KAT2B
Homo sapiens
Gene Name: K(lysine) acetyltransferase 2B
Aliases: CAF, P/CAF, PCAF
Chromosome No: 3
Chromosome Band: 3p24.3
Genetic Category: Rare single gene variant--Functional
Aliases: CAF, P/CAF, PCAF
Chromosome No: 3
Chromosome Band: 3p24.3
Genetic Category: Rare single gene variant--Functional
Summary Statistics:
ASD Reports: 8
Recent Reports: 2
Annotated variants: 8
Associated CNVs: 7
Evidence score: 3
ASD Reports: 8
Recent Reports: 2
Annotated variants: 8
Associated CNVs: 7
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
This gene was identified by TADA (transmission and de novo association) analysis of a combined dataset from the Simons Simplex Collection (SSC) and the Autism Sequencing Consortium (ASC) as a gene strongly enriched for variants likely to affect ASD risk with a false discovery rate (FDR) of <0.1 (Sanders et al., 2015); among the variants identified in this gene was one de novo loss-of-function (LoF) variant.
Molecular Function
The protein encoded by this gene functions as a histone acetyltransferase (HAT) to promote transcriptional activation and acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
ASD
Support
Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk
ASD
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
ASD
Recent Recommendation
Tissue-specific enhancer functional networks for associating distal regulatory regions to disease
ASD
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD
