H2BC5

Chr 6

H2B clustered histone 5

Also known as: H2B.1B, H2B/a, H2B/b, H2B/g, H2B/h, H2B/k, H2B/l, H2BFA

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 intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Two transcripts that encode the same protein have been identified for this gene, which is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
1.97
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.97LOEUF
pLI 0.000
Z-score -2.43
OE 2.79 (1.011.97)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.01Z-score
OE missense 1.00 (0.821.22)
69 obs / 69.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?2.79 (1.011.97)
00.351.4
Missense OE?1.00 (0.821.22)
00.61.4
Synonymous OE?2.48
01.21.6
LoF obs/exp: 6 / 2.2Missense obs/exp: 69 / 69.3Syn Z: -6.43

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

H2BC5 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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