SHROOM3

Chr 4q21.1

shroom family member 3

Aliases:: ShrmL, SHRM, KIAA1481, APXL3
MANE:: ENST00000296043.7

OMIM: 604570 ↗NCBI: 57619 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SHROOM3 · Q8TF72

v62025-08-01

Predicted Aligned Error matrix for SHROOM3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

43.9/ 100

Very low

1,996 residues

Confidence breakdown

Very high(≥ 90)10%
Confident(70–90)8%
Low(50–70)5%
Very low(< 50)77%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial non syndromic congenital heart disease
Unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial Neural Tube Defects

Disease associations (Open Targets)

neural tube defect
0.51
isolated spina bifida
0.51
atrial fibrillation
0.46
coronary artery disorder
0.42
hypertensive disorder
0.41
chronic kidney disease
0.41
cholelithiasis
0.38
metabolic disease
0.35
type 2 diabetes mellitus
0.35
Increased blood pressure
0.35

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

Protein function (UniProt)

Protein Shroom3

Controls cell shape changes in the neuroepithelium during neural tube closure. Induces apical constriction in epithelial cells by promoting the apical accumulation of F-actin and myosin II, and probably by bundling stress fibers (By similarity). Induces apicobasal cell elongation by redistributing gamma-tubulin and directing the assembly of robust apicobasal microtubule arrays (By similarity)