Gene Symbol: Cecr2
Description: CECR2, histone acetyl-lysine reader
Alias: 2610101O16Rik, 2810409N01Rik, Gtl4, mKIAA1740, cat eye syndrome critical region protein 2 homolog, cat eye syndrome critical region protein 2, cat eye syndrome chromosome region, candidate 2 homolog, gene trap locus 4
Fairbridge N, Dawe C, Niri F, Kooistra M, King Jones K, McDermid H. Cecr2 mutations causing exencephaly trigger misregulation of mesenchymal/ectodermal transcription factors. Birth Defects Res A Clin Mol Teratol. 2010;88:619-25 pubmed publisher
Over 200 mouse genes are associated with neural tube defects (NTDs), including Cecr2, the bromodomain-containing subunit of the CERF chromatin remodeling complex...
Banting G, Barak O, Ames T, Burnham A, Kardel M, Cooch N, et al
. CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L. Hum Mol Genet. 2005;14:513-24 pubmed
Chromatin remodeling complexes play critical roles in development. Here we describe a transcription factor, CECR2, which is involved in neurulation and chromatin remodeling...
Thompson P, Norton K, Niri F, Dawe C, McDermid H. CECR2 is involved in spermatogenesis and forms a complex with SNF2H in the testis. J Mol Biol. 2012;415:793-806 pubmed publisher
..b>CECR2 is a binding partner to the ISWI (imitation switch) ATPase SNF2L/SMARCA1 and is involved in neural tube closure ..
Tate P, Lee M, Tweedie S, Skarnes W, Bickmore W. Capturing novel mouse genes encoding chromosomal and other nuclear proteins. J Cell Sci. 1998;111 ( Pt 17):2575-85 pubmed
..Motifs in two of the isolated genes suggest new links between cellular regulatory mechanisms (ubiquitination and phosphorylation) and mRNA splicing and chromosome structure/function. ..
Footz T, Brinkman Mills P, Banting G, Maier S, Riazi M, Bridgland L, et al
. Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere. Genome Res. 2001;11:1053-70 pubmed
Davidson C, Li Q, Churchill G, Osborne L, McDermid H. Modifier locus for exencephaly in Cecr2 mutant mice is syntenic to the 10q25.3 region associated with neural tube defects in humans. Physiol Genomics. 2007;31:244-51 pubmed
..We previously reported that a homozygous Cecr2 mutation on a BALB/c background causes exencephaly at a frequency of 74% compared with 0% on an FVB/N background...
Dawe C, Kooistra M, Fairbridge N, Pisio A, McDermid H. Role of chromatin remodeling gene Cecr2 in neurulation and inner ear development. Dev Dyn. 2011;240:372-83 pubmed publisher
The loss of Cecr2, which encodes a chromatin remodeling protein, has been associated with the neural tube defect (NTD) exencephaly and open eyelids in mice...
Kooistra M, Leduc R, Dawe C, Fairbridge N, Rasmussen J, Man J, et al
. Strain-specific modifier genes of Cecr2-associated exencephaly in mice: genetic analysis and identification of differentially expressed candidate genes. Physiol Genomics. 2012;44:35-46 pubmed publisher
..In mice with a mutation in Cecr2, the cranial NTD exencephaly shows strain-specific differences in penetrance, with 74% penetrance in BALB/cCrl and ..
Fong K, Hufnagel R, Khadka V, Corley M, Maunakea A, Fogelgren B, et al
. A mutation in the tuft mouse disrupts TET1 activity and alters the expression of genes that are crucial for neural tube closure. Dis Model Mech. 2016;9:585-96 pubmed publisher
..Among them, the expressions of Cecr2, Epha7 and Grhl2 were significantly reduced in some embryos presenting neural tube closure defects, whereas one or ..