Gene Gene information from NCBI Gene database.
Entrez ID 10049
Gene name DnaJ heat shock protein family (Hsp40) member B6
Gene symbol DNAJB6
Synonyms (NCBI Gene)
DJ4DnaJHHDJ1HSJ-2HSJ2LGMD1DLGMD1ELGMDD1MRJMSJ-1
Chromosome 7
Chromosome location 7q36.3
Summary 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.
17
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.
557
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
GO ID Ontology Definition Evidence Reference
GO:0001671 Function ATPase activator activity IDA 11896048
GO:0001671 Function ATPase activator activity TAS
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 10954706, 16919237, 22366786, 23414517, 25036637, 32814053, 33961781
GO:0005634 Component Nucleus HDA 21630459
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611332 14888 ENSG00000105993
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
477
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of the musculature Pathogenic rs759982570 RCV001814119
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) Pathogenic; Likely pathogenic rs869320701, rs387907047, rs869320700, rs759982570, rs869320702, rs387907046, rs149278319, rs387907150, rs575938861 RCV001783133
RCV003062151
RCV000210839
RCV000210825
RCV000210832
RCV000210843
RCV000023891
RCV000023892
RCV000024240
RCV000024241
RCV000024242
RCV000845572
RCV001030757
Ehlers-Danlos syndrome, classic type, 1 Pathogenic rs387907150 RCV005428994
Ehlers-Danlos syndrome, classic type, 2 Pathogenic rs387907150 RCV005428994
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs3802099 RCV005918030
Colorectal cancer Uncertain significance rs199651553 RCV005899185
DNAJB6-related disorder Conflicting classifications of pathogenicity; Uncertain significance rs150583876, rs142974468, rs150709673, rs200906900, rs373354100 RCV003930062
RCV003930085
RCV004755850
RCV003408756
RCV003980362
Familial cancer of breast Benign; Likely benign rs150709673 RCV005894276
Associations from Text MiningDisease associations identified through Pubtator
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