DNAJB13: A DnaJ Heat Shock Protein Family Member B13
Key regulator of spermatogenesis and ciliary function
Gene Information Card
| Symbol | DNAJB13 |
|---|---|
| Full Name | DnaJ heat shock protein family (Hsp40) member B13 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.4 |
| NCBI Gene ID | 374407 ncbi.nlm.nih.gov/gene/374407 |
| Ensembl ID | ENSG00000187764 |
| UniProt ID | Q8N8Z6 |
| OMIM ID | 610263 |
| HGNC ID | 30758 |
| Aliases | TSARG6, C11orf46, HSPC300 |
Description
DNAJB13 encodes a member of the DnaJ/Hsp40 family of co-chaperones, which regulate HSP70 function. This protein is specifically expressed in testis and ciliated cells, playing a critical role in spermatogenesis and ciliary motility. Mutations in DNAJB13 are associated with primary ciliary dyskinesia and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia (PCD) | Loss-of-function mutations impair ciliary motility, leading to respiratory tract infections and situs inversus | ClinVar, OMIM |
| Male infertility (asthenozoospermia) | Defective sperm flagella due to DNAJB13 mutations cause reduced sperm motility | NCBI, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Trachea | 8.3 | Medium |
| Lung | 4.1 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.5 | Low expression |
| HEK293 | 0.3 | Not detected |
| hTERT-RPE1 | 2.1 | Medium (ciliated cells) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.292C>T (p.Arg98*) | Nonsense | Rare | Loss of function, associated with PCD |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function, associated with infertility |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, impairing ciliary and flagellar function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • protein folding (GO:0006457) | • cell differentiation (GO:0030154) |
| • spermatid development (GO:0007286) | • cilium assembly (GO:0060271) |
| • cytoplasm (GO:0005737) |
Pathways
• Hsp70 chaperone cycle
• Cilium assembly
Protein Summary
DNAJB13 is a 242-amino acid protein containing a J-domain that interacts with HSP70 chaperones. It localizes to the cytoplasm and ciliary axoneme, facilitating protein folding and assembly of ciliary and flagellar structures. Its expression is enriched in testis and ciliated epithelia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAJB13 Knockout HEK293 Cell Line | EDJ-KQ13184 | Human | 374407 | Details Get a Quote |
| DNAJB13 Knockout A-549 Cell Line | EDJ-KQ42543 | Human | 374407 | Details Get a Quote |
| DNAJB13 Knockout HeLa Cell Line | EDJ-KQ59894 | Human | 374407 | Details Get a Quote |
| DNAJB13 Knockout HCT 116 Cell Line | EDJ-KQ76731 | Human | 374407 | Details Get a Quote |
