SEPT6 (septin 6)

2002-12-01   Uta Fuchs , Arndt Borkhardt 

Childrens University Hospital Giessen, Hematology & Oncology, Feulgenstr. 12, 35392 Giessen, Germany

Identity

HGNC
LOCATION
Xq24
IMAGE
Atlas Image
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
ALIAS
KIAA0128
FUSION GENES

DNA/RNA

Description

12 Exons

Transcription

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

Proteins

Atlas Image

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 name
acute myloid leukemia
Disease
AML-M2 and M4
Cytogenetics
ins(X;11)(q24;q23) ins(X;11)(q22;q13q25)
Hybrid gene
MLL-Septin 6
Atlas Image
Fusion protein
MLL exons 1 to 8 - Septin 6 exon 2 to end
Oncogenesis
basically unknown

Bibliography

Pubmed IDLast YearTitleAuthors

Citation

Uta Fuchs ; Arndt Borkhardt

SEPT6 (septin 6)

Atlas Genet Cytogenet Oncol Haematol. 2002-12-01

Online version: http://atlasgeneticsoncology.org/gene/376/css/template-card.css