AMIGO3
Adhesion Molecule with Ig-like Domain 3
Gene Information Card
| Symbol | AMIGO3 |
|---|---|
| Full Name | Adhesion Molecule with Ig-like Domain 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p14.2 |
| NCBI Gene ID | 386724 ncbi.nlm.nih.gov/gene/386724 |
| Ensembl ID | ENSG00000163810 |
| UniProt ID | Q6UXZ4 |
| OMIM ID | 615689 |
| HGNC ID | 24073 |
| Aliases | AMIGO-3, ALI3, KIAA1851 |
Description
AMIGO3 (Adhesion Molecule with Ig-like Domain 3) is a protein-coding gene that encodes a member of the AMIGO family of cell adhesion molecules. The protein contains leucine-rich repeats and an immunoglobulin-like domain, and is involved in neuronal development, cell adhesion, and axon guidance. AMIGO3 is primarily expressed in the nervous system and may play a role in synaptic plasticity and neural circuit formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Potential involvement in synaptic adhesion and neural connectivity; altered expression may contribute to neurodevelopmental abnormalities. | Limited evidence from expression studies and genetic association analyses. |
| Bipolar Disorder | Possible dysregulation of AMIGO3 expression in brain regions affecting mood regulation. | Preliminary evidence from microarray studies. |
| Major Depressive Disorder | Altered AMIGO3 expression in prefrontal cortex may affect synaptic function. | Expression profiling data. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.5 | Medium |
| Cerebral cortex | 10.2 | Medium |
| Cerebellum | 7.1 | Low |
| Spinal cord | 6.3 | Low |
| Testis | 2.4 | Low |
| Heart | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 12.3 | Neuroblastoma cell line; moderate expression |
| U-87 MG | 9.8 | Glioblastoma cell line; moderate expression |
| HEK293 | 3.2 | Low expression |
| HeLa | 1.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T (p.Arg38Cys) | Missense | 0.01% | Unknown; may affect protein stability |
| c.245G>A (p.Arg82His) | Missense | 0.005% | Unknown; predicted benign |
| c.568A>G (p.Thr190Ala) | Missense | 0.02% | Unknown; predicted tolerated |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in AMIGO3.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion | • homophilic cell adhesion via plasma membrane adhesion molecules |
| • axon guidance | • nervous system development |
| • synaptic signaling | • protein binding |
Pathways
• Cell adhesion molecules (CAMs)
• Axon guidance
Protein Summary
The AMIGO3 protein is a type I transmembrane glycoprotein composed of 509 amino acids. It contains an N-terminal signal peptide, six leucine-rich repeats (LRRs), a cysteine-rich domain, a single immunoglobulin-like (Ig) domain, a transmembrane region, and a cytoplasmic tail. The LRR and Ig domains mediate homophilic and heterophilic interactions with other AMIGO family members, facilitating cell-cell adhesion. AMIGO3 is predominantly expressed in neurons and is implicated in neurite outgrowth, axon fasciculation, and synapse formation. Its cytoplasmic domain may interact with intracellular signaling molecules to modulate neuronal connectivity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AMIGO3 Knockout HEK293 Cell Line | EDJ-KQ12340 | Human | 386724 | Details Get a Quote |
| AMIGO3 Knockout HCT 116 Cell Line | EDJ-KQ41190 | Human | 386724 | Details Get a Quote |
| AMIGO3 Knockout HeLa Cell Line | EDJ-KQ41191 | Human | 386724 | Details Get a Quote |
| AMIGO3 Knockout A-549 Cell Line | EDJ-KQ68427 | Human | 386724 | Details Get a Quote |
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