HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
WDR12
WD repeat domain 12
Chromosome 2 · 2q33.2
NCBI Gene: 55759Ensembl: ENSG00000138442.12HGNC: HGNC:14098UniProt: Q53T99
96PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmaturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)regulation of cell cyclenucleoplasmneurodegenerative diseasecoronary artery diseasemyocardial infarctionstroke
✦AI Summary

WDR12 (WD repeat domain 12) is a component of the PeBoW complex essential for ribosomal RNA processing and ribosome biogenesis 1. As a WD-repeat protein, WDR12 functions in the maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosomal subunit, with the complex controlling nucleolar localization and pre-ribosome association 1. Beyond its canonical ribosomal function, WDR12 has emerged as a key player in multiple disease contexts. Mutations in WDR12 cause tapered sperm head morphology, contributing to male infertility and teratozoospermia 2. In cardiovascular disease, WDR12 is implicated in lacunar stroke pathogenesis, with genetic associations identified in genome-wide studies involving 7,338 cases and 254,798 controls 3. In cancer biology, WDR12 functions as an oncogene across multiple malignancies. In colorectal cancer, WDR12 is highly expressed and promotes tumor progression through the WDR12/RAC1 axis, enhancing proliferation and inhibiting apoptosis 4. Similarly, in glioblastoma, elevated WDR12 expression correlates with reduced survival and promotes proliferation through cell cycle regulation involving PLK1 and EZH2 5. Pan-cancer analysis demonstrates WDR12 as a prognostic biomarker with expression patterns correlating with immune infiltration and tumor mutation burden 6. Additionally, WDR12 participates in myocardial ischemia-reperfusion injury through the circMIRIAF/miR-544/WDR12 axis, regulating oxidative stress and inflammation via Notch1 signaling 7.

Sources cited
1
WDR12 is a component of the PeBoW complex required for maturation of 28S and 5.8S rRNA and 60S ribosomal subunit assembly
PMID: 17353269
2
Mutations in WDR12 gene cause tapered sperm head morphology in male infertility
PMID: 39417902
3
WDR12 locus is associated with lacunar stroke in genome-wide association studies of 7,338 cases and 254,798 controls
PMID: 33773637
4
WDR12 promotes colorectal cancer proliferation and anti-apoptosis through the WDR12/RAC1 axis and cell cycle regulation
PMID: 38341833
5
WDR12 is highly expressed in glioblastoma and associated with poor survival through cell cycle promotion involving PLK1 and EZH2
PMID: 32180229
6
WDR12 serves as a pan-cancer prognostic biomarker with expression correlating with immune cell infiltration and tumor burden
PMID: 36726716
7
WDR12 is regulated by the circMIRIAF/miR-544 axis and promotes myocardial ischemia-reperfusion injury via Notch1 signaling
PMID: 38795544
8
WDR12 is highly expressed in colorectal cancer samples and involved in colorectal neoplasm progression
PMID: 39969382
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.46Moderate
coronary artery diseaseOpen Targets
0.41Moderate
myocardial infarctionOpen Targets
0.34Weak
strokeOpen Targets
0.32Weak
poisoningOpen Targets
0.29Weak
hemolytic anemiaOpen Targets
0.28Weak
migraine disorderOpen Targets
0.26Weak
coronary atherosclerosisOpen Targets
0.25Weak
heart failureOpen Targets
0.16Weak
Alzheimer diseaseOpen Targets
0.14Weak
small vessel strokeOpen Targets
0.13Weak
cerebrovascular disorderOpen Targets
0.13Weak
intermediate coronary syndromeOpen Targets
0.13Weak
Myocardial IschemiaOpen Targets
0.12Weak
Ischemic strokeOpen Targets
0.11Weak
angina pectorisOpen Targets
0.11Weak
chronic bronchitisOpen Targets
0.10Weak
diverticular diseaseOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.10Suggestive
smoking initiationOpen Targets
0.09Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MDN1Protein interaction100%RPF1Protein interaction100%MAK16Protein interaction99%IMP4Protein interaction97%NOC3LProtein interaction96%NIFKProtein interaction96%
Tissue Expression6 tissues
Brain
100%
Heart
98%
Bone Marrow
79%
Liver
72%
Ovary
53%
Lung
44%
Gene Interaction Network
Click a node to explore
WDR12MDN1RPF1MAK16IMP4NOC3LNIFK
PROTEIN STRUCTURE
Preparing viewer…
PDB6P0Q · 1.72 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.90LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.67 [0.51–0.90]
RankingsWhere WDR12 stands among ~20K protein-coding genes
  • #5,011of 20,598
    Most Researched96 · top quartile
  • #8,162of 17,882
    Most Constrained (LOEUF)0.90
Genes detectedWDR12
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic etiological spectrum of sperm morphological abnormalities.
PMID: 39417902
J Assist Reprod Genet · 2024
1.00
2
circMIRIAF aggravates myocardial ischemia-reperfusion injury via targeting miR-544/WDR12 axis.
PMID: 38795544
Redox Biol · 2024
0.90
3
Genetic basis of lacunar stroke: a pooled analysis of individual patient data and genome-wide association studies.
PMID: 33773637
Lancet Neurol · 2021
0.80
4
Integrative analysis of WDR12 as a potential prognostic and immunological biomarker in multiple human tumors.
PMID: 36726716
Front Genet · 2022
0.70
5
Roles of WDR12 and MRTO4 genes in colorectal cancer.
PMID: 39969382
Medicine (Baltimore) · 2024
0.60