HOXA2 Gene Summary [Human]
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | HOXA2 |
| Official Name | homeobox A2 [Source:HGNC Symbol;Acc:HGNC:5103] |
| Ensembl ID | ENSG00000105996 |
| Bio databases IDs | |
| Aliases | homeobox A2 |
| Synonyms | homeobox A2, HOX1.11, HOX1K, Hoxa11, Hoxa2l, LOC100911443, MCOHI, NEWGENE 2813, RATHOX111A |
| 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 HOXA2 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 factor activity, sequence-specific DNA binding
- transcription regulator
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- nucleic acid binding
- double-stranded DNA binding
- sequence-specific DNA binding
- homeodomain
- transcription factor activity
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- microtia, hearing impairment, and cleft palate
- respiratory failure
- severe acute respiratory syndrome
- meteorism
- palatal shelves fail to meet at midline
- microtia
- preeclampsia
- aphagia
role in cell
- activation in
- differentiation
- response by
- development
- ubiquitination in
- polyubiquitination in
- stabilization in
- commitment
- degradation in
- fate determination
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
- intracellular membrane-bounded organelle
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HOXA2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- motor axon guidance
- rhombomere 3 morphogenesis
- brain segmentation
- anterior/posterior pattern specification
- negative regulation of neuron differentiation
- middle ear morphogenesis
- rhombomere 2 development
- osteoblast development
- positive regulation of transcription from RNA polymerase II promoter
- pharyngeal system development
- segment specification
- embryonic viscerocranium morphogenesis
- dorsal/ventral pattern formation
- negative regulation of osteoblast differentiation
- negative regulation of transcription from RNA polymerase II promoter
- cellular response to retinoic acid
- muscle structure development
- cell fate determination
Cellular Component
Where in the cell the gene product is active
- intracellular membrane-bounded organelle
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity