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Gene Review

SEPT6  -  septin 6

Homo sapiens

Synonyms: KIAA0128, MGC16619, MGC20339, SEP2, SEPT2, ...
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Disease relevance of SEPT6

  • In this work, we report a unique ins(X;11)(q24;q23) in an infant with acute myeloid leukemia (AML-M2) that fuses the human KIAA0128 gene at Xq24 with MLL [1].
  • Both SEP1 and SEP2 were predictive of later cerebral palsy (CP) (p = 0.03 and p = 0.003, respectively) [2].
  • SEP1 and SEP2 were less accurate than head ultrasound findings of periventricular leukomalacia in the prediction of later CP (73, 69 and 93%, respectively) [2].

High impact information on SEPT6

  • Using fluorescence resonance energy transfer, size exclusion chromatography, and multi-angle light scattering techniques, we have characterized the conformation of a complex of filamentous human septins, Sept2, Sept6, and Sept7 [3].
  • Mass spectroscopic analysis of proteins coprecipitating with Sept6 identified the microtubule-associated protein MAP4 as a septin binding partner [4].
  • In the remaining case, a MLL-SEPT6/Xq24 fusion suggested a complex rearrangement [5].
  • SEP3 and SEP2 measures demonstrated the significant superiority of vardenafil over placebo from week 2 onwards (p<0.001) [6].
  • Patients treated with vardenafil 8hours before sexual activity achieved clinically meaningful (>/=18%) and statistically significantly greater least-squares mean per-patient SEP3 and SEP2 success rates over weeks 2-10, compared with patients receiving placebo (SEP3 69% vs 34%; SEP2 81% vs 51%; both p<0.001) [6].

Biological context of SEPT6


Anatomical context of SEPT6

  • Septin 6, previously shown to be associated with synaptic vesicles, was present in all of 7 controls, but only in 1 out of 6 DS brains [8].
  • We recorded unilateral, median nerve SEPs in 88 preterm infants twice in the first 3 weeks of life (SEP1 and SEP2) [2].

Associations of SEPT6 with chemical compounds

  • The time between sildenafil ingestion and intercourse attempt (0-0.5 to >10 hours) had no significant effect on responses to SEP2, but decreased responses to SEP3 from a maximum of 92.8% at 1.5-2 hours to 81.6% at more than 10 hours (P = 0.003) [9].

Other interactions of SEPT6

  • The 3018-bp full-length cDNA potentially encodes a 517-residue peptide, sharing closest homology to human septin 8 and septin 6 [10].

Analytical, diagnostic and therapeutic context of SEPT6


  1. An ins(X;11)(q24;q23) fuses the MLL and the Septin 6/KIAA0128 gene in an infant with AML-M2. Borkhardt, A., Teigler-Schlegel, A., Fuchs, U., Keller, C., König, M., Harbott, J., Haas, O.A. Genes Chromosomes Cancer (2001) [Pubmed]
  2. Early somatosensory evoked potentials in preterm infants: their prognostic utility. Ekert, P.G., Taylor, M.J., Keenan, N.K., Boulton, J.E., Whyte, H.E. Biol. Neonate (1997) [Pubmed]
  3. Structural analysis of septin 2, 6, and 7 complexes. Low, C., Macara, I.G. J. Biol. Chem. (2006) [Pubmed]
  4. Mammalian septins regulate microtubule stability through interaction with the microtubule-binding protein MAP4. Kremer, B.E., Haystead, T., Macara, I.G. Mol. Biol. Cell (2005) [Pubmed]
  5. Molecular dissection of t(11;17) in acute myeloid leukemia reveals a variety of gene fusions with heterogeneous fusion transcripts and multiple splice variants. Strehl, S., König, M., Meyer, C., Schneider, B., Harbott, J., Jäger, U., von Bergh, A.R., Loncarevic, I.F., Jarosova, M., Schmidt, H.H., Moore, S.D., Marschalek, R., Haas, O.A. Genes Chromosomes Cancer (2006) [Pubmed]
  6. Extended duration of efficacy of vardenafil when taken 8 hours before intercourse: a randomized, double-blind, placebo-controlled study. Porst, H., Sharlip, I.D., Hatzichristou, D., Rubio-Aurioles, E., Gittelman, M., Stancil, B.N., Smith, P.M., Wilkins, H.J., Pommerville, P. Eur. Urol. (2006) [Pubmed]
  7. MLL-SEPT6 fusion transcript with a novel sequence in an infant with acute myeloid leukemia. Kadkol, S.S., Bruno, A., Oh, S., Schmidt, M.L., Lindgren, V. Cancer Genet. Cytogenet. (2006) [Pubmed]
  8. Expression profiles of proteins in fetal brain with Down syndrome. Cheon, M.S., Fountoulakis, M., Dierssen, M., Ferreres, J.C., Lubec, G. J. Neural Transm. Suppl. (2001) [Pubmed]
  9. Do food and dose timing affect the efficacy of sildenafil? A randomized placebo-controlled study. Zinner, N. The journal of sexual medicine (2007) [Pubmed]
  10. Cloning and functional characterization of human septin 10, a novel member of septin family cloned from dendritic cells. Sui, L., Zhang, W., Liu, Q., Chen, T., Li, N., Wan, T., Yu, M., Cao, X. Biochem. Biophys. Res. Commun. (2003) [Pubmed]
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