H3-7

Chr 1

H3.7 histone (putative)

Also known as: H3-2, H3.7, HIST2H3PS2, p06

NCBI Gene: 440686 ENSG00000273213 UniProt: Q5TEC6

Histones are basic nuclear proteins responsible for 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 a member of the H3 family, but is found outside of the histone cluster. There is evidence that it is transcribed and has an intact CDS, but residue changes in the protein suggest that it may be on its way to becoming a psuedogene. [provided by RefSeq, Aug 2019]

Research

ResearchGenerating clinical summary…

DNmechanism

Clinical Summary— H3-7

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ClinVar Variants

2 total variants — no pathogenic classifications of 2 total submissions

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Clinical Trials

1 active or recruiting trial — potential therapeutic options may be available

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

This gene — mechanism propensity

0.79top 25%

GOF

0.13100th %ile

LOF

0.60top 25%

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

2 submitted variants in ClinVar

ClinVar

Classification Summary

Likely Benign2

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Synonymous	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	0	0
Likely Benign	2	2
Benign	0	0
Total	2	2

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

9 pathogenic / likely-pathogenic (of 10) ClinVar copy-number / structural variants overlap H3-7 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →