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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 po... See more...
Aliases for DNAJB6 Gene
Aliases for DNAJB6 Gene
External Ids for DNAJB6 Gene
- HGNC: 14888
- NCBI Entrez Gene: 10049
- Ensembl: ENSG00000105993
- OMIM®: 611332
- UniProtKB/Swiss-Prot: 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, Autosomal Dominant 1 and Autosomal Dominant Limb-Girdle Muscular Dystrophy. Among its related pathways are Cellular response to heat stress and Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF). 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 Summary 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
- HGNC (14888)
- NCBI Entrez Gene (10049)
- Ensembl (ENSG00000105993)
- OMIM® (611332)
- UniProtKB/Swiss-Prot (O75190)
- Open Targets Platform(ENSG00000105993)
- Monarch Initiative
- Alliance of Genome Resources
- Search for DNAJB6 at DataMed
- Search for DNAJB6 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNAJB6 Gene
Genomics for DNAJB6 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for DNAJB6 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNAJB6
- Top Transcription factor binding sites by QIAGEN in the DNAJB6 gene promoter:
-
- Bach2
- FAC1
- FOXJ2
- FOXJ2 (long isoform)
- N-Myc
Genomic Locations for DNAJB6 Gene
Latest Assembly
- chr7:157,335,381-157,417,439
- (GRCh38/hg38)
- Size:
- 82,059 bases
- Orientation:
- Plus strand
Previous Assembly
- chr7:157,129,698-157,210,133
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 80,436 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 HGNC
- 7q36.3 by Entrez Gene
- 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; 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:
Antibodies for research
- LifeSpan BioSciences DNAJB6 Antibody
- G Biosciences Immunotag™ DNAJB6 Antibody
- GeneTex Anti-DNAJB6 antibody [N3C3] and Anti-DNAJB6 antibody
- Novus Biologicals Antibodies for DNAJB6
-
Abcam antibodies for DNAJB6
- Invitrogen Antibodies for DNAJB6 (AFLGC-DNAJB6)
-
Santa Cruz Biotechnology (SCBT) Antibodies for DNAJB6
Protein products for research
-
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
-
Abcam proteins for DNAJB6
Assay products for research
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:
Suggested Antigen Peptide Sequences for DNAJB6 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ51000, highly similar to DnaJ homolog subfamily B member 6 (B4DN73_HUMAN)
- cDNA FLJ52214, highly similar to DnaJ homolog subfamily B member 6 (B4DVN1_HUMAN)
- MSJ-1 (DNJB6_HUMAN)
- DNAJB6 protein (Q49A72_HUMAN)
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 | IDA | 11896048 |
| GO:0005515 | protein binding | IPI | 10954706 |
| GO:0031072 | heat shock protein binding | IDA | 10954706 |
| GO:0042802 | identical protein binding | IPI | -- |
| GO:0051082 | unfolded protein binding | IDA | 21231916 |
Phenotypes for DNAJB6 Gene
- MGI mutant phenotypes for DNAJB6:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for DNAJB6:
-
- Increased G1 DNA content
- shRNA abundance <= 50%
- no effect
- Decreased centriole number
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Decreased viability in esophageal squamous lineage
- Negative genetic interaction between BLM-/- and BLM+/+
- Decreased viability
- Downregulation of RLR pathway after Sendai virus (SeV) infection
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for DNAJB6 - Starting at $85 >
- * DNAJB6 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for DNAJB6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DNAJB6
-
Santa Cruz Biotechnology (SCBT) CRISPR 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)
- mmu-miR-466o-3p (MIRT596342)
- mmu-miR-466m-3p (MIRT596343)
- mmu-miR-466f-3p (MIRT596344)
- mmu-miR-329-3p (MIRT596345)
- mmu-miR-466i-3p (MIRT596346)
- mmu-miR-362-3p (MIRT596347)
- mmu-miR-128-3p (MIRT596348)
miRNA products for research
Inhibitory RNAs for research
- 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
Clone products for research
- Applied Biological Materials (abm): Clones for DNAJB6 - Starting at $45 >
- * DNAJB6 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG202996
- MG219416
- MG219417
- MG219418
- MR202996
- MR202996L3
- MR202996L4
- MR219416
- MR219416L3
- MR219416L4
- MR219417
- MR219417L3
- MR219417L4
- MR219418
- MR219418L3
- MR219418L4
- RC200206
- RC200206L3
- RC200206L4
- RC201620
- RC201620L1
- RC201620L2
- RC201620L3
- RC201620L4
- RG200206
- RG201620
- RR208753
- RR208753L3
- RR208753L4
- MR202996L3V
- MR202996L4V
- MR219416L3V
- MR219416L4V
- MR219417L3V
- MR219417L4V
- MR219418L3V
- MR219418L4V
- RC200206L3V
- RC200206L4V
- RC201620L1V
- RC201620L2V
- RC201620L3V
- RC201620L4V
- RR208753L3V
- RR208753L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- 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
Cell Lines for research
-
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 |
| mitochondrion | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (4)
- Cytosol (3)
| 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 | IDA,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) |
CFTR folding and maturation (norm and CF)
.37
|
Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF)
.37
|
| 3 | Cellular Senescence (REACTOME) | ||
Pathways by source for DNAJB6 Gene
3 Reactome pathways for DNAJB6 Gene
2 GeneGo (Thomson Reuters) pathways for DNAJB6 Gene
- CFTR folding and maturation (norm and CF)
- Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF)
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
- 3 REFSEQ mRNAs :
- 25 NCBI additional mRNA sequence :
- 18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000262177 2489 nts (view in UCSC)
- ENST00000412557 506 nts (view in UCSC)
- ENST00000417758 852 nts (view in UCSC)
- ENST00000429029 1609 nts (view in UCSC)
- ENST00000437030 566 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for DNAJB6 - Starting at $85 >
- * DNAJB6 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for DNAJB6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DNAJB6
-
Santa Cruz Biotechnology (SCBT) CRISPR for DNAJB6
miRNA products for research
Inhibitory RNAs for research
- 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
Clone products for research
- Applied Biological Materials (abm): Clones for DNAJB6 - Starting at $45 >
- * DNAJB6 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG202996
- MG219416
- MG219417
- MG219418
- MR202996
- MR202996L3
- MR202996L4
- MR219416
- MR219416L3
- MR219416L4
- MR219417
- MR219417L3
- MR219417L4
- MR219418
- MR219418L3
- MR219418L4
- RC200206
- RC200206L3
- RC200206L4
- RC201620
- RC201620L1
- RC201620L2
- RC201620L3
- RC201620L4
- RG200206
- RG201620
- RR208753
- RR208753L3
- RR208753L4
- MR202996L3V
- MR202996L4V
- MR219416L3V
- MR219416L4V
- MR219417L3V
- MR219417L4V
- MR219418L3V
- MR219418L4V
- RC200206L3V
- RC200206L4V
- RC201620L1V
- RC201620L2V
- RC201620L3V
- RC201620L4V
- RR208753L3V
- RR208753L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- 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
Relevant External Links for DNAJB6 Gene
- GeneLoc Exon Structure for
- DNAJB6
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DNAJB6
SOURCE 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(4.7)
- Pancreas(4.6)
- Lung(3.6)
- Muscle(3.2)
- Eye(3)
- Intestine(3)
- Liver(2.9)
- Heart(2.7)
- Blood(2.2)
- Bone marrow(2.1)
- Spleen(2.1)
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 for research
-
OriGene qPCR primer pairs for DNAJB6
-
OriGene qPCR primer pairs and template standards for DNAJB6
Gene Expression Assays for research
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 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Dnajb6 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Dnajb6 29 16 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 30 |
|
ManyToMany | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 30 |
|
OneToMany | |
| Cow (Bos Taurus) |
Mammalia | DNAJB6 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | DNAJB6 29 30 |
|
OneToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 30 |
|
OneToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dnajb6 29 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.9127 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | dnajb6b 29 30 |
|
ManyToMany | |
| dnajb6a 30 |
|
ManyToMany | |||
| -- 29 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | mrj 30 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | dnj-24 29 |
|
||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.8514 29 |
|
- Species where no ortholog for DNAJB6 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Squirt (Ciona savignyi)
- 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
- Alliance of Genome Resources:
- Additional Orthologs for DNAJB6
Paralogs for DNAJB6 Gene
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
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNAJB6 Gene
| SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1003621 | Uncertain Significance: Limb-girdle muscular dystrophy, type 1E | 157,363,208(+) |
AT/A NM_058246.4(DNAJB6):c.114del (p.Asn38fs) |
FRAMESHIFT | |
| 1019617 | Uncertain Significance: Limb-girdle muscular dystrophy, type 1E | 157,385,534(+) |
C/A NM_058246.4(DNAJB6):c.621-7C>A |
INTRON | |
| 1031056 | Uncertain Significance: Limb-girdle muscular dystrophy, type 1E | 157,385,601(+) |
A/C NM_058246.4(DNAJB6):c.681A>C (p.Leu227Phe) |
MISSENSE_VARIANT,INTRON | |
| 1038641 | Uncertain Significance: Limb-girdle muscular dystrophy, type 1E | 157,363,217(+) |
A/G NM_058246.4(DNAJB6):c.122A>G (p.Glu41Gly) |
MISSENSE | |
| 1041838 | Uncertain Significance: Limb-girdle muscular dystrophy, type 1E | 157,409,805(+) |
C/G NM_058246.4(DNAJB6):c.702C>G (p.Asp234Glu) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAJB6 Gene
Disorders for DNAJB6 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| muscular dystrophy, limb-girdle, autosomal dominant 1 |
|
|
| autosomal dominant limb-girdle muscular dystrophy |
|
|
| hereditary late-onset parkinson disease |
|
|
| myofibrillar myopathy |
|
|
| muscular dystrophy |
|
|
Search DNAJB6 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
DNJB6_HUMAN- Muscular dystrophy, limb-girdle, autosomal dominant 1 (LGMDD1) [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 variants affecting the gene represented in this entry. There is evidence that LGMDD1 is caused by dysfunction of isoform B (PubMed:22366786). {ECO:0000269 PubMed:22366786}.
Additional Disease Information for DNAJB6
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
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 72
- Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. (PMID: 22334415) Harms MB … Baloh RH (Annals of neurology 2012) 3 4 72
- 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
- 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
- A DNAJB chaperone subfamily with HDAC-dependent activities suppresses toxic protein aggregation. (PMID: 20159555) Hageman J … Kampinga HH (Molecular cell 2010) 3 4
ExternalLinks
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Sources for DNAJB6 Gene
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