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

DNAJB6 Gene

protein-coding   GIFtS: 59
GCID: GC07P157128

DnaJ (Hsp40) Homolog, Subfamily B, Member 6

  See related diseases
at  

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

Aliases
DnaJ (Hsp40) Homolog, Subfamily B, Member 61 2     DJ42
Heat Shock Protein J22 3     DnaJ2
HHDJ12 3     LGMD1E2
HSJ-22 3     DnaJ Homolog Subfamily B Member 62
HSJ22 3     DnaJ-Like 2 Protein2
MRJ2 3     MSJ13
MSJ-12 3     

External Ids:    HGNC: 148881   Entrez Gene: 100492   Ensembl: ENSG000001059937   OMIM: 6113325   UniProtKB: O751903   

Export aliases for DNAJB6 gene to outside databases

Previous GC identifers: GC07P155359 GC07P156431 GC07P156546 GC07P156629 GC07P156822 GC07P150859


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

Entrez Gene summary for DNAJB6 Gene:
This gene encodes a member of the DNAJ protein family. DNAJ family members are characterized by a highly conserved
amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones
involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly.
This family member may also play a role in polyglutamine aggregation in specific neurons. Alternative splicing of
this gene results in multiple transcript variants; however, not all variants have been fully described. (provided
by RefSeq, Jul 2008)

GeneCards Summary for DNAJB6 Gene: 
DNAJB6 (DnaJ (Hsp40) homolog, subfamily B, member 6) is a protein-coding gene. Diseases associated with DNAJB6 include limb-girdle muscular dystrophy type 1e, and dnajb6-related myofibrillar myopathy, and among its related super-pathways are Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF). GO annotations related to this gene include unfolded protein binding and chaperone binding. An important paralog of this gene is DNAJB4.

UniProtKB/Swiss-Prot: DNJB6_HUMAN, O75190
Function: Plays an indispensable role in the organization of KRT8/KRT18 filaments. Acts as an endogenous molecular
chaperone for neuronal proteins including huntingtin. Suppresses aggregation and toxicity of
polyglutamine-containing, aggregation-prone proteins. Isoform B but not isoform A inhibits huntingtin
aggregation. Has a stimulatory effect on the ATPase activity of HSP70 in a dose-dependent and time-dependent
manner and hence acts as a co-chaperone of HSP70. Also reduces cellular toxicity and caspase-3 activity

Gene Wiki entry for DNAJB6 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007741.14  NC_018918.2  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DNAJB6 gene promoter:
         N-Myc   FAC1   Bach2   FOXJ2 (long isoform)   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 7): DNAJB6 promoter sequence
   Search SABiosciences Chromatin IP Primers for DNAJB6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DNAJB6


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

Entrez Gene cytogenetic band: 7q36.3   Ensembl cytogenetic band:  7q36.3   HGNC cytogenetic band: 7q36.3

DNAJB6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DNAJB6 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P157128:  view genomic region     (about GC identifiers)

Start:
157,128,075 bp from pter      End:
157,210,133 bp from pter
Size:
82,059 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 156,359,018-156,439,320     

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

UniProtKB/Swiss-Prot: DNJB6_HUMAN, O75190 (See protein sequence)
Recommended Name: DnaJ homolog subfamily B member 6  
Size: 326 amino acids; 36087 Da
Subunit: Homooligomer. Interacts with BAG3, HSPB8 and STUB1. Interacts with ALKBH1 (By similarity). Interacts with
HSP70, KRT18 and PTTG. Isoform B interacts with histone deacetylases HDAC4, HDAC6, and SIRT2, HDAC activity is
required for antiaggregation
Subcellular location: Cytoplasm, perinuclear region. Nucleus. Cytoplasm, myofibril, sarcomere, Z line
Sequence caution: Sequence=AAD16010.1; Type=Frameshift; Positions=197; Sequence=BAD93096.1; Type=Erroneous
initiation;
Secondary accessions: A4D232 A8K7D8 O95806 Q53EN8 Q59EF2 Q6FIC8 Q75MA2 Q9UIK6
Alternative splicing: 3 isoforms:  O75190-1   O75190-2   O75190-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DNAJB6: NX_O75190

Explore proteomics data for DNAJB6 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75190

  • DNAJB6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DNAJB6 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_005485.1  NP_490647.1  

    ENSEMBL proteins: 
     ENSP00000410643   ENSP00000397556   ENSP00000262177   ENSP00000400665   ENSP00000396267  
     ENSP00000415201   ENSP00000391690   ENSP00000403407   ENSP00000396240   ENSP00000389599  
     ENSP00000402270  

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    ProSpec Recombinant Protein for DNAJB6
    Cloud-Clone Corp. Proteins for DNAJB6 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0030018Z disc IDA--
    GO:0048471perinuclear region of cytoplasm IDA10954706

    DNAJB6 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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 O75190

    ProtoNet protein and cluster: O75190

    UniProtKB/Swiss-Prot: DNJB6_HUMAN, O75190
    Domain: The antiaggregation activity of isoform B resides in the serine-rich region and the C-terminus
    Similarity: Contains 1 J domain


    DNAJB6 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DNJB6_HUMAN, O75190
    Function: Plays an indispensable role in the organization of KRT8/KRT18 filaments. Acts as an endogenous molecular
    chaperone for neuronal proteins including huntingtin. Suppresses aggregation and toxicity of
    polyglutamine-containing, aggregation-prone proteins. Isoform B but not isoform A inhibits huntingtin
    aggregation. Has a stimulatory effect on the ATPase activity of HSP70 in a dose-dependent and time-dependent
    manner and hence acts as a co-chaperone of HSP70. Also reduces cellular toxicity and caspase-3 activity

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001671ATPase activator activity IDA11896048
    GO:0003677DNA binding IEA--
    GO:0005515protein binding IPI10954706
    GO:0031072heat shock protein binding IDA10954706
    GO:0051087chaperone binding IDA11896048
         
    DNAJB6 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for DNAJB6:
     Decreased viability  Increased G1 DNA content 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Dnajb6):
     embryogenesis  growth/size  mortality/aging 

    DNAJB6 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Dnajb6tm1(KOMP)Vlcg for DNAJB6

       inGenious Targeting Laboratory - Custom generated mouse model solutions for DNAJB6 
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    SwitchGear 3'UTR luciferase reporter plasmidDNAJB6 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for DNAJB6 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1CFTR folding and maturation (norm and CF)
    CFTR folding and maturation (norm and CF)0.37
    Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF)0.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 GeneGo (Thomson Reuters) Pathways for DNAJB6
        Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF)
    CFTR folding and maturation (norm and CF)



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DNAJB6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    5/38 Interacting proteins for DNAJB6 (O751901, 2, 3 ENSP000002621774) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KRT18P057831, 3, ENSP000003734874EBI-1053164,EBI-297888 I2D: score=3 STRING: ENSP00000373487
    BRMS1Q9HCU91, 3, ENSP000003960524EBI-1053164,EBI-714781 I2D: score=2 STRING: ENSP00000396052
    MYCP011063, ENSP000003672074I2D: score=3 STRING: ENSP00000367207
    HDAC4P565243, ENSP000002646064I2D: score=2 STRING: ENSP00000264606
    ALKBH1Q136863, ENSP000002164894I2D: score=1 STRING: ENSP00000216489
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006457protein folding IDA11896048
    GO:0006986response to unfolded protein NAS--
    GO:0032781positive regulation of ATPase activity IDA11896048
    GO:0034504protein localization to nucleus IEA--
    GO:0043154negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA11896048

    DNAJB6 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for DNAJB6 (DNJB6)

    Search CenterWatch for drugs/clinical trials and news about DNAJB6 / DNJB6

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DNAJB6 gene (2 alternative transcripts): 
    NM_005494.2  NM_058246.3  

    Unigene Cluster for DNAJB6:

    DnaJ (Hsp40) homolog, subfamily B, member 6
    Hs.490745  [show with all ESTs]
    Unigene Representative Sequence: AL832124
    18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000441561 ENST00000429029(uc003wnj.3 uc010lqt.3) ENST00000262177(uc003wnk.3 uc003wnl.3 uc011kvy.2 uc011kvz.2)
    ENST00000486083 ENST00000417758 ENST00000459889 ENST00000488001 ENST00000443280
    ENST00000441291 ENST00000437030 ENST00000412557 ENST00000453383 ENST00000439402
    ENST00000468928 ENST00000465908 ENST00000487480 ENST00000486247 ENST00000494267

    miRNA
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    8/32 QIAGEN miScript miRNA Assays for microRNAs that regulate DNAJB6 (see all 32):
    hsa-miR-323-3p hsa-miR-100* hsa-miR-106a hsa-miR-522 hsa-miR-501-3p hsa-miR-519a hsa-miR-340 hsa-miR-502-3p
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    Additional mRNA sequence: 

    AB014888.1 AB015798.1 AB015799.1 AF060703.1 AF075601.1 AF080569.1 AK055429.1 AK093837.1 
    AK124827.1 AK223601.1 AK291953.1 AK293025.1 AK297497.1 AK297796.1 AK297989.1 AK301152.1 
    AL136707.1 AL832124.1 BC000177.2 BC002446.2 BC018175.1 BC043270.1 BC110289.1 CR533498.1 
    EU075177.1 

    24/34 DOTS entries (see all 34):

    DT.92466495  DT.95317476  DT.92466515  DT.40270641  DT.100882506  DT.97862539  DT.92466518  DT.65288119 
    DT.100766886  DT.100810599  DT.100882514  DT.121056312  DT.121056429  DT.100882516  DT.120706651  DT.100672401 
    DT.100882518  DT.100882522  DT.121056410  DT.219916  DT.40133094  DT.100882511  DT.100882519  DT.120706645 

    24/781 AceView cDNA sequences (see all 781):

    F24891 AW450061 AI446650 BM979229 AI494004 CF552309 AI268921 BE884294 
    AA044053 AA570546 AA192766 BG035915 AW468979 BQ777509 AA074881 BM477492 
    BM828079 CR613849 BX364766 BE350251 BM838076 CB999926 BG059794 BU169648 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DNAJB6 expression in normal human tissues (normalized intensities)      DNAJB6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATGCTGGCA
    DNAJB6 Expression
    About this image


    DNAJB6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/11 selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Primary Oocyte Primary Follicle
             oocyte   
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             testis ; cells in seminiferus ducts   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Peripheral blood-derived hematopoietic stem cells
             lung ; macrophages   
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             bronchus ; respiratory epithelial cells   

    See DNAJB6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DNAJB6

    SOURCE GeneReport for Unigene cluster: Hs.490745

    UniProtKB/Swiss-Prot: DNJB6_HUMAN, O75190
    Tissue specificity: Widely expressed. Highest levels in testis and brain, and lower levels in heart, spleen,
    intestine, ovary, placenta, lung, kidney, pancreas, thymus, prostate, skeletal muscle, liver and leukocytes. In
    testis, expressed in germ cells in the earlier stages of differentiation pathway as well as in spermatids. In
    brain, expressed at a higher level in hippocampus and thalamus and a lower level in amygdala, substantia nigra,
    corpus callosum and caudate nucleus

        SABiosciences Expression via Pathway-Focused PCR Arrays including DNAJB6: 
              Cellular Stress Responses in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Heat Shock Proteins & Chaperones in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAJB6

    (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 DNAJB6 gene from 8/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dnajb61 , 5 DnaJ (Hsp40) homolog, subfamily B, member 61, 5 84.92(n)1
    85.23(a)1
      5 (15.27 cM)5
    239501  NM_001037940.41  NP_001033029.11 
     297356885 
    chicken
    (Gallus gallus)
    Aves DNAJB61 DnaJ (Hsp40) homolog, subfamily B, member 6 79.24(n)
    79.14(a)
      420448  NM_001012556.1  NP_001012574.1 
    lizard
    (Anolis carolinensis)
    Reptilia DNAJB66
    DnaJ (Hsp40) homolog, subfamily B, member 6
    82(a)
    1 ↔ 1
    6(6546721-6597122)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.91272 Xenopus laevis transcribed sequence with weak similarity more 74.19(n)    BX847463.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC049536.12   -- 74.4(n)   393275  BC049536.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mrj1 CG8448-PA 51.24(n)
    51.09(a)
      36797  NM_166154.2  NP_725543.1 
    worm
    (Caenorhabditis elegans)
    Secernentea dnj-241 Protein DNJ-24 46.01(n)
    46.01(a)
      175745  NM_065754.3  NP_498155.3 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SIS16
    Type II HSP40 co-chaperone that interacts with the...
    20(a)
    1 → many
    XIV(618507-619565)


    ENSEMBL Gene Tree for DNAJB6 (if available)
    TreeFam Gene Tree for DNAJB6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DNAJB6 gene
    DNAJB42  DNAJB52  DNAJB132  DNAJB22  DNAJB92  DNAJB12  DNAJB72  DNAJC5B2  
    DNAJC52  DNAJC5G2  DNAJB82  
    18/25 SIMAP similar genes for DNAJB6 using alignment to 12 protein entries:     DNJB6_HUMAN (see all proteins) (see all similar genes):
    DNAJC5    DNAJB3    DNAJB8    DNAJB7    DNAJC5B    DNAJA2
    DNAJA3    DNAJA4    DNAJC5G    DNAJB2    DNAJB4    DNAJC1
    DNAJC17    DNAJC10    DNAJC18    DNAJB5    DNAJC11    DNAJB12

    DNAJB6 for paralogs           About GeneDecksing


    5/7 Pseudogenes.org Pseudogenes for DNAJB6 (see all 7)
    PGOHUM00000244747 PGOHUM00000244779 PGOHUM00000240527 PGOHUM00000235348 PGOHUM00000235349


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2479 SNPs in DNAJB6 are shown (see all 2479)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0678334
    Limb-girdle muscular dystrophy 1E (LGMD1E)4--see VAR_0678332 F I mis40--------
    VAR_0678354
    Limb-girdle muscular dystrophy 1E (LGMD1E)4--see VAR_0678352 P R mis40--------
    VAR_0678344
    Limb-girdle muscular dystrophy 1E (LGMD1E)4--see VAR_0678342 F L mis40--------
    rs616744821,2
    C--156417113(+) AAAAA-/AA/AAA
            
    CCCCA
    2 -- int1 cds10--------
    rs609353031,2
    C--156417957(+) TTTTT-/TGGAGA 1 -- int11Minor allele frequency- T:0.00NA 2
    rs342842531,2
    C--157131977(+) CACCT-/T/TTT 
            
    TTTTT
    4 -- int1 cds11NA 2
    rs571430941,2
    C--157133229(+) TGTGA-/TTTTTT 2 -- int11Minor allele frequency- T:0.00CSA 2
    rs113525171,2
    C--157135645(+) GTGGG-/TTTTTT 2 -- int12Minor allele frequency- T:0.25NA CSA 4
    rs588355211,2
    C--157142183(+) TTTTTT/-GAGTC 2 -- int11Minor allele frequency- -:0.00NA 2
    rs113830461,2
    C--157143392(+) TTTTTT/-GAGAT 2 -- int11Minor allele frequency- -:0.00NA 2

    HapMap Linkage Disequilibrium report for DNAJB6 (157128075 - 157210133 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/13 variations for DNAJB6 (see all 13):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2735677CNV Deletion23290073
    esv2032343CNV Deletion18987734
    esv2735676CNV Deletion23290073
    esv2676937CNV Deletion23128226
    esv2670753CNV Deletion23128226
    esv2735675CNV Deletion23290073
    esv1305277CNV Insertion17803354
    dgv7564n71CNV Loss21882294
    nsv889577CNV Loss21882294
    nsv889579CNV Loss21882294


    Human Gene Mutation Database (HGMD): DNAJB6
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing DNAJB6
    DNA2.0 Custom Variant and Variant Library Synthesis for DNAJB6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611332    OMIM disorders: --

    UniProtKB/Swiss-Prot: DNJB6_HUMAN, O75190
  • Limb-girdle muscular dystrophy 1E (LGMD1E) [MIM:603511]: An autosomal dominant myopathy characterized by
    adult onset of proximal muscle weakness, beginning in the hip girdle region and later progressing to the shoulder
    girdle region. Note=The disease is caused by mutations affecting the gene represented in this entry. There is
    evidence that LGMD1E is caused by dysfunction of isoform B (PubMed:22366786)

  • 11 diseases for DNAJB6:    About MalaCards
    limb-girdle muscular dystrophy type 1e    dnajb6-related myofibrillar myopathy    pathological gambling    limb-girdle muscular dystrophy
    muscular dystrophy    pituitary tumors    myopathy    cystic fibrosis
    neuronitis    breast cancer    prostatitis

    1 disease from the University of Copenhagen DISEASES database for DNAJB6:
    limb-girdle muscular dystrophy

    DNAJB6 for disorders           About GeneDecksing

    Genetic Association Database (GAD): DNAJB6

    Export disorders for DNAJB6 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 DNAJB6 gene, integrated from 9 sources (see all 65):
    (articles sorted by number of sources associating them with DNAJB6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, tissue expression, and chromosomal assignment of human MRJ gene for a member of the DNAJ protein family. (PubMed id 10319584)1, 2, 3 Seki N.... Saito T. (1999)
    2. Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. (PubMed id 22366786)1, 2 Sarparanta J.... Udd B. (2012)
    3. Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. (PubMed id 22334415)1, 2 Harms M.B.... Baloh R.H. (2012)
    4. A DNAJB chaperone subfamily with HDAC-dependent activ ities suppresses toxic protein aggregation. (PubMed id 20159555)1, 2 Hageman J....Kampinga H.H. (2010)
    5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. 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. (2004)
    8. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    9. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    10. Characterization of two isoforms of a human DnaJ homologue, HSJ2. (PubMed id 12974469)1, 2 Hanai R. and Mashima K. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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)
    About This Section
    Entrez Gene: 10049 HGNC: 14888 AceView: DNAJB6 Ensembl:ENSG00000105993 euGenes: HUgn10049
    ECgene: DNAJB6 H-InvDB: DNAJB6

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DNAJB6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DNAJB6 gene:
    Search GeneIP for patents involving DNAJB6

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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