PHF21A Gene Summary [Human]
The PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron-specific genes through the cis-regulatory element known as repressor element-1 (RE1) or neural restrictive silencer (NRS) (Hakimi et al., 2002 [PubMed 12032298]).[supplied by OMIM, Nov 2010]
Details
| Type | Protein Coding |
| Official Symbol | PHF21A |
| Official Name | PHD finger protein 21A [Source:HGNC Symbol;Acc:HGNC:24156] |
| Ensembl ID | ENSG00000135365 |
| Bio databases IDs | |
| Aliases | PHD finger protein 21A |
| Synonyms | Bhc, BHC80, BHC80a, BM-006, D030065N23Rik, IDDBCS, mBHC80, NEDMS, PFTF1, PHD finger protein 21A, RGD1560612 |
| 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 PHF21A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PHD zinc finger
- protein kinase C conserved region 1 (C1 domain) superfamily
- RING finger (Really Interesting New Gene) domain and U-box domain superfamily
- PHD finger superfamily
- chromatin binding
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- abdominal cancer
- cancer
- mental retardation
- hereditary disorder
- schizophrenia
- intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism without seizures
- insomnia
- uterine cancer
- female genital tract cancer
- soft tissue sarcoma cancer
role in cell
- expression in
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
- nuclear fraction
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PHF21A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- chromatin organization
Cellular Component
Where in the cell the gene product is active
- histone deacetylase complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding
- metal ion binding
- chromatin binding