H2BW1

Chr X

H2B.W histone 1

Also known as: H2BFWT, TH2B-175

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-independent histone that is a member of the H2B histone family that is specifically expressed in sperm nuclei. A polymorphism in the 5' UTR of this gene is associated with male infertility.[provided by RefSeq, Oct 2015]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
P/LP submissions
P/LP missense
1.74
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?
1.74LOEUF
pLI 0.002
Z-score 0.29
OE 0.86 (0.411.74)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.60Z-score
OE missense 1.18 (1.011.38)
110 obs / 93.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.86 (0.411.74)
00.351.4
Missense OE?1.18 (1.011.38)
00.61.4
Synonymous OE?0.80
01.21.6
LoF obs/exp: 4 / 4.7Missense obs/exp: 110 / 93.6Syn Z: 0.97

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

H2BW1 · 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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