Aliases: H2B/r, H2BFR, H2BJ, HIST1H2BJ
Chromosome No: 6
Chromosome Band: 6p22.1
Genetic Category: Rare single gene variant-
ASD Reports: 3
Recent Reports: 1
Annotated variants: 2
Associated CNVs: 0
Evidence score: 2
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Relevance to Autism
A de novo missense variant in the H2BC11 gene (formerly known as HIST1H2BJ) was identified in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2014, while a de novo nonsense variant in this gene was identified in a Canadian ASD proband in Tammimies et al., 2015. TADA analysis of 4,504 ASD trios and 3,012 unaffected control/siblings trios from trio-based exome/genome sequencing studies identified H2BC11 as an ASD candidate gene with a q-value < 0.1 (Du et al., 2019).
Molecular Function
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family.
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