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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)

Identity

Other aliasKIAA0158
hNedd5
Pnutl3
LocusID (NCBI) 4735
Atlas_Id 44125
Location 2q37.3  [Link to chromosome band 2q37]
Location_base_pair Starts at and ends at bp from pter
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)

DNA/RNA

 
  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.

Protein

 
  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

Note
  
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.
  

Bibliography

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
 

Citation

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 : http://AtlasGeneticsOncology.org/Genes/SEPT2ID44125ch2q37.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(2;11)(q37;q23) KMT2A/SEPT2


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  FARP2/SEPT2 (2q37)


External links

Nomenclature
Cards
AtlasSEPT2ID44125ch2q37.txt
Aliases
Genomic and cartography
Gene and transcription
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)4735
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Protein Interaction databases
Ontologies - Pathways
Clinical trials, drugs, therapy
Miscellaneous
canSAR (ICR) (select the gene name)
Probes
Litterature
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed


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indexed on : Mon Jul 8 15:22:00 CEST 2019

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