Atlas of Genetics and Cytogenetics in Oncology and Haematology

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SEPT2 (septin 2)

Written2007-09Nuno Cerveira, Manuel R Teixeira
Department of Genetics, Portuguese Oncology Institute, Rua Dr. Antonio Bernardino de Almeida, 4200-072 Porto, Portugal (MRT)

(Note : for Links provided by Atlas : click)


neural precursor cell expressed
Alias_symbol (synonym)KIAA0158
Other alias
LocusID (NCBI) 4735
Atlas_Id 44125
Location 2q37.3  [Link to chromosome band 2q37]
Location_base_pair Starts at 241315187 and ends at 241354026 bp from pter ( according to hg19-Feb_2009)  [Mapping SEPT2.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CCDC93 (2q14.1) / SEPT2 (2q37.3)CTTNBP2NL (1p13.2) / SEPT2 (2q37.3)DHX32 (10q26.2) / SEPT2 (2q37.3)
FARP2 (2q37.3) / SEPT2 (2q37.3)HLA-B (6p21.33) / SEPT2 (2q37.3)KMT2A (11q23.3) / SEPT2 (2q37.3)
MNAT1 (14q23.1) / SEPT2 (2q37.3)SEPT2 (2q37.3) / AGAP1 (2q37.2)SEPT2 (2q37.3) / SEPT2 (2q37.3)


  Genomic structure of published SEPT2 alternatively spliced transcripts. Boxes indicate exons with coding regions in red. Exons are tentatively positioned in relative genomic order with overlapping exons indicating identical sequences.
Description The SEPT2 gene has 14 exons.
Transcription SEPT2 has four types of transcripts with 3.6 kb, 3.5 kb, 3.4 kb and 3.3 kb encoding the same protein, as a result of alternative splicing.


  The SEPT2 protein showing the localization of the three function-defining domains: a P loop-based GTP-binding domain flanked by a polybasic domain and the coiled-coil-region.
Description SEPT2 belongs to an evolutionarily conserved family of genes that encode a P loop-based GTP-binding domain flanked by a polybasic domain and (usually) a coiled-coil region, and assemble into homo- and hetero-oligomers and filaments with key roles in cell division cytoskeletal dynamics and secretion. The SEPT2 gene codes for a protein with 361 amino acids and a molecular weight of 41.5 kDa.
Expression SEPT2 was identified as a gene expressed in early embryonic mouse brain and down-regulated during development. It is ubiquitously expressed in cell lines and tissues with the highest protein levels found in brain tissue.
Localisation The SEPT2 protein, like other septin family members, is thought to be cytoplasmic. SEPT2 co-localises with actin filaments in interphase cells, and in dividing cells concentrates at the cleavage furrow.
Function SEPT2 is a multifunctional protein that was shown to be required for cytokinesis and to bind actin and associate with focal adhesions. Recent data support the idea that SEPT2 can have a role in chromosome congression and segregation. Additional functions have also been suggested; for instance, in rat brain lysates SEPT2 is part of a multi-septin complex that interacts with the exocyst complex, which plays a role in secretion and neurite outgrowth. SEPT2 has also been localised to senile plaques of brains in patients with Alzheimer's disease suggesting a role in neurodegeneration.
Homology The SEPT2 protein belongs to an evolutionarily family of proteins with at least 14 members and shares a very high homology with septin 1, septin 4 and septin 5.

Implicated in

Entity Acute myeloid leukemia
Disease Therapy-related AML-M2 and AML-M4
Prognosis To date, the prognosis of acute leukaemia patients with the MLL-SEPT2 fusion is not known.
Cytogenetics t(2;11)(q37;q23)
Hybrid/Mutated Gene MLL SEPT2. MLL exon 6 or 7 fused with SEPT2 exon 3.
Schematic representation of the known MLL-SEPT6 genomic breakpoints as a result of the t(2;11)(q37;q23) translocation. To date, two different fusions between MLL and SEPT2 have been reported:
A: MLL intron 6 fused with SEPT2 intron 2, and
B: MLL intron 7 fused with SEPT2 intron 2.
Abnormal Protein The N-terminal region of the MLL protein, including the AT hook, SNL-1, SNL-2 and DNA methyltransferase domains, is fused to almost the entire open-reading frame of SEPT2, containing all the three septin function-defining domains, except for the first three aminoacids. So far, no studies regarding the MLL-SEPT2 localization and function in the leukemic cell were performed.
Structure of the normal MLL and SEPT2 proteins and the resulting MLL-SEPT2 fusion protein.
Oncogenesis Although the presently available data suggest that the involvement of septins in MLL-related leukemia is only related to their capacity to oligomerize, there is some evidence that altered expression of SEPT2 may underlie the development of aneuploidy.


SEPT2 is a new fusion partner of MLL in acute myeloid leukemia with t(2;11)(q37;q23).
Cerveira N, Correia C, Bizarro S, Pinto C, Lisboa S, Mariz JM, Marques M, Teixeira MR
Oncogene. 2006 ; 25 (45) : 6147-6152.
PMID 16682951
Expression profiling the human septin gene family.
Hall PA, Jung K, Hillan KJ, Russell SE
The Journal of pathology. 2005 ; 206 (3) : 269-278.
PMID 15915442
The pathobiology of the septin gene family.
Hall PA, Russell SE
The Journal of pathology. 2004 ; 204 (4) : 489-505.
PMID 15495264
Identification of septins in neurofibrillary tangles in Alzheimer's disease.
Kinoshita A, Kinoshita M, Akiyama H, Tomimoto H, Akiguchi I, Kumar S, Noda M, Kimura J
The American journal of pathology. 1998 ; 153 (5) : 1551-1560.
PMID 9811347
A mitotic septin scaffold required for Mammalian chromosome congression and segregation.
Spiliotis ET, Kinoshita M, Nelson WJ
Science (New York, N.Y.). 2005 ; 307 (5716) : 1781-1785.
PMID 15774761
A new subtype of MLL-SEPT2 fusion transcript in therapy-related acute myeloid leukemia with t(2;11)(q37;q23): a case report and literature review.
van Binsbergen E, de Weerdt O, Buijs A
Cancer genetics and cytogenetics. 2007 ; 176 (1) : 72-75.
PMID 17574968


This paper should be referenced as such :
Cerveira, N ; Teixeira, MR
SEPT2 (septin 2)
Atlas Genet Cytogenet Oncol Haematol. 2008;12(2):153-155.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(2;11)(q37;q23) KMT2A/SEPT2
t(X;11)(q24;q23) KMT2A/SEPT6

External links

HGNC (Hugo)SEPT2   7729
Entrez_Gene (NCBI)SEPT2  4735  septin 2
AliasesDIFF6; NEDD-5; NEDD5; Pnutl3; 
GeneCards (Weizmann)SEPT2
Ensembl hg19 (Hinxton)ENSG00000168385 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168385 [Gene_View]  chr2:241315187-241354026 [Contig_View]  SEPT2 [Vega]
ICGC DataPortalENSG00000168385
TCGA cBioPortalSEPT2
Genatlas (Paris)SEPT2
SOURCE (Princeton)SEPT2
Genetics Home Reference (NIH)SEPT2
Genomic and cartography
GoldenPath hg38 (UCSC)SEPT2  -     chr2:241315187-241354026 +  2q37.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SEPT2  -     2q37.3   [Description]    (hg19-Feb_2009)
EnsemblSEPT2 - 2q37.3 [CytoView hg19]  SEPT2 - 2q37.3 [CytoView hg38]
Mapping of homologs : NCBISEPT2 [Mapview hg19]  SEPT2 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AA482233 AF038404 AK294563 BC014455 BC033559
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SEPT2
Cluster EST : UnigeneHs.721234 [ NCBI ]
CGAP (NCI)Hs.721234
Alternative Splicing GalleryENSG00000168385
Gene ExpressionSEPT2 [ NCBI-GEO ]   SEPT2 [ EBI - ARRAY_EXPRESS ]   SEPT2 [ SEEK ]   SEPT2 [ MEM ]
Gene Expression Viewer (FireBrowse)SEPT2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4735
GTEX Portal (Tissue expression)SEPT2
Human Protein AtlasENSG00000168385-SEPT2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15019   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15019  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15019
Splice isoforms : SwissVarQ15019
Domaine pattern : Prosite (Expaxy)G_SEPTIN (PS51719)   
Domains : Interpro (EBI)G_SEPTIN_dom    P-loop_NTPase    Septin    Septin2   
Domain families : Pfam (Sanger)Septin (PF00735)   
Domain families : Pfam (NCBI)pfam00735   
Conserved Domain (NCBI)SEPT2
DMDM Disease mutations4735
Blocks (Seattle)SEPT2
PDB (SRS)2QA5    2QAG    2QNR   
PDB (PDBSum)2QA5    2QAG    2QNR   
PDB (IMB)2QA5    2QAG    2QNR   
PDB (RSDB)2QA5    2QAG    2QNR   
Structural Biology KnowledgeBase2QA5    2QAG    2QNR   
SCOP (Structural Classification of Proteins)2QA5    2QAG    2QNR   
CATH (Classification of proteins structures)2QA5    2QAG    2QNR   
Human Protein Atlas [tissue]ENSG00000168385-SEPT2 [tissue]
Peptide AtlasQ15019
IPIIPI00014177   IPI00871851   IPI00892518   IPI00894340   IPI00893645   IPI00893788   IPI00893329   IPI00893477   IPI00893096   IPI00893240   IPI00892810   IPI00892932   IPI00892697   IPI00894322   IPI00894457   IPI00894088   IPI00894199   IPI00894283   IPI00894055   IPI00893658   
Protein Interaction databases
IntAct (EBI)Q15019
Ontologies - Pathways
Ontology : AmiGOexocyst  condensed chromosome kinetochore  protein binding  GTP binding  nucleus  nucleolus  cytoplasm  spindle  cytosol  axoneme  cell cortex  cell cycle  smoothened signaling pathway  spermatogenesis  actin cytoskeleton  midbody  septin complex  neuron projection development  cleavage furrow  photoreceptor connecting cilium  cadherin binding  perinuclear region of cytoplasm  cell division  ciliary membrane  cilium assembly  extracellular exosome&nb{p;&nfsP;sperm annulus  non-motile cilium  
Ontology : EGO-EBIexocyst  condensed chromosome kinetochore  protein binding  GTP binding  nucleus  nucleolus  cytoplasm  spindle  cytosol  axoneme  cell cortex  cell cycle  smoothened signaling pathway  spermatogenesis  actin cytoskeleton  midbody  septin complex  neuron projection development  cleavage furrow  photoreceptor connecting cilium  cadherin binding  perinuclear region of cytoplasm  cell division  ciliary membrane  cilium assembly  extracellular exosome  sperm annulus  non-motile cilium  
Pathways : KEGGBacterial invasion of epithelial cells   
REACTOMEQ15019 [protein]
REACTOME PathwaysR-HSA-5620912 [pathway]   
NDEx NetworkSEPT2
Atlas of Cancer Signalling NetworkSEPT2
Wikipedia pathwaysSEPT2
Orthology - Evolution
GeneTree (enSembl)ENSG00000168385
Phylogenetic Trees/Animal Genes : TreeFamSEPT2
Homologs : HomoloGeneSEPT2
Homology/Alignments : Family Browser (UCSC)SEPT2
Gene fusions - Rearrangements
Fusion : MitelmanFARP2/SEPT2 [2q37.3/2q37.3]  [t(2;2)(q37;q37)]  
Fusion : COSMICKMT2A [11q23.3]  -  SEPT2 [1972]  [fusion_1973]  [fusion_1974]  [fusion_1975]  
Fusion: TCGA_MDACCFARP2 2q37.3 SEPT2 2q37.3 LUAD
Tumor Fusion PortalSEPT2
Fusion : TICdbKMT2A [11q23.3]  -  SEPT2 [2q37.3]
Fusion Cancer (Beijing)AD_1 [SEPT2]  -  2q37.3 [FUSC002807]
Fusion Cancer (Beijing)HLA-B [6p21.33]  -  SEPT2 [2q37.3]  [FUSC000544]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSEPT2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SEPT2
Exome Variant ServerSEPT2
ExAC (Exome Aggregation Consortium)ENSG00000168385
GNOMAD BrowserENSG00000168385
Genetic variants : HAPMAP4735
Genomic Variants (DGV)SEPT2 [DGVbeta]
DECIPHERSEPT2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSEPT2 
ICGC Data PortalSEPT2 
TCGA Data PortalSEPT2 
Broad Tumor PortalSEPT2
OASIS PortalSEPT2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSEPT2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSEPT2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SEPT2
DgiDB (Drug Gene Interaction Database)SEPT2
DoCM (Curated mutations)SEPT2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SEPT2 (select a term)
NCG5 (London)SEPT2
Cancer3DSEPT2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Genetic Testing Registry SEPT2
NextProtQ15019 [Medical]
Target ValidationSEPT2
Huge Navigator SEPT2 [HugePedia]
snp3D : Map Gene to Disease4735
BioCentury BCIQSEPT2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4735
Chemical/Pharm GKB GenePA31535
Clinical trialSEPT2
canSAR (ICR)SEPT2 (select the gene name)
PubMed90 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 15:02:34 CET 2017

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