WDR13: WD Repeat Domain 13
A member of the WD repeat protein family involved in cellular signaling and potential tumor suppression.
Gene Information Card
| Symbol | WDR13 |
|---|---|
| Full Name | WD Repeat Domain 13 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp11.23 |
| NCBI Gene ID | 64743 ncbi.nlm.nih.gov/gene/64743 |
| Ensembl ID | ENSG00000101940 |
| UniProt ID | Q9H1A4 |
| OMIM ID | 300509 |
| HGNC ID | 14355 |
| Aliases | MG21, WDR13A |
Description
WDR13 (WD Repeat Domain 13) is a protein-coding gene located on the X chromosome. It encodes a member of the WD repeat protein family, which are involved in various cellular processes including signal transduction, cell cycle regulation, and apoptosis. WDR13 is expressed in multiple tissues and has been implicated in tumor suppression, particularly in breast and ovarian cancers. Mutations and altered expression of WDR13 are associated with cancer progression and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss of WDR13 expression may contribute to tumorigenesis through dysregulation of cell cycle and apoptosis pathways. | PMID: 23431129 |
| Ovarian cancer | Reduced WDR13 expression is associated with poor prognosis and may promote cancer cell proliferation. | PMID: 23431129 |
| X-linked intellectual disability | Mutations in WDR13 have been reported in patients with intellectual disability, suggesting a role in neurodevelopment. | PMID: 21520333 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Breast | 6.1 | Low |
| Ovary | 5.8 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 7.9 | Moderate expression |
| HeLa (cervical cancer) | 6.5 | Low expression |
| A549 (lung cancer) | 5.2 | Low expression |
| HEK293 (embryonic kidney) | 8.1 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of function |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown significance |
| c.200_201del (p.Glu67fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in WDR13 are predicted to result in truncated or absent protein, leading to loss of function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for WDR13.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for WDR13.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) | • cell cycle (GO:0007049) |
| • apoptotic process (GO:0006915) |
Pathways
• PI3K-Akt signaling pathway (Reactome: R-HSA-1257604)
• Apoptosis (Reactome: R-HSA-109581)
Protein Summary
WDR13 is a 485-amino acid protein containing multiple WD40 repeats, which typically mediate protein-protein interactions. It localizes to the nucleus and cytoplasm and is involved in cell cycle regulation and apoptosis. The protein may function as a tumor suppressor by modulating signaling pathways such as PI3K-Akt. Structural studies suggest that WDR13 interacts with other proteins to regulate cellular proliferation and survival.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WDR13 Knockout HEK293 Cell Line | EDJ-KQ1891 | Human | 64743 | Details Get a Quote |
| WDR13 Knockout A-549 Cell Line | EDJ-KQ20489 | Human | 64743 | Details Get a Quote |
| WDR13 Knockout HCT 116 Cell Line | EDJ-KQ21792 | Human | 64743 | Details Get a Quote |
| WDR13 Knockout HeLa Cell Line | EDJ-KQ21793 | Human | 64743 | Details Get a Quote |
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