FLRT3: Fibronectin Leucine Rich Transmembrane Protein 3
Key regulator of cell adhesion, migration, and neuronal development
Gene Information Card
| Symbol | FLRT3 |
|---|---|
| Full Name | Fibronectin Leucine Rich Transmembrane Protein 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 20p12.1 |
| NCBI Gene ID | 23767 ncbi.nlm.nih.gov/gene/23767 |
| Ensembl ID | ENSG00000125848 |
| UniProt ID | Q9NZU0 |
| OMIM ID | 604807 |
| HGNC ID | 3762 |
| Aliases | FLRT3, fibronectin leucine rich transmembrane protein 3, leucine-rich repeat transmembrane protein FLRT3 |
Description
FLRT3 encodes a member of the fibronectin leucine rich transmembrane protein family. The protein contains leucine-rich repeats and a fibronectin type III domain, and functions in cell adhesion, cell migration, and axon guidance. It is involved in the development of the nervous system and in the regulation of fibroblast growth factor (FGF) signaling. FLRT3 is expressed in various tissues, with highest levels in the brain and heart.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cleft palate, isolated | FLRT3 mutations may disrupt cell adhesion and migration during palatal fusion, leading to cleft palate. | ClinVar, OMIM |
| Neural tube defects | FLRT3 variants are associated with altered neurulation due to impaired cell adhesion and FGF signaling. | ClinVar, OMIM |
| Congenital heart disease | FLRT3 expression in cardiac development suggests variants may contribute to structural heart defects. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Lung | 4.1 | Low |
| Liver | 2.0 | Low |
| Kidney | 3.5 | Low |
| Testis | 6.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| HepG2 (hepatocellular carcinoma) | 2.1 | Low expression |
| A549 (lung carcinoma) | 4.8 | Low expression |
| MCF7 (breast carcinoma) | 3.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Altered protein stability and cell adhesion |
| c.1234G>A (p.Gly412Arg) | Missense | <0.01% | Impaired FGF signaling |
| c.789delC (p.Pro264fs) | Frameshift | <0.01% | Loss of function, truncated protein |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated or unstable protein, reducing cell adhesion and signaling.
Gain of Function (GOF)
Not reported in FLRT3.
Dominant Negative (DN)
Missense mutations may interfere with wild-type FLRT3 function in dimerization or receptor binding.
View complete mutation data：
Gene Ontology (GO)
Pathways
• FGF signaling pathway (Reactome: R-HSA-190236)
• Cell adhesion molecules (CAMs) (KEGG: hsa04514)
• Axon guidance (KEGG: hsa04360)
Protein Summary
FLRT3 is a transmembrane protein with leucine-rich repeats and a fibronectin type III domain. It localizes to the plasma membrane and mediates cell-cell adhesion through homophilic and heterophilic interactions. It also modulates FGF signaling by binding FGF receptors. The protein is critical for neuronal development, including axon guidance and synapse formation, and for organogenesis such as palate and heart development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FLRT3 Knockout HEK293 Cell Line | EDJ-KQ8130 | Human | 23767 | Details Get a Quote |
| FLRT3 Knockout A-549 Cell Line | EDJ-KQ34014 | Human | 23767 | Details Get a Quote |
| FLRT3 Knockout HeLa Cell Line | EDJ-KQ55803 | Human | 23767 | Details Get a Quote |
| FLRT3 Knockout HCT 116 Cell Line | EDJ-KQ72748 | Human | 23767 | Details Get a Quote |
