WDR26 Gene: WD Repeat Domain 26 - Function, Disease Associations, and Expression
Comprehensive biomedical resource for WDR26 (WD Repeat Domain 26), including gene card, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | WDR26 |
|---|---|
| Full Name | WD repeat domain 26 |
| Gene Type | protein coding |
| Chromosomal Location | 1q42.12 |
| NCBI Gene ID | 80232 ncbi.nlm.nih.gov/gene/80232 |
| Ensembl ID | ENSG00000162923 |
| UniProt ID | Q9H7D7 |
| OMIM ID | 617424 |
| HGNC ID | 21208 |
| Aliases | MGC117215, MGC126732, MGC138320, bA157J15.1 |
Description
WDR26 (WD repeat domain 26) is a protein-coding gene located on chromosome 1q42.12. It encodes a member of the WD repeat protein family, characterized by conserved WD40 repeats that mediate protein-protein interactions. WDR26 is involved in various cellular processes including signal transduction, cell proliferation, and apoptosis. Mutations in WDR26 are associated with Skraban-Deardorff syndrome, a neurodevelopmental disorder. The gene is widely expressed in multiple tissues, with highest expression in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Skraban-Deardorff syndrome | Loss-of-function mutations (nonsense, frameshift, splice-site) lead to haploinsufficiency, disrupting WDR26 function in neuronal development and signaling pathways. | ClinVar, OMIM (617424) |
| Intellectual disability | Pathogenic variants in WDR26 cause autosomal dominant intellectual disability, often with speech delay and facial dysmorphism. | ClinVar, OMIM |
| Seizures | WDR26 mutations are associated with seizures in some patients, likely due to altered neuronal excitability. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.3 | High |
| Testis | 10.8 | High |
| Kidney | 8.5 | Medium |
| Liver | 6.2 | Medium |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression in embryonic kidney cells |
| K562 | 8.7 | Moderate expression in leukemia cells |
| HeLa | 7.3 | Moderate expression in cervical cancer cells |
| A549 | 5.9 | Low expression in lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1264C>T (p.Arg422Ter) | Nonsense | Rare (not reported in gnomAD) | Premature stop codon, likely loss-of-function |
| c.1000_1001del (p.Leu334ValfsTer3) | Frameshift | Rare | Frameshift leading to truncated protein |
| c.1183+1G>A | Splice-site | Rare | Disrupts splicing, likely loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic WDR26 mutations are loss-of-function, leading to haploinsufficiency. This is the primary mechanism for Skraban-Deardorff syndrome.
Gain of Function (GOF)
No evidence of gain-of-function mutations in WDR26.
Dominant Negative (DN)
No evidence of dominant-negative effects; loss-of-function is the predominant mechanism.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • signal transduction |
| • cell proliferation | • apoptotic process |
| • WD40-repeat domain binding |
Pathways
• MAPK signaling pathway
• Wnt signaling pathway
• Apoptosis
Protein Summary
The WDR26 protein contains multiple WD40 repeats, which form a beta-propeller structure that serves as a scaffold for protein-protein interactions. It is involved in regulating cell signaling, particularly the MAPK and Wnt pathways, and plays a role in cell survival and proliferation. WDR26 is ubiquitously expressed, with high levels in brain and testis, suggesting important functions in neuronal development and spermatogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WDR26 Knockout HEK293 Cell Line | EDJ-KQ9502 | Human | 80232 | Details Get a Quote |
| WDR26 Knockout A-549 Cell Line | EDJ-KQ36248 | Human | 80232 | Details Get a Quote |
| WDR26 Knockout HCT 116 Cell Line | EDJ-KQ36249 | Human | 80232 | Details Get a Quote |
| WDR26 Knockout HeLa Cell Line | EDJ-KQ36250 | Human | 80232 | Details Get a Quote |
