H2BC12L
protein-codingH2B clustered histone 12 like, the group of H2B histones
Gene summary
Predicted to enable DNA binding activity. Predicted to be a structural constituent of chromatin. Involved in antimicrobial humoral immune response mediated by antimicrobial peptide and innate immune response in mucosa. Located in nucleus and obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]
- H2BFS
- H2BS1
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~0.5 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to H2BC12L variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_017445.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 0 | 1 | 0 | 1 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_059141.1 | 1 | MANE Select | |
| Ensembl | ENSP00000481622.1 | 1 | MANE Select |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)
- B-WICH complex positively regulates rRNA expression
- ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
- Positive epigenetic regulation of rRNA expression
- SIRT1 negatively regulates rRNA expression
Biological Process
- innate immune response in mucosa
- nucleosome assembly
- antibacterial humoral response
- substantia nigra development
- defense response to Gram-positive bacterium
Molecular Function
- DNA binding
- protein heterodimerization activity
Cellular Component
- nucleosome
- extracellular space
- nucleus
- nucleoplasm
- cytosol
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.;