CECR2
Homo sapiens
Gene Name: CECR2, histone acetyl-lysine reader
Aliases:
Chromosome No: 22
Chromosome Band: 22q11.1-q11.21
Genetic Category: Rare single gene variant
Aliases:
Chromosome No: 22
Chromosome Band: 22q11.1-q11.21
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 5
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 5
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
A deletion disurpting an exon of the CECR2 gene was detected in a female ASD patient; this variant was not observed in controls (Prasad et al., 2012).
Molecular Function
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.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
