WDR93
WD Repeat Domain 93
Gene Information Card
| Symbol | WDR93 |
|---|---|
| Full Name | WD repeat domain 93 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q26.1 |
| NCBI Gene ID | 100506142 ncbi.nlm.nih.gov/gene/100506142 |
| Ensembl ID | ENSG00000203879 |
| UniProt ID | Q8N7H5 |
| OMIM ID | 618421 |
| HGNC ID | 33721 |
| Aliases | C15orf41, FLJ35725 |
Description
WDR93 (WD repeat domain 93) is a protein-coding gene located on chromosome 15q26.1. It encodes a protein containing WD40 repeats, which are involved in protein-protein interactions, signal transduction, and cellular regulation. The gene is expressed in various tissues and has been implicated in ciliary function and potential roles in developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia | Defects in ciliary assembly or function due to WDR93 mutations | ClinVar; PMID: 31558765 |
| Retinitis pigmentosa | Potential involvement in photoreceptor cilia maintenance | OMIM #618421 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 3.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 7.3 | Low expression |
| K562 | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1042C>T (p.Arg348*) | Nonsense | <0.01% | Loss of function; associated with primary ciliary dyskinesia |
| c.158G>A (p.Arg53His) | Missense | <0.01% | Uncertain significance; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants in WDR93 are associated with ciliary dysfunction and primary ciliary dyskinesia.
Gain of Function (GOF)
No gain-of-function mutations reported for WDR93.
Dominant Negative (DN)
No dominant-negative mutations described for WDR93.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • cilium (GO:0005929) | • cell projection organization (GO:0030030) |
Pathways
• Cilium assembly (Reactome: R-HSA-5617833)
• Protein-protein interactions at the cilium
Protein Summary
The WDR93 protein contains multiple WD40 repeats, forming a beta-propeller structure that mediates protein-protein interactions. It is localized to the cytoplasm and cilia, suggesting a role in ciliary assembly and signaling. The protein is conserved across vertebrates and is essential for normal ciliary function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WDR93 Knockout HEK293 Cell Line | EDJ-KQ16137 | Human | 56964 | Details Get a Quote |
| WDR93 Knockout HeLa Cell Line | EDJ-KQ56780 | Human | 56964 | Details Get a Quote |
| WDR93 Knockout A-549 Cell Line | EDJ-KQ65283 | Human | 56964 | Details Get a Quote |
| WDR93 Knockout HCT 116 Cell Line | EDJ-KQ73726 | Human | 56964 | Details Get a Quote |
