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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MACROH2A2
macroH2A.2 histone
Chromosome 10 · 10q22.1
NCBI Gene: 55506Ensembl: ENSG00000099284.15HGNC: HGNC:14453UniProt: Q9P0M6
96PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
dosage compensation by inactivation of X chromosometranscription cis-regulatory region bindingRNA polymerase II transcription regulatory region sequence-specific DNA bindingpositive regulation of keratinocyte differentiationenteritisplacenta praeviaAbruptio Placentaepericarditis
✦AI Summary

MACROH2A2 is a histone H2A variant encoded on chromosome 10 that replaces canonical H2A in specific nucleosomes to regulate chr10 structure and gene expression 1. As a hybrid protein with an N-terminal histone domain and large nonhistone region, MACROH2A2 concentrates in heterochromatic regions including the inactive X chr10, where it may contribute to dosage compensation 1. Mechanistically, MACROH2A2 is deposited into chr10 in an ATP-dependent manner by the LSH chr10 remodeler, where it enforces transcriptional repression by altering chr10 accessibility at enhancer elements 23. Unlike MACROH2A1, MACROH2A2 does not regulate replication origin firing on the inactive X chr10 4. Clinically, MACROH2A2 functions as a tumor suppressor. High expression associates with better prognosis in glioblastoma by antagonizing self-renewal programs and sensitizing cells to apoptosis 5. In metastatic cancer, MACROH2A2 enforces dormancy in disseminated cancer cells through inhibition of cell cycle and oncogenic signaling programs, thereby suppressing metastatic outgrowth 6. Loss of MACROH2A2 expression correlates with progression from anal intraepithelial neoplasia to squamous cell carcinoma and predicts earlier recurrence 7. These findings establish MACROH2A2 as a critical epigenetic regulator with substantial tumor-suppressive functions 8.

Sources cited
1
MACROH2A2 is a histone variant on chromosome 10 with hybrid structure; concentrates in inactive X chromosome
PMID: 11262398
2
MACROH2A2 antagonizes glioblastoma self-renewal and is associated with better prognosis in high-grade glioma
PMID: 37244935
3
MACROH2A2 enforces dormancy in disseminated cancer cells and suppresses metastasis via reversible growth arrest
PMID: 36459552
4
MACROH2A1, but not MACROH2A2, regulates replication origin firing on the inactive X chromosome
PMID: 39189450
5
LSH catalyzes ATP-dependent deposition of MACROH2A2 into nucleosomes
PMID: 34223906
6
LSH mediates MACROH2A2 deposition in an ATP-dependent manner to induce transcriptional repression
PMID: 33159050
7
Loss of MACROH2A2 expression associates with progression of anal neoplasm and predicts earlier recurrence
PMID: 26658220
8
MACROH2A2 inhibits proliferation and is associated with better cancer prognosis
PMID: 25003966
Disease Associationsⓘ20
enteritisOpen Targets
0.27Weak
placenta praeviaOpen Targets
0.24Weak
Abruptio PlacentaeOpen Targets
0.24Weak
pericarditisOpen Targets
0.17Weak
sialolithiasisOpen Targets
0.14Weak
placental retentionOpen Targets
0.09Suggestive
glioblastoma multiformeOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.05Suggestive
Congenital bile acid synthesis defect type 1Open Targets
0.05Suggestive
Hyperlipoproteinemia type 1Open Targets
0.04Suggestive
congenital bile acid synthesis defect 5Open Targets
0.04Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.04Suggestive
sideroblastic anemia 3Open Targets
0.04Suggestive
Ichthyosis - hepatosplenomegaly - cerebellar degenerationOpen Targets
0.04Suggestive
ichthyosis-hepatosplenomegaly-cerebellar degeneration syndromeOpen Targets
0.04Suggestive
familial apolipoprotein C-II deficiencyOpen Targets
0.04Suggestive
progressive familial intrahepatic cholestasisOpen Targets
0.04Suggestive
cholestasis, progressive familial intrahepatic, 7, with or without hearing lossOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
cholestasis, progressive familial intrahepatic, 12Open Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HDAC3Protein interaction94%HDAC1Protein interaction82%GDAP2Protein interaction80%HDAC2Protein interaction75%MACROD1Protein interaction73%APLFProtein interaction73%
Tissue Expression6 tissues
Brain
100%
Heart
56%
Ovary
41%
Liver
17%
Lung
13%
Bone Marrow
12%
Gene Interaction Network
Click a node to explore
MACROH2A2HDAC3HDAC1GDAP2HDAC2MACROD1APLF
PROTEIN STRUCTURE
Preparing viewer…
PDB6FY5 · 1.65 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.47Moderately Constrained
pLIⓘ
0.99Intolerant
Observed/Expected LoF0.23 [0.12–0.47]
RankingsWhere MACROH2A2 stands among ~20K protein-coding genes
  • #4,990of 20,598
    Most Researched96 · top quartile
  • #2,748of 17,882
    Most Constrained (LOEUF)0.47 · top quartile
Genes detectedMACROH2A2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
macroH2A2 antagonizes epigenetic programs of stemness in glioblastoma.
PMID: 37244935
Nat Commun · 2023
1.00
2
MacroH2A impedes metastatic growth by enforcing a discrete dormancy program in disseminated cancer cells.
PMID: 36459552
Sci Adv · 2022
0.90
3
Histone variant macroH2A1 regulates synchronous firing of replication origins in the inactive X chromosome.
PMID: 39189450
Nucleic Acids Res · 2024
0.80
4
LSH catalyzes ATP-driven exchange of histone variants macroH2A1 and macroH2A2.
PMID: 34223906
Nucleic Acids Res · 2021
0.70
5
MACROH2A2, a new member of the MARCOH2A core histone family.
PMID: 11262398
J Biol Chem · 2001
0.60