WDR72

Chr 15q21.3

WD repeat domain 72

Aliases:: FLJ38736
MANE:: ENST00000360509.10

OMIM: 613214 ↗NCBI: 256764 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

WDR72 · Q3MJ13

v62025-08-01

Predicted Aligned Error matrix for WDR72 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

66.8/ 100

Low

1,102 residues

Confidence breakdown

Very high(≥ 90)17%
Confident(70–90)43%
Low(50–70)10%
Very low(< 50)30%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Amelogenesis imperfecta
BIALLELIC, autosomal or pseudoautosomal
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease - additional genes
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Hypomaturation amelogenesis imperfecta
0.78
amelogenesis imperfecta
0.74
distal renal tubular acidosis
0.60
chronic kidney disease
0.53
kidney failure
0.49
nephrolithiasis
0.47
renal tubular acidosis, distal, 4, with hemolytic anemia
0.45
hereditary disease
0.42
Abnormality of metabolism/homeostasis
0.41
diverticular disease
0.40

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

WD repeat-containing protein 72

Plays a major role in formation of tooth enamel (PubMed:19853237, PubMed:25008349). Specifically required during the maturation phase of amelogenesis for normal formation of the enamel matrix and clearance of enamel proteins. May be involved in localization of the calcium transporter SLC24A4 to the ameloblast cell membrane