HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
8 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SEPTIN3
septin 3
Chromosome 22 · 22q13.2
NCBI Gene: 55964Ensembl: ENSG00000100167.21HGNC: HGNC:10750UniProt: A0A2R8Y4H2
44PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
identical protein bindingprotein bindingGTPase activitycytoskeleton-dependent cytokinesisintelligenceliver diseaseappendicitistriple-negative breast cancer
✦AI Summary

SEPTIN3 is a filament-forming cytoskeletal GTPase that plays roles in cell division and cytoskeletal organization 1. As a septin family member, it forms organized supramolecular structures at synapses that are critical for synaptic transmission and function 2. In disease pathology, SEPTIN3 has emerged as a novel autoantibody target in paraneoplastic cerebellar ataxia, with autoantibodies identifying patients with progressive cerebellar syndromes associated with melanoma and small cell lung cancer 1. Additionally, anti-SEPTIN3 antibodies have been identified in autoimmune cerebellar ataxia patients 3. In Alzheimer's disease, SEPTIN3 levels are altered in affected brain regions; synaptic SEPTIN3 accumulation correlates strongly with complement deposition (C1q) and synapse loss in disease models 2. Notably, septin-3 levels positively correlate with preserved cognitive function 4, and altered septin-3 expression was identified as a novel proteomic signature in AD brains 5. Clinically, SEPTIN3 has emerged as a candidate biomarker: it was identified as a Tier 2 protein associated with adenocarcinoma development 6, a discriminant protein in maternal smoking during pregnancy 7, and a component of a five-gene prognostic signature for triple-negative breast cancer risk stratification 8.

Sources cited
1
SEPTIN3 is a novel autoantibody target in paraneoplastic cerebellar ataxia; septins are cytoskeletal filament-forming proteins with roles in cell division and cellular functions
PMID: 36997937
2
Anti-septin-3 antibodies have been identified in patients with autoimmune cerebellar ataxia
PMID: 39088289
3
Synaptic SEPTIN3 accumulation correlates with C1q deposition and synapse loss in Alzheimer's disease models; septins form synaptic supramolecular structures affecting transmission
PMID: 32034429
4
SEPTIN3 levels positively correlate with cognitive function in Alzheimer's disease and mild cognitive impairment
PMID: 28158844
5
Neuronal-specific septin-3 showed altered levels in Alzheimer's disease brain and represents a novel protein candidate related to AD
PMID: 24606058
6
SEPTIN3 is a Tier 2 protein biomarker associated with adenocarcinoma development
PMID: 41340014
7
SEPTIN3 is a discriminant protein in maternal smoking during pregnancy affecting placental proteome
PMID: 37209868
8
SEPTIN3 is one of five programmed cell death-related genes in a prognostic signature for triple-negative breast cancer
PMID: 40313394
Disease Associationsⓘ20
intelligenceOpen Targets
0.31Weak
liver diseaseOpen Targets
0.27Weak
appendicitisOpen Targets
0.14Weak
triple-negative breast cancerOpen Targets
0.09Suggestive
schizophreniaOpen Targets
0.09Suggestive
refractive errorOpen Targets
0.06Suggestive
Alzheimer diseaseOpen Targets
0.05Suggestive
response to selective serotonin reuptake inhibitorOpen Targets
0.04Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.04Suggestive
carpal tunnel syndromeOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.03Suggestive
pseudohypoparathyroidism type 2Open Targets
0.03Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
cerebellar ataxiaOpen Targets
0.02Suggestive
uterine leiomyosarcomaOpen Targets
0.02Suggestive
Parkinson diseaseOpen Targets
0.02Suggestive
ataxia telangiectasiaOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
melanomaOpen Targets
0.02Suggestive
squamous cell carcinomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SEPTIN4Protein interaction95%SQSTM1Protein interaction90%CDC42EP4Protein interaction89%SEPTIN9Protein interaction88%SEPTIN6Protein interaction88%SEPTIN11Protein interaction85%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
1%
Lung
0%
Ovary
0%
Liver
0%
Heart
0%
Gene Interaction Network
Click a node to explore
SEPTIN3SEPTIN4SQSTM1CDC42EP4SEPTIN9SEPTIN6SEPTIN11
PROTEIN STRUCTURE
Preparing viewer…
PDB4Z54 · 1.83 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.59Moderately Constrained
pLIⓘ
0.71Intermediate
Observed/Expected LoF0.37 [0.24–0.59]
RankingsWhere SEPTIN3 stands among ~20K protein-coding genes
  • #9,648of 20,598
    Most Researched44
  • #3,981of 17,882
    Most Constrained (LOEUF)0.59 · top quartile
Genes detectedSEPTIN3
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Autoimmune Movement Disorders.
PMID: 39088289
Continuum (Minneap Minn) · 2024
1.00
2
Revealing Causal Protein Biomarkers and Potential Therapeutic Targets for Histologic-Specific Lung Cancer.
PMID: 41340014
J Cell Mol Med · 2025
0.88
3
Smoking during pregnancy is associated with the placental proteome.
PMID: 37209868
Reprod Toxicol · 2023
0.75
4
Construction of a novel five programmed cell death-related gene signature as a promising prognostic model for triple negative breast cancer.
PMID: 40313394
PeerJ · 2025
0.63
5
Septin-3 autoimmunity in patients with paraneoplastic cerebellar ataxia.
PMID: 36997937
J Neuroinflammation · 2023
0.50