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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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WDR26
WD repeat domain 26
Chromosome 1 · 1q42.11-q42.12
NCBI Gene: 80232Ensembl: ENSG00000162923.18HGNC: HGNC:21208UniProt: A0A499FIZ0
135PubMed Papers
21Diseases
0Drugs
62Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ubiquitin ligase complexprotein bindingcytosolnucleusSkraban-Deardorff syndromeneurodegenerative diseasegenetic disorderIntellectual disability
✦AI Summary

WDR26 (WD repeat domain 26) is a β-propeller scaffolding protein and core component of the CTLH E3 ubiquitin-protein ligase complex 1. As a multifunctional regulator, WDR26 controls substrate selectivity within the CTLH complex through its oligomeric association, recognizing substrates with Pro/N-degron and internal basic degron motifs 2. The protein mediates ubiquitination and proteasomal degradation of diverse targets including transcription factors and metabolic enzymes 3. WDR26 negatively regulates AMPK activity, suppressing autophagic flux and metabolic stress responses 4, while also restraining anti-microbial immunity by limiting GABAergic signaling and autophagy during intracellular bacterial infection 5. At the chr1 level, WDR26 depletion causes widespread alterations in chr1 accessibility and gene expression, particularly affecting AP-1 and NF-κB-regulated genes 6. WDR26 participates in the CUL4B-DDB1 ubiquitin ligase complex, modulating post-translational modifications and inflammatory signaling 7. Clinically, WDR26 mutations cause Skraban-Deardorff syndrome, an intellectual disability disorder where both truncating and missense variants reduce protein stability, impairing cell proliferation and CTLH complex assembly 3. Additionally, WDR26 variants associate with drug-resistant focal epilepsy, suggesting roles in seizure susceptibility and anti-seizure medication response 8.

Sources cited
1
WDR26 is a β-propeller subunit and core component of the CTLH E3 ligase complex that controls substrate selectivity through multimerization
PMID: 39702571
2
WDR26 mediates non-canonical substrate recognition and ubiquitylation of NMNAT1 with an internal basic degron motif
PMID: 38759627
3
WDR26 mutations cause Skraban-Deardorff syndrome; both truncating and missense variants reduce protein stability and impair cell proliferation
PMID: 40826479
4
WDR26 is part of the GID/CTLH complex that negatively regulates AMPK activity and suppresses autophagy
PMID: 31795790
5
WDR26 in the GID/CTLH complex suppresses anti-microbial immunity and host defenses against intracellular bacteria
PMID: 39472457
6
WDR26 loss alters chromatin accessibility and gene expression, particularly affecting AP-1 and NF-κB-regulated genes
PMID: 39837355
7
WDR26 participates in the CUL4B-DDB1 ubiquitin ligase complex and modulates STAT3-S100A7A signaling
PMID: 40707439
8
WDR26 variants are associated with drug-resistant focal epilepsy and may regulate seizure susceptibility and anti-seizure medication response
PMID: 40240269
Disease Associationsⓘ21
Skraban-Deardorff syndromeOpen Targets
0.81Strong
neurodegenerative diseaseOpen Targets
0.54Moderate
genetic disorderOpen Targets
0.52Moderate
Intellectual disabilityOpen Targets
0.50Moderate
type 2 diabetes mellitusOpen Targets
0.29Weak
gastritisOpen Targets
0.28Weak
spermatoceleOpen Targets
0.22Weak
Prolonged QT intervalOpen Targets
0.14Weak
neurofibromatosis type 1Open Targets
0.12Weak
breast cancerOpen Targets
0.09Suggestive
Alzheimer diseaseOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
cervical carcinomaOpen Targets
0.06Suggestive
metabolic syndromeOpen Targets
0.05Suggestive
cancerOpen Targets
0.05Suggestive
cystic fibrosisOpen Targets
0.04Suggestive
lung cancerOpen Targets
0.04Suggestive
infectionOpen Targets
0.04Suggestive
asthmaOpen Targets
0.03Suggestive
alcohol drinkingOpen Targets
0.03Suggestive
Skraban-Deardorff syndromeUniProt
Pathogenic Variants62
NM_001379403.1(WDR26):c.1974_1975del (p.Arg658fs)Pathogenic
Skraban-Deardorff syndrome
★★☆☆2024→ Residue 658
NM_001379403.1(WDR26):c.2204A>G (p.Asp735Gly)Pathogenic
not provided|Skraban-Deardorff syndrome
★★☆☆2023→ Residue 735
NM_001379403.1(WDR26):c.2093G>A (p.Trp698Ter)Pathogenic
Skraban-Deardorff syndrome
★☆☆☆2025→ Residue 698
NM_001379403.1(WDR26):c.1930_1932delinsTTA (p.Asn644Leu)Likely pathogenic
not provided
★☆☆☆2025→ Residue 644
NM_001379403.1(WDR26):c.1352T>C (p.Leu451Pro)Likely pathogenic
not provided
★☆☆☆2025→ Residue 451
NM_001379403.1(WDR26):c.807_810del (p.Gly270fs)Pathogenic
Skraban-Deardorff syndrome
★☆☆☆2025→ Residue 270
NM_001379403.1(WDR26):c.1944+5G>APathogenic
Skraban-Deardorff syndrome
★☆☆☆2025
NM_001379403.1(WDR26):c.2128del (p.Thr710fs)Likely pathogenic
Skraban-Deardorff syndrome
★☆☆☆2025→ Residue 710
NM_001379403.1(WDR26):c.2075-23_2075-22insGAGAGAGTGAGGAGAAGGCLikely pathogenic
Skraban-Deardorff syndrome
★☆☆☆2024
NM_001379403.1(WDR26):c.1945-2A>GPathogenic
not provided
★☆☆☆2024
NM_001379403.1(WDR26):c.944T>G (p.Leu315Arg)Likely pathogenic
not provided
★☆☆☆2024→ Residue 315
NM_001379403.1(WDR26):c.1354dup (p.Thr452fs)Pathogenic
not provided
★☆☆☆2024→ Residue 452
NM_001379403.1(WDR26):c.130del (p.Ala44fs)Likely pathogenic
Skraban-Deardorff syndrome
★☆☆☆2023→ Residue 44
NM_001379403.1(WDR26):c.1849del (p.Thr618fs)Pathogenic
Inborn genetic diseases
★☆☆☆2023→ Residue 618
NM_001379403.1(WDR26):c.1204C>T (p.Gln402Ter)Pathogenic
WDR26-related disorder
★☆☆☆2022→ Residue 402
NM_001379403.1(WDR26):c.1376G>A (p.Trp459Ter)Pathogenic
Skraban-Deardorff syndrome
★☆☆☆2022→ Residue 459
NM_001379403.1(WDR26):c.834_838del (p.Asp278fs)Pathogenic
Skraban-Deardorff syndrome
★☆☆☆2022→ Residue 278
NM_001379403.1(WDR26):c.1881dup (p.Pro628fs)Likely pathogenic
Skraban-Deardorff syndrome
★☆☆☆2022→ Residue 628
NM_001379403.1(WDR26):c.1446G>A (p.Trp482Ter)Likely pathogenic
Skraban-Deardorff syndrome
★☆☆☆2022→ Residue 482
NM_001379403.1(WDR26):c.1776G>A (p.Trp592Ter)Pathogenic
Inborn genetic diseases
★☆☆☆2022→ Residue 592
View on ClinVar ↗
Related Genes
KBTBD13Shared pathway100%LRRC75AShared pathway100%KLHL30Shared pathway100%KLHL38Shared pathway100%KLHL10Shared pathway100%KLHL35Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
66%
Brain
54%
Heart
53%
Ovary
39%
Liver
39%
Gene Interaction Network
Click a node to explore
WDR26KBTBD13LRRC75AKLHL30KLHL38KLHL10KLHL35
PROTEIN STRUCTURE
Preparing viewer…
PDB8QBN · 3.20 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.14Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.07 [0.04–0.14]
RankingsWhere WDR26 stands among ~20K protein-coding genes
  • #3,444of 20,598
    Most Researched135 · top quartile
  • #1,142of 5,498
    Most Pathogenic Variants62 · top quartile
  • #186of 17,882
    Most Constrained (LOEUF)0.14 · top 5%
Genes detectedWDR26
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genome-wide association meta-analyses of drug-resistant epilepsy.
PMID: 40240269
EBioMedicine · 2025
1.00
2
WDR26 depletion alters chromatin accessibility and gene expression profiles in mammalian cells.
PMID: 39837355
Genomics · 2025
0.90
3
Interplay between β-propeller subunits WDR26 and muskelin regulates the CTLH E3 ligase supramolecular complex.
PMID: 39702571
Commun Biol · 2024
0.80
4
Non-canonical substrate recognition by the human WDR26-CTLH E3 ligase regulates prodrug metabolism.
PMID: 38759627
Mol Cell · 2024
0.70
5
Renal tubular GSDME protects cisplatin nephrotoxicity by impeding OGT-STAT3-S100A7A axis in male mice.
PMID: 40707439
Nat Commun · 2025
0.60