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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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H2AZ1
H2A.Z variant histone 1
Chromosome 4 · 4q23
NCBI Gene: 3015Ensembl: ENSG00000164032.13HGNC: HGNC:4741UniProt: P0C0S5
222PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleuseuchromatinRNA polymerase II core promoter sequence-specific DNA bindingextracellular exosomeAbnormality of the skeletal systemopen-angle glaucomarenal carcinomahepatocellular carcinoma
✦AI Summary

H2A.Z1 (H2A.Z variant histone 1) is a histone variant that replaces conventional H2A in nucleosomes, functioning as a central regulator of chr4 architecture and gene expression. As a structural chr4 component, H2A.Z1 associates with functional regulatory elements including promoters, enhancers, and insulators 1. Its C-terminal tail is critical for nucleosome stability and chr4 organization, with tail-dependent mechanisms influencing global chr4 accessibility and gene expression 2. H2A.Z1 plays distinct roles in DNA replication licensing and activation; nucleosomes containing H2A.Z1 facilitate origin-recognition complex binding and early replication origin firing through the SUV420H1-H4K20me2-ORC1 axis 3. In intestinal epithelium, H2A.Z1 antagonistically regulates differentiation with its isoform H2A.Z.2, preventing terminal enterocyte differentiation while supporting stem cell maintenance 4. Clinically, H2A.Z1 dysregulation associates with multiple pathologies: deficient H2A.Z deposition drives uterine leiomyoma tumorigenesis through epigenetic instability 5, while H2A.Z1 overexpression correlates with poor prognosis in hepatocellular carcinoma via enhanced tumor stemness 6. Germline H2AZ1 variants cause rare neurodevelopmental disorders 7.

Sources cited
1
H2A.Z associates with functional regulatory elements including promoters, enhancers, and insulators in the genome
PMID: 17512414
2
H2A.Z facilitates licensing and activation of early replication origins through H4K20me2 deposition and ORC1 binding
PMID: 31875854
3
Deficient H2A.Z deposition caused by SRCAP complex mutations drives uterine leiomyoma genesis through epigenetic instability
PMID: 34349258
4
H2AZ1 overexpression in hepatocellular carcinoma correlates with poor prognosis and elevated tumor stemness
PMID: 38305811
5
H2A.Z C-terminal tail modulates nucleosome stability and influences global chromatin architecture and gene expression
PMID: 39448645
6
H2A.Z.1 prevents terminal enterocyte differentiation while cooperating with H2A.Z.2 for stem cell proliferation
PMID: 39155414
7
Germline H2AZ1 variants cause rare neurodevelopmental histonopathies
PMID: 40241305
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.26Weak
open-angle glaucomaOpen Targets
0.16Weak
renal carcinomaOpen Targets
0.14Weak
hepatocellular carcinomaOpen Targets
0.11Weak
lung adenocarcinomaOpen Targets
0.08Suggestive
lung cancerOpen Targets
0.08Suggestive
cancerOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
Miyoshi myopathyOpen Targets
0.05Suggestive
liver cancerOpen Targets
0.05Suggestive
oral squamous cell carcinomaOpen Targets
0.05Suggestive
glioblastoma multiformeOpen Targets
0.04Suggestive
melanomaOpen Targets
0.04Suggestive
congenital enteropathy due to enteropeptidase deficiencyOpen Targets
0.03Suggestive
gastric mucosal hypertrophyOpen Targets
0.03Suggestive
intrahepatic cholangiocarcinomaOpen Targets
0.03Suggestive
schizophreniaOpen Targets
0.03Suggestive
Abnormal sperm morphologyOpen Targets
0.02Suggestive
iron metabolism diseaseOpen Targets
0.02Suggestive
posterior cortical atrophyOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SRCAPProtein interaction100%RUVBL1Protein interaction100%POLR2BProtein interaction100%POLR2LProtein interaction100%POLR2KProtein interaction100%POLR2DProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
55%
Lung
39%
Ovary
31%
Heart
18%
Liver
17%
Gene Interaction Network
Click a node to explore
H2AZ1SRCAPRUVBL1POLR2BPOLR2LPOLR2KPOLR2D
PROTEIN STRUCTURE
Preparing viewer…
PDB4CAY · 1.48 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.40Moderately Constrained
pLIⓘ
0.95Intolerant
Observed/Expected LoF0.00 [0.00–0.40]
RankingsWhere H2AZ1 stands among ~20K protein-coding genes
  • #1,842of 20,598
    Most Researched222 · top 10%
  • #2,008of 17,882
    Most Constrained (LOEUF)0.40 · top quartile
Genes detectedH2AZ1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
High-resolution profiling of histone methylations in the human genome.
PMID: 17512414
Cell · 2007
1.00
2
H2A.Z facilitates licensing and activation of early replication origins.
PMID: 31875854
Nature · 2020
0.90
3
Deficient H2A.Z deposition is associated with genesis of uterine leiomyoma.
PMID: 34349258
Nature · 2021
0.80
4
Histone variant H2AZ1 drives lung cancer progression through the RELA-HIF1A-EGFR signaling pathway.
PMID: 39327549
Cell Commun Signal · 2024
0.76
5
Identification and validation of an H2AZ1-based index model: a novel prognostic tool for hepatocellular carcinoma.
PMID: 38305811
Aging (Albany NY) · 2024
0.70