PBX2 Gene Summary [Human]
This gene encodes a ubiquitously expressed member of the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is involved in t(1;19) translocation in acute pre-B-cell leukemias. This protein is a transcriptional activator which binds to the TLX1 promoter. The gene is located within the major histocompatibility complex (MHC) on chromosome 6. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PBX2 |
| Official Name | PBX homeobox 2 [Source:HGNC Symbol;Acc:HGNC:8633] |
| Ensembl ID | ENSG00000204304 |
| Bio databases IDs | |
| Aliases | PBX homeobox 2 |
| Synonyms | AU043397, G17, HOX12, PBX2MHC, PBX homeobox 2, pre B cell leukaemia homeobox 2, pre B cell leukemia homeobox 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 PBX2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- PBC domain
- nucleic acid binding
- double-stranded DNA binding
- chromatin binding
- transcription factor binding
- protein binding
- sequence-specific DNA binding
- homeodomain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- edema
- cleft lip
- schizophrenia
- congenital malformation
- bicuspid aortic valve
- micrognathia
- hypothyroidism
- asthma
- cleft palate
- generalized edema
role in cell
- immortalization
- transformation
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
- Cytoplasm
- chromatin
- plasma
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PBX2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- embryonic limb morphogenesis
- eye development
- embryonic organ development
- brain development
- neuron development
- positive regulation of transcription from RNA polymerase II promoter
- proximal/distal pattern formation
- regulation of transcription from RNA polymerase II promoter
- organ morphogenesis
Cellular Component
Where in the cell the gene product is active
- nucleus
- transcription factor complex
- chromatin
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- chromatin binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity