SHROOM4

Chr Xp11.22

shroom family member 4

Aliases:: KIAA1202, Shrm4, SHAP
MANE:: ENST00000376020.9

OMIM: 300579 ↗NCBI: 57477 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SHROOM4 · Q9ULL8

v62025-08-01

Predicted Aligned Error matrix for SHROOM4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

47.1/ 100

Very low

1,493 residues

Confidence breakdown

Very high(≥ 90)14%
Confident(70–90)8%
Low(50–70)5%
Very low(< 50)74%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

X-linked intellectual disability, Stocco dos Santos type
0.48
insomnia
0.38
Abnormal corpus callosum morphology
0.37
neurodegenerative disease
0.33
epilepsy
0.19
neurodevelopmental disorder
0.19
Alzheimer disease
0.18
multiple sclerosis
0.18
Parkinson disease
0.18
lysosomal storage disease
0.18

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

Protein function (UniProt)

Protein Shroom4

Probable regulator of cytoskeletal architecture that plays an important role in development. May regulate cellular and cytoskeletal architecture by modulating the spatial distribution of myosin II (By similarity)