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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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WDR4
WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit
Chromosome 21 Β· 21q22.3
NCBI Gene: 10785Ensembl: ENSG00000160193.13HGNC: HGNC:12756UniProt: P57081
57PubMed Papers
22Diseases
0Drugs
18Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
tRNA methyltransferase complexenzyme activator activitytRNA modificationtRNA (m7G46) methyltransferase complexGalloway-Mowat syndromemicrocephaly, growth deficiency, seizures, and brain malformationsgenetic disorderplacental retention
✦AI Summary

WDR4 is a non-catalytic scaffold subunit of the METTL1-WDR4 methyltransferase complex that catalyzes N7-methylguanine (m7G) formation in transfer RNAs and other RNA species 12. Within this complex, WDR4 serves as a tRNA-binding scaffold that positions substrates for methylation at position 46 (m7G46) in tRNAs containing the 5'-RAGGU-3' motif within the variable loop 3. This modification stabilizes tRNA tertiary structure and protects tRNAs from decay 12. WDR4 also facilitates m7G modification of specific mRNAs and miRNAs 1. Beyond its role in the METTL1 complex, WDR4 independently regulates selective mRNA translation through direct interaction with eIF4E2, promoting cholesterol efflux in tumor-associated macrophages 4. Dysregulation of WDR4 is clinically significant in multiple cancers. WDR4 upregulation promotes lenvatinib resistance in hepatocellular carcinoma and resistance to immunotherapy in breast cancer 56. WDR4 overexpression enhances translation of oncogenic transcripts including EGFR pathway genes, driving cancer progression 7. Additionally, WDR4 mutations cause developmental disorders including Galloway-Mowat syndrome 6 and microcephaly 2. Loss of METTL1-WDR4 function impairs cellular senescence prevention and accelerates aging phenotypes by reducing tRNA stability and translation efficiency 8.

Sources cited
1
WDR4 acts as a scaffold for METTL1 and tRNA binding; m7G46 stabilizes tRNA structure and protects from decay
PMID: 36599982
2
WDR4 serves as scaffold for tRNA T-arm binding; mutations cause developmental phenotypes including microcephaly
PMID: 36599985
3
m7G tRNA modification targets RAGGU motif; METTL1/WDR4 knockout affects cell cycle gene translation and neural differentiation
PMID: 29983320
4
METTL1/WDR4 upregulation promotes lenvatinib resistance in hepatocellular carcinoma via EGFR pathway translation
PMID: 36102722
5
METTL1/WDR4 selectively regulates translation of oncogenic transcripts including EGFR pathway genes in intrahepatic cholangiocarcinoma
PMID: 34352206
6
WDR4 inhibition impairs breast cancer progression and regulates cell cycle and mTORC1 signaling via m7G modification
PMID: 38960276
7
WDR4 independently acts via eIF4E2 interaction to promote selective ABCA1 translation and cholesterol efflux in tumor-associated macrophages
PMID: 41315768
8
METTL1-WDR4-mediated m7G modification prevents senescence by maintaining tRNA stability and translation efficiency
PMID: 38977661
Disease Associationsβ“˜22
Galloway-Mowat syndromeOpen Targets
0.73Strong
microcephaly, growth deficiency, seizures, and brain malformationsOpen Targets
0.70Strong
genetic disorderOpen Targets
0.42Moderate
placental retentionOpen Targets
0.34Weak
Abruptio PlacentaeOpen Targets
0.31Weak
hepatocellular carcinomaOpen Targets
0.11Weak
breast cancerOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
prostate cancerOpen Targets
0.08Suggestive
acute myeloid leukemiaOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.08Suggestive
urinary bladder carcinomaOpen Targets
0.07Suggestive
head and neck squamous cell carcinomaOpen Targets
0.07Suggestive
infectious arthritisOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
Wilms tumorOpen Targets
0.06Suggestive
Genu valgumOpen Targets
0.06Suggestive
papillary thyroid carcinomaOpen Targets
0.06Suggestive
Genu varumOpen Targets
0.06Suggestive
rhizomelic chondrodysplasia punctata type 3Open Targets
0.05Suggestive
Galloway-Mowat syndrome 6UniProt
Microcephaly, growth deficiency, seizures, and brain malformationsUniProt
Pathogenic Variants18
NM_018669.6(WDR4):c.509G>A (p.Arg170Gln)Likely pathogenic
Galloway-Mowat syndrome 6|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 170
NM_018669.6(WDR4):c.627+2T>CLikely pathogenic
not provided|Galloway-Mowat syndrome 6;Microcephaly, growth deficiency, seizures, and brain malformations
β˜…β˜…β˜†β˜†2024
NM_018669.6(WDR4):c.715dup (p.Gln239fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 239
NM_018669.6(WDR4):c.797dup (p.Val267fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 267
NM_018669.6(WDR4):c.727-331G>TLikely pathogenic
Galloway-Mowat syndrome 6
β˜…β˜†β˜†β˜†2024
NM_018669.6(WDR4):c.453+2_453+8delinsCAGGTGTLikely pathogenic
WDR4-related disorder
β˜…β˜†β˜†β˜†2024
NM_018669.6(WDR4):c.453+2T>CLikely pathogenic
WDR4-related disorder
β˜…β˜†β˜†β˜†2024
NM_018669.6(WDR4):c.499G>T (p.Glu167Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 167
NM_018669.6(WDR4):c.508C>T (p.Arg170Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 170
NM_018669.6(WDR4):c.779_786del (p.Leu260fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2022β†’ Residue 260
NM_018669.6(WDR4):c.428G>A (p.Gly143Glu)Likely pathogenic
Galloway-Mowat syndrome 6
β˜…β˜†β˜†β˜†2022β†’ Residue 143
NM_018669.6(WDR4):c.1159C>T (p.Gln387Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 387
NM_018669.6(WDR4):c.454-2A>CLikely pathogenic
Galloway-Mowat syndrome 6|Galloway-Mowat syndrome
β˜…β˜†β˜†β˜†2020
NM_018669.6(WDR4):c.1A>G (p.Met1Val)Likely pathogenic
Microcephaly, growth deficiency, seizures, and brain malformations
β˜…β˜†β˜†β˜†β†’ Residue 1
NM_018669.6(WDR4):c.911_927dup (p.Gln310fs)Pathogenic
Galloway-Mowat syndrome 6|not provided
β˜…β˜†β˜†β˜†β†’ Residue 310
NM_018669.6(WDR4):c.509_510delinsTT (p.Arg170Leu)Likely pathogenic
Galloway-Mowat syndrome 6
β˜†β˜†β˜†β˜†2023β†’ Residue 170
NM_018669.6(WDR4):c.491A>C (p.Asp164Ala)Pathogenic
Galloway-Mowat syndrome 6
β˜†β˜†β˜†β˜†2019β†’ Residue 164
NM_018669.6(WDR4):c.940dup (p.Leu314fs)Pathogenic
Galloway-Mowat syndrome 6
β˜†β˜†β˜†β˜†2019β†’ Residue 314
View on ClinVar β†—
Related Genes
DTWD2Shared pathway100%QNG1Shared pathway100%QTRT1Shared pathway100%QTRT2Shared pathway100%DTWD1Shared pathway100%THUMPD1Shared pathway100%
Tissue Expression6 tissues
Liver
100%
Ovary
98%
Bone Marrow
97%
Lung
85%
Heart
59%
Brain
54%
Gene Interaction Network
Click a node to explore
WDR4DTWD2QNG1QTRT1QTRT2DTWD1THUMPD1
PROTEIN STRUCTURE
Preparing viewer…
PDB8H0N Β· 1.80 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.35LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.06 [0.84–1.35]
RankingsWhere WDR4 stands among ~20K protein-coding genes
  • #8,031of 20,598
    Most Researched57
  • #2,290of 5,498
    Most Pathogenic Variants18
  • #14,125of 17,882
    Most Constrained (LOEUF)1.35
Genes detectedWDR4
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
METTL1-Mediated m7G tRNA Modification Promotes Lenvatinib Resistance in Hepatocellular Carcinoma.
PMID: 36102722
Cancer Res Β· 2023
1.00
2
Structures and mechanisms of tRNA methylation by METTL1-WDR4.
PMID: 36599982
Nature Β· 2023
0.90
3
Structural basis of regulated m
PMID: 36599985
Nature Β· 2023
0.80
4
RNA modification gene WDR4 facilitates tumor progression and immunotherapy resistance in breast cancer.
PMID: 38960276
J Adv Res Β· 2025
0.70
5
N
PMID: 34352206
Mol Cell Β· 2021
0.60