SEPT6 (septin 6)

2002-12-01 Uta Fuchs , Arndt Borkhardt Affiliation

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

Identity

HGNC

SEPT6

LOCATION

Xq24

IMAGE

LEGEND

Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics

LOCUSID

23157

ALIAS

KIAA0128

FUSION GENES

Show Gene Fusions

DNA/RNA

Description

12 Exons

Transcription

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

Proteins

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

Fusion protein

MLL exons 1 to 8 - Septin 6 exon 2 to end

Oncogenesis

basically unknown

Article Bibliography

Pubmed ID	Last Year	Title	Authors

Citation

Uta Fuchs ; Arndt Borkhardt

SEPT6 (septin 6)

Atlas Genet Cytogenet Oncol Haematol. 2002-12-01

Online version: http://atlasgeneticsoncology.org/gene/376/js/lib/cancer-prone-explorer/