WDR72
WD Repeat Domain 72: A Key Regulator of Amelogenesis and Kidney Function
Gene Information Card
| Symbol | WDR72 |
|---|---|
| Full Name | WD Repeat Domain 72 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q21.3 |
| NCBI Gene ID | 256764 ncbi.nlm.nih.gov/gene/256764 |
| Ensembl ID | ENSG00000167106 |
| UniProt ID | Q6MZM9 |
| OMIM ID | 613214 |
| HGNC ID | 25676 |
| Aliases | FLJ32942, MGC138499 |
Description
WDR72 encodes a protein containing WD40 repeats, which are involved in protein-protein interactions. It is essential for enamel maturation during tooth development and has been implicated in kidney function. Mutations in WDR72 cause autosomal recessive amelogenesis imperfecta type 2A3 and are associated with nephrocalcinosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amelogenesis Imperfecta Type 2A3 (AI2A3) | Loss-of-function mutations disrupt enamel maturation, leading to hypomaturation enamel defects. | OMIM #613214; ClinVar |
| Nephrocalcinosis | WDR72 mutations impair endosomal recycling in kidney cells, causing calcium deposition. | OMIM #613214; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Salivary Gland | 8.2 | Low |
| Testis | 6.0 | Low |
| Thyroid | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Embryonic kidney cell line |
| HPAF-II | 7.5 | Pancreatic cancer cell line |
| A-431 | 5.0 | Epidermoid carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1544C>T (p.Pro515Leu) | Missense | Rare | Loss of function; associated with AI2A3 |
| c.2269C>T (p.Arg757*) | Nonsense | Rare | Premature stop; loss of function |
| c.1012G>A (p.Gly338Arg) | Missense | Rare | Impaired protein stability |
Mutation functional classification
Loss of Function (LOF)
Most WDR72 mutations are loss-of-function, leading to defective enamel maturation and nephrocalcinosis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • Protein binding (GO:0005515) | • Intracellular protein transport (GO:0006886) |
| • Endosome to lysosome transport (GO:0008333) |
Pathways
• Endosomal recycling pathway
• Amelogenesis
Protein Summary
WDR72 is a 1,102-amino-acid protein with multiple WD40 repeats that facilitate protein interactions. It localizes to endosomes and is involved in vesicle trafficking, critical for enamel matrix protein degradation and kidney ion transport.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WDR72 Knockout HEK293 Cell Line | EDJ-KQ11845 | Human | 256764 | Details Get a Quote |
| WDR72 Knockout HCT 116 Cell Line | EDJ-KQ39024 | Human | 256764 | Details Get a Quote |
| WDR72 Knockout A-549 Cell Line | EDJ-KQ40271 | Human | 256764 | Details Get a Quote |
| WDR72 Knockout HeLa Cell Line | EDJ-KQ40272 | Human | 256764 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
