lundi 2 janvier 2012

Mutated genes in cancer (42) – KLF6


In databases:

● Entrez ( 1316 or KLF6
● Ensembl ( ENSG00000067082
● UniProt ( Q99612
● GeneCards ( KLF6
● HGNC ( 2235 or KLF6
● EC number : EC, EC

Gene locus:


Protein name:

Kruppel-like factor 6

Protein Size:

283 amino acids; about 32 kDa


This gene encodes a member of the Kruppel-like factor family of transcriptional regulators involved in development and differentiation as well as in growth signaling pathways, apoptosis, proliferation and angiogenesis. KLF6 functions as a tumor suppressor. Multiple transcript variants encoding different isoforms have been found for this gene, some of which are implicated in carcinogenesis.

Cancer-related alterations:

Somatic KLF6 mutations have been reported in astrocytoma, glioblastoma and meningioma, nasopharyngeal carcinoma, prostate cancer, colorectal cancer, hepatocellular carcinoma, gastric cancer. Most mutation events are substitutions.

References (open access):

Nucleo-cytoplasmic localization domains regulate Krüppel-like factor 6 (KLF6) protein stability and tumor suppressor function. Rodríguez E, Aburjania N, Priedigkeit NM, DiFeo A, Martignetti JA. PLoS One. 2010 Sep 9;5(9). pii: e12639.

A germline DNA polymorphism enhances alternative splicing of the KLF6 tumor suppressor gene and is associated with increased prostate cancer risk. Narla G, Difeo A, Reeves HL, Schaid DJ, Hirshfeld J, Hod E, Katz A, Isaacs WB, Hebbring S, Komiya A, McDonnell SK, Wiley KE, Jacobsen SJ, Isaacs SD, Walsh PC, Zheng SL, Chang BL, Friedrichsen DM, Stanford JL, Ostrander EA, Chinnaiyan AM, Rubin MA, Xu J, Thibodeau SN, Friedman SL, Martignetti JA. Cancer Res. 2005 Feb 15;65(4):1213-22.

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