H2BC17
Histone H2B Type 1-C/E/F/G/I
Gene Information Card
| Symbol | H2BC17 |
|---|---|
| Full Name | H2B clustered histone 17 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.1 |
| NCBI Gene ID | 8347 ncbi.nlm.nih.gov/gene/8347 |
| Ensembl ID | ENSG00000124529 |
| UniProt ID | P62807 |
| OMIM ID | 602833 |
| HGNC ID | 4751 |
| Aliases | HIST1H2BC, H2B/c, H2B.1, H2BFC |
Description
H2BC17 (H2B clustered histone 17) is a member of the histone H2B family and is located within the histone gene cluster on chromosome 6p22.1. It encodes a replication-dependent histone that is a core component of the nucleosome, wrapping DNA to form chromatin. H2B histones undergo various post-translational modifications (e.g., ubiquitination, acetylation) that regulate transcription, DNA repair, and chromosome condensation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered H2B expression and modification patterns contribute to chromatin dysregulation and oncogenesis | COSMIC, ClinVar |
| Immunodeficiency | Mutations in histone genes can affect immune cell development and function | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 22.1 | High |
| Lymph node | 18.7 | Medium |
| Spleen | 16.3 | Medium |
| Brain | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 35.2 | Leukemia cell line |
| HeLa | 30.1 | Cervical cancer cell line |
| HEK293 | 25.8 | Embryonic kidney cell line |
| HepG2 | 20.4 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | 0.01% | Unknown functional impact |
| c.100C>T | nonsense | 0.005% | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to truncated protein may impair nucleosome assembly.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • nucleosome assembly | • chromatin organization |
| • DNA binding | • protein heterodimerization activity |
| • nucleus |
Pathways
• Chromatin organization
• Packaging of telomere ends
• Formation of the beta-catenin:TCF transactivating complex
Protein Summary
Histone H2B type 1-C/E/F/G/I is a 126-amino acid core histone protein that forms the nucleosome by dimerizing with H2A and associating with H3 and H4. It is ubiquitinated at lysine 120 (K120) to regulate transcription elongation and DNA damage response. The protein is highly conserved and expressed in proliferating cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H2BC17 Knockout HEK293 Cell Line | EDJ-KQ6202 | Human | 8348 | Details Get a Quote |
| H2BC17 Knockout HCT 116 Cell Line | EDJ-KQ30038 | Human | 8348 | Details Get a Quote |
| H2BC17 Knockout HeLa Cell Line | EDJ-KQ30039 | Human | 8348 | Details Get a Quote |
| H2BC17 Knockout A-549 Cell Line | EDJ-KQ28732 | Human | 8348 | Details Get a Quote |
