C11orf21, a novel gene within the Beckwith-Wiedemann syndrome region in human chromosome 11p15.5

A novel gene, C11orf2, was identified by BLAST search in the human chromoso me 11p15.5 region potentially responsible for Beckwith-Wiedemann Syndrome ( BWS) and some cancers. Two cDNA clones with different sizes were obtained, which share a potential ORF of 399 bp and are different in their 3' untrans lated regions. This gene was revealed to be expressed exclusively in human heart and in almost no other tissues examined by northern blotting. Two tra nscripts of different sizes, 0.9 and 3.1 kb, were identified in heart, cons istent with the length of the two cDNA clones. The gene shows biallelic exp ression (non-imprinted) in fetal liver, although it is located in the impri nted domain of 11p15.5. C11orf21 codes a protein of 132 amino acids as prov ed by the expression of C11orf21-EGFP fusion protein in cultured cells. The EGFP-fusion protein expressed in cultured cells localized mainly in the cy toplasm. (C) 2000 Elsevier Science B.V. All rights reserved.