KDM6B Gene Summary [Human]
The protein encoded by this gene is a lysine-specific demethylase that specifically demethylates di- or tri-methylated lysine 27 of histone H3 (H3K27me2 or H3K27me3). H3K27 trimethylation is a repressive epigenetic mark controlling chromatin organization and gene silencing. This protein can also demethylate non-histone proteins such as retinoblastoma protein. Through its demethylation actvity this gene influences cellular differentiation and development, tumorigenesis, inflammatory diseases, and neurodegenerative diseases. This protein has two classical nuclear localization signals at its N-terminus. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]
Details
| Type | Protein Coding |
| Official Symbol | KDM6B |
| Official Name | lysine demethylase 6B [Source:HGNC Symbol;Acc:HGNC:29012] |
| Ensembl ID | ENSG00000132510 |
| Bio databases IDs | |
| Aliases | lysine demethylase 6B |
| Synonyms | 1700064E03Rik, JMJD3, KDM1 lysine (K)-specific demethylase 6B, KIAA0346, lysine demethylase 6B, NEDCFSA, NEDSST |
| 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 KDM6B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- beta-catenin binding
- 2-oxoglutarate:oxygen oxidoreductase
- chromatin binding
- enzyme
- protein binding
- sequence-specific DNA binding
- histone demethylase activity
- RmlC-like cupin superfamily
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metastasis
- non-insulin-dependent diabetes mellitus
- Stolerman neurodevelopmental syndrome
- organismal death
- hereditary disorder
- chronic kidney disease
- hyperzincemia and hypercalprotectinemia autoinflammatory syndrome
- syndromic mental retardation
- acute pancreatitis
- thermal hyperalgesia
role in cell
- expression in
- apoptosis
- phosphorylation in
- proliferation
- binding in
- cellular infiltration by
- migration
- cell viability
- epithelial-mesenchymal transition
- quantity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- Nucleus
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KDM6B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to fungicide
- endothelial cell differentiation
- hippocampus development
- positive regulation of transcription from RNA polymerase II promoter
- heart development
- chromatin remodeling
- inflammatory response to antigenic stimulus
- mesodermal cell differentiation
- cell fate commitment
- regulation of gene expression
- response to activity
- cellular response to hydrogen peroxide
- cardiac muscle cell differentiation
Cellular Component
Where in the cell the gene product is active
- nucleus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- chromatin DNA binding
- protein binding
- metal ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- histone demethylase activity
- beta-catenin binding
- histone demethylase activity (H3-K27 specific)