CECR2 Chromosome 22
CECR2 histone acetyl-lysine reader
Upload your DNA to see your personal genotypes for variants in CECR2.
What This Gene Does
This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Gene Info
Gene Group
"Bromodomain containing|CERF complex"
Locus Type
gene with protein product
Location
22q11.1-q11.21
Ensembl
ENSG00000099954
Associated Conditions (2)
CECR2-related neurodevelopmental disorder
See cases
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2147031368 | Health Risk | Conflicting classifications of pathogenicity | CECR2-related neurodevelopmental disorder, See cases, CECR2-related neurodevelopmental disorder |