H2BW1: H2B.W histone 1
A testis-specific histone variant involved in chromatin structure and spermatogenesis.
Gene Information Card
| Symbol | H2BW1 |
|---|---|
| Full Name | H2B.W histone 1 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq22.2 |
| NCBI Gene ID | 100312745 ncbi.nlm.nih.gov/gene/100312745 |
| Ensembl ID | ENSG00000203812 |
| UniProt ID | Q7Z2G1 |
| OMIM ID | 300906 |
| HGNC ID | 33768 |
| Aliases | H2BFWT, H2B.W, H2BFWT1, H2BWT |
Description
H2BW1 (H2B.W histone 1) is a testis-specific histone H2B variant encoded on the X chromosome. It replaces conventional H2B in the chromatin of spermatogenic cells, playing a role in chromatin compaction and gene regulation during spermatogenesis. The protein contains a conserved histone fold domain and is expressed predominantly in the testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Altered expression or mutation may disrupt chromatin remodeling during spermatogenesis, leading to impaired sperm production. | ClinVar, OMIM |
| Testicular germ cell tumors | Aberrant H2BW1 expression may contribute to tumorigenesis through epigenetic dysregulation. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Fallopian tube | 0.2 | Not detected |
| Other tissues | <0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 15.3 | Testicular germ cell tumor model |
| Embryonic stem cell (H1) | 0.0 | Not expressed |
| HeLa | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.214C>T (p.Arg72Cys) | missense | <0.01% | Unknown significance; rare variant |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., start codon loss) are predicted to abolish protein expression, potentially impairing spermatogenesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • nucleosome assembly |
| • chromatin organization | • spermatogenesis |
| • protein heterodimerization activity |
Pathways
• Chromatin organization
• Spermatogenesis
Protein Summary
H2BW1 is a 126-amino acid histone H2B variant with a molecular weight of approximately 14 kDa. It contains a core histone fold domain (residues 30-100) that mediates dimerization with H2A and incorporation into nucleosomes. The protein is specifically expressed in testis and localizes to the nucleus, where it participates in chromatin remodeling during spermatogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H2BW1 Knockout HEK293 Cell Line | EDJ-KQ13713 | Human | 158983 | Details Get a Quote |
| H2BW1 Knockout HeLa Cell Line | EDJ-KQ58799 | Human | 158983 | Details Get a Quote |
| H2BW1 Knockout A-549 Cell Line | EDJ-KQ67283 | Human | 158983 | Details Get a Quote |
| H2BW1 Knockout HCT 116 Cell Line | EDJ-KQ75683 | Human | 158983 | Details Get a Quote |
