H2AJ

Chr 12

H2A.J histone

Also known as: H2AFJ

NCBI Gene: 55766 ENSG00000246705 UniProt: Q9BTM1 OMIM: 602791

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.

OMIM 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]

OMIM ResearchGenerating clinical summary…

Active trials

—

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in H2AJ?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 700

135 rare PASS variants

Rare truncating (LoF)

1 in 9,300

24 rare PASS variants

Rare synonymous (reference)

1 in 440

104 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for H2AJ. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 710	1 in 7,800
South Asian	~43k	1 in 740	1 in 5,400
Remaining (unassigned)	~30k	1 in 430	≈ 1 in 30,000
European (Finnish)	~27k	1 in 980	none seen
Admixed American	~22k	1 in 470	≈ 1 in 11,000
African / African American	~21k	1 in 700	≈ 1 in 8,100
East Asian	~20k	1 in 860	none seen
Ashkenazi Jewish	~13k	≈ 1 in 6,500	none seen
Middle Eastern	~2,884	1 in 410	≈ 1 in 2,900

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓