AMOT (Angiomotin) Gene
Key regulator of angiogenesis, cell migration, and Hippo signaling pathway
Gene Information Card
| Symbol | AMOT |
|---|---|
| Full Name | Angiomotin |
| Gene Type | Protein coding |
| Chromosomal Location | Xq23 |
| NCBI Gene ID | 154796 ncbi.nlm.nih.gov/gene/154796 |
| Ensembl ID | ENSG00000101974 |
| UniProt ID | Q4VCS5 |
| OMIM ID | 300410 |
| HGNC ID | 17810 |
| Aliases | KIAA1071, MGC10731, dJ386N22.1 |
Description
The AMOT gene encodes angiomotin, a protein that regulates endothelial cell migration, tube formation, and angiogenesis. It is a component of tight junctions and modulates the Hippo signaling pathway by interacting with YAP1 and WWTR1 (TAZ). AMOT is involved in cell polarity, proliferation, and migration, and its dysregulation is associated with various cancers and vascular disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | AMOT overexpression or loss alters Hippo pathway activity, promoting cell proliferation and migration | COSMIC, ClinVar |
| Vascular malformations | Mutations in AMOT disrupt endothelial cell junction integrity and angiogenesis | OMIM, ClinVar |
| Intellectual disability | X-linked variants in AMOT have been associated with neurodevelopmental phenotypes | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Placenta | 10.8 | Medium |
| Kidney | 9.2 | Medium |
| Heart | 7.6 | Low |
| Brain | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 15.3 | High expression |
| A549 (lung cancer) | 8.7 | Moderate |
| HEK293 (embryonic kidney) | 6.4 | Low |
| MCF7 (breast cancer) | 4.2 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338Trp) | Missense | <0.01% | Unknown; reported in ClinVar |
| c.1450G>A (p.Glu484Lys) | Missense | <0.01% | Unknown; reported in ClinVar |
| c.1765_1766insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in AMOT are predicted to cause loss of protein function, impairing tight junction assembly and Hippo signaling.
Gain of Function (GOF)
Missense mutations that enhance AMOT stability or YAP1 binding may lead to constitutive activation of proliferative pathways.
Dominant Negative (DN)
Truncating mutations that retain YAP1 binding but disrupt membrane localization could act as dominant negatives.
View complete mutation data：
Gene Ontology (GO)
| • GO:0007155 – cell adhesion | • GO:0001525 – angiogenesis |
| • GO:0035329 – hippo signaling | • GO:0045216 – cell-cell junction organization |
| • GO:0051492 – regulation of stress fiber assembly |
Pathways
• Hippo signaling pathway (Reactome R-HSA-2028269)
• Tight junction interactions (KEGG hsa04530)
• Angiogenesis (KEGG hsa04370)
Protein Summary
Angiomotin is a 1086-amino acid protein containing a coiled-coil domain and a PDZ-binding motif. It localizes to tight junctions and the cytoplasm, where it binds YAP1 and TAZ to inhibit their nuclear translocation and transcriptional activity. Through this mechanism, AMOT suppresses cell proliferation and promotes contact inhibition. It also interacts with MAGI proteins and is involved in endothelial cell migration and tube formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AMOT Knockout HEK293 Cell Line | EDJ-KQ786 | Human | 154796 | Details Get a Quote |
| AMOTL1 Knockout HEK293 Cell Line | EDJ-KQ2176 | Human | 154810 | Details Get a Quote |
| AMOTL2 Knockout HEK293 Cell Line | EDJ-KQ11090 | Human | 51421 | Details Get a Quote |
| AMOTL2 Knockout A-549 Cell Line | EDJ-KQ39030 | Human | 51421 | Details Get a Quote |
| AMOTL2 Knockout HCT 116 Cell Line | EDJ-KQ39031 | Human | 51421 | Details Get a Quote |
| AMOTL2 Knockout HeLa Cell Line | EDJ-KQ39032 | Human | 51421 | Details Get a Quote |
| AMOT Knockout HCT 116 Cell Line | EDJ-KQ20841 | Human | 154796 | Details Get a Quote |
| AMOTL1 Knockout A-549 Cell Line | EDJ-KQ22387 | Human | 154810 | Details Get a Quote |
| AMOTL1 Knockout HCT 116 Cell Line | EDJ-KQ22388 | Human | 154810 | Details Get a Quote |
| AMOTL1 Knockout HeLa Cell Line | EDJ-KQ22389 | Human | 154810 | Details Get a Quote |
| AMOT Knockout HeLa Cell Line | EDJ-KQ58745 | Human | 154796 | Details Get a Quote |
| AMOT Knockout A-549 Cell Line | EDJ-KQ67231 | Human | 154796 | Details Get a Quote |
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