H2BC4

Chr 6

H2B clustered histone 4

Also known as: H2B.1, H2B/l, H2BC10, H2BC6, H2BC7, H2BC8, H2BFL, HIST1H2BC

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. The protein has antibacterial and antifungal antimicrobial activity. The main transcript variant of this gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. This transcript variant lacks a polyA tail but instead contains a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Apr 2020]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
1.92
LOEUF
Mechanism
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?
1.92LOEUF
pLI 0.004
Z-score -0.50
OE 1.37 (0.541.92)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.36Z-score
OE missense 0.88 (0.721.09)
62 obs / 70.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.37 (0.541.92)
00.351.4
Missense OE?0.88 (0.721.09)
00.61.4
Synonymous OE?2.84
01.21.6
LoF obs/exp: 3 / 2.2Missense obs/exp: 62 / 70.4Syn Z: -7.82

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

H2BC4 · 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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