H2BC1

Chr 6

H2B clustered histone 1

Also known as: H2BFU, HIST1H2BA, STBP, TH2B, TSH2B, TSH2B.1, bA317E16.3, hTSH2B

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 testis/sperm-specific member of the histone H2B family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Aug 2015]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
P/LP submissions
P/LP missense
1.87
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?
1.87LOEUF
pLI 0.103
Z-score 0.20
OE 0.81 (0.241.87)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.19Z-score
OE missense 1.37 (1.181.61)
110 obs / 80.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.81 (0.241.87)
00.351.4
Missense OE?1.37 (1.181.61)
00.61.4
Synonymous OE?2.45
01.21.6
LoF obs/exp: 1 / 1.2Missense obs/exp: 110 / 80.0Syn Z: -6.14

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

H2BC1 · 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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