Cat Eye Syndrome Chromosome Region, Candidate 2 (CECR2)

CECR2 gene contains 19 exons and spans about 186 kb. Intron 1 extends about 106 kb. The mouse Cecr2 gene has a similar structure.The deduced protein contains 1,119 amino acids. RT-PCR followed by ELISA detected moderate expression in all tissues tested except spleen. The deduced 1,464-amino acid protein contains a bromodomain.Northern blot analysis of 12 tissues detected distinct CECR2 banding only in placenta, with transcripts of about 2, 4, 6.5, and 9 kb. Other tissues showed a smear beginning at about 10 kb, with variable intensities between tissues.Cecr2 expression was predominantly neural in the embryo, and mice homozygous for the Cecr2 gene trap insertion showed a high penetrance of exencephaly, which is the human equivalent of anencephaly, in a strain-dependent fashion.