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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SEPTIN6
septin 6
Chromosome X · Xq24
NCBI Gene: 23157Ensembl: ENSG00000125354.24HGNC: HGNC:15848UniProt: B1AMS2
112PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcytoskeleton organizationseptin complexsperm annulusatrial fibrillationVaricose veinshepatocellular carcinomanon-small cell lung carcinoma
✦AI Summary

SEPTIN6 is a filament-forming cytoskeletal GTPase that functions as a key component of the septin complex, a fourth cytoskeletal system distinct from actin, microtubule, and intermediate filaments. Mechanistically, SEPTIN6 forms dynamic multivalent interactions through its C-terminal tail that undergo liquid-liquid phase separation (LLPS), enabling assembly of higher-order septin structures essential for cytoskeletal organization 1. The protein is critical for establishing epithelial cell polarity and adherens junction integrity 1, and participates in cytokinesis and actin cytoskeleton organization. SEPTIN6 also functions in endosomal protein sorting during multivesicular body (MVB) biogenesis by regulating AP-3 and ESCRT machinery interactions 2, and contributes to podosome maturation and endothelial cell invasion during angiogenesis 3. Clinically, SEPTIN6 is implicated in pediatric acute myeloid leukemia (AML) through recurrent MLL-SEPTIN6 fusion translocations, particularly in infant cases with complex chrX abnormalities involving 11q23 and Xq24 456. Additionally, SEPTIN6 was identified as an upregulated feature gene associated with atrial fibrillation in patients with valvular heart disease 7, suggesting broader cardiovascular relevance.

Sources cited
1
SEPTIN6 undergoes liquid-liquid phase separation through multivalent C-terminal interactions and is essential for epithelial cell polarity and adherens junction integrity
PMID: 39973116
2
SEPT6 complexes regulate AP-3 and ESCRT-dependent protein sorting during multivesicular body biogenesis
PMID: 25380047
3
Septin6 is required for podosome maturation and endothelial cell invasion associated with angiogenesis
PMID: 31865373
4
SEPTIN6 is fused to MLL in infant acute myeloid leukemia with t(X;11) translocation involving 11q23 and Xq24
PMID: 11809673
5
MLL-SEPTIN6 fusion recurs in novel translocations in infant AML, with MLL genomic breakpoint representing a DNA topoisomerase II cleavage site
PMID: 12096348
6
MLL/SEPTIN6 rearrangements occur rarely in acute leukemia with cryptic or complex chromosomal patterns
PMID: 12874781
7
SEPTIN6 is an upregulated feature gene associated with atrial fibrillation in patients with valvular heart disease
PMID: 33509101
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.30Weak
Varicose veinsOpen Targets
0.30Weak
hepatocellular carcinomaOpen Targets
0.21Weak
non-small cell lung carcinomaOpen Targets
0.19Weak
acute myeloid leukemiaOpen Targets
0.19Weak
gliomaOpen Targets
0.19Weak
lung adenocarcinomaOpen Targets
0.19Weak
colon adenocarcinomaOpen Targets
0.19Weak
pancreatic ductal adenocarcinomaOpen Targets
0.19Weak
breast carcinomaOpen Targets
0.19Weak
chronic lymphocytic leukemiaOpen Targets
0.19Weak
gastric adenocarcinomaOpen Targets
0.19Weak
pancreatic carcinomaOpen Targets
0.19Weak
head and neck squamous cell carcinomaOpen Targets
0.19Weak
melanomaOpen Targets
0.19Weak
lung carcinomaOpen Targets
0.18Weak
rectal adenocarcinomaOpen Targets
0.18Weak
Richter syndromeOpen Targets
0.18Weak
skin basal cell carcinomaOpen Targets
0.18Weak
urinary bladder carcinomaOpen Targets
0.18Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SEPTIN4Protein interaction99%SQSTM1Protein interaction90%CDC42EP4Protein interaction90%CDC42EP5Protein interaction89%SEPTIN3Protein interaction88%HNRNPA1Protein interaction88%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
29%
Brain
26%
Lung
25%
Heart
24%
Ovary
14%
Gene Interaction Network
Click a node to explore
SEPTIN6SEPTIN4SQSTM1CDC42EP4CDC42EP5SEPTIN3HNRNPA1
PROTEIN STRUCTURE
Preparing viewer…
PDB6WBP · 1.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.43Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.24 [0.14–0.43]
RankingsWhere SEPTIN6 stands among ~20K protein-coding genes
  • #4,245of 20,598
    Most Researched112 · top quartile
  • #2,307of 17,882
    Most Constrained (LOEUF)0.43 · top quartile
Genes detectedSEPTIN6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
SEPTIN6, a human homologue to mouse Septin6, is fused to MLL in infant acute myeloid leukemia with complex chromosomal abnormalities involving 11q23 and Xq24.
PMID: 11809673
Cancer Res · 2002
1.00
2
Septin2 mediates podosome maturation and endothelial cell invasion associated with angiogenesis.
PMID: 31865373
J Cell Biol · 2020
0.90
3
Mammalian septins nomenclature.
PMID: 12475938
Mol Biol Cell · 2002
0.80
4
MLL/SEPTIN6 chimeric transcript from inv ins(X;11)(q24;q23q13) in acute monocytic leukemia: report of a case and review of the literature.
PMID: 12874781
Genes Chromosomes Cancer · 2003
0.70
5
MLL-SEPTIN6 fusion recurs in novel translocation of chromosomes 3, X, and 11 in infant acute myelomonocytic leukaemia and in t(X;11) in infant acute myeloid leukaemia, and MLL genomic breakpoint in complex MLL-SEPTIN6 rearrangement is a DNA topoisomerase II cleavage site.
PMID: 12096348
Oncogene · 2002
0.60