SEZ6L
Seizure Related 6 Homolog Like Gene
Gene Information Card
| Symbol | SEZ6L |
|---|---|
| Full Name | Seizure Related 6 Homolog Like |
| Gene Type | Protein coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 23555 ncbi.nlm.nih.gov/gene/23555 |
| Ensembl ID | ENSG00000100290 |
| UniProt ID | Q9BYH1 |
| OMIM ID | 609696 |
| HGNC ID | 10760 |
| Aliases | BSRP2, KIAA0927, SEZ-6L |
Description
SEZ6L (Seizure Related 6 Homolog Like) is a protein-coding gene located on chromosome 22q11.21. It encodes a transmembrane protein containing extracellular CUB and Sushi domains, which is predominantly expressed in the brain. SEZ6L is involved in neuronal development, synaptic function, and has been implicated in epilepsy, schizophrenia, and various cancers, including lung and colorectal cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy | Altered neuronal excitability; SEZ6L variants may disrupt synaptic signaling | ClinVar, OMIM |
| Schizophrenia | Genetic association studies link SEZ6L polymorphisms to increased risk | NCBI Gene, PubMed |
| Lung cancer | Overexpression of SEZ6L in non-small cell lung cancer; potential oncogenic role | COSMIC, PubMed |
| Colorectal cancer | SEZ6L methylation and expression changes observed in tumor tissues | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Cerebral cortex | 15.2 | High |
| Cerebellum | 10.8 | High |
| Testis | 3.4 | Low |
| Lung | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | High expression |
| U-87 MG (glioblastoma) | 6.3 | Moderate expression |
| A549 (lung carcinoma) | 2.1 | Low expression |
| HEK293 (embryonic kidney) | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.01% (gnomAD) | Unknown; predicted damaging |
| c.567delG (p.Glu189fs) | Frameshift | Rare | Loss of function |
| c.890A>G (p.Asn297Ser) | Missense | 0.005% | Possibly benign |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to truncated protein and loss of normal function.
Gain of Function (GOF)
Not well characterized; some missense variants may alter protein interactions.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • cell adhesion |
| • synaptic signaling | • nervous system development |
| • plasma membrane |
Pathways
• Neuronal System
• Cell adhesion molecules (CAMs)
• Synaptic vesicle cycle
Protein Summary
The SEZ6L protein is a type I transmembrane glycoprotein with extracellular CUB and Sushi domains. It is highly expressed in the brain, particularly in neurons, where it localizes to the plasma membrane and is involved in cell adhesion, neurite outgrowth, and synaptic function. Alternative splicing generates multiple isoforms. The protein may also play a role in cancer progression through modulation of cell signaling pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEZ6L Knockout HEK293 Cell Line | EDJ-KQ8062 | Human | 23544 | Details Get a Quote |
| SEZ6L2 Knockout HEK293 Cell Line | EDJ-KQ8525 | Human | 26470 | Details Get a Quote |
| SEZ6L2 Knockout A-549 Cell Line | EDJ-KQ34659 | Human | 26470 | Details Get a Quote |
| SEZ6L2 Knockout HCT 116 Cell Line | EDJ-KQ34660 | Human | 26470 | Details Get a Quote |
| SEZ6L2 Knockout HeLa Cell Line | EDJ-KQ34661 | Human | 26470 | Details Get a Quote |
| SEZ6L Knockout HeLa Cell Line | EDJ-KQ55764 | Human | 23544 | Details Get a Quote |
| SEZ6L Knockout A-549 Cell Line | EDJ-KQ64261 | Human | 23544 | Details Get a Quote |
| SEZ6L Knockout HCT 116 Cell Line | EDJ-KQ72706 | Human | 23544 | Details Get a Quote |
