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DNAJC5 Gene

protein-coding   GIFtS: 63
GCID: GC20P062526

DnaJ (Hsp40) Homolog, Subfamily C, Member 5

(Previous names: ceroid-lipofuscinosis, neuronal 4 (Kufs disease))
(Previous symbol: CLN4)
Microbiology & Infectious 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)
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Aliases
DnaJ (Hsp40) Homolog, Subfamily C, Member 51 2     Ceroid-Lipofuscinosis, Neuronal 4 (Kufs Disease)1
CSP2 3 5     NCL2
CLN41 2     Cysteine String Protein Alpha2
CLN4B2 5     DnaJ Homolog Subfamily C Member 52
DNAJC5A2 5     Cysteine String Protein3

External Ids:    HGNC: 162351   Entrez Gene: 803312   Ensembl: ENSG000001011527   OMIM: 6112035   UniProtKB: Q9H3Z43   

Export aliases for DNAJC5 gene to outside databases

Previous GC identifers: GC20P062404 GC20P063238 GC20P063252 GC20P063277 GC20P061996 GC20P059293


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DNAJC5 Gene:
This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the
ATPase activity of 70 kDa heat shock proteins. The encoded protein plays a role in membrane trafficking and
protein folding, and has been shown to have anti-neurodegenerative properties. The encoded protein is known to
play a role in cystic fibrosis and Huntington's disease. A pseudogene of this gene is located on the short arm of
chromosome 8. (provided by RefSeq, Nov 2010)

GeneCards Summary for DNAJC5 Gene:
DNAJC5 (DnaJ (Hsp40) homolog, subfamily C, member 5) is a protein-coding gene. Diseases associated with DNAJC5 include ceroid lipofuscinosis, neuronal, 4, parry type, and adult neuronal ceroid lipofuscinosis. GO annotations related to this gene include ATP-dependent protein binding and glycoprotein binding. An important paralog of this gene is DNAJB4.

UniProtKB/Swiss-Prot: DNJC5_HUMAN, Q9H3Z4
Function: May have an important role in presynaptic function. May be involved in calcium-dependent
neurotransmitter release at nerve endings (By similarity)

Gene Wiki entry for DNAJC5 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000020.11  NC_018931.2  NT_011362.11  
Regulatory elements:
   Regulatory transcription factor binding sites in the DNAJC5 gene promoter:
         p53   Pax-2   FOXD3   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   Pax-2a   POU6F1 (c2)   POU3F2   Pax-2b   SEF-1 (1)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDNAJC5 promoter sequence
   Search Chromatin IP Primers for DNAJC5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DNAJC5


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

Entrez Gene cytogenetic band: 20q13.33   Ensembl cytogenetic band:  20q13.33   HGNC cytogenetic band: 20q13.33

DNAJC5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DNAJC5 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P062526:  view genomic region     (about GC identifiers)

Start:
62,526,455 bp from pter      End:
62,567,384 bp from pter
Size:
40,930 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DNJC5_HUMAN, Q9H3Z4 (See protein sequence)
Recommended Name: DnaJ homolog subfamily C member 5  
Size: 198 amino acids; 22149 Da
Subunit: Homodimer (Probable). Interacts with the chaperone complex consisting of HSC70 and SGTA (By similarity)
Secondary accessions: A8K0M0 B3KY68 E1P5G8 Q9H3Z5 Q9H7H2
Alternative splicing: 2 isoforms:  Q9H3Z4-1   Q9H3Z4-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DNAJC5: NX_Q9H3Z4

Explore proteomics data for DNAJC5 at MOPED

Post-translational modifications: 

  • Fatty acylated. Heavily palmitoylated in the cysteine string motif (By similarity)1
  • Ubiquitination2 at Lys41, Lys58
  • Modification sites at PhosphoSitePlus

  • See DNAJC5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_079495.1  
    ENSEMBL proteins: 
     ENSP00000354111   ENSP00000434744   ENSP00000358927  
    Reactome Protein details: Q9H3Z4

    DNAJC5 Human Recombinant Protein Products:

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    Novus Biologicals DNAJC5 Protein
    Novus Biologicals DNAJC5 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DNAJC5

    DNAJC5 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of DNAJC5
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    DNAJC5 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for DNAJC5
    Cloud-Clone Corp. CLIAs for DNAJC5


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    DNAJ: Heat shock proteins / DNAJ (HSP40)

    2 InterPro protein domains:
     IPR001623 DnaJ_domain
     IPR018253 DnaJ_domain_CS

    Graphical View of Domain Structure for InterPro Entry Q9H3Z4

    ProtoNet protein and cluster: Q9H3Z4

    UniProtKB/Swiss-Prot: DNJC5_HUMAN, Q9H3Z4
    Similarity: Contains 1 J domain


    DNAJC5 for domains           About GeneDecksing


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

         UniProtKB/Swiss-Prot Summary: DNJC5_HUMAN, Q9H3Z4
    Function: May have an important role in presynaptic function. May be involved in calcium-dependent
    neurotransmitter release at nerve endings (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001948glycoprotein binding IEA--
    GO:0043008ATP-dependent protein binding IEA--
         
    DNAJC5 for ontologies           About GeneDecksing


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 1 allele(MGI details for Dnajc5):
     behavior/neurological  endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  homeostasis/metabolism 
     mortality/aging  muscle  nervous system  reproductive system  vision/eye 

    DNAJC5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Dnajc5tm1Sud for DNAJC5

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DNAJC5
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DNAJC5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DNAJC5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DNAJC5

    miRNA
    Products:
        
    miRTarBase miRNAs that target DNAJC5:
    hsa-mir-34a-5p (MIRT047388), hsa-mir-31-5p (MIRT049882), hsa-mir-23b-3p (MIRT046280), hsa-mir-93-3p (MIRT038873), hsa-mir-7-5p (MIRT025831), hsa-mir-15b-5p (MIRT046449)

    Block miRNA regulation of human, mouse, rat DNAJC5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DNAJC5 (see all 35):
    hsa-miR-429 hsa-miR-139-5p hsa-miR-570 hsa-miR-889 hsa-miR-200b hsa-miR-192* hsa-miR-509-3-5p hsa-miR-181b
    SwitchGear 3'UTR luciferase reporter plasmidDNAJC5 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DNAJC5

    Gene Editing
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DNAJC5 (NM_025219)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DNAJC5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DNAJC5

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAJC5


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DNJC5_HUMAN, Q9H3Z4: Membrane; Lipid-anchor (By similarity). Melanosome. Cell membrane. Note=Identified by mass
    spectrometry in melanosome fractions from stage I to stage IV
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol3
    golgi apparatus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005765lysosomal membrane IDA17897319
    GO:0005886plasma membrane TAS--
    GO:0008021synaptic vesicle IEA--
    GO:0042470melanosome IEA--

    DNAJC5 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DNAJC5 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    2Regulation of degradation of deltaF508 CFTR in CF
    Regulation of degradation of wt CFTR0.59
    Regulation of degradation of deltaF508 CFTR in CF0.59
    3Neurotransmitter Release Cycle
    Neurotransmitter Release Cycle0.32
    GABA synthesis, release, reuptake and degradation0.00
    4Mechanisms of CFTR activation by S nitrosoglutathione normal and CF
    Mechanisms of CFTR activation by S nitrosoglutathione normal and CF 0.37
    5Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 GeneGo (Thomson Reuters) Pathways for DNAJC5
        Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF)
    Regulation of degradation of deltaF508 CFTR in CF
    Regulation of degradation of wt-CFTR

    1 Reactome Pathway for DNAJC5
        GABA synthesis, release, reuptake and degradation


    1 Kegg Pathway  (Kegg details for DNAJC5):
        Protein processing in endoplasmic reticulum


    DNAJC5 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DNAJC5: 
              Hypoxia Signaling Pathway in human mouse rat
              Cellular Stress Responses in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Heat Shock Proteins & Chaperones in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for DNAJC5

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

    Selected Interacting proteins for DNAJC5 (Q9H3Z43 ENSP000003541114) via UniProtKB, MINT, STRING, and/or I2D (see all 86)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CFTRP135693, ENSP000000030844I2D: score=4 STRING: ENSP00000003084
    VAMP7P518093, ENSP000002864484I2D: score=2 STRING: ENSP00000286448
    PRKACAP176123, ENSP000003095914I2D: score=1 STRING: ENSP00000309591
    VAMP2P630273, ENSP000003142144I2D: score=1 STRING: ENSP00000314214
    SGTAO437653, ENSP000002215664I2D: score=1 STRING: ENSP00000221566
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007268synaptic transmission TAS--
    GO:0007269neurotransmitter secretion TAS--
    GO:0008219cell death IEA--
    GO:0043524negative regulation of neuron apoptotic process IEA--

    DNAJC5 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for DNAJC5 (DNJC5)

    1 HMDB Compound for DNAJC5    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    5 Novoseek inferred chemical compound relationships for DNAJC5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    csp-1 94.5 2 15610015 (1), 11148145 (1)
    csp-2 87.6 3 10194413 (1), 11148145 (1)
    cysteine 69.8 21 14570907 (2), 9662647 (2), 10662817 (2), 11790807 (1) (see all 15)
    calcium 36.1 34 15745946 (4), 10215934 (4), 14570907 (3), 9547232 (3) (see all 12)
    palmitate 27.4 2 9761715 (1)



    DNAJC5 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DNAJC5 gene: 
    NM_025219.2  

    Unigene Cluster for DNAJC5:

    DnaJ (Hsp40) homolog, subfamily C, member 5
    Hs.164419  [show with all ESTs]
    Unigene Representative Sequence: NM_025219
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000360864(uc002yhf.3) ENST00000470551(uc002yhh.3) ENST00000369911

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Block miRNA regulation of human, mouse, rat DNAJC5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DNAJC5 (see all 35):
    hsa-miR-429 hsa-miR-139-5p hsa-miR-570 hsa-miR-889 hsa-miR-200b hsa-miR-192* hsa-miR-509-3-5p hsa-miR-181b
    SwitchGear 3'UTR luciferase reporter plasmidDNAJC5 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: DNAJC5 (NM_025219)
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      QuantiFast Probe-based Assays in human, mouse, rat DNAJC5

    Additional mRNA sequence: 

    AK023132.1 AK074041.1 AK128776.1 AK289585.1 AL137301.1 BC009922.2 BC028570.2 BC053642.1 
    CR627461.1 

    17 DOTS entries:

    DT.91772553  DT.100784624  DT.70100251  DT.101962587  DT.97835319  DT.91772550  DT.120803981  DT.100784625 
    DT.100784628  DT.100812187  DT.120804003  DT.95114287  DT.100812186  DT.120804082  DT.91986389  DT.95135261 
    DT.95135323 

    Selected AceView cDNA sequences (see all 426):

    BM549373 BU741450 F01724 AI005000 BU541975 BX280002 BM987601 BM727154 
    BQ437922 AA670426 BQ231396 T32966 BQ887170 BM460560 AI364675 AA570641 
    CB216260 T16439 BM142315 AK023132 BQ685657 CK826146 CR607484 AI453617 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for DNAJC5    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b
    SP1:                    -                                   -               
    SP2:              -     -                                                   
    SP3:                    -                                                   
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for DNAJC5

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DNAJC5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGATCTCCG
    DNAJC5 Expression
    About this image

    DNAJC5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DNAJC5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.164419

    UniProtKB/Swiss-Prot: DNJC5_HUMAN, Q9H3Z4
    Tissue specificity: Expressed in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain and heart

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DNAJC5: 
              Hypoxia Signaling Pathway in human mouse rat
              Cellular Stress Responses in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Heat Shock Proteins & Chaperones in human mouse rat

    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DNAJC5
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAJC5

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

    Orthologs for DNAJC5 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dnajc51 , 5 DnaJ (Hsp40) homolog, subfamily C, member 51, 5 88.22(n)1
    99.49(a)1
      2 (103.63 cM)5
    130021  NM_016775.31  NP_058055.11 
     1815204855 
    chicken
    (Gallus gallus)
    Aves DNAJC51 DnaJ (Hsp40) homolog, subfamily C, member 5 80.98(n)
    95.45(a)
      419256  NM_001278008.1  NP_001264937.1 
    lizard
    (Anolis carolinensis)
    Reptilia DNAJC56
    DnaJ (Hsp40) homolog, subfamily C, member 5
    95(a)
    1 ↔ 1
    4(156152262-156234090)
    zebrafish
    (Danio rerio)
    Actinopterygii dnajc5aa1 DnaJ (Hsp40) homolog, subfamily C, member 5aa 76.07(n)
    86.15(a)
      386768  NM_001002464.1  NP_001002464.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Csp1 , 3 exocytosis chaperone3
    Cysteine string protein1
    77(a)3
    67.92(n)1
    74.53(a)1
      404591  NM_079489.31  NP_524213.11 
    worm
    (Caenorhabditis elegans)
    Secernentea dnj-146
    Protein DNJ-14, isoform a (dnj-14) mRNA, complete ...
    39(a)
    1 → many
    X(4709826-4711744) WBGene00001032
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CWC23(YGL128C)4 Component of a complex containing Cef1p, putatively more   --   7(270144-269293) 852749  NP_011387.2 


    ENSEMBL Gene Tree for DNAJC5 (if available)
    TreeFam Gene Tree for DNAJC5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DNAJC5 gene
    DNAJB42  DNAJB52  DNAJB132  DNAJB22  DNAJB92  DNAJB62  DNAJB12  DNAJB72  
    DNAJC5B2  DNAJC5G2  DNAJB82  
    5 SIMAP similar genes for DNAJC5 using alignment to 1 protein entry:     DNJC5_HUMAN:
    DKFZp761N1221    FLJ00095    DNAJC5B    DNAJB6    DNAJC5G

    DNAJC5 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for DNAJC5
    PGOHUM00000257183


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DNAJC5 (see all 995)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0665554
    Ceroid lipofuscinosis, neuronal, 4B (CLN4B)4--see VAR_0665552 L R mis40--------
    rs1406770051,2
    --62524579(+) TGATCC/TGCCCA 1 -- us2k10--------
    rs1447297751,2
    --62524594(+) GGCCTC/GCCAAA 1 -- us2k10--------
    rs733273221,2
    C,F--62524721(+) ATCATG/ACATCG 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1997431841,2
    --62524949(+) CAATT-/AAAAAA 1 -- us2k10--------
    rs60625701,2
    C,F--62524957(+) AAAAAT/ATTTTT 1 -- us2k17Minor allele frequency- A:0.17WA NA CSA EA 366
    rs1399684911,2
    --62524985(+) CTCACA/TATGTT 1 -- us2k10--------
    rs1883399641,2
    --62525081(+) GGTCCC/TGTTGT 1 -- us2k10--------
    rs1429413381,2
    --62525103(+) TAACTA/GTATTA 1 -- us2k10--------
    rs731517531,2
    --62525156(+) TCTCGC/TTATTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for DNAJC5 (62526455 - 62567384 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DNAJC5 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509784CNV Insertion20534489
    nsv913250CNV Loss21882294
    dgv4656n71CNV Loss21882294
    dgv4653n71CNV Loss21882294
    nsv828805CNV Loss20364138
    nsv913190CNV Loss21882294
    dgv4648n71CNV Loss21882294
    nsv913270CNV Loss21882294
    dgv4654n71CNV Loss21882294
    dgv4655n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): DNAJC5
    Locus Specific Mutation Databases (LSDB): DNAJC5

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DNAJC5
    DNA2.0 Custom Variant and Variant Library Synthesis for DNAJC5

    (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.)
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    OMIM gene information: 611203   
    OMIM disorders: 162350  
    UniProtKB/Swiss-Prot: DNJC5_HUMAN, Q9H3Z4
  • Ceroid lipofuscinosis, neuronal, 4B (CLN4B) [MIM:162350]: 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. CLN4B has no visual involvement and is characterized by seizures and other
    neurologic symptoms. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 16 diseases for DNAJC5:    About MalaCards
    ceroid lipofuscinosis, neuronal, 4, parry type    adult neuronal ceroid lipofuscinosis    cln4 disease    neuronal ceroid lipofuscinosis
    cerebral atrophy    cystic fibrosis    neuronal ceroid-lipofuscinoses    huntington's disease
    lysosomal storage disease    malaria    neuronitis    dementia
    cerebritis    hypoxia    multiple myeloma    myeloma


    DNAJC5 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    4 Novoseek inferred disease relationships for DNAJC5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cystic fibrosis 34.4 3 16469739 (1), 19098309 (1)
    shock 33.2 4 14570907 (1), 18410159 (1), 16055447 (1)
    paralysis 28.5 3 7946336 (1), 8310297 (1), 11935231 (1)
    malaria 23 1 16871327 (1)


    Export disorders for DNAJC5 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 DNAJC5 gene, integrated from 10 sources (see all 91):
    (articles sorted by number of sources associating them with DNAJC5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Widespread expression of human cysteine string proteins. (PubMed id 8764987)1, 2, 9 Coppola T. and Gundersen C. (FEBS Lett. 1996)
    2. Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease. (PubMed id 22978711)1, 2 Cadieux-Dion M.... Cossette P. (Clin. Genet. 2013)
    3. Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families. (PubMed id 22235333)1, 2 Velinov M....ZA1chner S. (PLoS ONE 2012)
    4. Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis. (PubMed id 22902780)1, 2 Greaves J....Chamberlain L.H. (J. Biol. Chem. 2012)
    5. Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. (PubMed id 22073189)1, 2 Benitez B.A....Cruchaga C. (PLoS ONE 2011)
    6. Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. (PubMed id 21820099)1, 2 Noskova L.... Kmoch S. (Am. J. Hum. Genet. 2011)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. Identification and characterization of phosphorylated proteins in the human pituitary. (PubMed id 14997482)1, 2 Giorgianni F.... Desiderio D.M. (Proteomics 2004)
    9. 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)
    10. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 80331 HGNC: 16235 AceView: DNAJC5 Ensembl:ENSG00000101152 euGenes: HUgn80331
    ECgene: DNAJC5 Kegg: 80331 H-InvDB: DNAJC5

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for DNAJC5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DNAJC5 gene:
    Search GeneIP for patents involving DNAJC5

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



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