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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SEPTIN7
septin 7
Chromosome 7 · 7p14.2
NCBI Gene: 989Ensembl: ENSG00000122545.22HGNC: HGNC:1717UniProt: A0A023T695
186PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoskeleton organizationprotein bindingstress fibernucleusglaucomaopen-angle glaucomamale reproductive system diseasefracture of pelvis
✦AI Summary

SEPTIN7 is a GTP-binding cytoskeletal protein that functions as a core component of septin filaments, essential for organizing the actin cytoskeleton and maintaining cellular architecture 1. Primary functions include regulating mitosis progression, cytokinesis, and ciliogenesis through formation of heteromeric filament complexes with other septins 2. SEPTIN7 participates in multivesicular body biogenesis by coordinating AP-3 adapter and ESCRT protein sorting machinery on endosomal membranes 3, and is critical for plasma membrane repair by organizing submembranous actomyosin domains containing F-actin, myosin IIA, and annexin A2 4. The protein exhibits anti-apoptotic properties through caspase-independent pathways 5. In skeletal muscle, SEPTIN7 is indispensable for proper myofiber architecture, mitochondrial organization, and force generation, with conditional knockdown causing skeletal deformities and impaired differentiation 1. Metabolically, adipocyte SEPTIN7 restricts store-operated calcium entry and suppresses obesogenic adipogenesis while promoting lipolysis, suggesting a protective role against diet-induced obesity 6. Dysregulation of SEPTIN7 has been implicated in ischemic acute kidney injury pathogenesis 7. Post-translational modification through PKA-mediated phosphorylation at Thr197 disrupts septin filament dynamics and impairs ciliogenesis 2, representing a regulatory mechanism for SEPTIN7 function.

Sources cited
1
SEPTIN7 is essential for skeletal muscle architecture, myotube differentiation, force generation, and mitochondrial organization
PMID: 35929607
2
PKA phosphorylates SEPT7 at Thr197, disrupting septin filaments and primary cilia formation
PMID: 33572403
3
SEPT6 and SEPT7 regulate AP-3 and ESCRT-dependent multivesicular body biogenesis through coordination of protein sorting machinery
PMID: 25380047
4
SEPT7 is essential for plasma membrane repair by organizing submembranous domains containing septin/F-actin/myosin IIA/ANXA2 complexes
PMID: 38969946
5
Human SEPTIN7 prevents Bax and copper-mediated cell death through caspase-independent anti-apoptotic pathways
PMID: 24055994
6
Adipocyte SEPT7 restrains store-operated Ca2+ entry and suppresses adipogenesis while promoting lipolysis to prevent obesity
PMID: 40015624
7
SEPTIN7 is upregulated in proximal tubule cells in ischemic acute kidney injury as a pro-apoptotic gene
PMID: 37083129
Disease Associationsⓘ20
glaucomaOpen Targets
0.35Weak
open-angle glaucomaOpen Targets
0.32Weak
male reproductive system diseaseOpen Targets
0.31Weak
fracture of pelvisOpen Targets
0.30Weak
bone fractureOpen Targets
0.30Weak
response to stimulusOpen Targets
0.08Suggestive
thrombophiliaOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.07Suggestive
cancerOpen Targets
0.07Suggestive
gliomaOpen Targets
0.07Suggestive
adverse effectOpen Targets
0.07Suggestive
obesityOpen Targets
0.05Suggestive
Miyoshi myopathyOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
Alzheimer diseaseOpen Targets
0.04Suggestive
schizophreniaOpen Targets
0.04Suggestive
lung cancerOpen Targets
0.04Suggestive
AutoimmunityOpen Targets
0.03Suggestive
epilepsyOpen Targets
0.03Suggestive
chronic fatigue syndromeOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MAPKAPK5Protein interaction100%SEPTIN4Protein interaction100%SEPTIN12Protein interaction99%SEPTIN5Protein interaction99%CDC42EP5Protein interaction98%CDC42EP3Protein interaction97%
Tissue Expression6 tissues
Brain
100%
Heart
65%
Bone Marrow
56%
Ovary
36%
Lung
27%
Liver
15%
Gene Interaction Network
Click a node to explore
SEPTIN7MAPKAPK5SEPTIN4SEPTIN12SEPTIN5CDC42EP5CDC42EP3
PROTEIN STRUCTURE
Preparing viewer…
PDB6N0B · 1.74 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.31Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.07 [0.02–0.31]
RankingsWhere SEPTIN7 stands among ~20K protein-coding genes
  • #2,315of 20,598
    Most Researched186 · top quartile
  • #1,240of 17,882
    Most Constrained (LOEUF)0.31 · top 10%
Genes detectedSEPTIN7
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Single-cell RNA sequencing reveals the transcriptomic landscape of kidneys in patients with ischemic acute kidney injury.
PMID: 37083129
Chin Med J (Engl) · 2023
1.00
2
Adipocyte Septin-7 attenuates obesogenic adipogenesis and promotes lipolysis to prevent obesity.
PMID: 40015624
Mol Metab · 2025
0.90
3
The human septin7 and the yeast CDC10 septin prevent Bax and copper mediated cell death in yeast.
PMID: 24055994
Biochim Biophys Acta · 2013
0.80
4
Septin7 is indispensable for proper skeletal muscle architecture and function.
PMID: 35929607
Elife · 2022
0.70
5
Synovial Fluid Proteomic Signatures in Different Subtypes of Juvenile Idiopathic Arthritis.
PMID: 40855397
Scand J Immunol · 2025
0.64