: AK090709
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 41):
    ENST00000564091 ENST00000569430 ENST00000333496 ENST00000563874(uc002dqa.2 uc010vcx.1)
    ENST00000357806(uc021tfs.1) ENST00000357857 ENST00000567963(uc002dpx.1)
    ENST00000395653 ENST00000565354 ENST00000568422 ENST00000566057 ENST00000569030
    ENST00000565316 ENST00000568452 ENST00000568076 ENST00000561689 ENST00000565140
    Block miRNA regulation of human, mouse, rat CLN3 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate CLN3
    SwitchGear 3'UTR luciferase reporter plasmidCLN3 3' UTR sequence
    Inhib. RNA
    OriGene RNAi products in human, mouse, rat for CLN3
    Predesigned siRNA for gene silencing in human, mouse, rat CLN3
    OriGene clones in human, mouse for CLN3 (see all 11)
    OriGene ORF clones in mouse, rat for CLN3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CLN3 (NM_001042432)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CLN3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CLN3
    OriGene qPCR primer pairs and template standards for CLN3
    OriGene qSTAR qPCR primer pairs in human, mouse for CLN3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CLN3
      QuantiTect SYBR Green Assays in human, mouse, rat CLN3
      QuantiFast Probe-based Assays in human, mouse, rat CLN3

    Additional mRNA sequence: 

    AF015593.1 AF015594.1 AF015595.1 AF015596.1 AF015597.1 AF015598.1 AF015599.1 AF015600.1 
    AF015601.1 AF015602.1 AF077956.1 AF077957.1 AF077958.1 AF077959.1 AF077960.1 AF077961.1 
    AF077962.1 AF077966.1 AF077970.1 AF077971.1 AF077972.1 AF078168.1 AF078169.1 AK090709.1 
    AK294070.1 AK294250.1 AK295500.1 AK297690.1 AK302027.1 AK302138.1 AK313002.1 BC002394.2 
    BC004433.1 BC111068.1 U32680.1 

    Selected DOTS entries (see all 37):

    DT.87018129  DT.100867986  DT.95239976  DT.100831826  DT.95368403  DT.100868011  DT.92457282  DT.95368415 
    DT.92457287  DT.92457300  DT.97860083  DT.100868007  DT.100868000  DT.120696604  DT.120696706  DT.92457289 
    DT.92457297  DT.100868006  DT.120696247  DT.100844156  DT.120695125  DT.91867272  DT.100868014  DT.102843670 

    Selected AceView cDNA sequences (see all 260):

    BI761771 BQ067057 AL536863 CA444377 BM726882 CR613621 AL555221 AU121777 
    CR605499 BM923971 BI490061 AK090709 T08995 BM795168 BG696720 BU150620 
    CR597053 AF077971 CR601899 AU099671 BX393642 AI355261 BU619787 CB117283 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CLN3 (see all 25)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d · 4e · 4f · 4g · 4h ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b · 13c ^
    SP1:                                -     -     -     -     -                             -                                                     -               
    SP2:                                                                                      -                                                     -               
    SP3:                                                                                      -                       -                             -               
    SP4:                                                                                      -                                                     -               
    SP5:                                                                                      -                                                     -               

    ExUns: 14a · 14b ^ 15a · 15b ^ 16 ^ 17a · 17b · 17c ^ 18 ^ 19a · 19b · 19c · 19d · 19e
    SP1:        -                                                                           
    SP2:        -                                                                           
    SP3:        -                                                                           
    SP4:        -                                                                           
    SP5:              -     -                                                               

    ECgene alternative splicing isoforms for CLN3

    (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 GenesLikeMe, 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)
    About This Section

    CLN3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CLN3 Expression
    About this image

    CLN3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CLN3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.534667
        Pathway & Disease-focused RT2 Profiler PCR Arrays including CLN3: 
              GABA & Glutamate in human mouse rat
              Autophagy in human mouse rat
              Prostate Cancer in human mouse rat

    OriGene qPCR primer pairs and template standards for CLN3
    OriGene qSTAR qPCR primer pairs in human, mouse for CLN3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CLN3
    QuantiTect SYBR Green Assays in human, mouse, rat CLN3
    QuantiFast Probe-based Assays in human, mouse, rat CLN3
    In Situ
    Assay Products:

    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLN3

    (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 animals and fungi.

    Orthologs for CLN3 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    Gene Description Human
    (Mus musculus)
    Mammalia Cln31 , 5 ceroid lipofuscinosis, neuronal 3, juvenile (Batten, more1, 5 82.91(n)1
      7 (69.16 cM)5
    127521  NM_009907.31  NP_034037.31 
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    1 → many
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.152912 Xenopus laevis transcribed sequence with weak similarity more 76.05(n)    48012878 
    (Danio rerio)
    Actinopterygii Dr.31672 Transcribed sequence with weak similarity to protein more 72.42(n)    57057328 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG55823
    cln31 40(a)3
    399811  NM_140754.21  NP_649011.11 
    (Caenorhabditis elegans)
    Secernentea cln-3.13
    Human CLN3 protein like3
    (best of 3)3
    1721711  NM_059155.61  NP_491556.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YHC3(YJL059W)4
    Vacuolar membrane protein involved in the ATP-dependent more4
    8533871, 4  NP_012476.11, 4 

    ENSEMBL Gene Tree for CLN3 (if available)
    TreeFam Gene Tree for CLN3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to Build 68,Sets of similar genes according to GenesLikeMe)
    About This Section

    Paralogs for CLN3 gene

    Find genes that share paralogs with CLN3           About GenesLikeMe

    (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)
    About This Section

    Selected SNPs for CLN3 (see all 538)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    Chr 16 posSequence#AA
    Ceroid lipofuscinosis, neuronal, 3 (CLN3)4--see VAR_0051342 V F mis40--------
    Ceroid lipofuscinosis, neuronal, 3 (CLN3)4--see VAR_0051322 L P mis40--------
    Ceroid lipofuscinosis, neuronal, 3 (CLN3)4--see VAR_0051312 L P mis40--------
    Ceroid lipofuscinosis, neuronal, 3 (CLN3)4--see VAR_0051352 R C mis40--------
    Ceroid lipofuscinosis, neuronal, 3 (CLN3)4--see VAR_0668942 G R mis40--------
    Ceroid lipofuscinosis, neuronal, 3 (CLN3)4--see VAR_0668932 G A mis40--------
    Ceroid lipofuscinosis, neuronal, 3 (CLN3)4--see VAR_0051362 R H mis40--------
    Ceroid lipofuscinosis, neuronal, 3 (CLN3)4--see VAR_0051332 E K mis40--------
    Ceroid lipofuscinosis, neuronal, 3 (CLN3)4--see VAR_0668922 C R mis40--------
    C--26531542(+) TGGCT-/GGGTGGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CLN3 (28477983 - 28506896 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for CLN3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2673092CNV Deletion23128226
    nsv509608CNV Insertion20534489
    nsv103376CNV Loss16902084
    nsv833180CNV Loss17160897
    nsv9415CNV Gain18304495
    nsv905688CNV Gain21882294
    dgv842e1CNV Complex17122850
    dgv843e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): CLN3
    Locus Specific Mutation Databases (LSDB): CLN3

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CLN3
    DNA2.0 Custom Variant and Variant Library Synthesis for CLN3

    (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, Sets of similar genes according to GenesLikeMe)
    About This Section

    OMIM gene information: 607042   
    OMIM disorders: 204200  
    UniProtKB/Swiss-Prot: CLN3_HUMAN, Q13286
  • Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200]: 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 hallmark of CLN3 is the ultrastructural pattern of lipopigment with a
    fingerprint profile, which can have 3 different appearances: pure within a lysosomal residual body; in
    conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound
    lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of
    blood lymphocytes from patients with neuronal ceroid lipofuscinosis type 3. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 8 diseases for CLN3:    
    About MalaCards
    juvenile batten disease    batten disease    neuronal ceroid lipofuscinosis    neuronal ceroid-lipofuscinoses
    ceroid lipofuscinosis neuronal 1    northern epilepsy    lafora disease    late-infantile neuronal ceroid lipofuscinosis

    3 inferred disease relationships from the University of Copenhagen DISEASES database for CLN3:
    Neuronal ceroid lipofuscinosis     Neurodegenerative disease     Blindness

    Find genes that share disorders with CLN3           About GenesLikeMe

    Selected Novoseek inferred disease relationships for CLN3 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    batten disease 98.3 95 10527801 (4), 11590129 (4), 10916181 (3), 14699076 (3) (see all 55)
    neuronal ceroid lipofuscinoses 96 9 15032383 (2), 11001812 (1), 17896996 (1), 18552385 (1) (see all 6)
    lincl 92.4 8 11339651 (2), 9097964 (1), 9458173 (1), 10446748 (1) (see all 6)
    neurodegenerative diseases 79.3 17 14644441 (2), 11589015 (1), 20015955 (1), 17896996 (1) (see all 16)
    lysosomal storage diseases 73.2 1 18314010 (1)
    lafora disease 58.5 1 11579433 (1)
    neurodegeneration 55.7 2 10191118 (1), 11921051 (1)
    retinal degeneration 53.9 2 10964839 (1), 18265413 (1)
    chromosome deletion 53.2 2 9490299 (1), 9450775 (1)
    visual loss 46.4 1 16720047 (1)

    Genatlas disease: CLN3
    ceroid-lipofuscinosis,neuronal 3,juvenile,Batten (Spielmeyer-Vogt-Sjogren) disease,progressive neurodegenerative
    disease with an onset between 5 and 10 years,characterized by retinitis pigmentosa and a rapid loss of vision
    with macular and peripheral retinal degeneration,cognitive and motor dysfunction,seizures in childhood,a fatal
    outcome within a decade,and a characteristic fingerprint profile inclusions in different cells,including the
    variant form with granular osmiophilic deposits (GROD)

    GeneTests: CLN3
    GeneReviews: CLN3
    Genetic Association Database (GAD): CLN3
    Human Genome Epidemiology (HuGE) Navigator: CLN3 (2 documents)

    Export disorders for CLN3 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 CLN3 gene, integrated from 10 sources (see all 178) (see top 10):
    (articles sorted by number of sources associating them with CLN3)

    1. Expression studies of CLN3 protein (battenin) in fusion with the green fluorescent protein in mammalian cells in vitro. (PubMed id 10191115)1, 2, 9 Golabek A.A....Wisniewski K.E. (Mol. Genet. Metab. 1999)
    2. Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3. (PubMed id 9119403)1, 2, 9 Mitchison H.M.... Mole S.E. (Genomics 1997)
    3. C-terminal prenylation of the CLN3 membrane glycoprotein is required for efficient endosomal sorting to lysosomes. (PubMed id 17286803)1, 2, 9 Storch S.... Braulke T. (Traffic 2007)
    4. Spectrum of mutations in the Batten disease gene, CLN3. (PubMed id 9311735)1, 2, 9 Munroe P.B.... Mole S.E. (Am. J. Hum. Genet. 1997)
    5. Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. (PubMed id 9490299)1, 2, 9 Zhong N.... Brown W.T. (Hum. Genet. 1998)
    6. Isolation of a novel gene underlying Batten disease, CLN3. (PubMed id 7553855)1, 2, 9 Lerner T.J.... Mole S.E. (Cell 1995)
    7. CLN3p impacts galactosylceramide transport, raft morphology, and lipid content. (PubMed id 18317235)1, 3, 9 Rusyn E....Boustany R.M. (Pediatr. Res. 2008)
    8. Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments. (PubMed id 22261744)1, 2 Uusi-Rauva K.... Jalanko A. (Cell. Mol. Life Sci. 2012)
    9. Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease). (PubMed id 20187884)1, 4 Adams H.R....Mink J.W. (Dev Med Child Neurol 2010)
    10. Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. (PubMed id 21102463)1, 4 Franke A....Parkes M. (Nat. Genet. 2010)
    11. Common variants at five new loci associated with early-onset inflammatory bowel disease. (PubMed id 19915574)1, 4 Imielinski M....Hakonarson H. (Nat. Genet. 2009)
    12. Integral and associated lysosomal membrane proteins. (PubMed id 17897319)1, 2 Schroeder B.... Hasilik A. (Traffic 2007)
    13. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    14. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    15. An unappreciated role for RNA surveillance. (PubMed id 14759258)1, 2 Hillman R.T.... Brenner S.E. (Genome Biol. 2004)
    16. 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)
    17. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PubMed id 10493829)1, 2 Loftus B.J.... Adams M.D. (Genomics 1999)
    18. Studies of membrane association of CLN3 protein. (PubMed id 10191112)1, 9 Kaczmarski W....Michalewski M. (Mol. Genet. Metab. 1999)
    19. CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: new clues to Batten disease. (PubMed id 11590129)1, 9 Luiro K....Jalanko A. (Hum. Mol. Genet. 2001)
    20. Intracellular trafficking of the JNCL protein CLN3. (PubMed id 10191111)1, 9 Haskell R.E....Davidson B.L. (Mol. Genet. Metab. 1999)
    21. Expression of cln3 in human NT2 neuronal precursor cells and neonatal rat brain. (PubMed id 10509355)1, 9 Pane M.A....Boustany R.M. (Pediatr. Res. 1999)
    22. CLN3, the protein associated with batten disease: structure, function and localization. (PubMed id 15657902)1, 9 Phillips S.N....Pearce D.A. (J. Neurosci. Res. 2005)
    23. Tissue expression and subcellular localization of CLN3, the Batten disease protein. (PubMed id 10191116)1, 9 Margraf L.R....Bennett M.J. (Mol. Genet. Metab. 1999)
    24. Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway. (PubMed id 15471887)1, 9 Luiro K....Jalanko A. (Hum. Mol. Genet. 2004)
    25. Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype. (PubMed id 16087292)1, 9 Kwon J.M....Pearce D.A. (Neurosci. Lett. 2005)
    26. A dileucine motif and a cluster of acidic amino acids in the second cytoplasmic domain of the batten disease-related CLN3 protein are required for efficient lysosomal targeting. (PubMed id 15469932)1, 9 Storch S....Braulke T. (J. Biol. Chem. 2004)
    27. Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells. (PubMed id 14699076)1, 9 KyttAolAo A....Luzio J.P. (Mol. Biol. Cell 2004)
    28. Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathways. (PubMed id 19028667)1, 9 Tuxworth R.I....Tear G. (Hum. Mol. Genet. 2009)
    29. A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis. (PubMed id 17947292)1, 9 Kitzmuller C.... Mole S.E. (Hum. Mol. Genet. 2008)
    30. Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease. (PubMed id 9384607)1, 9 JAorvelAo I....Jalanko A. (Hum. Mol. Genet. 1998)
    31. Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models. (PubMed id 18678598)1, 9 Chan C.H....Pearce D.A. (Hum. Mol. Genet. 2008)
    32. btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3, regulates vacuole homeostasis. (PubMed id 16291725)1, 9 Gachet Y....Mole S.E. (J. Cell. Sci. 2005)
    33. CLN3 protein regulates lysosomal pH and alters intracellular processing of Alzheimer's amyloid-beta protein precursor and cathepsin D in human cells. (PubMed id 10924275)1, 9 Golabek A.A....Wisniewski K.E. (Mol. Genet. Metab. 2000)
    34. Interaction between Sdo1p and Btn1p in the Saccharomyces cerevisiae model for Batten disease. (PubMed id 20015955)1, 9 Vitiello S.P....Pearce D.A. (Hum. Mol. Genet. 2010)
    35. Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect. (PubMed id 15032383)1, 9 de los Reyes E....Mrak R.E. (J. Child Neurol. 2004)
    36. A role in vacuolar arginine transport for yeast Btn1p and for human CLN3, the protein defective in Batten disease. (PubMed id 14660799)1, 9 Kim Y....Pearce D.A. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    37. Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis. (PubMed id 12189165)1, 9 Persaud-Sawin D.A....Boustany R.M. (Hum. Mol. Genet. 2002)
    38. Identification of a transactivation motif in the CLN3 protein. (PubMed id 11699874)1, 9 Leung K.Y....Mole S.E. (IUBMB Life 2001)
    39. Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X). (PubMed id 19489875)1, 9 Sarpong A....Schuelke M. (Clin. Genet. 2009)
    40. CLN3L, a novel protein related to the Batten disease protein, is overexpressed in Cln3-/- mice and in Batten disease. (PubMed id 15240430)1, 9 Narayan S.B.... Bennett M.J. (Brain 2004)
    41. Loss of the Batten disease gene CLN3 prevents exit from the TGN of the mannose 6-phosphate receptor. (PubMed id 18817525)1, 9 Metcalf D.J....Cutler D.F. (Traffic 2008)
    42. Juvenile neuronal ceroid-lipofuscinosis (Batten disease): a brief review and update. (PubMed id 17896996)1, 9 Rakheja D....Bennett M.J. (Curr. Mol. Med. 2007)
    43. A novel role of the Batten disease gene CLN3: association with BMP synthesis. (PubMed id 17482562)1, 9 Hobert J.A. and Dawson G. (Biochem. Biophys. Res. Commun. 2007)
    44. Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis. (PubMed id 9450775)1, 9 Wisniewski K.E....Wisniewski T.M. (Ann. Neurol. 1998)
    45. Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease). (PubMed id 7887420)1, 9 Taschner P.E....Breuning M.H. (Am. J. Hum. Genet. 1995)
    46. Lysosome-related genes are regulated in the orbital fat of patients with graves' ophthalmopathy. (PubMed id 18552385)1, 9 Chen M.H....Chuang L.M. (amp 2008)
    47. Developmental impairments of select neurotransmitter systems in brains of Cln3(Deltaex7/8) knock-in mice, an animal model of juvenile neuronal ceroid lipofuscinosis. (PubMed id 18265413)1, 9 Herrmann P....Schliebs R. (J. Neurosci. Res. 2008)
    48. Over-expression of CLN3P, the Batten disease protein, inhibits PANDER-induced apoptosis in neuroblastoma cells: further evidence that CLN3P has anti-apoptotic properties. (PubMed id 16515873)1, 9 Narayan S.B....Bennett M.J. (Mol. Genet. Metab. 2006)
    49. The Batten disease gene product (CLN3p) is a Golgi integral membrane protein. (PubMed id 9949212)1, 9 Kremmidiotis G....Callen D.F. (Hum. Mol. Genet. 1999)
    50. Drafting the CLN3 protein interactome in SH-SY5Y human neuroblastoma cells: a label-free quantitative proteomics approach. (PubMed id 23464991)1 Scifo E....Lalowski M. (J. Proteome Res. 2013)
    51. Osmotic stress changes the expression and subcellular localization of the Batten disease protein CLN3. (PubMed id 23840424)1 Getty A....Pearce D.A. (PLoS ONE 2013)
    52. Proteome-wide identification of ubiquitylation sites by conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (J. Proteome Res. 2012)
    53. Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. (PubMed id 21990111)2 Kousi M.... Mole S.E. (Hum. Mutat. 2012)
    54. A data set of human endogenous protein ubiquitination sites. (PubMed id 20972266)1 Shi Y....Qin J. (amp 2011)
    55. Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells. (PubMed id 21359198)1 Cao Y....Cotman S.L. (PLoS ONE 2011)
    56. The yeast Batten disease orthologue Btn1 controls endosome-Golgi retrograde transport via SNARE assembly. (PubMed id 21987636)1 Kama R....Gerst J.E. (J. Cell Biol. 2011)
    57. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    58. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    59. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    60. Screening for calcium channel modulators in CLN3 siRNA knock down SH-SY5Y neuroblastoma cells reveals a significant decrease of intracellular calcium levels by selected L-type calcium channel blockers. (PubMed id 20933060)1 An Haack K....Bennett M.J. (Biochim. Biophys. Acta 2011)
    61. A knock-in reporter mouse model for Batten disease reveals predominant expression of Cln3 in visual, limbic and subcortical motor structures. (PubMed id 20875858)1 Ding S.L....Davidson B.L. (Neurobiol. Dis. 2011)
    62. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    63. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    64. Genetic associations of variants in genes encoding HIV-dependency factors required for HIV-1 infection. (PubMed id 21083371)4 Chinn L.W....O'Brien S.J. (J. Infect. Dis. 2010)
    65. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    66. Network organization of the human autophagy system. (PubMed id 20562859)1 Behrends C....Harper J.W. (Nature 2010)
    67. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)
    68. S. pombe btn1, the orthologue of the Batten disease gene CLN3, is required for vacuole protein sorting of Cpy1p and Golgi exit of Vps10p. (PubMed id 19299465)1 Codlin S. and Mole S.E. (J. Cell. Sci. 2009)
    69. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (Sci. Signal. 2009)
    70. Identification of host proteins required for HIV infection through a functional genomic screen. (PubMed id 18187620)1 Brass A.L....Elledge S.J. (Science 2008)
    71. Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976)2 Daub H.... Mann M. (Mol. Cell 2008)
    72. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    73. Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue. (PubMed id 17868323)1 Pohl S....Storch S. (J. Neurochem. 2007)
    74. Neuronal vulnerability of CLN3 deletion to calcium-induced cytotoxicity is mediated by calsenilin. (PubMed id 17189291)1 Chang J.W....Jung Y.K. (Hum. Mol. Genet. 2007)
    75. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    76. Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis. (PubMed id 16714284)1 Cao Y....Cotman S.L. (J. Biol. Chem. 2006)
    77. Defective lysosomal arginine transport in juvenile Batten disease. (PubMed id 16251196)1 Ramirez-Montealegre D. and Pearce D.A. (Hum. Mol. Genet. 2005)
    78. AP-1 and AP-3 facilitate lysosomal targeting of Batten disease protein CLN3 via its dileucine motif. (PubMed id 15598649)1 KyttAolAo A....Luzio J.P. (J. Biol. Chem. 2005)
    79. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (Nature 2004)
    80. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (Genome Res. 2004)
    81. A galactosylceramide binding domain is involved in trafficking of CLN3 from Golgi to rafts via recycling endosomes. (PubMed id 15240864)1 Persaud-Sawin D.A....Boustany R.M. (Pediatr. Res. 2004)
    82. Large-scale characterization of HeLa cell nuclear phosphoproteins. (PubMed id 15302935)1 Beausoleil S.A.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    83. Characterization of Cln3p, the gene product responsible for juvenile neuronal ceroid lipofuscinosis, as a lysosomal integral membrane glycoprotein. (PubMed id 14622109)1 Ezaki J....Kominami E. (J. Neurochem. 2003)
    84. Membrane topology of CLN3, the protein underlying Batten disease. (PubMed id 12706816)1 Mao Q....Davidson B.L. (FEBS Lett. 2003)
    85. What are the requirements for lysosomal degradation of subunit c of mitochondrial ATPase? (PubMed id 12440525)1 Kominami A.E. (IUBMB Life 2002)
    86. Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins. (PubMed id 12125809)1 Vesa J. and Peltonen L. (Curr. Mol. Med. 2002)
    87. Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3. (PubMed id 12134079)1 Vesa J....Peltonen L. (Mol. Biol. Cell 2002)
    88. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    89. Diverse transcriptional initiation revealed by fine, large-scale mapping of mRNA start sites. (PubMed id 11375929)1 Suzuki Y....Sugano S. (EMBO Rep. 2001)
    90. Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs). (PubMed id 11722572)1 Holopainen J.M....JAorvelAo I. (Eur. J. Biochem. 2001)
    91. Batten's disease: clues to neuronal protein catabolism in lysosomes. (PubMed id 10740217)1 Dawson G. and Cho S. (J. Neurosci. Res. 2000)
    92. Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL) (PubMed id 10332042)1 JAorvelAo I....Jalanko A. (Hum. Mol. Genet. 1999)
    93. A model for Batten disease protein CLN3: functional implications from homology and mutations. (PubMed id 8980123)1 Janes R.W....Wallace B.A. (FEBS Lett. 1996)
    94. Rapid diagnostic test for the major mutation underlying Batten disease. (PubMed id 9004140)1 JAorvelAo I....SyvAonen A.C. (J. Med. Genet. 1996)
    95. Genetic mapping of the Batten disease locus (CLN3) to the interval D16S288-D16S383 by analysis of haplotypes and allelic association. (PubMed id 7806237)4 Mitchison H.M....D'Arigo K. (Genomics 1994)
    96. Neuronal Ceroid-Lipofuscinoses (PubMed id 20301601)1 Pagon R.A....Stephens K. (1993)
    97. Characterization of two new members of the pregnancy-specific beta 1- glycoprotein family from the myeloid cell line KG-1 and suggestion of two distinct classes of transcription unit. (PubMed id 2271648)1 Barnett T.R.... Elting J.J. (Biochemistry 1990)
    98. CLN3 disease process: missense point mutations and protein depletion in vitro. (PubMed id 11589014)9 Golabek A.A....Wisniewski K.E. (Eur. J. Paediatr. Neurol. 2001)
    99. Intracellular trafficking of CLN3, the protein underlying the childhood neurodegenerative disease, Batten disease. (PubMed id 14644441)9 Mao Q....Davidson B.L. (FEBS Lett. 2003)
    100. Localization and processing of CLN3, the protein associated to Batten disease: where is it and what does it do? (PubMed id 10658181)9 Pearce D.A. (J. Neurosci. Res. 2000)
    101. Splicing variants in sheep CLN3, the gene underlying juvenile neuronal ceroid lipofuscinosis. (PubMed id 10356317)9 Oswald M.J....Damak S. (Mol. Genet. Metab. 1999)
    102. Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes. (PubMed id 7887419)9 Mitchison H.M....JAorvelAo I.E. (Am. J. Hum. Genet. 1995)
    103. Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype. (PubMed id 16435200)9 de Voer G....Taschner P.E. (J. Inherit. Metab. Dis. 2005)
    104. Evidence for phosphorylation of CLN3 protein associated with Batten disease. (PubMed id 9878558)9 Michalewski M.P....Wisniewski K.E. (Biochem. Biophys. Res. Commun. 1998)
    105. Analysis of CLN3-protein interactions using the yeast two-hybrid system. (PubMed id 11589015)9 Leung K.Y....Mole S.E. (Eur. J. Paediatr. Neurol. 2001)
    106. Coding sequence and exon/intron organization of the canine CLN3 (Batten disease) gene and its exclusion as the locus for ceroid-lipofuscinosis in English setter dogs. (PubMed id 9590435)9 Shibuya H....Johnson G.S. (J. Neurosci. Res. 1998)
    107. Refined localization of the Batten disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits. (PubMed id 7668353)9 Mitchison H.M....Thompson A.D. (Am. J. Med. Genet. 1995)
    108. The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3. (PubMed id 19132115)9 Haines R.L....Mole S.E. (amp 2009)
    109. Neural and extraneural expression of the neuronal ceroid lipofuscinoses genes CLN1, CLN2, and CLN3: functional implications for CLN3. (PubMed id 11001812)9 Chattopadhyay S. and Pearce D.A. (Mol. Genet. Metab. 2000)
    110. Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene. (PubMed id 10916181)9 Eksandh L.B....AndrAcasson S. (Ophthalmic Genet. 2000)
    111. Mouse gene knockout models for the CLN2 and CLN3 forms of ceroid lipofuscinosis. (PubMed id 11588979)9 Katz M.L. and Johnson G.S. (Eur. J. Paediatr. Neurol. 2001)
    112. A mouse gene knockout model for juvenile ceroid-lipofuscinosis (Batten disease). (PubMed id 10440905)9 Katz M.L....Johnson G.S. (J. Neurosci. Res. 1999)
    113. Structure of the CLN3 gene and predicted structure, location and function of CLN3 protein. (PubMed id 9151311)9 Mitchison H.M....Mole S.E. (Neuropediatrics 1997)
    114. [From gene to disease; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis]. (PubMed id 15730038)9 Taschner P.E....van Diggelen O.P. (Ned Tijdschr Geneeskd 2005)
    115. Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected]. (PubMed id 10527801)9 Mitchison H.M....Nussbaum R.L. (Neurobiol. Dis. 1999)
    116. CLN3 defines a novel antiapoptotic pathway operative in neurodegeneration and mediated by ceramide. (PubMed id 10191118)9 Puranam K.L....Boustany R.M. (Mol. Genet. Metab. 1999)
    117. The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data. (PubMed id 18314010)9 Nugent T....Jones D.T. (FEBS Lett. 2008)
    118. Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population. (PubMed id 12796825)9 Teixeira C....Ribeiro M.G. (J. Neurol. 2003)
    119. Altered flurothyl seizure induction latency, phenotype, and subsequent mortality in a mouse model of juvenile neuronal ceroid lipofuscinosis/batten disease. (PubMed id 12366726)9 Kriscenski-Perry E....Pearce D.A. (Epilepsia 2002)
    120. Biochemistry of neuronal ceroid lipofuscinoses. (PubMed id 11332778)9 Junaid M.A. and Pullarkat R.K. (Adv. Genet. 2001)
    121. CLN-3 protein is expressed in the pancreatic somatostatin-secreting delta cells. (PubMed id 11589017)9 Boriack R.L. and Bennett M.J. (Eur. J. Paediatr. Neurol. 2001)
    122. Action of BTN1, the yeast orthologue of the gene mutated in Batten disease. (PubMed id 10319861)9 Pearce D.A....Sherman F. (Nat. Genet. 1999)
    123. Analysis of intracellular distribution and trafficking of the CLN3 protein in fusion with the green fluorescent protein in vitro. (PubMed id 10191113)9 Kida E....Wisniewski K.E. (Mol. Genet. Metab. 1999)
    124. Atypical late infantile and juvenile forms of neuronal ceroid lipofuscinosis and their diagnostic difficulties. (PubMed id 9377079)9 WiA9niewski K.E....Brown W.T. (Folia Neuropathol 1997)
    125. Application of chromosome 16 markers in the differential diagnosis of neuronal ceroid-lipofuscinosis. (PubMed id 7668359)9 Taschner P.E....Breuning M.H. (Am. J. Med. Genet. 1995)
    126. A 30-year follow-up of a neuronal ceroid lipofuscinosis patient with mutations in CLN3 and protracted disease course. (PubMed id 19135632)9 Aberg L....Autti T. (Pediatr. Neurol. 2009)
    127. Nitric oxide signaling is disrupted in the yeast model for Batten disease. (PubMed id 17475770)9 OsA^rio N.S....Rodrigues F. (Mol. Biol. Cell 2007)
    128. Homogeneous PCR nucleobase quenching assays to detect four mutations that cause neuronal ceroid lipofuscinosis: T75P and R151X in CLN1, and IVS5-1G&gt;C and R208X in CLN2. (PubMed id 16720047)9 Leman A.R....Rothberg P.G. (J. Neurosci. Methods 2006)
    129. Cell death pathways in juvenile Batten disease. (PubMed id 16151633)9 Persaud-Sawin D.A. and Boustany R.M. (Apoptosis 2005)
    130. Juvenile neuronal ceroid lipofuscinosis (Batten disease) CLN3 mutation (Chrom 16p11.2) with different phenotypes in a sibling pair and low intensity in vivo autofluorescence. (PubMed id 15162299)9 Mantel I....Moore A.T. (Klin Monbl Augenheilkd 2004)
    131. CLN3P, the Batten disease protein, localizes to membrane lipid rafts (detergent-resistant membranes). (PubMed id 15094366)9 Rakheja D....Bennett M.J. (Biochem. Biophys. Res. Commun. 2004)
    132. Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease. (PubMed id 15269304)9 Rothberg P.G....Pearce D.A. (J Mol Diagn 2004)
    133. The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease. (PubMed id 12025857)9 Weimer J.M....Pearce D.A. (Neuromolecular Med. 2002)
    134. Flupirtine blocks apoptosis in batten patient lymphoblasts and in human postmitotic CLN3- and CLN2-deficient neurons. (PubMed id 11921051)9 Dhar S....Boustany R.M. (Ann. Neurol. 2002)
    135. The neuronal ceroid-lipofuscinoses (Batten disease): a new class of lysosomal storage diseases. (PubMed id 10407785)9 Bennett M.J. and Hofmann S.L. (J. Inherit. Metab. Dis. 1999)
    136. Strategy for mutation detection in CLN3: characterisation of two Finnish mutations. (PubMed id 9151312)9 Munroe P.B....Mole S.E. (Neuropediatrics 1997)
    137. Phenol sulfotransferases: candidate genes for Batten disease. (PubMed id 7668357)9 Dooley T.P....Mole S.E. (Am. J. Med. Genet. 1995)
    138. Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins. (PubMed id 19941651)9 Lyly A....KyttAolAo A. (BMC Cell Biol. 2009)
    139. Differentiation of primary human submandibular gland cells cultured on basement membrane extract. (PubMed id 18721074)9 SzlA!vik V....VA!g J. (Tissue Eng Part A 2008)
    140. btn1 affects endocytosis, polarization of sterol-rich membrane domains and polarized growth in Schizosaccharomyces pombe. (PubMed id 18346214)9 Codlin S....Mole S.E. (Traffic 2008)
    141. The function of CLN3P, the Batten disease protein. (PubMed id 18688960)9 Rakheja D....Bennett M.J. (Mol. Genet. Metab. 2008)
    142. Attenuation of AMPA receptor activity improves motor skills in a mouse model of juvenile Batten disease. (PubMed id 17963751)9 KovA!cs A.D. and Pearce D.A. (Exp. Neurol. 2008)
    143. Analysis of NCL Proteins from an Evolutionary Standpoint. (PubMed id 19440452)9 Muzaffar N.E. and Pearce D.A. (Curr. Genomics 2008)
    144. Moving towards therapies for juvenile Batten disease? (PubMed id 18400221)9 Cooper J.D. (Exp. Neurol. 2008)
    145. Neuronal ceroid lipofuscinosis: a common pathway? (PubMed id 17237713)9 Persaud-Sawin D.A....Boustany R.M. (Pediatr. Res. 2007)
    146. Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis. (PubMed id 17023146)9 Cooper J.D....Mitchison H.M. (Biochim. Biophys. Acta 2006)
    147. Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency. (PubMed id 16814585)9 Bessa C.... Ribeiro M.G. (Mol. Genet. Metab. 2006)
    148. Selectively increased sensitivity of cerebellar granule cells to AMPA receptor-mediated excitotoxicity in a mouse model of Batten disease. (PubMed id 16483786)9 KovA!cs A.D....Pearce D.A. (Neurobiol. Dis. 2006)
    149. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. (PubMed id 15965709)9 Mole S.E....Goebel H.H. (Neurogenetics 2005)
    150. CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein. (PubMed id 15265688)9 Mole S.E....Cutler D.F. (Exp. Cell Res. 2004)
    151. Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis. (PubMed id 12815591)9 Sharp J.D....Mole S.E. (Hum. Mutat. 2003)
    152. An Australasian diagnostic service for the neuronal ceroid lipofuscinoses. (PubMed id 11588997)9 Muller V.J....Fietz M.J. (Eur. J. Paediatr. Neurol. 2001)
    153. Neuronal ceroid lipofuscinoses: classification and diagnosis. (PubMed id 11332767)9 Wisniewski K.E....Zhong N. (Adv. Genet. 2001)
    154. Neuronal ceroid lipofuscinoses and possible pathogenic mechanism. (PubMed id 11001811)9 Zhong N. (Mol. Genet. Metab. 2000)
    155. Heterogeneity of late-infantile neuronal ceroid lipofuscinosis. (PubMed id 11339651)9 Zhong N.... Brown W.T. (Genet. Med. 2000)
    156. Neuronal ceroid lipofuscinoses: pathological features of bioptic specimens from 28 patients. (PubMed id 11073230)9 Simonati A. and Rizzuto N. (Neurol. Sci. 2000)
    157. Molecular diagnosis of and carrier screening for the neuronal ceroid lipofuscinoses. (PubMed id 11142754)9 Zhong N.A....Brown W.T. (Genet. Test. 2000)
    158. Histopathologic and immunocytochemical analysis of the retina and ocular tissues in Batten disease. (PubMed id 10964839)9 Bensaoula T....Milam A.H. (Ophthalmology 2000)
    159. A murine model for juvenile NCL: gene targeting of mouse Cln3. (PubMed id 10191119)9 Greene N.D....Mitchison H.M. (Mol. Genet. Metab. 1999)
    160. Reevaluation of neuronal ceroid lipofuscinoses: atypical juvenile onset may be the result of CLN2 mutations. (PubMed id 10191110)9 Wisniewski K.E....Zhong N. (Mol. Genet. Metab. 1999)
    161. Molecular genetics of the neuronal ceroid lipofuscinoses. (PubMed id 10446748)9 Mole S. and Gardiner M. (Epilepsia 1999)
    162. Genetic markers linked to neuronal ceroid lipofuscinosis in English setter dogs. (PubMed id 9800325)9 Lingaas F....Dolf G. (Anim. Genet. 1998)
    163. Studies of atypical JNCL suggest overlapping with other NCL forms. (PubMed id 9492089)9 Wisniewski K.E....Brown W.T. (Pediatr. Neurol. 1998)
    164. Human cyclin K, a novel RNA polymerase II-associated cyclin possessing both carboxy-terminal domain kinase and Cdk-activating kinase activity. (PubMed id 9632813)9 Edwards M.C.... Elledge S.J. (Mol. Cell. Biol. 1998)
    165. Histone octamer function in vivo: mutations in the dimer-tetramer interfaces disrupt both gene activation and repression. (PubMed id 9171362)9 Santisteban M.S....Smith M.M. (EMBO J. 1997)
    166. Clinical and magnetic resonance imaging findings in Batten disease: analysis of the major mutation (1.02-kb deletion). (PubMed id 9392580)9 JAorvelAo I....Santavuori P. (Ann. Neurol. 1997)
    167. Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23. (PubMed id 9097964)9 Sharp J.D....Williams R.E. (Hum. Mol. Genet. 1997)
    168. Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR. (PubMed id 9391897)9 Taschner P.E....Breuning M.H. (J. Med. Genet. 1997)
    169. [Neuronal ceroid lipofuscinosis. An unknown overload disease]. (PubMed id 8692764)9 Echaniz-Laguna A....Warter J.M. (Presse Med 1996)

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    Entrez Gene: 1201 HGNC: 2074 AceView: CLN3 Ensembl:ENSG00000188603 euGenes: HUgn1201
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