H1-2
H1.2 Linker Histone, Cluster Member
Gene Information Card
| Symbol | H1-2 |
|---|---|
| Full Name | H1.2 linker histone, cluster member |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.2 |
| NCBI Gene ID | 3006 ncbi.nlm.nih.gov/gene/3006 |
| Ensembl ID | ENSG00000187837 |
| UniProt ID | P16403 |
| OMIM ID | 142711 |
| HGNC ID | 4715 |
| Aliases | HIST1H1C, H1.2, H1F2 |
Description
H1-2 (H1.2 linker histone, cluster member) is a protein-coding gene located on chromosome 6p22.2. It encodes histone H1.2, a member of the linker histone H1 family that binds to the linker DNA between nucleosomes, facilitating higher-order chromatin structure and regulating gene expression. H1.2 is involved in DNA condensation, transcriptional regulation, and cellular processes such as apoptosis and DNA repair. Mutations and altered expression of H1-2 have been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered H1.2 expression affects chromatin compaction and gene expression, promoting oncogenesis. | COSMIC, PubMed |
| Developmental disorders | Mutations in H1-2 may disrupt chromatin organization during development. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Lymph node | 38.1 | High |
| Bone marrow | 35.6 | High |
| Spleen | 32.8 | High |
| Brain | 12.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 48.3 | Leukemia cell line |
| HeLa | 42.1 | Cervical cancer cell line |
| HepG2 | 39.7 | Liver cancer cell line |
| A549 | 36.4 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Cys) | Missense | <0.1% | Altered DNA binding affinity |
| c.456G>A (p.Trp152*) | Nonsense | <0.01% | Loss of function, truncated protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to truncated H1.2 protein, reducing chromatin compaction.
Gain of Function (GOF)
Not well documented; missense mutations may alter DNA binding but not clearly gain-of-function.
Dominant Negative (DN)
Not reported for H1-2.
View complete mutation data：
Gene Ontology (GO)
| • chromatin organization | • nucleosome assembly |
| • DNA binding | • chromatin binding |
| • negative regulation of transcription |
Pathways
• Chromatin organization
• Apoptosis
• DNA damage response
Protein Summary
Histone H1.2 is a 213-amino acid linker histone protein that binds to the linker DNA between nucleosomes, stabilizing higher-order chromatin structure. It contains a central globular domain that interacts with DNA and nucleosomes, and N- and C-terminal tails that mediate chromatin compaction. H1.2 is ubiquitously expressed but enriched in testis and lymphoid tissues. It plays roles in transcription regulation, apoptosis, and DNA repair. Post-translational modifications, such as phosphorylation, modulate its function.
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