HOXD9 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 exact role of this gene has not been determined. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | HOXD9 |
| Official Name | homeobox D9 [Source:HGNC Symbol;Acc:HGNC:5140] |
| Ensembl ID | ENSG00000128709 |
| Bio databases IDs | |
| Aliases | homeobox D9 |
| Synonyms | homeo box D9, HOX4, Hox-4.3, Hox-4.4, HOX4C, Hox-5.2, LOC682957, RGD1561879 |
| 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 HOXD9 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
- nucleic acid binding
- double-stranded DNA binding
- alpha helix
- sequence-specific DNA binding
- homeodomain
- transcription factor activity
- DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- preeclampsia
- neoplasia
- metastasis
- anaplastic thyroid cancer
- anaplastic thyroid carcinoma
- epithelial thyroid cancer
- androgenic alopecia
- hypoplasia
- glioblastoma
- glioblastoma cancer
role in cell
- expression in
- apoptosis
- proliferation
- migration
- G1 phase
- differentiation
- development
- epithelial-mesenchymal transition
- invasion by
- transactivation in
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
- nucleoli
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HOXD9 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transcription, DNA-dependent
- anterior/posterior pattern specification
- adult locomotory behavior
- positive regulation of transcription from RNA polymerase II promoter
- single fertilization
- peripheral nervous system neuron development
- proximal/distal pattern formation
- embryonic skeletal system morphogenesis
- regulation of transcription from RNA polymerase II promoter
- negative regulation of transcription from RNA polymerase II promoter
- mammary gland development
- skeletal muscle tissue development
- embryonic forelimb morphogenesis
- hindlimb morphogenesis
Cellular Component
Where in the cell the gene product is active
- nucleus
- nucleolus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- 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 negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity