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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SEZ6L
seizure related 6 homolog like
Chromosome 22 · 22q12.1
NCBI Gene: 23544Ensembl: ENSG00000100095.19HGNC: HGNC:10763UniProt: B7ZLJ8
27PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
endoplasmic reticulumsynapse maturationneuronal cell bodyadult locomotory behaviorsmoking initiationresponse to antihypertensive druganorexia nervosaalopecia areata
✦AI Summary

SEZ6L (seizure related 6 homolog like) is a neuronal transmembrane protein of 1024 amino acids containing multiple domains involved in protein-protein interaction and signal transduction 1. The protein functions as a physiological substrate of the Alzheimer's disease protease BACE1, which cleaves SEZ6L near the membrane to produce a soluble ectodomain (sSEZ6L) 2. BACE1 cleavage regulates SEZ6L surface expression on neurons, and levels of sSEZ6L in cerebrospinal fluid serve as markers for BACE1 activity 2. Functionally, SEZ6L plays critical roles in motor coordination and anxiety regulation, as constitutive knockout mice display altered gait, decreased motor coordination, and increased anxiety-like behavior, though spatial learning remains normal 3. In disease contexts, SEZ6L shows clinical significance across multiple neurological conditions. A Met430Ile polymorphism (rs663048) increases lung cancer risk with a combined odds ratio of 3.32 for homozygous variant carriers 4 and improves lung cancer risk prediction models 5. Additionally, SEZ6L variants associate with multiple sclerosis severity outcomes 6, and the gene is upregulated in post-stroke human brain tissue, particularly in astrocytes and oligodendrocyte lineage cells, suggesting roles in neuroprotection and repair 7.

Sources cited
1
SEZ6L is a transmembrane protein of 1024 amino acids with multiple domains for protein-protein interaction and signal transduction
PMID: 11175339
2
SEZ6L is a physiological BACE1 substrate that is cleaved to produce soluble ectodomain sSEZ6L, and BACE1 controls SEZ6L surface expression
PMID: 27716410
3
SEZ6L knockout mice display motor coordination defects, gait changes, and increased anxiety-like behavior
PMID: 34958451
4
SEZ6L Met430Ile polymorphism increases lung cancer risk with odds ratio of 3.32 for homozygous variants
PMID: 17804757
5
SEZ6L polymorphism improves lung cancer risk prediction models
PMID: 20424129
6
SEZ6L variants associate with multiple sclerosis severity outcomes
PMID: 36448302
7
SEZ6L is upregulated in post-stroke human brain tissue in astrocytes and oligodendrocyte lineage cells
PMID: 41238151
Disease Associationsⓘ20
smoking initiationOpen Targets
0.38Weak
response to antihypertensive drugOpen Targets
0.31Weak
anorexia nervosaOpen Targets
0.30Weak
alopecia areataOpen Targets
0.28Weak
adolescent idiopathic scoliosisOpen Targets
0.27Weak
device complicationOpen Targets
0.25Weak
mathematical abilityOpen Targets
0.21Weak
benign neoplasm of eyeOpen Targets
0.17Weak
gastrointestinal diseaseOpen Targets
0.17Weak
plasma protein metabolism diseaseOpen Targets
0.17Weak
diabetic ketoacidosisOpen Targets
0.15Weak
alcohol drinkingOpen Targets
0.15Weak
sprainOpen Targets
0.15Weak
Familial prostate cancerOpen Targets
0.14Weak
prostate cancerOpen Targets
0.14Weak
lung carcinomaOpen Targets
0.03Suggestive
AnxietyOpen Targets
0.02Suggestive
immune system diseaseOpen Targets
0.02Suggestive
pituitary cancerOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
Pathogenic Variants1
NM_021115.5(SEZ6L):c.2574G>A (p.Trp858Ter)Likely pathogenic
Autism
★☆☆☆2026→ Residue 858
View on ClinVar ↗
Related Genes
SEZ6L2Shared pathway100%MYO18BProtein interaction93%GRK3Protein interaction82%SEZ6Shared pathway75%DMRT3Shared pathway25%SYBUShared pathway25%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
2%
Heart
2%
Ovary
0%
Liver
0%
Lung
0%
Gene Interaction Network
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SEZ6LSEZ6L2MYO18BGRK3SEZ6DMRT3SYBU
PROTEIN STRUCTURE
Preparing viewer…
PDB2YRA · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.45Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.34 [0.25–0.45]
RankingsWhere SEZ6L stands among ~20K protein-coding genes
  • #12,665of 20,598
    Most Researched27
  • #5,291of 5,498
    Most Pathogenic Variants1
  • #2,515of 17,882
    Most Constrained (LOEUF)0.45 · top quartile
Genes detectedSEZ6L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Seizure 6-like (SEZ6L) gene and risk for lung cancer.
PMID: 17804757
Cancer Res · 2007
1.00
2
Incorporation of a genetic factor into an epidemiologic model for prediction of individual risk of lung cancer: the Liverpool Lung Project.
PMID: 20424129
Cancer Prev Res (Phila) · 2010
0.90
3
The β-Secretase Substrate Seizure 6-Like Protein (SEZ6L) Controls Motor Functions in Mice.
PMID: 34958451
Mol Neurobiol · 2022
0.80
4
Not all roads lead to the immune system: the genetic basis of multiple sclerosis severity.
PMID: 36448302
Brain · 2023
0.70
5
Identification of a 428-kb homozygously deleted region disrupting the SEZ6L gene at 22q12.1 in a lung cancer cell line.
PMID: 11175339
Oncogene · 2000
0.60