WDR53: WD Repeat Domain 53
A gene encoding a WD40-repeat protein with potential roles in cellular signaling and cancer.
Gene Information Card
| Symbol | WDR53 |
|---|---|
| Full Name | WD Repeat Domain 53 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q29 |
| NCBI Gene ID | 79088 ncbi.nlm.nih.gov/gene/79088 |
| Ensembl ID | ENSG00000163874 |
| UniProt ID | Q8N7X0 |
| OMIM ID | 617432 |
| HGNC ID | 25603 |
| Aliases | FLJ22662, MGC13170 |
Description
WDR53 (WD Repeat Domain 53) is a protein-coding gene located on chromosome 3q29. The encoded protein contains WD40 repeats, which are involved in protein-protein interactions and may function in signal transduction, cell cycle regulation, and apoptosis. Limited functional studies suggest a potential role in cancer biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression may contribute to tumorigenesis via disrupted protein interactions. | Low-level evidence from expression studies in COSMIC and literature. |
| Lung cancer | Overexpression observed in some lung cancer cell lines; mechanism unclear. | COSMIC mutation data; limited functional validation. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.3 | Moderate expression |
| HEK293 (embryonic kidney) | 10.1 | Moderate expression |
| HeLa (cervical carcinoma) | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.1% | Unknown; rare variant in population databases |
| c.452G>A (p.Arg151His) | Missense | <0.1% | Unknown; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • WD40-repeat domain |
Pathways
• No curated pathways available
Protein Summary
The WDR53 protein (UniProt Q8N7X0) contains multiple WD40 repeats, forming a beta-propeller structure that mediates protein-protein interactions. Its exact cellular function remains poorly characterized, but it may participate in signaling complexes. Expression data indicate broad but low-level tissue distribution, with highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WDR53 Knockout HEK293 Cell Line | EDJ-KQ16133 | Human | 348793 | Details Get a Quote |
| WDR53 Knockout A-549 Cell Line | EDJ-KQ47315 | Human | 348793 | Details Get a Quote |
| WDR53 Knockout HCT 116 Cell Line | EDJ-KQ47316 | Human | 348793 | Details Get a Quote |
| WDR53 Knockout HeLa Cell Line | EDJ-KQ47317 | Human | 348793 | Details Get a Quote |
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