FAT3 Gene - FAT Atypical Cadherin 3
Comprehensive genomic and functional analysis of FAT3, a protocadherin implicated in neurodevelopment and cancer
Gene Information Card
| Symbol | FAT3 |
|---|---|
| Full Name | FAT atypical cadherin 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q14.3 |
| NCBI Gene ID | 120114 ncbi.nlm.nih.gov/gene/120114 |
| Ensembl ID | ENSG00000165323 |
| UniProt ID | Q6P4A8 |
| OMIM ID | 612483 |
| HGNC ID | 23107 |
| Aliases | CDHF11, FAT, FAT1, MEGF5, hFat3 |
Description
FAT3 encodes a member of the FAT family of atypical cadherins, which are large transmembrane proteins involved in cell adhesion, cell migration, and signaling. FAT3 is highly expressed in the nervous system and plays a critical role in neuronal development, dendrite arborization, and synapse formation. Mutations and altered expression of FAT3 have been implicated in neurodevelopmental disorders and various cancers, including lung, colorectal, and breast cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | Disruption of FAT3-mediated cell adhesion and signaling during brain development | PMID: 25470048 |
| Lung cancer | Loss of FAT3 expression promotes tumor cell migration and invasion | PMID: 27323850 |
| Colorectal cancer | FAT3 mutations associated with Wnt/β-catenin pathway dysregulation | PMID: 28481359 |
| Breast cancer | FAT3 hypermethylation and reduced expression linked to poor prognosis | PMID: 29533785 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Lung | 3.2 | Low |
| Colon | 2.8 | Low |
| Breast | 1.9 | Low |
| Kidney | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | Neuronal model |
| A549 (lung carcinoma) | 2.1 | Low expression |
| HCT116 (colorectal carcinoma) | 1.8 | Low expression |
| MCF7 (breast carcinoma) | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <1% | Loss of function |
| c.4567G>A (p.Gly1523Arg) | Missense | <0.5% | Unknown |
| c.7890_7891insA (p.Leu2631Thrfs*12) | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay, reducing cell adhesion and promoting tumor invasion.
Gain of Function (GOF)
Not reported in FAT3.
Dominant Negative (DN)
Not reported in FAT3.
View complete mutation data：
Gene Ontology (GO)
| • homophilic cell adhesion via plasma membrane adhesion molecules (GO:0007156) | • plasma membrane (GO:0005886) |
| • calcium ion binding (GO:0005509) | • integral component of membrane (GO:0016021) |
| • axon guidance (GO:0007411) | • synapse (GO:0045202) |
Pathways
• Cell adhesion molecules (CAMs)
• Wnt signaling pathway
• Planar cell polarity pathway
Protein Summary
FAT3 is a large (~500 kDa) single-pass transmembrane protein containing 34 cadherin repeats, 2 EGF-like domains, 1 laminin G domain, and a cytoplasmic domain with potential signaling motifs. It mediates calcium-dependent homophilic cell adhesion and interacts with the cytoskeleton. FAT3 is essential for proper neuronal morphogenesis and acts as a tumor suppressor in epithelial cancers by modulating cell migration and Wnt/β-catenin signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAT3 Knockout HEK293 Cell Line | EDJ-KQ7658 | Human | 120114 | Details Get a Quote |
| FAT3 Knockout A-549 Cell Line | EDJ-KQ33016 | Human | 120114 | Details Get a Quote |
| FAT3 Knockout HeLa Cell Line | EDJ-KQ58059 | Human | 120114 | Details Get a Quote |
| FAT3 Knockout HCT 116 Cell Line | EDJ-KQ74962 | Human | 120114 | Details Get a Quote |
