HOXB6 Gene Summary [Human]
This gene is a member of the Antp homeobox family and encodes a 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 development, including that of lung and skin, and has been localized to both the nucleus and cytoplasm. Altered expression of this gene or a change in the subcellular localization of its protein is associated with some cases of acute myeloid leukemia and colorectal cancer. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | HOXB6 |
| Official Name | homeobox B6 [Source:HGNC Symbol;Acc:HGNC:5117] |
| Ensembl ID | ENSG00000108511 |
| Bio databases IDs | |
| Aliases | homeobox B6 |
| Synonyms | homeo box B6, HOX2, Hox-2.2, HOX2B, HU-2, RGD1562142 |
| 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 HOXB6 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
- Pbx binding domain
- DNA binding domain
- double-stranded DNA binding
- protein binding
- glutamic acid-rich domain
- sequence-specific DNA binding
- homeodomain
- phosphorylation site
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- benign neoplasia
- endometriosis
- survival
- squamous-cell carcinoma
- squamous cell cancer
- pancreatic cancer
- metabolic syndrome X
- colorectal cancer
- psoriasis
- dermatofibroma
regulates
- gamma globin
- reporter gene
- hemoglobin alpha
- CREBBP
role in cell
- homeostasis
- quantity
- immortalization
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
- Cytoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HOXB6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- erythrocyte homeostasis
- anterior/posterior pattern specification
- embryonic skeletal system morphogenesis
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity