HOXB8 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 development. Increased expression of this gene is associated with colorectal cancer. Mice that have had the murine ortholog of this gene knocked out exhibit an excessive pathologic grooming behavior. This behavior is similar to the behavior of humans suffering from the obsessive-compulsive spectrum disorder trichotillomania. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | HOXB8 |
| Official Name | homeobox B8 [Source:HGNC Symbol;Acc:HGNC:5119] |
| Ensembl ID | ENSG00000120068 |
| Bio databases IDs | |
| Aliases | homeobox B8 |
| Synonyms | homeo box B8, HOX2, Hox-2.4, HOX2D, Hox2r1a |
| 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 HOXB8 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
- Pbx binding domain
- double-stranded DNA 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
- metastasis
- neoplasia
- Cornelia de Lange syndrome
- colorectal cancer
- small cell lung cancer
- dermatological disorder
role in cell
- expression in
- migration
- differentiation
- proliferation
- invasion by
- abnormal morphology
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
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HOXB8 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- grooming behavior
- negative regulation of myeloid cell differentiation
- dorsal spinal cord development
- anterior/posterior pattern specification
- sensory perception of pain
- adult locomotory behavior
- 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
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- RNA polymerase II regulatory 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