Gene Gene information from NCBI Gene database.
Entrez ID 11080
Gene name DnaJ heat shock protein family (Hsp40) member B4
Gene symbol DNAJB4
Synonyms (NCBI Gene)
CMYO21CMYP21DNAJWDjB4HLJ1
Chromosome 1
Chromosome location 1p31.1
Summary The protein encoded by this gene is a molecular chaperone, tumor suppressor, and member of the heat shock protein-40 family. The encoded protein binds the cell adhesion protein E-cadherin and targets it to the plasma membrane. This protein also binds inco
miRNA miRNA information provided by mirtarbase database.
422
miRTarBase ID miRNA Experiments Reference
MIRT001471 hsa-miR-16-5p pSILAC 18668040
MIRT019300 hsa-miR-148b-3p Microarray 17612493
MIRT021629 hsa-miR-142-3p Microarray 17612493
MIRT024618 hsa-miR-215-5p Microarray 19074876
MIRT026002 hsa-miR-148a-3p Sequencing 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
YY1 Activation 15782117;21345358
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0001671 Function ATPase activator activity IDA 24318877
GO:0005515 Function Protein binding IPI 21255413, 32296183, 32814053
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611327 14886 ENSG00000162616
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UDY4
Protein name DnaJ homolog subfamily B member 4 (Heat shock 40 kDa protein 1 homolog) (HSP40 homolog) (Heat shock protein 40 homolog) (Human liver DnaJ-like protein)
Protein function Probable chaperone. Stimulates ATP hydrolysis and the folding of unfolded proteins mediated by HSPA1A/B (in vitro) (PubMed:24318877).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00226 DnaJ 4 65 DnaJ domain Domain
PF01556 DnaJ_C 160 319 DnaJ C terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, pancreas and skeletal muscle, and to a lesser extent in brain, placenta and liver. {ECO:0000269|PubMed:9546042}.
Sequence
Sequence length 337
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital myopathy 21 with early respiratory failure Pathogenic rs2524296398, rs2524295993, rs1660297324, rs1353267621 RCV003223360
RCV003223361
RCV003223362
RCV003223363
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL MYOPATHY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 15782117, 16788156
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma GWASCAT_DG 28604730
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28481734, 31221721
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 28481734 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 22529897 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 24293545
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 16788156, 18794131, 27065329
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma GWASCAT_DG 28604730
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 24450541 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 24696714 Inhibit
★☆☆☆☆
Found in Text Mining only