SEZ6 Gene: Seizure-Related 6 Homolog – Function, Expression, and Clinical Relevance
A comprehensive biomedical overview of the SEZ6 gene, including genomic context, protein function, expression patterns, and disease associations.
Gene Information Card
| Symbol | SEZ6 |
|---|---|
| Full Name | Seizure related 6 homolog (mouse) |
| Gene Type | protein coding |
| Chromosomal Location | 17q11.2 |
| NCBI Gene ID | 1244 ncbi.nlm.nih.gov/gene/1244 |
| Ensembl ID | ENSG00000133019 |
| UniProt ID | Q53H76 |
| OMIM ID | 609276 |
| HGNC ID | 10750 |
| Aliases | BSRPC, FLJ44124, MGC138228, MGC138230 |
Description
SEZ6 (Seizure related 6 homolog) is a protein-coding gene located on chromosome 17q11.2. It encodes a type I transmembrane protein that belongs to the seizure-related gene family. SEZ6 is predominantly expressed in the brain, particularly in neurons, and is involved in neuronal development, synaptic function, and dendritic arborization. It has been implicated in various neurological conditions and cancer, with emerging evidence of its role in tumor progression and immune regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy | SEZ6 is named for its seizure-related expression; however, direct pathogenic mutations in human epilepsy are not well established. Mouse models suggest involvement in seizure susceptibility. | Mouse model studies (NCBI Gene, OMIM) |
| Cancer (various) | SEZ6 is overexpressed in some cancers, potentially promoting tumor growth and metastasis via modulation of cell signaling pathways. | COSMIC, PubMed (via NCBI) |
| Neurodevelopmental disorders | SEZ6 is involved in neuronal maturation and synaptic plasticity; dysregulation may contribute to neurodevelopmental phenotypes. | UniProt, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High | High |
| Testis | Low | Low |
| Lung | Low | Low |
| Kidney | Low | Low |
| Liver | Not detected | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | High | Neuronal cell line |
| U-87 MG (glioblastoma) | Medium | Brain tumor cell line |
| HeLa (cervical carcinoma) | Low | Non-neuronal |
| A549 (lung carcinoma) | Low | Non-neuronal |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Ter) | Nonsense | Rare | Predicted loss of function; not well characterized |
| c.567G>A (p.Trp189Ter) | Nonsense | Rare | Predicted loss of function; not well characterized |
| c.890A>G (p.Asn297Ser) | Missense | Rare | Unknown effect; not clinically validated |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to result in loss of function due to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
No evidence of gain-of-function mutations in SEZ6.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • integral component of plasma membrane (GO:0005887) |
| • protein binding (GO:0005515) | • nervous system development (GO:0007399) |
| • neuron projection development (GO:0031175) | • synapse (GO:0045202) |
| • excitatory synapse (GO:0060076) |
Pathways
• Neuronal development and synaptic plasticity (based on GO and UniProt)
• Potential involvement in cancer-related signaling (based on COSMIC expression data)
Protein Summary
The SEZ6 protein is a type I transmembrane glycoprotein with a large extracellular domain containing multiple sushi domains and a short cytoplasmic tail. It is highly expressed in the brain, where it localizes to the plasma membrane of neurons, particularly at synapses. SEZ6 is involved in dendritic arborization, synaptic maturation, and neuronal excitability. It may also play a role in cell adhesion and signaling. In cancer, SEZ6 overexpression has been observed in certain tumor types, suggesting a potential oncogenic role, though the underlying mechanisms remain under investigation.
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 |
| SEZ6 Knockout HEK293 Cell Line | EDJ-KQ8658 | Human | 124925 | 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 |
| SEZ6 Knockout HeLa Cell Line | EDJ-KQ58146 | Human | 124925 | Details Get a Quote |
| SEZ6L Knockout A-549 Cell Line | EDJ-KQ64261 | Human | 23544 | Details Get a Quote |
| SEZ6 Knockout A-549 Cell Line | EDJ-KQ66631 | Human | 124925 | Details Get a Quote |
| SEZ6L Knockout HCT 116 Cell Line | EDJ-KQ72706 | Human | 23544 | Details Get a Quote |
| SEZ6 Knockout HCT 116 Cell Line | EDJ-KQ75049 | Human | 124925 | Details Get a Quote |
