Aliases for DNAJB6 Gene
Aliases for DNAJB6 Gene
External Ids for DNAJB6 Gene
- HGNC: 14888
- Entrez Gene: 10049
- Ensembl: ENSG00000105993
- OMIM: 611332
- UniProtKB: O75190
Previous HGNC Symbols for DNAJB6 Gene
- LGMD1D
Previous GeneCards Identifiers for DNAJB6 Gene
- GC07P155359
- GC07P156431
- GC07P156546
- GC07P156629
- GC07P156822
- GC07P157128
- GC07P150859
Summaries 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 Autosomal Dominant Limb-Girdle Muscular Dystrophy. Among its related pathways are Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF) and Cellular response to heat stress. Gene Ontology (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.
Additional gene information for DNAJB6 Gene
- Monarch Initiative
- Search for DNAJB6 at DataMed
- Search for DNAJB6 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAJB6 Gene
Genomics for DNAJB6 Gene
GeneHancer (GH) Regulatory Elements for DNAJB6 Gene
Promoters and enhancers for DNAJB6 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH07J157335 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE | 650.7 | +3.0 | 3018 | 5 | HDGF PKNOX1 CLOCK ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B | DNAJB6 PIR48695 NOM1 RPL36AP30 LOC100506585 GC07P157345 GC07M157268 | |
| GH07J157334 | Enhancer | 0.5 | ENCODE | 650.7 | -0.9 | -919 | 0.2 | OSR2 ZNF664 NR2F1 IKZF1 | DNAJB6 GC07P157307 GC07M157268 | |
| GH07J157336 | Enhancer | 0.2 | ENCODE | 650.7 | +0.0 | 41 | 0.2 | DNAJB6 PIR48695 LOC100506585 GC07M157268 | ||
| GH07J157270 | Enhancer | 1.7 | FANTOM5 Ensembl ENCODE dbSUPER | 11.4 | -62.9 | -62923 | 3.2 | HDGF FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 | PIR42191 DNAJB6 UBE3C ENSG00000229660 GC07M157268 | |
| GH07J157275 | Enhancer | 1.4 | FANTOM5 Ensembl ENCODE dbSUPER | 11.4 | -58.4 | -58414 | 2.8 | CTCF SAP130 NFIB MAX CTBP1 GATA3 GLIS2 POLR2A EGR1 RCOR1 | UBE3C DNAJB6 ENSG00000229660 LINC01006 PIR42191 GC07M157268 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around DNAJB6 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the DNAJB6 gene promoter:
-
- FOXJ2 (long isoform)
- FOXJ2
- N-Myc
- Bach2
- FAC1
Regulatory Element Products
Genomic Locations for DNAJB6 Gene
Genomic Locations for DNAJB6 Gene
- chr7:157,335,381-157,417,439
- (GRCh38/hg38)
- Size:
- 82,059 bases
- Orientation:
- Plus strand
- chr7:157,128,075-157,210,133
- (GRCh37/hg19)
- 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:
-
- 7q36.3 by Entrez Gene
- 7q36.3 by HGNC
- 7q36.3 by Ensembl
DNAJB6 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for DNAJB6 Gene
Post-translational modifications for DNAJB6 Gene
Other Protein References for DNAJB6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for DNAJB6
-
Abcam antibodies for DNAJB6
- Invitrogen Antibodies for DNAJB6 (AFLGC-DNAJB6)
- GeneTex DNAJB6 Antibody for DNAJB6
-
Boster Bio Antibodies for DNAJB6
-
Santa Cruz Biotechnology (SCBT) Antibodies for DNAJB6
Protein Products
-
OriGene Purified Proteins for DNAJB6
- Search Origene for MassSpec and Protein Over-expression Lysates for DNAJB6
- Origene Custom Protein Services for DNAJB6
- ProSpec Recombinant Proteins for DNAJB6
- Search GeneTex for Proteins for DNAJB6
-
Abcam proteins for DNAJB6
Assay Products
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:
Suggested Antigen Peptide Sequences for DNAJB6 Gene
Graphical View of Domain Structure for InterPro Entry
O75190UniProtKB/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.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001671 | ATPase activator activity | TAS | -- |
| GO:0005515 | protein binding | IPI | 10954706 |
| GO:0031072 | heat shock protein binding | IDA | 10954706 |
| GO:0051082 | unfolded protein binding | IDA | 21231916 |
| GO:0051087 | chaperone binding | IPI | 21231916 |
Phenotypes for DNAJB6 Gene
- MGI mutant phenotypes for DNAJB6:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for DNAJB6:
-
- Increased G1 DNA content
- Negative genetic interaction between BLM-/- and BLM+/+
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Upregulation of RLR pathway after Sendai virus (SeV) infection
- Decreased centriole number
- shRNA abundance <= 50%
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for DNAJB6
-
CRISPR Products
-
OriGene CRISPR knockouts for DNAJB6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DNAJB6
- genomics-online: gRNA clones - Search results for available DNAJB6 gene related products
- Applied Biological Materials CRISPR for DNAJB6
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DNAJB6
- GenScript: Design CRISPR guide RNA sequences for DNAJB6
miRNA for DNAJB6 Gene
- miRTarBase miRNAs that target DNAJB6
-
- hsa-mir-106b-5p (MIRT020424)
- hsa-mir-34a-5p (MIRT025240)
- hsa-mir-3529-3p (MIRT221376)
- hsa-mir-138-5p (MIRT221379)
- hsa-mir-548e-5p (MIRT221380)
- hsa-mir-3152-3p (MIRT221382)
- hsa-mir-4694-5p (MIRT221386)
- hsa-mir-3591-5p (MIRT221387)
- hsa-mir-5581-3p (MIRT221388)
- hsa-mir-6872-3p (MIRT221391)
- hsa-mir-7978 (MIRT221392)
- hsa-mir-203a-3p (MIRT244403)
- hsa-mir-200b-3p (MIRT244404)
- hsa-mir-200c-3p (MIRT244406)
- hsa-mir-429 (MIRT244407)
- hsa-mir-944 (MIRT244410)
- hsa-mir-432-5p (MIRT362252)
- hsa-mir-6813-3p (MIRT362256)
- hsa-mir-4652-3p (MIRT502608)
- hsa-mir-4743-3p (MIRT502609)
- hsa-mir-3686 (MIRT502610)
- hsa-mir-20b-3p (MIRT502611)
- hsa-mir-3137 (MIRT502612)
- hsa-mir-4724-5p (MIRT502613)
- hsa-mir-4999-3p (MIRT502614)
- hsa-let-7c-3p (MIRT507534)
- hsa-mir-142-3p (MIRT507535)
- hsa-mir-3177-5p (MIRT507536)
- hsa-mir-6131 (MIRT507537)
- hsa-mir-133a-5p (MIRT507538)
- hsa-mir-4280 (MIRT507539)
- hsa-mir-5689 (MIRT538032)
- hsa-mir-4756-3p (MIRT538033)
- hsa-mir-520h (MIRT538034)
- hsa-mir-520g-3p (MIRT538035)
- hsa-mir-4797-5p (MIRT538036)
- hsa-mir-519c-3p (MIRT538037)
- hsa-mir-519b-3p (MIRT538038)
- hsa-mir-519a-3p (MIRT538039)
- hsa-mir-20a-5p (MIRT538040)
- hsa-mir-20b-5p (MIRT538041)
- hsa-mir-519d-3p (MIRT538042)
- hsa-mir-106a-5p (MIRT538043)
- hsa-mir-526b-3p (MIRT538044)
- hsa-mir-93-5p (MIRT538045)
- hsa-mir-17-5p (MIRT538046)
- hsa-mir-4309 (MIRT567729)
- hsa-mir-3198 (MIRT567730)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DNAJB6
- Browse OriGene Inhibitory RNA Products For DNAJB6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAJB6
- genomics-online: shRNA clones - Search results for available DNAJB6 gene related products
Clone Products
- Sino Biological Human cDNA Clone for DNAJB6
- Addgene plasmids for DNAJB6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DNAJB6
- genomics-online: cdna clones - Search results for available DNAJB6 gene related products
- orf clones - Search results for available DNAJB6 gene related products
- Applied Biological Materials Clones for DNAJB6
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for DNAJB6
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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| cytoskeleton | 2 |
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA,IEA | 10954706 |
| GO:0005654 | nucleoplasm | TAS,IDA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0016020 | membrane | HDA | 19946888 |
Pathways & Interactions for DNAJB6 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cellular response to heat stress | ||
| 2 | Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF) | ||
| 3 | Cellular Senescence (REACTOME) | ||
Pathways by source for DNAJB6 Gene
3 Reactome pathways for DNAJB6 Gene
2 GeneGo (Thomson Reuters) pathways for DNAJB6 Gene
Interacting Proteins for DNAJB6 Gene
Selected Interacting proteins:
O75190-DNJB6_HUMAN
ENSP00000262177
for DNAJB6 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for DNAJB6
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006457 | protein folding | IDA | 11896048 |
| GO:0032781 | positive regulation of ATPase activity | IEA | -- |
| GO:0032880 | regulation of protein localization | IMP | 20889486 |
| GO:0043154 | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | IDA | 11896048 |
| GO:0045109 | intermediate filament organization | IDA | 10954706 |
No data available for SIGNOR curated interactions for DNAJB6 Gene
Transcripts for DNAJB6 Gene
mRNA/cDNA for DNAJB6 Gene
- (7) REFSEQ mRNAs :
- (25) Additional mRNA sequences :
- (781) Selected AceView cDNA sequences:
- (18) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000441561 1022 bps (uc064jrz.1)
- ENST00000429029 1609 bps (uc003wnj.4)
- ENST00000262177 2527 bps (uc003wnk.4)
- ENST00000486083 699 bps (uc064jsa.1)
- ENST00000417758 852 bps (uc064jsb.1)
Unigene Clusters for DNAJB6 Gene
CRISPR Products
-
OriGene CRISPR knockouts for DNAJB6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DNAJB6
- genomics-online: gRNA clones - Search results for available DNAJB6 gene related products
- Applied Biological Materials CRISPR for DNAJB6
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DNAJB6
- GenScript: Design CRISPR guide RNA sequences for DNAJB6
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DNAJB6
- Browse OriGene Inhibitory RNA Products For DNAJB6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAJB6
- genomics-online: shRNA clones - Search results for available DNAJB6 gene related products
Clone Products
- Sino Biological Human cDNA Clone for DNAJB6
- Addgene plasmids for DNAJB6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DNAJB6
- genomics-online: cdna clones - Search results for available DNAJB6 gene related products
- orf clones - Search results for available DNAJB6 gene related products
- Applied Biological Materials Clones for DNAJB6
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for DNAJB6 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Ovary (Reproductive System)
- Primary Oocyte Primary Follicle
- Oviduct
- Blood (Hematopoietic System)
-
Gonad
- Primary Oocyte Primary Follicle
- Bone (Muscoskeletal System)
-
Testis (Reproductive System)
-
Esophagus (Gastrointestinal Tract)
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, MaxQB, and MOPED for DNAJB6 Gene
NURSA nuclear receptor signaling pathways regulating expression of DNAJB6 Gene:
DNAJB6SOURCE GeneReport for Unigene cluster for DNAJB6 Gene:
Hs.490745mRNA 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
Regions:
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
Primer Products
-
OriGene qPCR primer pairs for DNAJB6
-
OriGene qPCR primer pairs and template standards for DNAJB6
- genomics-online: primer clones - Search results for available DNAJB6 gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| dog (Canis familiaris) |
Mammalia | DNAJB6 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Dnajb6 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Dnajb6 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
ManyToMany | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| cow (Bos Taurus) |
Mammalia | DNAJB6 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | DNAJB6 34 33 |
|
OneToMany | |
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | dnajb6 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.9127 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | dnajb6b 34 33 |
|
ManyToMany | |
| dnajb6a 34 |
|
ManyToMany | |||
| -- 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | mrj 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | dnj-24 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | Cin.8514 33 |
|
||
| 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for DNAJB6: view image
Paralogs for DNAJB6 Gene
(25) SIMAP similar genes for DNAJB6 Gene using alignment to 11 proteins:
- DNJB6_HUMAN
- C9J2C4_HUMAN
- C9J2P2_HUMAN
- C9JB42_HUMAN
- C9JDR7_HUMAN
- C9JDX6_HUMAN
- C9JN01_HUMAN
- E9PH18_HUMAN
- F8WCZ4_HUMAN
- Q49A72_HUMAN
- Q75MP3_HUMAN
Pseudogenes.org Pseudogenes for DNAJB6 Gene
Variants for DNAJB6 Gene
| SNP ID | Clin | Chr 07 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1037832364 | uncertain-significance, Myofibrillar Myopathy, Dominant, Limb-Girdle Muscular Dystrophy, Dominant | 157,416,879(+) | C/A | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs1041448652 | uncertain-significance, Myofibrillar Myopathy, Dominant, Limb-Girdle Muscular Dystrophy, Dominant | 157,337,063(+) | C/A/G/T | 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant | |
| rs1057518860 | uncertain-significance, Muscle weakness, Proximal muscle weakness | 157,366,505(+) | A/G | coding_sequence_variant, missense_variant | |
| rs1059752 | benign, Myofibrillar Myopathy, Dominant, Limb-Girdle Muscular Dystrophy, Dominant | 157,416,857(+) | C/T | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs115297289 | likely-benign, Myofibrillar Myopathy, Dominant, Limb-Girdle Muscular Dystrophy, Dominant | 157,416,874(+) | C/T | 3_prime_UTR_variant, genic_downstream_transcript_variant |
| 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 |
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)
Additional Variant Information for DNAJB6 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAJB6 Gene
Disorders for DNAJB6 Gene
(15) MalaCards diseases for DNAJB6 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| muscular dystrophy, limb-girdle, type 1e |
|
|
| autosomal dominant limb-girdle muscular dystrophy |
|
|
| limb-girdle muscular dystrophy |
|
|
| muscular dystrophy, limb-girdle, type 1b |
|
|
| muscular dystrophy, limb-girdle, type 1f |
|
|
Search DNAJB6 in MalaCards
View complete list of genes associated with diseases
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}.
Additional Disease Information for DNAJB6
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for DNAJB6 Gene
Publications for DNAJB6 Gene
- 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 58
- 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 58
- A novel DNAJB6 mutation causes dominantly inherited distal-onset myopathy and compromises DNAJB6 function. (PMID: 28233300) Tsai PC … Lee YC (Clinical genetics 2017) 3 4 58
- Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. (PMID: 22334415) Harms MB … Baloh RH (Annals of neurology 2012) 3 4 58
- A DNAJB chaperone subfamily with HDAC-dependent activities suppresses toxic protein aggregation. (PMID: 20159555) Hageman J … Kampinga HH (Molecular cell 2010) 3 4 58
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Sources for DNAJB6 Gene
- (1) GeneCards
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- (68) Cloud-Clone Corp.
- (69) OCA
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- (73) Reactome
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