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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SEPTIN9
septin 9
Chromosome 17 Β· 17q25.3
NCBI Gene: 10801Ensembl: ENSG00000184640.21HGNC: HGNC:7323UniProt: A0A0S2Z5A5
293PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
perinuclear region of cytoplasmmicrotubuleciliumaxonemeneuralgic amyotrophyhypertensionessential hypertensionalcohol drinking
✦AI Summary

SEPTIN9 is a filament-forming cytoskeletal GTPase that plays a structural role in cell division and cytoskeleton organization 1. The protein functions within septin complexes and is involved in cytokinesis and organization of actin and microtubule cytoskeletons 1. In glioblastoma cells, SEPTIN9 overexpression promotes tumor growth through p53/p21 and MEK/ERK signaling pathways; knockdown suppresses cell proliferation, arrests cells in S phase, and reduces invasive capacity 1. Clinically, SEPTIN9 has significant relevance as a cancer biomarker. Methylated SEPTIN9 (mSEPT9) in plasma demonstrates diagnostic value for colorectal cancer, with sensitivity of 71.8% in CRC patients versus 6.1% in healthy controls 2. The mSEPT9 test outperforms traditional markers like CEA and CA19-9 for CRC detection 3, and combined with other biomarkers provides improved diagnostic efficacy 2. mSEPT9 also shows promise for hepatocellular carcinoma diagnosis in elderly patients, with 87.1% negative conversion rate after surgery 4. Additionally, SEPTIN9 methylation has emerged as a potential screening marker for esophageal cancer 5. However, current evidence does not support using serum SEPTIN9 assay for colorectal cancer screening in general populations 6. SEPTIN9 mutations are associated with hereditary neuralgic amyotrophy 7.

Sources cited
1
SEPTIN9 is a filament-forming cytoskeletal GTPase involved in cell division; elevated expression promotes glioblastoma growth through p53/p21 and MEK/ERK pathways
PMID: 29724999
2
Methylated SEPTIN9 has 71.8% positive rate in CRC patients versus 6.1% in healthy controls; superior diagnostic efficacy compared to CEA, CA19-9, and other biomarkers
PMID: 39068425
3
mSEPT9 demonstrates 76.4% sensitivity and AUC of 0.860 for CRC detection, outperforming FOBT, CEA and CA19-9
PMID: 36330944
4
Plasma SEPTIN9 methylation is a sensitive molecular marker for hepatocellular carcinoma diagnosis with 87.1% negative conversion rate after surgery
PMID: 36947654
5
SEPTIN9 methylation shows promise for esophageal cancer early detection and is FDA-approved for colorectal cancer screening
PMID: 40093671
6
SEPTIN9 serum assay is not recommended for general colorectal cancer screening
PMID: 28555630
7
SEPTIN9 mutations are associated with hereditary neuralgic amyotrophy
PMID: 34602496
Disease Associationsβ“˜21
neuralgic amyotrophyOpen Targets
0.56Moderate
hypertensionOpen Targets
0.55Moderate
essential hypertensionOpen Targets
0.49Moderate
alcohol drinkingOpen Targets
0.44Moderate
Increased blood pressureOpen Targets
0.43Moderate
cardiovascular diseaseOpen Targets
0.42Moderate
genetic disorderOpen Targets
0.41Moderate
cataractOpen Targets
0.41Moderate
type 2 diabetes mellitusOpen Targets
0.37Weak
response to xenobiotic stimulusOpen Targets
0.34Weak
COVID-19Open Targets
0.34Weak
refractive errorOpen Targets
0.31Weak
goutOpen Targets
0.30Weak
lens diseaseOpen Targets
0.28Weak
Abnormality of refractionOpen Targets
0.28Weak
ulcerative colitisOpen Targets
0.27Weak
gestational diabetesOpen Targets
0.27Weak
HypoventilationOpen Targets
0.23Weak
liver diseaseOpen Targets
0.22Weak
hepatocellular carcinomaOpen Targets
0.21Weak
Hereditary neuralgic amyotrophyUniProt
Pathogenic Variants4
NM_001113491.2(SEPTIN9):c.316C>T (p.Arg106Trp)Pathogenic
Amyotrophic neuralgia|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2026β†’ Residue 106
NM_001113491.2(SEPTIN9):c.332C>T (p.Ser111Phe)Pathogenic
Amyotrophic neuralgia
β˜†β˜†β˜†β˜†2009β†’ Residue 111
NG_011683.2:g.92552_130155dupPathogenic
Amyotrophic neuralgia
β˜†β˜†β˜†β˜†2009
NM_001113491.2(SEPTIN9):c.76+12996G>CPathogenic
Amyotrophic neuralgia
β˜†β˜†β˜†β˜†2005
View on ClinVar β†—
Related Genes
SEPTIN4Protein interaction94%HIF1AProtein interaction91%SQSTM1Protein interaction90%SEPTIN7Protein interaction89%CDC42EP4Protein interaction88%SEPTIN3Protein interaction88%
Tissue Expression6 tissues
Lung
100%
Liver
89%
Ovary
77%
Brain
73%
Bone Marrow
66%
Heart
43%
Gene Interaction Network
Click a node to explore
SEPTIN9SEPTIN4HIF1ASQSTM1SEPTIN7CDC42EP4SEPTIN3
PROTEIN STRUCTURE
Preparing viewer…
PDB5CYO Β· 2.04 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.39Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.24 [0.15–0.39]
RankingsWhere SEPTIN9 stands among ~20K protein-coding genes
  • #1,215of 20,598
    Most Researched293 Β· top 10%
  • #3,685of 5,498
    Most Pathogenic Variants4
  • #1,904of 17,882
    Most Constrained (LOEUF)0.39 Β· top quartile
Genes detectedSEPTIN9
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
1.00
2
Combining methylated SEPTIN9 and RNF180 plasma markers for diagnosis and early detection of gastric cancer.
PMID: 37584087
Cancer Commun (Lond) Β· 2023
0.90
3
Analyzing the Role of Septin9 Gene Methylation in the Diagnosis and Treatment of Primary Liver Cancer in the Elderly.
PMID: 36947654
Altern Ther Health Med Β· 2023
0.80
4
Colorectal Cancer Screening: Recommendations for Physicians and Patients from the U.S. Multi-Society Task Force on Colorectal Cancer.
PMID: 28555630
Am J Gastroenterol Β· 2017
0.70
5
Circulating DNA methylation-based diagnostic, prognostic, and predictive biomarkers in colorectal cancer.
PMID: 40253416
Sci Rep Β· 2025
0.68