HOXD10 Gene Summary [Human]
This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcription factor that is expressed in the developing limb buds and is involved in differentiation and limb development. Mutations in this gene have been associated with Wilm's tumor and congenital vertical talus (also known as "rocker-bottom foot" deformity or congenital convex pes valgus) and/or a foot deformity resembling that seen in Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]
Details
| Type | Processed Transcript |
| Official Symbol | HOXD10 |
| Official Name | homeobox D10 [Source:HGNC Symbol;Acc:HGNC:5133] |
| Ensembl ID | ENSG00000128710 |
| Bio databases IDs | |
| Aliases | homeobox D10 |
| Synonyms | Homeobox D10, HOX4, Hox-4.4, Hox-4.5, HOX4D, HOX4E, Hox-5.3 |
| 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 HOXD10 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
- chromatin binding
- protein binding
- 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
- colorectal cancer
- gait disturbance
- glioblastoma cancer
- Cornelia de Lange syndrome
- preeclampsia
- small cell lung cancer
- congenital vertical talus
- migraines
- ductal breast carcinoma
- ductal breast cancer
role in cell
- expression in
- proliferation
- differentiation
- polarization
- migration
- development
- G1 phase
- invasion
- angiogenesis by
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
- nuclear fraction
- cytoplasmic ribonucleoprotein granule
- cytosol
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HOXD10 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neuromuscular process
- negative regulation of cell cycle
- anterior/posterior pattern specification
- adult locomotory behavior
- positive regulation of transcription from RNA polymerase II promoter
- single fertilization
- embryonic skeletal system morphogenesis
- spinal cord motor neuron cell fate specification
- proximal/distal pattern formation
- peripheral nervous system neuron development
- regulation of transcription from RNA polymerase II promoter
- embryonic limb morphogenesis
- skeletal muscle tissue development
- forelimb morphogenesis
- hindlimb morphogenesis
Cellular Component
Where in the cell the gene product is active
- nucleus
- transcriptional repressor complex
- cytosol
- 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 transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- chromatin binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity