HOXD4 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 at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in determining positional values in developing limb buds. Alternatively spliced variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | HOXD4 |
| Official Name | homeobox D4 [Source:HGNC Symbol;Acc:HGNC:5138] |
| Ensembl ID | ENSG00000170166 |
| Bio databases IDs | |
| Aliases | homeobox D4 |
| Synonyms | 6030436D05RIK, HHO.C13, homeo box D4, HOX4, Hox-4.2, HOX4B, HOX-5.1 |
| 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 HOXD4 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
Pathways
Biological processes and signaling networks where the HOXD4 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
- glioblastoma
- glioblastoma cancer
- Cornelia de Lange syndrome
- low-grade glioma
- glioma formation
role in cell
- expression in
- differentiation
- expansion
- 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
- cell junction
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HOXD4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- stem cell differentiation
- anterior/posterior pattern specification
- embryonic organ development
- positive regulation of transcription from RNA polymerase II promoter
- embryonic skeletal system morphogenesis
Cellular Component
Where in the cell the gene product is active
- cell junction
- chromatin
- 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 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