WDR87
WD Repeat Domain 87: A Ciliary Protein with Emerging Roles in Spermatogenesis and Cancer
Gene Information Card
| Symbol | WDR87 |
|---|---|
| Full Name | WD Repeat Domain 87 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.12 |
| NCBI Gene ID | 83857 ncbi.nlm.nih.gov/gene/83857 |
| Ensembl ID | ENSG00000105699 |
| UniProt ID | Q9BQA1 |
| OMIM ID | 618182 |
| HGNC ID | 25524 |
| Aliases | FLJ11273, KIAA1632 |
Description
WDR87 (WD Repeat Domain 87) encodes a protein containing multiple WD40 repeats, which are involved in protein-protein interactions. The protein is localized to cilia and flagella, and is essential for sperm flagellar assembly and male fertility. WDR87 is also implicated in cancer through somatic mutations and altered expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Loss of WDR87 disrupts flagellar assembly in spermatozoa, leading to reduced motility and abnormal morphology. | OMIM 618182; PMID: 31604795 |
| Lung adenocarcinoma | Somatic mutations and copy number alterations in WDR87 have been identified in tumor samples. | COSMIC; PMID: 28825729 |
| Colorectal cancer | WDR87 expression is dysregulated in colorectal cancer tissues. | PMID: 30343348 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.2 | High |
| Fallopian tube | 12.5 | Medium |
| Prostate | 9.8 | Medium |
| Kidney | 6.1 | Low |
| Lung | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 5.2 | Moderate expression |
| A549 (lung) | 3.8 | Low expression |
| MCF7 (breast) | 2.1 | Low expression |
| K562 (leukemia) | 0.9 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Premature stop; loss of function |
| c.567_568insA (p.Glu190Argfs*5) | Frameshift | <0.1% | Frameshift; loss of function |
| c.2345G>A (p.Arg782His) | Missense | 0.2% | Unknown significance; predicted benign |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in WDR87 lead to truncated proteins, impairing ciliary function and spermatogenesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for WDR87.
Dominant Negative (DN)
No dominant-negative mutations have been described for WDR87.
View complete mutation data：
Gene Ontology (GO)
| • Cilium assembly | • Sperm flagellum assembly |
| • Protein binding | • WD40 repeat domain binding |
| • Cytoplasm | • Ciliary base |
Pathways
• Ciliopathy-related pathways
• Spermatogenesis
Protein Summary
The WDR87 protein (UniProt Q9BQA1) contains 10 WD40 repeats and localizes to the base of cilia and flagella. It is highly expressed in testis and is required for the formation of the sperm flagellum. The protein interacts with other ciliary components to facilitate intraflagellar transport and axoneme stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WDR87 Knockout HEK293 Cell Line | EDJ-KQ9925 | Human | 83889 | Details Get a Quote |
| WDR87 Knockout HeLa Cell Line | EDJ-KQ57498 | Human | 83889 | Details Get a Quote |
| WDR87 Knockout A-549 Cell Line | EDJ-KQ66001 | Human | 83889 | Details Get a Quote |
| WDR87 Knockout HCT 116 Cell Line | EDJ-KQ74424 | Human | 83889 | Details Get a Quote |
