AMOT

Chr Xq23

angiomotin

Aliases:: KIAA1071
MANE:: ENST00000371959.9

OMIM: 300410 ↗NCBI: 154796 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

AMOT · Q4VCS5

v62025-08-01

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

Mean pLDDT

56.8/ 100

Low

1,084 residues

Confidence breakdown

Very high(≥ 90)23%
Confident(70–90)11%
Low(50–70)7%
Very low(< 50)60%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Fetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

neurodegenerative disease
0.53
Rare genetic intellectual disability with developmental anomaly
0.27
enthesopathy
0.24
congenital hydrocephalus
0.19
neoplasm
0.09
renal cell carcinoma
0.07
colorectal carcinoma
0.07
osteosarcoma
0.07
Rare genetic vascular disease
0.05
familial thoracic aortic aneurysm and aortic dissection
0.05

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

Protein function (UniProt)

Angiomotin

Plays a central role in tight junction maintenance via the complex formed with ARHGAP17, which acts by regulating the uptake of polarity proteins at tight junctions. Appears to regulate endothelial cell migration and tube formation. May also play a role in the assembly of endothelial cell-cell junctions. Repressor of YAP1 and WWTR1/TAZ transcription of target genes, potentially via regulation of Hippo signaling-mediated phosphorylation of YAP1 which results in its recruitment to tight junctions (PubMed:21205866)