Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10049
Gene name Gene Name - the full gene name approved by the HGNC.
DnaJ heat shock protein family (Hsp40) member B6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DNAJB6
Synonyms (NCBI Gene) Gene synonyms aliases
DJ4, DnaJ, HHDJ1, HSJ-2, HSJ2, LGMD1D, LGMD1E, LGMDD1, MRJ, MSJ-1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
LGMDD1
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q36.3
Summary Summary of gene provided in NCBI Entrez 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 ce
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs142974468 C>T Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance Genic downstream transcript variant, coding sequence variant, missense variant
rs145897776 C>T Likely-benign, conflicting-interpretations-of-pathogenicity Synonymous variant, intron variant, coding sequence variant
rs149278319 C>A,G,T Benign-likely-benign, pathogenic, likely-benign Coding sequence variant, missense variant, synonymous variant
rs369098407 T>G Conflicting-interpretations-of-pathogenicity, likely-benign Synonymous variant, genic downstream transcript variant, coding sequence variant, intron variant
rs373354100 C>A,G Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020424 hsa-miR-106b-5p Microarray 17242205
MIRT025240 hsa-miR-34a-5p Proteomics 21566225
MIRT025240 hsa-miR-34a-5p Proteomics 21566225
MIRT025240 hsa-miR-34a-5p Proteomics 21566225
MIRT362256 hsa-miR-6813-3p PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001671 Function ATPase activator activity IDA 11896048
GO:0005515 Function Protein binding IPI 10954706, 16919237, 22366786, 23414517, 25036637, 32814053
GO:0005634 Component Nucleus HDA 21630459
GO:0005634 Component Nucleus IDA 10954706, 21231916
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611332 14888 ENSG00000105993
Protein
UniProt ID O75190
Protein name DnaJ homolog subfamily B member 6 (HHDJ1) (Heat shock protein J2) (HSJ-2) (MRJ) (MSJ-1)
Protein function 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 (PubMed:10954706, PubMed:28233300). Plays an indispensable role in the organization of KRT8/KRT18 fi
PDB 6U3R , 6U3S , 7JSQ , 7QBY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00226 DnaJ 3 66 DnaJ domain Domain
Tissue specificity 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
Sequence
MVDYYEVLGVQRHASPEDIKKAYRKLALKWHPDKNPENKEEAERKFKQVAEAYEVLSDAK
KRDIYD
KYGKEGLNGGGGGGSHFDSPFEFGFTFRNPDDVFREFFGGRDPFSFDFFEDPFE
DFFGNRRGPRGSRSRGTGSFFSAFSGFPSFGSGFSSFDTGFTSFGSLGHGGLTSFSSTSF
GGSGMGNFKSISTSTKMVNGRKITTKRIVENGQERVEVEEDGQLKSLTINGVADDDALAE
ERMRRGQNALPAQPAGLRPPKPPRPASLLRHAPHCLSEEEGEQDRPRAPGPWDPLASAAG
LKEGGKRKKQKQREESKKKKSTKGNH
Sequence length 326
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Regulation of HSF1-mediated heat shock response
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Limb-girdle muscular dystrophy Muscular Dystrophies, Limb-Girdle, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, Muscular Dystrophy, Limb-Girdle, Type 1D, MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1, DNAJB6-related limb-girdle muscular dystrophy D1 rs2137534216, rs104894422, rs762777463, rs104894423, rs137854524, rs137854521, rs137854523, rs137854529, rs398123555, rs119463996, rs587777814, rs119463992, rs267606971, rs267606967, rs28941782
View all (762 more)
22366786, 22334415
Muscular dystrophy Muscular Dystrophy rs200198778, rs121908110, rs121908185, rs58932704, rs61672878, rs60458016, rs387906881, rs397509417, rs267607644, rs267607634, rs59332535, rs797045898, rs755660222, rs142908436, rs886039913
View all (15 more)
Myofibrillar myopathy Myofibrillar Myopathy rs121908333, rs121908334, rs28937597, rs121908457, rs121908458, rs121908460, rs121908461, rs121913000, rs60538473, rs57639980, rs121913003, rs57955682, rs121913004, rs121913005, rs57965306
View all (75 more)
Unknown
Disease term Disease name Evidence References Source
Dementia Dementia GWAS
Associations from Text Mining
Disease Name Relationship Type References
AA amyloidosis Inhibit 23904097, 32350108
alpha 1 Antitrypsin Deficiency Associate 28819167
Arthritis Juvenile Associate 17469159
Ataxia Associate 28794355
Atherosclerosis Associate 35795669
Breast Neoplasms Associate 22710984, 28334900, 29954368
Bulbar Palsy Progressive Associate 26205529
Carcinogenesis Associate 28334900
Carcinoma Ductal Inhibit 20522561
Coronary Artery Disease Associate 35795669