H2AJ

Chr 12

H2A.J histone

Also known as: H2AFJ

NCBI Gene: 55766 ENSG00000246705 UniProt: Q9BTM1

H2AJ encodes a variant H2A histone that serves as a core component of nucleosomes, wrapping and compacting DNA into chromatin and regulating DNA accessibility through the histone code for transcription, DNA repair, and chromosomal stability. The protein also functions as an antimicrobial peptide with antibacterial and antifungal activity. No definitive disease associations have been established for mutations in this gene based on the available data.

ResearchSummary from RefSeq, UniProt

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is located on chromosome 12 and encodes a replication-independent histone that is a variant H2A histone. The protein is divergent at the C-terminus compared to the consensus H2A histone family member. This gene also encodes an antimicrobial peptide with antibacterial and antifungal activity.[provided by RefSeq, Oct 2015]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.35

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429