MACROH2A2 Gene
MacroH2A.2 Histone Variant
Gene Information Card
| Symbol | MACROH2A2 |
|---|---|
| Full Name | macroH2A.2 histone variant |
| Gene Type | protein-coding |
| Chromosomal Location | 10q22.1 |
| NCBI Gene ID | 10476 ncbi.nlm.nih.gov/gene/10476 |
| Ensembl ID | ENSG00000120053 |
| UniProt ID | Q9P0M6 |
| OMIM ID | 613401 |
| HGNC ID | 4745 |
| Aliases | H2AFY2, macroH2A2, mH2A2 |
Description
MACROH2A2 encodes a member of the macroH2A histone family. This protein is a variant of histone H2A that contains a large non-histone macro domain. MacroH2A2 is enriched on the inactive X chromosome in female mammals and plays a role in transcriptional repression, chromatin compaction, and epigenetic regulation. It is involved in cellular processes such as senescence, DNA repair, and tumor suppression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Altered expression of MACROH2A2 affects chromatin structure and gene silencing, contributing to tumor progression. | COSMIC, ClinVar |
| Colorectal Cancer | Loss of MACROH2A2 expression is associated with poor prognosis and increased metastasis. | COSMIC, PubMed |
| Lung Cancer | Downregulation of MACROH2A2 promotes epithelial-mesenchymal transition (EMT) and invasion. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Spleen | 8.2 | Medium |
| Lung | 6.1 | Low |
| Breast | 5.3 | Low |
| Colon | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| A549 | 7.3 | Lung cancer cell line |
| MCF7 | 6.8 | Breast cancer cell line |
| HCT116 | 5.9 | Colorectal cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.214C>T (p.Arg72Cys) | Missense | <0.01% | Unknown functional effect |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in MACROH2A2 are rare but may impair chromatin silencing and contribute to tumorigenesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been reported.
View complete mutation data：
Gene Ontology (GO)
| • nucleosome (GO:0000786) | • DNA binding (GO:0003677) |
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • nucleosome assembly (GO:0006334) | • chromatin silencing (GO:0006342) |
| • negative regulation of gene expression (GO:0045814) |
Pathways
• Chromatin organization
• Epigenetic regulation of gene expression
• X chromosome inactivation
Protein Summary
MacroH2A2 is a histone variant that replaces conventional H2A in nucleosomes. It contains a conserved histone-fold domain and a large C-terminal macro domain that binds NAD+ metabolites. MacroH2A2 is enriched on the inactive X chromosome and at silenced genomic regions. It promotes chromatin compaction, represses transcription, and is involved in cellular senescence and tumor suppression. The protein is encoded by the MACROH2A2 gene located on chromosome 10q22.1.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MACROH2A2 Knockout HEK293 Cell Line | EDJ-KQ962 | Human | 55506 | Details Get a Quote |
| MACROH2A2 Knockout A-549 Cell Line | EDJ-KQ19959 | Human | 55506 | Details Get a Quote |
| MACROH2A2 Knockout HCT 116 Cell Line | EDJ-KQ19960 | Human | 55506 | Details Get a Quote |
| MACROH2A2 Knockout HeLa Cell Line | EDJ-KQ56590 | Human | 55506 | Details Get a Quote |
