HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
WDR72
WD repeat domain 72
Chromosome 15 Β· 15q21.3
NCBI Gene: 256764Ensembl: ENSG00000166415.16HGNC: HGNC:26790UniProt: Q3MJ13
34PubMed Papers
21Diseases
0Drugs
47Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytoplasmprotein localization to plasma membranecytoplasmic vesicleHypomaturation amelogenesis imperfectaamelogenesis imperfectadistal renal tubular acidosischronic kidney disease
✦AI Summary

WDR72 (WD repeat domain 72) is a multifunctional protein with critical roles in both enamel development and renal acid-base homeostasis. Primarily, WDR72 plays a major role in tooth enamel formation, specifically during the maturation phase of amelogenesis 1. The protein localizes to the Golgi apparatus via a C-terminal CAAX motif and regulates endocytosis of vesicular transport and microtubule assembly necessary for membrane mobilization 23. This trafficking function is essential for clearance of enamel proteins and localization of the calcium transporter SLC24A4 to ameloblast cell membranes. WDR72 mutations cause amelogenesis imperfecta, characterized by brown-discolored, rough enamel with early loss after eruption 3. Beyond dental development, WDR72 is also involved in renal acid-base regulation; inherited forms of distal renal tubular acidosis (dRTA) are caused by WDR72 variants 45. Patients with WDR72-associated dRTA present with enamel hypoplasia, nephrolithiasis, nephrocalcinosis, and renal cysts 6, reflecting WDR72's expression in multiple organ systems including kidney, brain, liver, and heart 2. Clinically, recognizing WDR72-related defects is crucial for appropriate management of both dental and renal complications.

Sources cited
1
WDR72 mutations cause amelogenesis imperfecta, a genetic form of enamel defect
PMID: 39321764
2
WDR72 regulates endocytosis and vesicle trafficking in ameloblasts via microtubule assembly; it is expressed in kidney, brain, liver, and heart
PMID: 35181734
3
WDR72 localizes to the Golgi apparatus through a C-terminal CAAX motif and mutations cause brown-discolored, rough enamel with early loss after eruption
PMID: 35301423
4
Inherited forms of distal renal tubular acidosis are caused by variants in WDR72 and other genes
PMID: 37016093
5
WDR72 variants are associated with inherited forms of distal renal tubular acidosis
PMID: 39325135
6
WDR72 variants cause combined phenotype of amelogenesis imperfecta with dRTA, associated with enamel hypoplasia, nephrocalcinosis, renal calculi, and renal cysts
PMID: 40809612
Disease Associationsβ“˜21
Hypomaturation amelogenesis imperfectaOpen Targets
0.78Strong
amelogenesis imperfectaOpen Targets
0.74Strong
distal renal tubular acidosisOpen Targets
0.59Moderate
chronic kidney diseaseOpen Targets
0.53Moderate
kidney failureOpen Targets
0.49Moderate
nephrolithiasisOpen Targets
0.45Moderate
renal tubular acidosis, distal, 4, with hemolytic anemiaOpen Targets
0.45Moderate
recessive amelogenesis imperfectaOpen Targets
0.42Moderate
genetic disorderOpen Targets
0.42Moderate
Abnormality of metabolism/homeostasisOpen Targets
0.39Weak
diverticular diseaseOpen Targets
0.39Weak
autosomal recessive distal renal tubular acidosisOpen Targets
0.37Weak
hyperuricemiaOpen Targets
0.35Weak
smoking initiationOpen Targets
0.34Weak
hypophosphatemic ricketsOpen Targets
0.33Weak
urolithiasisOpen Targets
0.32Weak
proliferative diabetic retinopathyOpen Targets
0.32Weak
alcohol drinkingOpen Targets
0.30Weak
kidney diseaseOpen Targets
0.29Weak
VertigoOpen Targets
0.29Weak
Amelogenesis imperfecta, hypomaturation type, 2A3UniProt
Pathogenic Variants47
NM_182758.4(WDR72):c.2686C>T (p.Arg896Ter)Pathogenic
Renal tubular acidosis, distal, 4, with hemolytic anemia;Amelogenesis imperfecta hypomaturation type 2A3|Amelogenesis imperfecta hypomaturation type 2A3|Distal renal tubular acidosis|Renal tubulopathies
β˜…β˜…β˜†β˜†2026β†’ Residue 896
NM_182758.4(WDR72):c.88C>T (p.Arg30Ter)Pathogenic
Amelogenesis imperfecta|Amelogenesis imperfecta hypomaturation type 2A3|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 30
NM_182758.4(WDR72):c.2019dup (p.Trp674fs)Likely pathogenic
Amelogenesis imperfecta|Amelogenesis imperfecta hypomaturation type 2A3
β˜…β˜…β˜†β˜†2024β†’ Residue 674
NM_182758.4(WDR72):c.2934G>A (p.Trp978Ter)Pathogenic
Amelogenesis imperfecta hypomaturation type 2A3|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 978
NM_182758.4(WDR72):c.883G>A (p.Ala295Thr)Likely pathogenic
Amelogenesis imperfecta hypomaturation type 2A3
β˜…β˜†β˜†β˜†2026β†’ Residue 295
NM_182758.4(WDR72):c.2857del (p.Ser953fs)Pathogenic
Amelogenesis imperfecta hypomaturation type 2A3|Renal tubulopathies
β˜…β˜†β˜†β˜†2025β†’ Residue 953
NM_182758.4(WDR72):c.997A>T (p.Lys333Ter)Pathogenic
Amelogenesis imperfecta hypomaturation type 2A3
β˜…β˜†β˜†β˜†2024β†’ Residue 333
NM_182758.4(WDR72):c.2383_2385delinsCC (p.Ala795fs)Likely pathogenic
Amelogenesis imperfecta hypomaturation type 2A3
β˜…β˜†β˜†β˜†2024β†’ Residue 795
NM_182758.4(WDR72):c.552_554delinsGGTG (p.Lys185fs)Likely pathogenic
Amelogenesis imperfecta hypomaturation type 2A3
β˜…β˜†β˜†β˜†2024β†’ Residue 185
NM_182758.4(WDR72):c.591+1G>CLikely pathogenic
Amelogenesis imperfecta hypomaturation type 2A3
β˜…β˜†β˜†β˜†2024
NM_182758.4(WDR72):c.1467_1468del (p.Val491fs)Pathogenic
Amelogenesis imperfecta hypomaturation type 2A3
β˜…β˜†β˜†β˜†2024β†’ Residue 491
NM_182758.4(WDR72):c.1777dup (p.Arg593fs)Likely pathogenic
Amelogenesis imperfecta hypomaturation type 2A3
β˜…β˜†β˜†β˜†2024β†’ Residue 593
NM_182758.4(WDR72):c.2078T>A (p.Leu693Ter)Likely pathogenic
Amelogenesis imperfecta hypomaturation type 2A3
β˜…β˜†β˜†β˜†2024β†’ Residue 693
NM_182758.4(WDR72):c.711_711+1delinsTTLikely pathogenic
Amelogenesis imperfecta hypomaturation type 2A3
β˜…β˜†β˜†β˜†2024
NM_182758.4(WDR72):c.655C>T (p.Arg219Ter)Likely pathogenic
Amelogenesis imperfecta hypomaturation type 2A3
β˜…β˜†β˜†β˜†2024β†’ Residue 219
NM_182758.4(WDR72):c.868_880del (p.Lys290fs)Likely pathogenic
Amelogenesis imperfecta hypomaturation type 2A3
β˜…β˜†β˜†β˜†2024β†’ Residue 290
NM_182758.4(WDR72):c.858-2A>GLikely pathogenic
Amelogenesis imperfecta hypomaturation type 2A3
β˜…β˜†β˜†β˜†2024
NM_182758.4(WDR72):c.166G>T (p.Glu56Ter)Likely pathogenic
Amelogenesis imperfecta hypomaturation type 2A3
β˜…β˜†β˜†β˜†2024β†’ Residue 56
NM_182758.4(WDR72):c.1348+1G>TLikely pathogenic
Amelogenesis imperfecta hypomaturation type 2A3
β˜…β˜†β˜†β˜†2024
NM_182758.4(WDR72):c.858-1G>CLikely pathogenic
Amelogenesis imperfecta hypomaturation type 2A3
β˜…β˜†β˜†β˜†2024
View on ClinVar β†—
Related Genes
PACS1Shared pathway100%AMBNProtein interaction97%AMELXProtein interaction97%MMP20Protein interaction97%KLK4Protein interaction97%ENAMProtein interaction97%
Tissue Expression6 tissues
Liver
100%
Lung
1%
Ovary
0%
Heart
0%
Brain
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
WDR72PACS1AMBNAMELXMMP20KLK4ENAM
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q3MJ13
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.09LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.93 [0.79–1.09]
RankingsWhere WDR72 stands among ~20K protein-coding genes
  • #11,271of 20,598
    Most Researched34
  • #1,392of 5,498
    Most Pathogenic Variants47
  • #11,084of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedWDR72
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Developmental Defects of Enamel.
PMID: 39321764
Monogr Oral Sci Β· 2024
1.00
2
The pathophysiology of distal renal tubular acidosis.
PMID: 37016093
Nat Rev Nephrol Β· 2023
0.90
3
Study on the regulatory mechanism of luteolin inhibiting WDR72 on the proliferation and metastasis of non small cell lung cancer.
PMID: 40216870
Sci Rep Β· 2025
0.80
4
WDR72 regulates vesicle trafficking in ameloblasts.
PMID: 35181734
Sci Rep Β· 2022
0.70
5
Identification of the C-terminal region in Amelogenesis Imperfecta causative protein WDR72 required for Golgi localization.
PMID: 35301423
Sci Rep Β· 2022
0.60