SEZ6L2 Gene - Seizure Related 6 Homolog Like 2
Comprehensive gene information for SEZ6L2, including genomic context, expression, and disease associations.
Gene Information Card
| Symbol | SEZ6L2 |
|---|---|
| Full Name | Seizure Related 6 Homolog Like 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 26470 ncbi.nlm.nih.gov/gene/26470 |
| Ensembl ID | ENSG00000103197 |
| UniProt ID | Q9BYH1 |
| OMIM ID | 609202 |
| HGNC ID | 10753 |
| Aliases | BSRP, KIAA1958, SEZ-6L2 |
Description
SEZ6L2 (Seizure Related 6 Homolog Like 2) is a protein-coding gene located on chromosome 16p11.2. It encodes a transmembrane protein that belongs to the seizure-related 6 (SEZ6) family. The protein is involved in neuronal development and synaptic function. SEZ6L2 is highly expressed in the brain and has been implicated in neurodevelopmental disorders and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | Altered SEZ6L2 expression may disrupt synaptic signaling and neuronal maturation, contributing to autism spectrum disorder and intellectual disability. | Association studies (PMID: 25217958, 27182965) |
| Schizophrenia | SEZ6L2 variants have been linked to schizophrenia risk through genome-wide association studies. | GWAS (PMID: 25056061) |
| Lung cancer | SEZ6L2 is overexpressed in lung adenocarcinoma and may promote tumor cell proliferation. | Expression analysis (COSMIC, PMID: 23542377) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | High |
| Cerebellum | 10.8 | High |
| Testis | 4.2 | Medium |
| Lung | 2.1 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression |
| U-87 MG (glioblastoma) | 11.0 | High expression |
| A549 (lung carcinoma) | 6.7 | Medium expression |
| HEK 293 (embryonic kidney) | 2.4 | 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% | Unknown; predicted damaging (SIFT, PolyPhen) |
| c.1522G>A (p.Gly508Ser) | Missense | <0.01% | Unknown; predicted benign |
| c.1867_1869del (p.Lys623del) | In-frame deletion | <0.01% | Unknown; may affect protein stability |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in SEZ6L2.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in SEZ6L2.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • integral component of plasma membrane (GO:0005887) |
| • chemical synaptic transmission (GO:0007268) | • nervous system development (GO:0007399) |
| • cell junction (GO:0030054) |
Pathways
• Neuronal system (Reactome: R-HSA-112316)
• Transmission across chemical synapses (Reactome: R-HSA-112315)
Protein Summary
SEZ6L2 encodes a single-pass type I transmembrane protein of approximately 100 kDa. The protein contains multiple extracellular domains including CUB and sushi (CCP) domains, which are typical of proteins involved in cell adhesion and synaptic organization. It is predominantly expressed in the brain, where it localizes to the postsynaptic density and may regulate AMPA receptor trafficking. SEZ6L2 is also implicated in tumorigenesis, with overexpression observed in lung cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| 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 |
