Property Summary

NCBI Gene PubMed Count 84
PubMed Score 143.82
PubTator Score 135.50

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Expression

  Differential Expression (9)

Disease log2 FC p
malignant mesothelioma -1.100 3.0e-06
psoriasis 2.500 1.8e-05
osteosarcoma 1.009 1.6e-02
glioblastoma 1.100 5.7e-03
lung cancer 1.100 3.7e-03
group 4 medulloblastoma 1.400 1.5e-04
COPD -1.100 2.2e-03
lung carcinoma -1.100 7.4e-18
ovarian cancer 1.200 7.8e-07

Gene RIF (60)

PMID Text
26633373 SEPT9 promoter methylation and MN frequency, both measured in peripheral blood, occur at an early stage compared to carcinoma development, indicating that the approach might be suitable to monitor CRC development.
26471083 provide a full overview of the theoretical basis, development, validation, and clinical applications of the SEPT9 assay for both basic science researchers and clinical practitioners
25946211 KRAS mutations and SEPT9 promoter methylation were present in 34% (29/85) and in 82% (70/85) of primary tumor tissue samples.
25898316 SEPT9_i1 is expressed in high-grade prostate tumors suggesting it has a significant role in prostate tumorigenesis.
25526039 Results show that in plasma samples, elevated methylated SEPT9 (mSEPT9) values were detected in colorectal cancer, but not in adenomas. Tissue levels of mSEPT9 alone are not sufficient to predict mSEPT9 levels in plasma.
25472714 we demonstrate that SEPT9 negatively regulates EGFR degradation by preventing the association of the ubiquitin ligase Cbl with CIN85, resulting in reduced EGFR ubiquitylation
25293760 Authors report here that the septins SEPT2, -9, -11, and probably -7 form fibrillar structures around the chlamydial inclusion.
24633736 SEPT9 promoter methylation is detected in free circulating DNA of lung cancer patients
24535900 Our results suggest that SEPT9 gene methylation is a valuable biomarker for screening CRC in the Chinese population
24386354 prognostic value of SHOX2 and SEPT9 DNA methylation in benign, paramalignant and malignant pleural effusions
24344182 SEPT9 repeat motifs bind and bundle MTs, and thereby promote asymmetric neurite growth.
24127542 The study shows increased SEPT9 expression as a consequence of genomic amplification and is the first study to profile SEPT9_v1 through SEPT9_v7 isoform-specific mRNA expression in tumor and nontumor tissues from patients with breast cancer.
24067372 SEPT9 isoform 1 is required for the association between HIF-1alpha and importin-alpha to promote efficient nuclear translocation.
23990466 SEPT9 plays multiple roles in abscission, one of which is regulated by the action of Cdk1 and Pin1.
23988185 epigenetic deregulation of SEPT9 plays a role in the development of colorectal cancer. Aberrant hypermethylation of this gene occurs only in one of its CpG islands and this hypermethylation likely is an early event in the adenoma-carcinoma sequence.
23862763 Serum methylation levels of TAC1, SEPT9, and EYA4 were significant discriminants between stage I colorectal cancer and healthy controls.
23572511 SEPT2 forms a 1:1:1 complex with SEPT7 and SEPT9.
23118862 Matrix stiffness regulates endothelial cell proliferation through septin 9
23049919 SEPT9 in plasma has a role in both left- and right-sided colon cancers
22981636 The identification of a SEPT9 mutation in a neonate with respiratory distress due to vocal cord paralysis expands the differential diagnosis in these patients.
22956766 Myeloid K562 cells express three SEPT9 isoforms, all of which have an equal propensity to hetero-oligomerize with SEPT7-containing hexamers to generate octameric heteromers.
22632162 FITC-labeled Tat 47-59 peptide upregulates gene expression of septin 9 (SEPT9) in U-937 macrophages
22278362 SEPT9_v4 expression may be clinically relevant and contribute to some forms of drug resistance.
22123865 SEPT9 holds a terminal position in the septin octamers, mediating abscission-specific polymerization during cytokinesis.
21831286 SEPT9 gene amplification and overexpression during human breast tumorigenesis
21767235 Data illustrated roles of SEPT9 that might contribute to hetero-trimeric septin complex formation. SEPT9 can substitute for septins of the SEPT2 group and partially for SEPT7.
21737677 uneven distribution of SEPT9 among core septin heteromers causes heterogeneity with respect to both subunit number and polymerization interfaces
21267688 Increased methylation of septin 9 resulting in decreased mRNA and protein expression is associated with colorectal cancer.
21059847 Data demonstrate that SEPT9 mediates the localization of the vesicle-tethering exocyst complex to the midbody, providing mechanistic insight into the role of SEPT9 during cell division.
20682395 Case represents an additional MLL-SEPT9-positive AML that was considered to be related to therapy. RT-PCR and sequencing analyses demonstrated MLL-SEPT9 fusion transcripts with the breakpoint of MLL exon 8/SEPT9 exon 2 and MLL exon 9/SEPT9 exon 2.
20407014 New insights and validation are provided for applying SEPT9 transcript variant 1 as a potential target for antitumor therapy via interruption of the HIF-1 pathway.
20198315 Observational study of gene-disease association. (HuGE Navigator)
20140221 Data show that methylated DNA from advanced precancerous colorectal lesions can be detected using a panel of two DNA methylation markers, ALX4 and SEPT9.
20113838 Coexistence of alternative MLL-SEPT9 fusion transcripts in an acute myeloid leukemia with t(11;17)(q23;q25).
20029986 Results verify IRX1, EBF3, SLC5A8, SEPT9, and FUSSEL18 as valid methylation markers in two separate sets of HNSCC specimens; also preliminarily show a trend between HPV16 positivity and target gene hypermethylation of IRX1, EBF3, SLC5A8, and SEPT9.
20019224 missense mutation c.262C>T results in a phenotypic spectrum of hereditary neuralgic amyotrophy in a large Japanese family
19939853 A total of seven heterogeneous SEPT9 duplications have been identified in this study as a causative factor of hereditary neuralgic amyotrophy.
19851296 Observational study of gene-disease association. (HuGE Navigator)
19451530 Results suggest that mutation of the SEPT9 gene is the molecular basis of some cases of hereditary neuralgic amyotrophy (HNA).
19406918 SEPT9 assay successfully identified 72% of cancers at a specificity of 93% in the training study and 68% of cancers at a specificity of 89% in the testing study
19251694 a new mechanism of oxygen-independent activation of HIF-1 has been identified that is mediated by SEPT9_v1 blockade of RACK1 activity on HIF-1alpha degradation
19204161 Rarely, individuals with sporadic brachial plexopathy may have the same conserved 17q25 sequence found in many North American kindreds with the hereditary version.
19204161 Observational study of gene-disease association. (HuGE Navigator)
19139049 An intragenic 38 Kb SEPT9 duplication that is linked to hereditary neuralgic amyotrophy in 12 North American families that share the common founder haplotype, is reported.
19071215 In mammary epithelial cells, up-regulation of SEPT9_v1 stabilizes JNK by delaying its degradation, thereby activating the JNK transcriptome and suggesting a a novel functional role of SEPT9_v1 in driving cellular proliferation of mammary epithelial cells.
19018278 SEPT9 DNA methylation may have a role in colorectal cancer
18642054 monocytic differentiation and a poor prognosis may also be associated with acute myeloid leukemia with the variant MLL/SEPT9 fusion transcript
18525421 In this report confirming SEPT9 mutation in a family with suspected hereditary neuralgic amyotrophy, electrophysiological, clinical phenotype, and molecular genetic data of three members are presented.
18492087 Both children with dysmorphic syndrome of hereditary neuralgic amyotrophy were shown to have inherited the paternal SEPT9 mutation.
18075300 SEPT9_V1 confers resistance to microtubule-mediated HIF-1 inhibitors.
17546647 SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling
16424018 MSF-A stabilizes HIF-1alpha protein by preventing its ubiquitination and, consequently, activates HIF downstreatm survival genes to promotor tumor progression and angiogenesis
16186812 Three mutations in the gene septin 9 (SEPT9) in six families with hereditary neuralgic amyotrophy linked to chromosome 17q25 were reported.
16161048 SEPT9_v1 is also upregulated in both serous and mucinous carcinomas
15782116 overexpression of SEPT9 in neoplasia is not simply a proliferation-associated phenomenon, despite its role in cytokines
15485874 Sept7/9b/11 form a complex that has effects on filament elongation, bundling, or disruption
12626509 Filament formation of MSF-A, a mammalian septin, in human mammary epithelial cells depends on interactions with microtubules
12388755 These results reveal that MSF is required for the completion of cytokinesis and suggest a role that is distinct from that of Nedd5.
12095151 Fusion of MLL and MSF in adult de novo acute myelomonocytic leukemia (M4) with t(11;17)(q23;q25).
11593400 Describes alternative splicing of this gene.

AA Sequence

MKKSYSGGTRTSSGRLRRLGDSSGPALKRSFEVEEVETPNSTPPRRVQTPLLRATVASSTQKFQDLGVKN      1 - 70
SEPSARHVDSLSQRSPKASLRRVELSGPKAAEPVSRRTELSIDISSKQVENAGAIGPSRFGLKRAEVLGH     71 - 140
KTPEPAPRRTEITIVKPQESAHRRMEPPASKVPEVPTAPATDAAPKRVEIQMPKPAEAPTAPSPAQTLEN    141 - 210
SEPAPVSQLQSRLEPKPQPPVAEATPRSQEATEAAPSCVGDMADTPRDAGLKQAPASRNEKAPVDFGYVG    211 - 280
IDSILEQMRRKAMKQGFEFNIMVVGQSGLGKSTLINTLFKSKISRKSVQPTSEERIPKTIEIKSITHDIE    281 - 350
EKGVRMKLTVIDTPGFGDHINNENCWQPIMKFINDQYEKYLQEEVNINRKKRIPDTRVHCCLYFIPATGH    351 - 420
SLRPLDIEFMKRLSKVVNIVPVIAKADTLTLEERVHFKQRITADLLSNGIDVYPQKEFDEDSEDRLVNEK    421 - 490
FREMIPFAVVGSDHEYQVNGKRILGRKTKWGTIEVENTTHCEFAYLRDLLIRTHMQNIKDITSSIHFEAY    491 - 560
RVKRLNEGSSAMANGMEEKEPEAPEM                                                561 - 586
//

Text Mined References (98)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26633373 2015 Simultaneous Analysis of SEPT9 Promoter Methylation Status, Micronuclei Frequency, and Folate-Related Gene Polymorphisms: The Potential for a Novel Blood-Based Colorectal Cancer Biomarker.
26471083 2015 SEPT9: A Specific Circulating Biomarker for Colorectal Cancer.
25946211 2015 Comparison of genetic and epigenetic alterations of primary tumors and matched plasma samples in patients with colorectal cancer.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25898316 2015 High SEPT9_i1 protein expression is associated with high-grade prostate cancers.
25526039 2014 Detection of methylated septin 9 in tissue and plasma of colorectal patients with neoplasia and the relationship to the amount of circulating cell-free DNA.
25472714 2015 SEPT9 negatively regulates ubiquitin-dependent downregulation of EGFR.
25468996 2014 E-cadherin interactome complexity and robustness resolved by quantitative proteomics.
25416956 2014 A proteome-scale map of the human interactome network.
25293760 2014 Septins arrange F-actin-containing fibers on the Chlamydia trachomatis inclusion and are required for normal release of the inclusion by extrusion.
24633736 2014 Septin 9 promoter region methylation in free circulating DNA-potential role in noninvasive diagnosis of lung cancer: preliminary report.
24535900 2014 High methylation of the SEPT9 gene in Chinese colorectal cancer patients.
24386354 2013 Diagnostic and prognostic value of SHOX2 and SEPT9 DNA methylation and cytology in benign, paramalignant and malignant pleural effusions.
24344182 2013 Novel septin 9 repeat motifs altered in neuralgic amyotrophy bind and bundle microtubules.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24127542 2014 Septin 9 amplification and isoform-specific expression in peritumoral and tumor breast tissue.
24067372 2013 SEPT9_i1 is required for the association between HIF-1? and importin-? to promote efficient nuclear translocation.
23990466 2013 Mitotic regulation of SEPT9 protein by cyclin-dependent kinase 1 (Cdk1) and Pin1 protein is important for the completion of cytokinesis.
23988185 2013 Aberrant septin 9 DNA methylation in colorectal cancer is restricted to a single CpG island.
23942779 2013 A genome-wide association study of behavioral disinhibition.
23862763 2013 Serum methylation levels of TAC1. SEPT9 and EYA4 as diagnostic markers for early colorectal cancers: a pilot study.
23572511 2013 Septins 2, 7 and 9 and MAP4 colocalize along the axoneme in the primary cilium and control ciliary length.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23118862 2012 Matrix stiffness regulates endothelial cell proliferation through septin 9.
23049919 2012 Detection of methylated SEPT9 in plasma is a reliable screening method for both left- and right-sided colon cancers.
22981636 2013 Neonatal vocal cord paralysis-an early presentation of hereditary neuralgic amyotrophy due to a mutation in the SEPT9 gene.
22956766 2012 Mammalian SEPT9 isoforms direct microtubule-dependent arrangements of septin core heteromers.
22837378 2012 Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22278362 2012 Expression of the SEPT9_i4 isoform confers resistance to microtubule-interacting drugs.
22123865 2011 SEPT9 occupies the terminal positions in septin octamers and mediates polymerization-dependent functions in abscission.
21831286 2011 Septin 9 isoform expression, localization and epigenetic changes during human and mouse breast cancer progression.
21767235 2011 Characterization of human septin interactions.
21737677 2011 Deciphering the rules governing assembly order of mammalian septin complexes.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
21267688 2011 The influence of methylated septin 9 gene on RNA and protein level in colorectal cancer.
21059847 2010 Distinct roles of septins in cytokinesis: SEPT9 mediates midbody abscission.
20966902 2011 Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.
20682395 2010 Emergence of two unrelated clones in acute myeloid leukemia with MLL-SEPT9 fusion transcript.
20407014 2010 Targeted knockdown of SEPT9_v1 inhibits tumor growth and angiogenesis of human prostate cancer cells concomitant with disruption of hypoxia-inducible factor-1 pathway.
20198315 2010 Association of genetic variants with hemorrhagic stroke in Japanese individuals.
20140221 2010 Performance of epigenetic markers SEPT9 and ALX4 in plasma for detection of colorectal precancerous lesions.
20113838 2010 Coexistence of alternative MLL-SEPT9 fusion transcripts in an acute myeloid leukemia with t(11;17)(q23;q25).
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20029986 2010 HPV status-independent association of alcohol and tobacco exposure or prior radiation therapy with promoter methylation of FUSSEL18, EBF3, IRX1, and SEPT9, but not SLC5A8, in head and neck squamous cell carcinomas.
20019224 2010 Phenotypic spectrum of hereditary neuralgic amyotrophy caused by the SEPT9 R88W mutation.
19939853 2010 Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy.
19851296 2010 Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19451530 2009 SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19406918 2009 Circulating methylated SEPT9 DNA in plasma is a biomarker for colorectal cancer.
19251694 2009 SEPT9_v1 up-regulates hypoxia-inducible factor 1 by preventing its RACK1-mediated degradation.
19204161 2009 SEPT9 mutations and a conserved 17q25 sequence in sporadic and hereditary brachial plexus neuropathy.
19145258 2009 Septins regulate bacterial entry into host cells.
19139049 2009 Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.
19071215 2009 Up-regulation of SEPT9_v1 stabilizes c-Jun-N-terminal kinase and contributes to its pro-proliferative activity in mammary epithelial cells.
19018278 2008 Sensitive detection of colorectal cancer in peripheral blood by septin 9 DNA methylation assay.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18642054 2008 A variant-type MLL/SEPT9 fusion transcript in adult de novo acute monocytic leukemia (M5b) with t(11;17)(q23;q25).
18525421 2008 Painful brachial plexopathies in SEPT9 mutations: adverse outcome related to comorbid states.
18492087 2008 Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation--a family study.
18220336 2008 Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.
18075300 2007 SEPT9_V1 protein expression is associated with human cancer cell resistance to microtubule-disrupting agents.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17922164 2007 Characterization of a SEPT9 interacting protein, SEPT14, a novel testis-specific septin.
17546647 2007 SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling.
17468182 2007 Translational control of SEPT9 isoforms is perturbed in disease.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16964243 2006 A probability-based approach for high-throughput protein phosphorylation analysis and site localization.
16424018 2006 MSF-A interacts with hypoxia-inducible factor-1alpha and augments hypoxia-inducible factor transcriptional activation to affect tumorigenicity and angiogenesis.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16186812 2005 Mutations in SEPT9 cause hereditary neuralgic amyotrophy.
16161048 2006 Altered patterns of transcription of the septin gene, SEPT9, in ovarian tumorigenesis.
16007136 2005 Possible role of Rho/Rhotekin signaling in mammalian septin organization.
15915442 2005 Expression profiling the human septin gene family.
15782116 2005 Multimodality expression profiling shows SEPT9 to be overexpressed in a wide range of human tumours.
15558029 2005 Cytoskeletal modification of Rho guanine nucleotide exchange factor activity: identification of a Rho guanine nucleotide exchange factor as a binding partner for Sept9b, a mammalian septin.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15485874 2004 Biochemical and cell biological analyses of a mammalian septin complex, Sept7/9b/11.
15302935 2004 Large-scale characterization of HeLa cell nuclear phosphoproteins.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14648661 2003 Altered expression of the septin gene, SEPT9, in ovarian neoplasia.
12626509 2003 Filament formation of MSF-A, a mammalian septin, in human mammary epithelial cells depends on interactions with microtubules.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12388755 2002 The mammalian septin MSF localizes with microtubules and is required for completion of cytokinesis.
12095151 2002 Fusion of MLL and MSF in adult de novo acute myelomonocytic leukemia (M4) with t(11;17)(q23;q25).
11593400 2001 Genomic organization, complex splicing pattern and expression of a human septin gene on chromosome 17q25.3.
10987277 2000 Isolation and mapping of a human septin gene to a region on chromosome 17q, commonly deleted in sporadic epithelial ovarian tumors.
10673329 2000 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.
10673328 2000 Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome.
10485469 1999 AF17q25, a putative septin family gene, fuses the MLL gene in acute myeloid leukemia with t(11;17)(q23;q25).
10339604 1999 MSF (MLL septin-like fusion), a fusion partner gene of MLL, in a therapy-related acute myeloid leukemia with a t(11;17)(q23;q25).
10231032 1999 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.
9439655 1997 Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25.