JARID2 Gene Summary [Human]
This gene encodes a Jumonji- and AT-rich interaction domain (ARID)-domain-containing protein. The encoded protein is a DNA-binding protein that functions as a transcriptional repressor. This protein interacts with the Polycomb repressive complex 2 (PRC2) which plays an essential role in regulating gene expression during embryonic development. This protein facilitates the recruitment of the PRC2 complex to target genes. Alternate splicing results in multiple transcript variants. Mutations in this gene are associated with chronic myeloid malignancies. [provided by RefSeq, May 2012]
Details
| Type | Protein Coding |
| Official Symbol | JARID2 |
| Official Name | jumonji and AT-rich interaction domain containing 2 [Source:HGNC Symbol;Acc:HGNC:6196] |
| Ensembl ID | ENSG00000008083 |
| Bio databases IDs | |
| Aliases | jumonji and AT-rich interaction domain containing 2 |
| Synonyms | DIDDF, JMJ, jumonji, jumonji and AT-rich interaction domain containing 2 |
| 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 JARID2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- jmjN domain
- DNA binding domain
- protein binding activity, bridging
- transcription factor binding
- chromatin binding
- ubiquitin binding
- protein binding
- ARID/BRIGHT DNA binding domain
- RmlC-like cupin superfamily
- DNA binding
- C5HC2 zinc finger
- histone lysine N-methyltransferase activity (H3-K27 specific)
- transcription repression domain
- ARID/BRIGHT DNA binding domain family
Pathways
Biological processes and signaling networks where the JARID2 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
- colon cancer
- breast cancer
- dementia
- liver cancer
- cutaneous melanoma
- renal cancer
- non-insulin-dependent diabetes mellitus
- metastasis
- hereditary disorder
- adult T cell leukemia
role in cell
- invasion by
- expression in
- proliferation
- differentiation
- mitosis
- quantity
- self-renewal
- proliferation by
- sphere formation by
- trimethylation 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
- Mitochondria
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human JARID2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of cardiac muscle cell proliferation
- spleen development
- cardiac muscle cell proliferation
- thymus development
- negative regulation of transcription from RNA polymerase II promoter
- chromatin remodeling
- central nervous system development
- stem cell differentiation
- negative regulation of cardiac muscle hypertrophy
- random inactivation of X chromosome
- liver development
- regulation of gene expression
Cellular Component
Where in the cell the gene product is active
- nucleus
- histone methyltransferase complex
- mitochondrion
- ESC/E(Z) complex
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- ubiquitin binding
- histone demethylase activity
- chromatin binding
- histone methyltransferase activity (H3-K27 specific)