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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SEZ6
seizure related 6 homolog
Chromosome 17 · 17q11.2
NCBI Gene: 124925Ensembl: ENSG00000063015.21HGNC: HGNC:15955UniProt: Q53EL9
18PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingneuronal cell bodyregulation of dendrite developmentsynapse maturationsmoking initiationventricular fibrillationgoutRare pervasive developmental disorder
✦AI Summary

SEZ6 (seizure-related homolog 6) is a cell surface type 1 transmembrane protein primarily expressed in the central nervous system 1. In normal neuronal development, SEZ6 plays a critical role in cell-cell recognition and neuronal membrane signaling, regulating the balance between dendrite elongation and branching to establish appropriate excitatory synaptic connectivity 1. The protein localizes to dendritic spines, dendritic shafts, and endoplasmic reticulum compartments, contributing to synapse maturation and dendritic arbor elaboration. Beyond its developmental functions, SEZ6 has emerged as a disease-relevant target in neuroendocrine malignancies. Aberrant SEZ6 expression associates with neurodevelopmental and psychiatric disorders including epilepsy, schizophrenia, and Alzheimer disease 1. SEZ6 is substantially overexpressed in small cell lung cancer (SCLC) and other high-grade neuroendocrine neoplasms, with expression regulated by ASCL1, a lineage-defining transcription factor 1. Expression patterns vary across neuroendocrine tumor types, with strong positivity in Merkel cell carcinomas and medullary thyroid carcinomas, but lower prevalence in pancreatic and gastric neuroendocrine tumors 2. Clinically, SEZ6-targeted antibody-drug conjugates (ADCs) demonstrate therapeutic promise. ABBV-011, a calicheamicin-based SEZ6-ADC, achieved a 25% objective response rate and 3.5-month median progression-free survival in heavily pretreated SCLC patients, with manageable safety profiles 3. SEZ6 represents a novel precision medicine target for neuroendocrine malignancies.

Sources cited
1
SEZ6 is a cell surface type 1 transmembrane protein involved in neuronal development, CNS-specific expression, and its aberrant expression associates with epilepsy, schizophrenia, and Alzheimer disease; overexpressed in SCLC and regulated by ASCL1
PMID: 40911432
2
SEZ6 expression patterns across neuroendocrine neoplasms, including strong expression in Merkel cell carcinomas and medullary thyroid carcinomas, with variable expression in other neuroendocrine tumor types
PMID: 40699376
3
ABBV-011 (SEZ6-targeted ADC) demonstrated 25% objective response rate and 3.5-month median progression-free survival in relapsed/refractory SCLC with acceptable tolerability at 1.0 mg/kg dosing
PMID: 39287821
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
smoking initiationOpen Targets
0.35Weak
ventricular fibrillationOpen Targets
0.28Weak
goutOpen Targets
0.27Weak
Rare pervasive developmental disorderOpen Targets
0.27Weak
small cell lung carcinomaOpen Targets
0.09Suggestive
Alzheimer diseaseOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
medullary thyroid gland carcinomaOpen Targets
0.05Suggestive
systemic lupus erythematosusOpen Targets
0.04Suggestive
breast carcinomaOpen Targets
0.04Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
ichthyosis prematurity syndromeOpen Targets
0.02Suggestive
neuroendocrine neoplasmOpen Targets
0.02Suggestive
astrocytomaOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
nail-patella syndromeOpen Targets
0.02Suggestive
ependymomaOpen Targets
0.02Suggestive
SeizureOpen Targets
0.02Suggestive
nasopharyngeal carcinomaOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
Pathogenic Variants1
NM_178860.5(SEZ6):c.678_686del (p.Thr227_Thr229del)Likely pathogenic
Childhood-onset schizophrenia
★☆☆☆2014→ Residue 227
View on ClinVar ↗
Related Genes
SEZ6LShared pathway75%SEZ6L2Shared pathway75%CSMD3Shared pathway25%DMRT3Shared pathway20%IGSF21Shared pathway20%RTN4IP1Shared pathway20%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
10%
Liver
1%
Ovary
1%
Lung
0%
Heart
0%
Gene Interaction Network
Click a node to explore
SEZ6SEZ6LSEZ6L2CSMD3DMRT3IGSF21RTN4IP1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q53EL9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.71LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.56 [0.45–0.71]
RankingsWhere SEZ6 stands among ~20K protein-coding genes
  • #14,807of 20,598
    Most Researched18
  • #5,405of 5,498
    Most Pathogenic Variants1
  • #5,424of 17,882
    Most Constrained (LOEUF)0.71
Genes detectedSEZ6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Seizure-Related Homolog Protein 6 (SEZ6): Biology and Therapeutic Target in Neuroendocrine Carcinomas.
PMID: 40911432
Clin Cancer Res · 2025
1.00
2
ABBV-011, A Novel, Calicheamicin-Based Antibody-Drug Conjugate, Targets SEZ6 to Eradicate Small Cell Lung Cancer Tumors.
PMID: 35642431
Mol Cancer Ther · 2022
0.90
3
Expression of DLL3 and SEZ6 in the Spectrum of Neuroendocrine Neoplasia.
PMID: 40699376
Endocr Pathol · 2025
0.80
4
Small cell lung cancer (SCLC): At the door of targeted therapies.
PMID: 40884462
Biomol Biomed · 2025
0.70
5
A Phase I First-in-Human Study of ABBV-011, a Seizure-Related Homolog Protein 6-Targeting Antibody-Drug Conjugate, in Patients with Small Cell Lung Cancer.
PMID: 39287821
Clin Cancer Res · 2024
0.60