HOXD8 Gene Summary [Human]
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. In addition to effects during embryogenesis, this particular gene may also play a role in adult urogenital tract function. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]
Details
| Type | Protein Coding |
| Official Symbol | HOXD8 |
| Official Name | homeobox D8 [Source:HGNC Symbol;Acc:HGNC:5139] |
| Ensembl ID | ENSG00000175879 |
| Bio databases IDs | |
| Aliases | homeobox D8 |
| Synonyms | 4921540P06Rik, homeobox D8, HOX4, Hox-4.3, HOX4E, HOX5.4 |
| 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 HOXD8 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
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Cornelia de Lange syndrome
- low-grade glioma
- glioma formation
- glioblastoma
- glioblastoma cancer
role in cell
- expression in
- proliferation
- phosphorylation in
- activation in
- migration
- differentiation
- repression in
- invasion by
- transactivation in
- G1 phase
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
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HOXD8 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
- anterior/posterior axis specification, embryo
- positive regulation of transcription from RNA polymerase II promoter
- 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 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
- sequence-specific DNA binding RNA polymerase II transcription factor activity