Atlas of Genetics and Cytogenetics in Oncology and Haematology

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SEPT6 (septin 6)

Written2002-12Uta Fuchs, Arndt Borkhardt
Children's University Hospital Giessen, Hematology & Oncology, Feulgenstr. 12, 35392 Giessen, Germany

(Note : for Links provided by Atlas : click)


Alias (NCBI)KIAA0128
LocusID (NCBI) 23157
Atlas_Id 376
Location Xq24  [Link to chromosome band Xq24]
Location_base_pair Starts at and ends at bp from pter
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
EIF3L (22q13.1) / SEPT6 (Xq24)INSR (19p13.2) / SEPT6 (Xq24)KMT2A (11q23.3) / SEPT6 (Xq24)
SEPT6 (Xq24) / CUL4B (Xq24)SEPT6 (Xq24) / GNB5 (15q21.2)SEPT6 (Xq24) / KMT2A (11q23.3)


Description 12 Exons
Transcription Four types of transcripts: 2,3kb, 2,7kb, 3,1kb and 4,6kb coding for three isoforms.


Description Isoform A: 427 amino acids; 46,9 kDa.
Isoform B: 434 amino acids; 49,7 kDa.
Isoform D: 429 amino acids; 47,2 kDa.
Expression Ubiquitously expressed; highest levels in placenta, lung, kidney and testes, the 2,7kb transcript can be found only in fetal heart and adult brain tissue.
Localisation Cytoplasmatic
Function The conserved septin protein family was first identified in yeast and subsequently shown to play an important role in cytoskeletal organization and cytokinesis.

Implicated in

Entity acute myloid leukemia
Disease AML-M2 and M4
Cytogenetics ins(X;11)(q24;q23) ins(X;11)(q22-24;q23) t(X;3)(q22;p21) ins(X;11)(q22;q13q25)
Hybrid/Mutated Gene MLL-Septin 6
Abnormal Protein MLL exons 1 to 8 - Septin 6 exon 2 to end
Oncogenesis basically unknown


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 OA
Genes, chromosomes & cancer. 2001 ; 32 (1) : 82-88.
PMID 11477664
Septins: cytoskeletal polymers or signalling GTPases?
Field CM, Kellogg D
Trends in cell biology. 1999 ; 9 (10) : 387-394.
PMID 10481176
SEPTIN6, a human homologue to mouse Septin6, is fused to MLL in infant acute myeloid leukemia with complex chromosomal abnormalities involving 11q23 and Xq24.
Ono R, Taki T, Taketani T, Kawaguchi H, Taniwaki M, Okamura T, Kawa K, Hanada R, Kobayashi M, Hayashi Y
Cancer research. 2002 ; 62 (2) : 333-337.
PMID 11809673
MLL-SEPTIN6 fusion recurs in novel translocation of chromosomes 3, X, and 11 in infant acute myelomonocytic leukaemia and in t(X;11) in infant acute myeloid leukaemia, and MLL genomic breakpoint in complex MLL-SEPTIN6 rearrangement is a DNA topoisomerase II cleavage site.
Slater DJ, Hilgenfeld E, Rappaport EF, Shah N, Meek RG, Williams WR, Lovett BD, Osheroff N, Autar RS, Ried T, Felix CA
Oncogene. 2002 ; 21 (30) : 4706-4714.
PMID 12096348


This paper should be referenced as such :
Fuchs, U ; Borkhardt, A
SEPT6(septin 6)
Atlas Genet Cytogenet Oncol Haematol. 2003;7(1):24-25.
Free journal version : [ pdf ]   [ DOI ]

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 4 ]
  11q23 rearrangements (KMT2A) in leukaemia
t(X;11)(q22;q23) KMT2A/?
t(X;11)(q24;q23) KMT2A/SEPT6
t(X;11)(q24;q23) KMT2A/SEPT6

External links

Genomic and cartography
Gene and transcription
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
BioGPS (Tissue expression)23157
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Protein Interaction databases
Ontologies - Pathways
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Feb 19 18:00:03 CET 2021

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