1. Interactions

2. Function

3. Clinical significance

4. See also

5. References

6. Further reading

Interactions

SEPT9 has been shown to interact with SEPT2^[4] and SEPT7.^[4]

Function

Along with AHNAK, eIF4E and S100A11, SEPT9 has been shown to be essential for pseudopod protrusion, tumor cell migration and invasion.^[5]

Clinical significance

The v2 region of the SEPT9 promoter has been shown to be methylated in colorectal cancer tissue compared with normal colonic mucosa.^[6] Using highly sensitive real time PCR assays, methylated SEPT9 was detected in the blood of colorectal cancer patients. This alternate methylation pattern in cancer samples is suggestive of an aberrant activation or repression of the gene compared to normal tissue samples.^[7][8]

Testing to detect methylated SEPT9 is not indicated as a first option for colorectal cancer screening.^[9] It is similar in specificity and sensitivity to the stool guaiac test or fecal immune tests, and those tests should be used in preference.^[9] In cases when the physician aggressively has recommended a colonoscopy and the patient has declined that and these other tests, then this test has advantages over patients having no screening at all.^[9]

See also

• Hereditary neuralgic amyotrophy

References

Further reading

• {{cite journal | vauthors = Pellegrino JE, George RA, Biegel J, Farlow MR, Gardner K, Caress J, Brown MJ, Rebbeck TR, Bird TD, Chance PF | title = Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25 | journal = Human Genetics | volume = 101 | issue = 3 | pages = 277–83 | date = Dec 1997 | pmid = 9439655 | doi = 10.1007/s004390050629 }}
• {{cite journal | vauthors = Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O | title = Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro | journal = DNA Research | volume = 6 | issue = 1 | pages = 63–70 | date = Feb 1999 | pmid = 10231032 | doi = 10.1093/dnares/6.1.63 }}
• {{cite journal | vauthors = Medina M, Marinescu RC, Overhauser J, Kosik KS | title = Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome | journal = Genomics | volume = 63 | issue = 2 | pages = 157–64 | date = Jan 2000 | pmid = 10673328 | doi = 10.1006/geno.1999.6090 }}
• {{cite journal | vauthors = Kalikin LM, Sims HL, Petty EM | title = Genomic and expression analyses of alternatively spliced transcripts of the MLL septin-like fusion gene (MSF) that map to a 17q25 region of loss in breast and ovarian tumors | journal = Genomics | volume = 63 | issue = 2 | pages = 165–72 | date = Jan 2000 | pmid = 10673329 | doi = 10.1006/geno.1999.6077 }}
• {{cite journal | vauthors = Russell SE, McIlhatton MA, Burrows JF, Donaghy PG, Chanduloy S, Petty EM, Kalikin LM, Church SW, McIlroy S, Harkin DP, Keilty GW, Cranston AN, Weissenbach J, Hickey I, Johnston PG | title = Isolation and mapping of a human septin gene to a region on chromosome 17q, commonly deleted in sporadic epithelial ovarian tumors | journal = Cancer Research | volume = 60 | issue = 17 | pages = 4729–34 | date = Sep 2000 | pmid = 10987277 | doi = }}
• {{cite journal | vauthors = McIlhatton MA, Burrows JF, Donaghy PG, Chanduloy S, Johnston PG, Russell SE | title = Genomic organization, complex splicing pattern and expression of a human septin gene on chromosome 17q25.3 | journal = Oncogene | volume = 20 | issue = 41 | pages = 5930–9 | date = Sep 2001 | pmid = 11593400 | doi = 10.1038/sj.onc.1204752 }}
• {{cite journal | vauthors = Yamamoto K, Shibata F, Yamaguchi M, Miura O | title = Fusion of MLL and MSF in adult de novo acute myelomonocytic leukemia (M4) with t(11;17)(q23;q25) | journal = International Journal of Hematology | volume = 75 | issue = 5 | pages = 503–7 | date = Jun 2002 | pmid = 12095151 | doi = 10.1007/BF02982114 }}
• {{cite journal | vauthors = Surka MC, Tsang CW, Trimble WS | title = The mammalian septin MSF localizes with microtubules and is required for completion of cytokinesis | journal = Molecular Biology of the Cell | volume = 13 | issue = 10 | pages = 3532–45 | date = Oct 2002 | pmid = 12388755 | pmc = 129964 | doi = 10.1091/mbc.E02-01-0042 }}
• {{cite journal | vauthors = Nagata K, Kawajiri A, Matsui S, Takagishi M, Shiromizu T, Saitoh N, Izawa I, Kiyono T, Itoh TJ, Hotani H, Inagaki M | title = Filament formation of MSF-A, a mammalian septin, in human mammary epithelial cells depends on interactions with microtubules | journal = The Journal of Biological Chemistry | volume = 278 | issue = 20 | pages = 18538–43 | date = May 2003 | pmid = 12626509 | doi = 10.1074/jbc.M205246200 }}
• {{cite journal | vauthors = Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP | title = Large-scale characterization of HeLa cell nuclear phosphoproteins | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 101 | issue = 33 | pages = 12130–5 | date = Aug 2004 | pmid = 15302935 | pmc = 514446 | doi = 10.1073/pnas.0404720101 }}
• {{cite journal | vauthors = Nagata K, Asano T, Nozawa Y, Inagaki M | title = Biochemical and cell biological analyses of a mammalian septin complex, Sept7/9b/11 | journal = The Journal of Biological Chemistry | volume = 279 | issue = 53 | pages = 55895–904 | date = Dec 2004 | pmid = 15485874 | doi = 10.1074/jbc.M406153200 }}
• {{cite journal | vauthors = Scott M, Hyland PL, McGregor G, Hillan KJ, Russell SE, Hall PA | title = Multimodality expression profiling shows SEPT9 to be overexpressed in a wide range of human tumours | journal = Oncogene | volume = 24 | issue = 29 | pages = 4688–700 | date = Jul 2005 | pmid = 15782116 | doi = 10.1038/sj.onc.1208574 }}
• {{cite journal | vauthors = Ito H, Iwamoto I, Morishita R, Nozawa Y, Narumiya S, Asano T, Nagata K | title = Possible role of Rho/Rhotekin signaling in mammalian septin organization | journal = Oncogene | volume = 24 | issue = 47 | pages = 7064–72 | date = Oct 2005 | pmid = 16007136 | doi = 10.1038/sj.onc.1208862 }}
• {{cite journal | vauthors = Scott M, McCluggage WG, Hillan KJ, Hall PA, Russell SE | title = Altered patterns of transcription of the septin gene, SEPT9, in ovarian tumorigenesis | journal = International Journal of Cancer | volume = 118 | issue = 5 | pages = 1325–9 | date = Mar 2006 | pmid = 16161048 | doi = 10.1002/ijc.21486 }}
• {{cite journal | vauthors = Kuhlenbäumer G, Hannibal MC, Nelis E, Schirmacher A, Verpoorten N, Meuleman J, Watts GD, De Vriendt E, Young P, Stögbauer F, Halfter H, Irobi J, Goossens D, Del-Favero J, Betz BG, Hor H, Kurlemann G, Bird TD, Airaksinen E, Mononen T, Serradell AP, Prats JM, Van Broeckhoven C, De Jonghe P, Timmerman V, Ringelstein EB, Chance PF | title = Mutations in SEPT9 cause hereditary neuralgic amyotrophy | journal = Nature Genetics | volume = 37 | issue = 10 | pages = 1044–6 | date = Oct 2005 | pmid = 16186812 | doi = 10.1038/ng1649 }}

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