HOXB5 Gene Summary [Human]
This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in lung and gut development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML) and the occurrence of bronchopulmonary sequestration (BPS) and congenital cystic adenomatoid malformation (CCAM) tissue. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | HOXB5 |
| Official Name | homeobox B5 [Source:HGNC Symbol;Acc:HGNC:5116] |
| Ensembl ID | ENSG00000120075 |
| Bio databases IDs | |
| Aliases | homeobox B5 |
| Synonyms | HHO.C10, homeo box B5, HOX2, Hox-2.1, HOX2A, HU-1, RGD1562292 |
| 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 HOXB5 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
- nucleic acid binding
- double-stranded DNA binding
- protein binding
- sequence-specific DNA binding
- homeodomain
- transcription factor activity
- DNA binding
Pathways
Biological processes and signaling networks where the HOXB5 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
- endometriosis
- cardiovascular disorder
- hypoplasia
- ulcerative colitis
- Cornelia de Lange syndrome
role in cell
- expression in
- proliferation
- migration
- invasion by
- differentiation
- colony formation by
- expansion
- sprouting
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
- fibrillar center
- cytosol
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HOXB5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- anterior/posterior pattern specification
- endothelial cell differentiation
- anatomical structure morphogenesis
- positive regulation of transcription from RNA polymerase II promoter
- embryonic skeletal system morphogenesis
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytosol
- chromatin
- fibrillar center
- nucleoplasm
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 transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity