Gene Gene information from NCBI Gene database.
Entrez ID 85479
Gene name DnaJ heat shock protein family (Hsp40) member C5 beta
Gene symbol DNAJC5B
Synonyms (NCBI Gene)
CSP-beta
Chromosome 8
Chromosome location 8q13.1
Summary This gene encodes a member of the DNAJ heat shock protein 40 family of co-chaperone proteins that is characterized by an N-terminal DNAJ domain, a linker region, and a cysteine-rich C-terminal domain. The encoded protein, together with heat shock protein
miRNA miRNA information provided by mirtarbase database.
15
miRTarBase ID miRNA Experiments Reference
MIRT941750 hsa-miR-3119 CLIP-seq
MIRT941751 hsa-miR-3140-3p CLIP-seq
MIRT941752 hsa-miR-375 CLIP-seq
MIRT941753 hsa-miR-4273 CLIP-seq
MIRT941754 hsa-miR-4677-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956
GO:0005737 Component Cytoplasm IEA
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613945 24138 ENSG00000147570
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UF47
Protein name DnaJ homolog subfamily C member 5B (Cysteine-string protein isoform beta) (CSP-beta)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00226 DnaJ 19 81 DnaJ domain Domain
Tissue specificity TISSUE SPECIFICITY: Testis specific.
Sequence
MACNIPNQRQRTLSTTGEALYEILGLHKGASNEEIKKTYRKLALKHHPDKNPDDPAATEK
FKEINNAHAILTDISKRSIYD
KYGSLGLYVAEQFGDENVNTYFMLSSWWAKALFVIVGLL
TGCYFCCCLCCCCNCCCGHCRPESSVPEEDFYVSPEDLEEQIKSDMEKDVDFPVFLQPTN
ANEKTQLIKEGSRSYCTDS
Sequence length 199
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Protein processing in endoplasmic reticulum  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPILEPSY 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
Coronary Disease Coronary artery disease Pubtator 22666496 Associate
★☆☆☆☆
Found in Text Mining only
Coronary heart disease Coronary Heart Disease GWASCAT_DG 22666496
★☆☆☆☆
Found in Text Mining only
Infertility Male Male infertility Pubtator 34580317 Associate
★☆☆☆☆
Found in Text Mining only