HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HIRA
histone cell cycle regulator
Chromosome 22 · 22q11.21
NCBI Gene: 7290Ensembl: ENSG00000100084.15HGNC: HGNC:4916UniProt: P54198
109PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
histone bindingnucleoplasmtranscription elongation-coupled chromatin remodelingRNA polymerase II-specific DNA-binding transcription factor bindingneurodegenerative diseaseNeurodevelopmental disorderFanconi anemiaprostate cancer
✦AI Summary

HIRA is a histone H3.3 chaperone that functions as a critical regulator of chr22 assembly and gene expression throughout the cell cycle. Primary function: HIRA cooperates with ASF1A to promote replication-independent chr22 assembly and maintains nucleosome structure by depositing the histone variant H3.3 independently of DNA replication 1. Mechanism: HIRA localizes to PML nuclear bodies and regulates H3.3 incorporation at active chr22 regions and gene regulatory elements. Upon senescence, HIRA promotes senescence-associated heterochromatin foci formation and coordinates with PML and p62/SQSTM1 to regulate the inflammatory senescence-associated secretory phenotype through the cGAS-STING pathway 2. Additionally, HIRA deposits H3.3 to prevent R-loop accumulation and transcription-replication conflicts at telomeres in ALT cancer cells 3. Disease relevance: HIRA mutations cause serious developmental defects across eukaryotes 4. During DNA virus infections, HIRA modulates chr22 accessibility affecting viral replication and host immune responses 5. In cancer, dysregulation of HIRA splicing by SRSF6 disrupts H3.3 dynamics and oncogenic pathways in prostate cancer 6. Clinical significance: HIRA represents a therapeutic target in viral infections, senescence-related aging, and cancers driven by chr22 remodeling complex alterations.

Sources cited
1
HIRA is a histone H3.3-specific chaperone that deposits H3.3 replication-independently throughout the cell cycle to control chromatin dynamics
PMID: 38297159
2
HIRA localizes to PML nuclear bodies and coordinates with PML and p62 to regulate senescence-associated inflammatory response through the cGAS-STING pathway
PMID: 39178863
3
HIRA-mediated H3.3 deposition maintains telomeric chromatin accessibility and prevents R-loop accumulation in ALT cancer cells
PMID: 39509271
4
HIRA mutations result in serious developmental defects and HIRA is essential for proper development across species
PMID: 16378951
5
HIRA is a histone chaperone essential for chromatin assembly and modulates chromatin structure during DNA virus infection affecting viral replication
PMID: 40120981
6
SRSF6-mediated regulation of HIRA splicing affects H3.3 dynamics and disrupts oncogenic pathways in prostate cancer
PMID: 39356765
7
HIRA accumulates in PML nuclear bodies upon interferon stimulation and participates in H3.3 deposition at interferon-stimulated genes
PMID: 37227756
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.35Weak
Neurodevelopmental disorderOpen Targets
0.22Weak
Fanconi anemiaOpen Targets
0.12Weak
prostate cancerOpen Targets
0.11Weak
Familial prostate cancerOpen Targets
0.11Weak
infectionOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.04Suggestive
HemihypertrophyOpen Targets
0.04Suggestive
isolated hemihyperplasiaOpen Targets
0.04Suggestive
pachyonychia congenitaOpen Targets
0.04Suggestive
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10Open Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
viral diseaseOpen Targets
0.03Suggestive
pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9Open Targets
0.03Suggestive
neural tube defects, folate-sensitiveOpen Targets
0.03Suggestive
spina bifidaOpen Targets
0.03Suggestive
frontal encephaloceleOpen Targets
0.03Suggestive
tropical spastic paraparesisOpen Targets
0.03Suggestive
dysraphism-cleft lip/palate-limb reduction defects syndromeOpen Targets
0.03Suggestive
Medeira-Dennis-Donnai syndromeOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
H3-3BProtein interaction100%H4C6Protein interaction100%H3C1Protein interaction99%H3C3Protein interaction99%H3C6Protein interaction98%H3-3AProtein interaction96%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
89%
Lung
51%
Brain
49%
Ovary
47%
Heart
32%
Gene Interaction Network
Click a node to explore
HIRAH3-3BH4C6H3C1H3C3H3C6H3-3A
PROTEIN STRUCTURE
Preparing viewer…
PDB5YJE · 2.45 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.18Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.11 [0.07–0.18]
RankingsWhere HIRA stands among ~20K protein-coding genes
  • #4,358of 20,598
    Most Researched109 · top quartile
  • #323of 17,882
    Most Constrained (LOEUF)0.18 · top 5%
Genes detectedHIRA
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Daxx and HIRA go viral - How chromatin remodeling complexes affect DNA virus infection.
PMID: 40120981
Tumour Virus Res · 2025
1.00
2
[Hira gene and development: from yeast to human].
PMID: 16378951
Yi Chuan · 2005
0.90
3
Histone chaperone HIRA, promyelocytic leukemia protein, and p62/SQSTM1 coordinate to regulate inflammation during cell senescence.
PMID: 39178863
Mol Cell · 2024
0.80
4
Protein UFMylation regulates early events during ribosomal DNA-damage response.
PMID: 39277864
Cell Rep · 2024
0.70
5
HIRA protects telomeres against R-loop-induced instability in ALT cancer cells.
PMID: 39509271
Cell Rep · 2024
0.60