WDR17: WD Repeat Domain 17
A gene encoding a WD40-repeat protein with potential roles in cellular signaling and cancer.
Gene Information Card
| Symbol | WDR17 |
|---|---|
| Full Name | WD repeat domain 17 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p15.33 |
| NCBI Gene ID | 116143 ncbi.nlm.nih.gov/gene/116143 |
| Ensembl ID | ENSG00000138684 |
| UniProt ID | Q9BQA1 |
| OMIM ID | 617866 |
| HGNC ID | 30626 |
| Aliases | FLJ23577, MGC138290 |
Description
WDR17 (WD repeat domain 17) is a protein-coding gene located on chromosome 4p15.33. The encoded protein contains multiple WD40 repeats, which are structural motifs involved in protein-protein interactions. WDR17 is implicated in cellular signaling pathways and has been studied in the context of cancer, though its precise biological functions remain under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression may contribute to tumorigenesis via disrupted protein interactions. | COSMIC database reports somatic mutations in various cancers. |
| Lung adenocarcinoma | Mutations and expression changes observed in tumor samples. | COSMIC and literature evidence. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.7 | Low |
| Lung | 6.2 | Low |
| Kidney | 5.1 | Low |
| Liver | 3.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Embryonic kidney cells |
| A549 | 7.5 | Lung carcinoma cell line |
| HepG2 | 4.2 | Hepatocellular carcinoma |
| K562 | 2.1 | Chronic myeloid leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A | missense | 0.02% | p.Val412Met; unknown functional impact |
| c.567_568del | frameshift deletion | 0.01% | Predicted loss of function |
| c.890C>T | nonsense | 0.005% | p.Arg297*; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to truncated or absent protein.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) |
Pathways
• No specific pathways curated in major databases.
Protein Summary
The WDR17 protein (UniProt Q9BQA1) contains multiple WD40 repeats, forming a beta-propeller structure that mediates protein-protein interactions. It is localized in the cytoplasm and nucleus, suggesting roles in signal transduction and transcriptional regulation. Expression is highest in testis and brain, with lower levels in other tissues. Somatic mutations have been identified in cancer, but functional characterization is limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WDR17 Knockout HEK293 Cell Line | EDJ-KQ6925 | Human | 116966 | Details Get a Quote |
| WDR17 Knockout A-549 Cell Line | EDJ-KQ32912 | Human | 116966 | Details Get a Quote |
| WDR17 Knockout HeLa Cell Line | EDJ-KQ58000 | Human | 116966 | Details Get a Quote |
| WDR17 Knockout HCT 116 Cell Line | EDJ-KQ74909 | Human | 116966 | Details Get a Quote |
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