HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 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.
SEPTIN8
septin 8
Chromosome 5 · 5q31.1
NCBI Gene: 23176Ensembl: ENSG00000164402.14HGNC: HGNC:16511UniProt: A6NFQ9
78PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingGTPase activityregulation of SNARE complex assemblycytoskeleton-dependent cytokinesisasthmaatopic eczemarhabdomyolysisdermatitis
✦AI Summary

SEPTIN8 is a cytoskeletal GTPase that plays multiple roles in cellular organization and disease pathogenesis. Mechanistically, SEPTIN8 stabilizes BACE1 protein levels and promotes its sorting to recycling and endosomal compartments, modulating amyloid-β generation from APP processing 1. The protein localizes to proximal tubule cells in kidney tissue and associates with the microtubule cytoskeleton via acetyl-α tubulin, relocating to actin-rich structures during cellular stress 2. SEPTIN8 is a structural component of myelin, with abundance conserved between humans and mice 3. Disease relevance spans multiple organ systems. In kidney disease, SEPTIN8 variants associate with urinary protein excretion and chr5 kidney disease progression, with upregulation observed in tubulointerstitial injury and hypoxic tubular damage 2. In prostate cancer, SEPTIN8 cooperates with NUDT5 to promote proliferation, invasion, and migration; double knockout significantly suppresses these phenotypes 4. Proteomic studies identify SEPTIN8 as a candidate protein linked to sudden cardiac death risk in chr5 kidney disease patients 5. Conversely, elevated plasma SEPTIN8 shows protective association against COPD development 6. SEPTIN8 has also been implicated in hypothalamic hamartoma pathogenesis through ciliogenesis pathway involvement 7, and its downregulation in spermatogenic cells associates with non-obstructive azoospermia 8.

Sources cited
1
SEPTIN8 involvement in BACE1 sorting and APP C-terminal fragment processing relevant to Alzheimer's disease pathogenesis
PMID: 33203136
2
SEPTIN8 localization in proximal tubule cells, association with cytoskeletal structures, and upregulation in kidney damage and CKD
PMID: 33483609
3
SEPTIN8 as a structural myelin protein with conserved abundance between humans and mice
PMID: 35543322
4
SEPTIN8 cooperation with NUDT5 in promoting prostate cancer cell proliferation, invasion, and migration
PMID: 39168102
5
SEPTIN8 identification as candidate protein associated with sudden cardiac death risk in chronic kidney disease patients
PMID: 41102190
6
Plasma SEPTIN8 shows protective association against overall COPD risk
PMID: 40355193
7
SEPTIN8 involvement in ciliogenesis pathway and hypothalamic hamartoma pathogenesis
PMID: 40496915
8
SEPTIN8 downregulation in spermatogenic cells associated with non-obstructive azoospermia
PMID: 39863862
Disease Associationsⓘ20
asthmaOpen Targets
0.48Moderate
atopic eczemaOpen Targets
0.34Weak
rhabdomyolysisOpen Targets
0.25Weak
dermatitisOpen Targets
0.20Weak
obesityOpen Targets
0.19Weak
respiratory system diseaseOpen Targets
0.16Weak
Abnormal thrombosisOpen Targets
0.15Weak
allergic diseaseOpen Targets
0.15Weak
Varicose veinsOpen Targets
0.10Suggestive
lower respiratory tract diseaseOpen Targets
0.07Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.07Suggestive
hereditary neuropathy with liability to pressure palsiesOpen Targets
0.06Suggestive
posterior cortical atrophyOpen Targets
0.05Suggestive
Chronic Obstructive AsthmaOpen Targets
0.04Suggestive
amyotrophic lateral sclerosis type 11Open Targets
0.04Suggestive
familial amyotrophic lateral sclerosisOpen Targets
0.04Suggestive
Charcot-Marie-Tooth disease type 1AOpen Targets
0.03Suggestive
Charcot-Marie-Tooth disease type 2B2Open Targets
0.03Suggestive
retinopathyOpen Targets
0.03Suggestive
inflammatory bowel diseaseOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SEPTIN4Protein interaction94%SQSTM1Protein interaction90%CDC42EP4Protein interaction90%SEPTIN11Protein interaction87%SEPTIN10Protein interaction84%SEPTIN3Protein interaction78%
Tissue Expression6 tissues
Brain
100%
Heart
40%
Ovary
32%
Bone Marrow
23%
Lung
18%
Liver
18%
Gene Interaction Network
Click a node to explore
SEPTIN8SEPTIN4SQSTM1CDC42EP4SEPTIN11SEPTIN10SEPTIN3
PROTEIN STRUCTURE
Preparing viewer…
PDB6UPR · 2.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.59Moderately Constrained
pLIⓘ
0.29Tolerant
Observed/Expected LoF0.41 [0.29–0.59]
RankingsWhere SEPTIN8 stands among ~20K protein-coding genes
  • #6,107of 20,598
    Most Researched78
  • #4,000of 17,882
    Most Constrained (LOEUF)0.59 · top quartile
Genes detectedSEPTIN8
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Proteomic landscape profiling of primary prostate cancer reveals a 16-protein panel for prognosis prediction.
PMID: 39168102
Cell Rep Med · 2024
1.00
2
Chronic kidney disease is associated with increased risk of sudden cardiac death.
PMID: 41102190
Nat Commun · 2025
0.90
3
Sept8/SEPTIN8 involvement in cellular structure and kidney damage is identified by genetic mapping and a novel human tubule hypoxic model.
PMID: 33483609
Sci Rep · 2021
0.80
4
Conservation and divergence of myelin proteome and oligodendrocyte transcriptome profiles between humans and mice.
PMID: 35543322
Elife · 2022
0.70
5
Presynaptic Vesicle Protein SEPTIN5 Regulates the Degradation of APP C-Terminal Fragments and the Levels of Aβ.
PMID: 33203136
Cells · 2020
0.60