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Aliases for DNAJB6 Gene

Aliases for DNAJB6 Gene

  • DnaJ Heat Shock Protein Family (Hsp40) Member B6 2 3 5
  • DnaJ (Hsp40) Homolog, Subfamily B, Member 6 2 3
  • Heat Shock Protein J2 3 4
  • HSJ-2 3 4
  • HHDJ1 3 4
  • MSJ-1 3 4
  • HSJ2 3 4
  • MRJ 3 4
  • Limb Girdle Muscular Dystrophy 1D (Autosomal Dominant) 2
  • DnaJ Homolog Subfamily B Member 6 3
  • DnaJ-Like 2 Protein 3
  • LGMD1D 3
  • LGMD1E 3
  • DNAJ 3
  • MSJ1 4
  • DJ4 3

External Ids for DNAJB6 Gene

Previous HGNC Symbols for DNAJB6 Gene

  • LGMD1D

Previous GeneCards Identifiers for DNAJB6 Gene

  • GC07P155359
  • GC07P156431
  • GC07P156546
  • GC07P156629
  • GC07P156822
  • GC07P157128
  • GC07P150859

Summaries for DNAJB6 Gene

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 Heat Shock Protein Family (Hsp40) Member B6) is a Protein Coding gene. Diseases associated with DNAJB6 include Muscular Dystrophy, Limb-Girdle, Type 1E and Dnajb6-Related Myofibrillar Myopathy. Among its related pathways are Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF) and Cellular Senescence (REACTOME). GO annotations related to this gene include unfolded protein binding and heat shock protein binding. An important paralog of this gene is DNAJB7.

UniProtKB/Swiss-Prot for DNAJB6 Gene

  • 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

Additional gene information for DNAJB6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAJB6 Gene

Genomics for DNAJB6 Gene

Regulatory Elements for DNAJB6 Gene

Enhancers for DNAJB6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H157270 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.4 -62.9 -62924 3 HDGF FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 DNAJB6 UBE3C PIR42191 ENSG00000229660
GH07H157275 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.4 -58.4 -58415 2 SAP130 NFIB ETV1 MAX CTBP1 GLIS2 GATA3 POLR2A EGR1 FOS UBE3C DNAJB6 ENSG00000229660 C7orf13 PIR42191
GH07H157298 1.9 FANTOM5 Ensembl ENCODE dbSUPER 8.5 -34.4 -34428 4 HDGF ATF1 ARNT SIN3A YBX1 ZNF2 ZNF207 ATF7 ZNF548 RUNX3 NOM1 UBE3C DNAJB6 GC07M157305 GC07M157304 ENSG00000229660
GH07H157395 1.6 Ensembl ENCODE dbSUPER 6.3 +66.0 66036 11 HNRNPUL1 HDGF PKNOX1 ARNT SIN3A ZNF2 YY1 ZNF766 CBX5 FOS NOM1 DNAJB6 PIR57204 GC07P157385 GC07P157386
GH07H157352 1 Ensembl ENCODE 8.3 +17.5 17520 1 PKNOX1 INSM2 ZBTB40 BATF FOSL1 FOXK2 EED ZNF600 NFE2 RUNX3 DNAJB6 LOC100506585 GC07P157345 GC07M157268
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DNAJB6 on UCSC Golden Path with GeneCards custom track

Genomic Location for DNAJB6 Gene

Chromosome:
7
Start:
157,335,381 bp from pter
End:
157,417,439 bp from pter
Size:
82,059 bases
Orientation:
Plus strand

Genomic View for DNAJB6 Gene

Genes around DNAJB6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAJB6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAJB6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAJB6 Gene

Proteins for DNAJB6 Gene

  • Protein details for DNAJB6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75190-DNJB6_HUMAN
    Recommended name:
    DnaJ homolog subfamily B member 6
    Protein Accession:
    O75190
    Secondary Accessions:
    • A4D232
    • A8K7D8
    • A8KAG0
    • B4DN73
    • E9PCZ2
    • O95806
    • Q53EN8
    • Q59EF2
    • Q6FIC8
    • Q75MA2
    • Q9UIK6

    Protein attributes for DNAJB6 Gene

    Size:
    326 amino acids
    Molecular mass:
    36087 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAD16010.1; Type=Frameshift; Positions=197; Evidence={ECO:0000305}; Sequence=BAD93096.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for DNAJB6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAJB6 Gene

Post-translational modifications for DNAJB6 Gene

  • Ubiquitination at posLast=196196, isoforms=225, and posLast=232232
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DNAJB6 Gene

Domains & Families for DNAJB6 Gene

Gene Families for DNAJB6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for DNAJB6 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O75190

UniProtKB/Swiss-Prot:

DNJB6_HUMAN :
  • The antiaggregation activity of isoform B resides in the serine-rich region and the C-terminus.
Domain:
  • The antiaggregation activity of isoform B resides in the serine-rich region and the C-terminus.
genes like me logo Genes that share domains with DNAJB6: view

Function for DNAJB6 Gene

Molecular function for DNAJB6 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for DNAJB6 Gene

Gene Ontology (GO) - Molecular Function for DNAJB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001671 ATPase activator activity TAS --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 10954706
GO:0031072 heat shock protein binding IDA 10954706
GO:0051082 unfolded protein binding IDA 21231916
genes like me logo Genes that share ontologies with DNAJB6: view
genes like me logo Genes that share phenotypes with DNAJB6: view

Human Phenotype Ontology for DNAJB6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DNAJB6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for DNAJB6 Gene

Localization for DNAJB6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAJB6 Gene

Cytoplasm, perinuclear region. Nucleus. Cytoplasm, myofibril, sarcomere, Z line.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNAJB6 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DNAJB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 10954706
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with DNAJB6: view

Pathways & Interactions for DNAJB6 Gene

genes like me logo Genes that share pathways with DNAJB6: view

Gene Ontology (GO) - Biological Process for DNAJB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding IDA 11896048
GO:0030036 actin cytoskeleton organization IEA --
GO:0030198 extracellular matrix organization IEA --
GO:0032781 positive regulation of ATPase activity IEA --
GO:0032880 regulation of protein localization IMP 20889486
genes like me logo Genes that share ontologies with DNAJB6: view

No data available for SIGNOR curated interactions for DNAJB6 Gene

Drugs & Compounds for DNAJB6 Gene

No Compound Related Data Available

Transcripts for DNAJB6 Gene

Unigene Clusters for DNAJB6 Gene

DnaJ (Hsp40) homolog, subfamily B, member 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DNAJB6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for DNAJB6 Gene

No ASD Table

Relevant External Links for DNAJB6 Gene

GeneLoc Exon Structure for
DNAJB6
ECgene alternative splicing isoforms for
DNAJB6

Expression for DNAJB6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DNAJB6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DNAJB6 Gene

This gene is overexpressed in Bone (13.6), Brain (10.9), and Breast (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DNAJB6 Gene



Protein tissue co-expression partners for DNAJB6 Gene

NURSA nuclear receptor signaling pathways regulating expression of DNAJB6 Gene:

DNAJB6

SOURCE GeneReport for Unigene cluster for DNAJB6 Gene:

Hs.490745

mRNA Expression by UniProt/SwissProt for DNAJB6 Gene:

O75190-DNJB6_HUMAN
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.

Evidence on tissue expression from TISSUES for DNAJB6 Gene

  • Skin(4.8)
  • Nervous system(4.8)
  • Kidney(4.6)
  • Pancreas(4.6)
  • Lung(3.4)
  • Muscle(3)
  • Eye(2.7)
  • Intestine(2.6)
  • Liver(2.5)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAJB6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • head
  • mouth
  • pharynx
Thorax:
  • clavicle
  • esophagus
  • scapula
Abdomen:
  • stomach
Pelvis:
  • pelvis
Limb:
  • arm
  • femur
  • foot
  • hip
  • humerus
  • knee
  • lower limb
  • shoulder
  • thigh
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with DNAJB6: view

Primer Products

No data available for mRNA differential expression in normal tissues for DNAJB6 Gene

Orthologs for DNAJB6 Gene

This gene was present in the common ancestor of animals.

Orthologs for DNAJB6 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia DNAJB6 33 34
  • 86.26 (n)
rat
(Rattus norvegicus)
Mammalia Dnajb6 33
  • 85.13 (n)
mouse
(Mus musculus)
Mammalia Dnajb6 33 16 34
  • 85.03 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 80 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 77 (a)
OneToMany
cow
(Bos Taurus)
Mammalia DNAJB6 34
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAJB6 33 34
  • 79.24 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 82 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia dnajb6 33
  • 72.46 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9127 33
zebrafish
(Danio rerio)
Actinopterygii dnajb6b 33 34
  • 64.13 (n)
dnajb6a 34
  • 55 (a)
ManyToMany
-- 33
fruit fly
(Drosophila melanogaster)
Insecta mrj 34
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dnj-24 33
  • 52.8 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8514 33
Species where no ortholog for DNAJB6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DNAJB6 Gene

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

Paralogs for DNAJB6 Gene

Variants for DNAJB6 Gene

Sequence variations from dbSNP and Humsavar for DNAJB6 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs387907046 Pathogenic, Limb-girdle muscular dystrophy 1E (LGMD1E) [MIM:603511] 157,367,414(+) TCACA(C/T)TCCGT reference, missense
rs387907047 Pathogenic, Limb-girdle muscular dystrophy 1E (LGMD1E) [MIM:603511] 157,367,424(+) TAACC(C/G)AGATG reference, missense
rs387907150 Pathogenic, Limb-girdle muscular dystrophy 1E (LGMD1E) [MIM:603511] 157,367,402(+) TTGAA(A/T)TTGGC reference, missense
rs149278319 Pathogenic 157,367,416(+) ACATT(A/C/G/T)CGTAA reference, synonymous-codon
rs759982570 Pathogenic 157,367,410(+) GGCTT(C/G/T)ACATT reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for DNAJB6 Gene

Variant ID Type Subtype PubMed ID
esv1305277 CNV insertion 17803354
esv2032343 CNV deletion 18987734
esv2670753 CNV deletion 23128226
esv2676937 CNV deletion 23128226
esv2735675 CNV deletion 23290073
esv2735676 CNV deletion 23290073
esv2735677 CNV deletion 23290073
esv2761391 CNV gain 21179565
esv3572369 CNV loss 25503493
esv3615688 CNV gain 21293372
esv3615694 CNV loss 21293372
esv3615695 CNV gain 21293372
esv3615696 CNV loss 21293372
nsv1129287 CNV insertion 24896259
nsv1141841 CNV insertion 24896259
nsv1141842 CNV insertion 24896259
nsv1148377 CNV insertion 26484159

Variation tolerance for DNAJB6 Gene

Residual Variation Intolerance Score: 44.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.88; 18.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DNAJB6 Gene

Human Gene Mutation Database (HGMD)
DNAJB6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAJB6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAJB6 Gene

Disorders for DNAJB6 Gene

MalaCards: The human disease database

(15) MalaCards diseases for DNAJB6 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy, limb-girdle, type 1e
  • autosomal dominant limb-girdle muscular dystrophy type 1e
dnajb6-related myofibrillar myopathy
autosomal dominant limb-girdle muscular dystrophy
  • limb-girdle muscular dystrophies, autosomal dominant
muscular dystrophy, limb-girdle, type 1b
  • autosomal dominant limb-girdle muscular dystrophy type 1b
muscular dystrophy, limb-girdle, type 1f
  • autosomal dominant limb-girdle muscular dystrophy type 1f
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DNJB6_HUMAN
  • 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. {ECO:0000269 PubMed:22334415, ECO:0000269 PubMed:22366786}. 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). {ECO:0000269 PubMed:22366786}.

Relevant External Links for DNAJB6

Genetic Association Database (GAD)
DNAJB6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNAJB6
genes like me logo Genes that share disorders with DNAJB6: view

No data available for Genatlas for DNAJB6 Gene

Publications for DNAJB6 Gene

  1. Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. (PMID: 22366786) Sarparanta J … Udd B (Nature genetics 2012) 2 3 4 60
  2. Cloning, tissue expression, and chromosomal assignment of human MRJ gene for a member of the DNAJ protein family. (PMID: 10319584) Seki N … Saito T (Journal of human genetics 1999) 2 3 4 60
  3. Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. (PMID: 22334415) Harms MB … Baloh RH (Annals of neurology 2012) 3 4 60
  4. A DNAJB chaperone subfamily with HDAC-dependent activities suppresses toxic protein aggregation. (PMID: 20159555) Hageman J … Kampinga HH (Molecular cell 2010) 3 4 60
  5. Interaction between urokinase receptor and heat shock protein MRJ enhances cell adhesion. (PMID: 20372789) De Bock CE … Wang Y (International journal of oncology 2010) 3 22 60

Products for DNAJB6 Gene

Sources for DNAJB6 Gene

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