WDR6: A WD40 Repeat Protein with Roles in Cell Growth and Cancer
Comprehensive genomic and functional overview of the WDR6 gene
Gene Information Card
| Symbol | WDR6 |
|---|---|
| Full Name | WD repeat domain 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 11180 ncbi.nlm.nih.gov/gene/11180 |
| Ensembl ID | ENSG00000163636 |
| UniProt ID | Q9NNW5 |
| OMIM ID | 606031 |
| HGNC ID | 12758 |
| Aliases | WD40 repeat protein 6, FLJ10036 |
Description
WDR6 (WD repeat domain 6) encodes a member of the WD40 repeat protein family. These proteins are characterized by multiple WD40 repeats that form a beta-propeller structure, serving as a scaffold for protein-protein interactions. WDR6 is involved in cell cycle progression, growth regulation, and has been implicated in various cancers. Its expression is associated with poor prognosis in certain tumor types.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Overexpression of WDR6 promotes cell proliferation and migration via activation of the PI3K/AKT pathway | PMID: 31545678 |
| Gastric cancer | WDR6 upregulation correlates with advanced tumor stage and lymph node metastasis | PMID: 32015567 |
| Colorectal cancer | WDR6 knockdown inhibits cell growth and induces apoptosis in vitro | PMID: 30561432 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.3 | Medium |
| Liver | 6.1 | Low |
| Brain | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| MCF7 | 9.7 | Breast cancer cell line |
| A549 | 7.5 | Lung cancer cell line |
| HeLa | 6.8 | Cervical cancer cell line |
| K562 | 5.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045G>A (p.Gly349Arg) | Missense | <0.1% | Unknown functional impact |
| c.1322C>T (p.Thr441Met) | Missense | <0.1% | Reported in COSMIC as likely passenger |
| c.1678_1680del (p.Lys560del) | In-frame deletion | <0.1% | Loss of WD40 repeat integrity |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
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 (GO:0005515) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) | • cell cycle (GO:0007049) |
| • negative regulation of apoptotic process (GO:0043066) |
Pathways
• PI3K/AKT signaling pathway
• Cell cycle regulation
Protein Summary
WDR6 is a 1,236-amino-acid protein containing multiple WD40 repeats that form a beta-propeller structure. It localizes to both the cytoplasm and nucleus, and interacts with proteins involved in cell cycle control and growth signaling. Overexpression in several cancers suggests a role in tumorigenesis, potentially through modulation of the PI3K/AKT pathway.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WDR62 Knockout HEK293 Cell Line | EDJ-KQ2758 | Human | 284403 | Details Get a Quote |
| WDR64 Knockout HEK293 Cell Line | EDJ-KQ9148 | Human | 128025 | Details Get a Quote |
| WDR62 Knockout HCT 116 Cell Line | EDJ-KQ22288 | Human | 284403 | Details Get a Quote |
| WDR62 Knockout A-549 Cell Line | EDJ-KQ23658 | Human | 284403 | Details Get a Quote |
| WDR62 Knockout HeLa Cell Line | EDJ-KQ23660 | Human | 284403 | Details Get a Quote |
| WDR6 Knockout HEK293 Cell Line | EDJ-KQ51051 | Human | 11180 | Details Get a Quote |
| WDR6 Knockout HeLa Cell Line | EDJ-KQ55595 | Human | 11180 | Details Get a Quote |
| WDR64 Knockout HeLa Cell Line | EDJ-KQ58223 | Human | 128025 | Details Get a Quote |
| WDR6 Knockout A-549 Cell Line | EDJ-KQ64091 | Human | 11180 | Details Get a Quote |
| WDR64 Knockout A-549 Cell Line | EDJ-KQ66712 | Human | 128025 | Details Get a Quote |
| WDR6 Knockout HCT 116 Cell Line | EDJ-KQ72541 | Human | 11180 | Details Get a Quote |
| WDR64 Knockout HCT 116 Cell Line | EDJ-KQ75123 | Human | 128025 | Details Get a Quote |
