WDR64: WD Repeat Domain 64
A gene encoding a WD40-repeat protein with potential roles in cellular signaling and structural organization.
Gene Information Card
| Symbol | WDR64 |
|---|---|
| Full Name | WD repeat domain 64 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q42.13 |
| NCBI Gene ID | 128025 ncbi.nlm.nih.gov/gene/128025 |
| Ensembl ID | ENSG00000143190 |
| UniProt ID | Q8N6T3 |
| OMIM ID | 617827 |
| HGNC ID | 25556 |
| Aliases | FLJ32771, MGC138290 |
Description
WDR64 (WD repeat domain 64) is a protein-coding gene located on chromosome 1q42.13. The encoded protein contains multiple WD40 repeats, which are structural motifs involved in protein-protein interactions, often serving as scaffolds in signaling complexes, vesicle trafficking, or chromatin remodeling. The precise biological function of WDR64 remains under investigation, but its expression pattern suggests roles in ciliary function and spermatogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure | Potential role in flagellar assembly; WDR64 mutations may disrupt WD40-mediated protein interactions required for sperm motility. | ClinVar: limited case reports; OMIM: 617827 associated with male infertility |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Fallopian tube | 5.2 | Low |
| Brain (cerebellum) | 3.1 | Low |
| Lung | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 2.3 | Low expression |
| K562 | 0.9 | Very low |
| HepG2 | 1.1 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare (MAF < 0.01%) | Premature stop; likely loss of function |
| c.567G>A (p.Trp189*) | Nonsense | Rare | Loss of function; associated with spermatogenic failure |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) are predicted to cause nonsense-mediated decay or truncated protein, leading to loss of WD40 repeats and impaired protein interactions.
Gain of Function (GOF)
No evidence for gain-of-function mutations in WDR64.
Dominant Negative (DN)
No known dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • cilium (GO:0005929) | • cell differentiation (GO:0030154) |
Pathways
• No specific pathways curated in Reactome or KEGG for WDR64.
Protein Summary
WDR64 encodes a 1,024-amino acid protein containing multiple WD40 repeats. WD40 domains form beta-propeller structures that mediate transient protein-protein interactions. The protein is predicted to localize to the cytoplasm and cilia, with highest expression in testis, suggesting a role in spermatogenesis and flagellar function. Structural modeling indicates a seven-bladed beta-propeller fold.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WDR64 Knockout HEK293 Cell Line | EDJ-KQ9148 | Human | 128025 | Details Get a Quote |
| WDR64 Knockout HeLa Cell Line | EDJ-KQ58223 | Human | 128025 | Details Get a Quote |
| WDR64 Knockout A-549 Cell Line | EDJ-KQ66712 | Human | 128025 | Details Get a Quote |
| WDR64 Knockout HCT 116 Cell Line | EDJ-KQ75123 | Human | 128025 | Details Get a Quote |
