MACROH2A2 Gene Summary [Human]
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and may participate in stable X chromosome inactivation. [provided by RefSeq, Oct 2015]
Details
| Type | Retained Intron |
| Official Symbol | MACROH2A2 |
| Official Name | macroH2A.2 histone [Source:HGNC Symbol;Acc:HGNC:14453] |
| Ensembl ID | ENSG00000099284 |
| Bio databases IDs | |
| Aliases | macroH2A.2 histone |
| Synonyms | H2AFY2, H2AW, Histone macroH2A2, macroH2A.2 histone, RGD1561371 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MACROH2A2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- macro domain
- histone fold domain (HFD) superfamily
- double-stranded DNA binding
- C-terminus of histone H2A
- nucleic acid binding
- macrodomain superfamily
- chromatin binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- Histone 2A
Pathways
Biological processes and signaling networks where the MACROH2A2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- blepharitis
- small cell lung cancer
- pervasive developmental disorder
- growth failure
regulates
- DNA endogenous promoter
- DNA promoter
- RNA polymerase II
role in cell
- differentiation
- maturation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
- Barr body
- chromatin
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MACROH2A2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of keratinocyte differentiation
- negative regulation of transcription from RNA polymerase II promoter
- negative regulation of gene expression, epigenetic
- dosage compensation
- heterochromatin assembly
- establishment of protein localization to chromatin
- brain development
- nucleosome assembly
Cellular Component
Where in the cell the gene product is active
- Barr body
- chromosome, telomeric region
- nucleus
- extracellular vesicular exosome
- nucleosome
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- chromatin DNA binding
- structural constituent of chromatin
- protein binding
- protein heterodimerization activity
- nucleosomal DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding