WDR47: WD Repeat Domain 47
A gene encoding a protein involved in neuronal development and ciliary function
Gene Information Card
| Symbol | WDR47 |
|---|---|
| Full Name | WD repeat domain 47 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p13.3 |
| NCBI Gene ID | 22911 ncbi.nlm.nih.gov/gene/22911 |
| Ensembl ID | ENSG00000185499 |
| UniProt ID | Q9BWK5 |
| OMIM ID | 618182 |
| HGNC ID | 29105 |
| Aliases | C1orf167, WDR47L, dJ402H5.2 |
Description
WDR47 (WD repeat domain 47) is a protein-coding gene located on chromosome 1p13.3. The encoded protein contains multiple WD40 repeats and is involved in microtubule dynamics, neuronal migration, and ciliary assembly. Mutations in WDR47 have been associated with neurodevelopmental disorders and ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and cortical malformations | Loss-of-function mutations impair neuronal migration and cortical development | ClinVar, OMIM |
| Primary ciliary dyskinesia | Disruption of ciliary assembly due to WDR47 deficiency | UniProt, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuronal) | 15.0 | High expression |
| HeLa (cervical) | 7.8 | Moderate |
| HEK293 (embryonic kidney) | 6.5 | Moderate |
| A549 (lung) | 4.2 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; associated with neurodevelopmental disorder |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Loss of function; impaired ciliary assembly |
| c.890G>A (p.Arg297His) | Missense | 0.02% | Unknown; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, causing neurodevelopmental defects and ciliary dysfunction.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • centrosome (GO:0005813) |
| • cilium (GO:0005929) | • cell projection organization (GO:0030030) |
| • neuron projection (GO:0043005) | • ciliary basal body (GO:0071535) |
Pathways
• REACT:2134495 (Cilium assembly)
• REACT:2134496 (Intraflagellar transport)
• REACT:2134497 (Microtubule-based movement)
Protein Summary
The WDR47 protein is a WD40 repeat-containing protein that localizes to the centrosome and ciliary basal body. It plays a critical role in microtubule organization, neuronal migration, and ciliogenesis. Loss of WDR47 function disrupts these processes, leading to neurodevelopmental disorders and ciliary defects.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WDR47 Knockout HEK293 Cell Line | EDJ-KQ7736 | Human | 22911 | Details Get a Quote |
| WDR47 Knockout A-549 Cell Line | EDJ-KQ33159 | Human | 22911 | Details Get a Quote |
| WDR47 Knockout HCT 116 Cell Line | EDJ-KQ33160 | Human | 22911 | Details Get a Quote |
| WDR47 Knockout HeLa Cell Line | EDJ-KQ33161 | Human | 22911 | Details Get a Quote |
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