H2BC12

Chr 6

H2B clustered histone 12

Also known as: H2B/S, H2BFAiii, H2BFT, H2BK, HIST1H2BK

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. This gene encodes a replication-dependent histone that is a member of the histone H2B family. The protein encoded is an antimicrobial protein with antibacterial and antifungal activity. Two transcripts that encode the same protein have been identified for this gene, which is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq, Aug 2015]

ResearchGenerating clinical summary…
0
Active trials
6
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 -2.40
OE 2.76 (1.011.97)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.21Z-score
OE missense 0.93 (0.761.14)
65 obs / 69.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?2.76 (1.011.97)
00.351.4
Missense OE?0.93 (0.761.14)
00.61.4
Synonymous OE?3.10
01.21.6
LoF obs/exp: 6 / 2.2Missense obs/exp: 65 / 69.8Syn Z: -9.37

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

H2BC12 · 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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