HMGB3 Gene Summary [Human]
This gene encodes a member of a family of proteins containing one or more high mobility group DNA-binding motifs. The encoded protein plays an important role in maintaining stem cell populations, and may be aberrantly expressed in tumor cells. A mutation in this gene was associated with microphthalmia, syndromic 13. There are numerous pseudogenes of this gene on multiple chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Details
| Type | Protein Coding |
| Official Symbol | HMGB3 |
| Official Name | high mobility group box 3 [Source:HGNC Symbol;Acc:HGNC:5004] |
| Ensembl ID | ENSG00000029993 |
| Bio databases IDs | |
| Aliases | high mobility group box 3, non-histone chromosomal protein |
| Synonyms | high mobility group box 3, HMG-2a, HMG-4, MCOPS13, RGD1564407 |
| 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 HMGB3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- double-stranded DNA binding
- high mobility group (HMG)-box domain superfamily
- HMG (high mobility group) box
- HMG-box domain
- DNA secondary structure binding
- high mobility group
- DNA bending protein
- protein binding
- DNA binding
- RNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- breast cancer
- lung adenocarcinoma
- non-small cell lung cancer
- syndromic microphthalmia type 13
- HER2 negative hormone receptor negative breast cancer
- small cell lung cancer
- lung adenocarcinoma formation
- primary myelofibrosis
role in cell
- phosphorylation in
- proliferation
- expression in
- migration
- invasion by
- differentiation
- number
- abnormal morphology
- sphere formation by
- downregulation 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
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HMGB3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA geometric change
- innate immune response
- DNA recombination
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- chromosome
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA binding
- double-stranded DNA binding
- DNA binding, bending
- four-way junction DNA binding