HOXD13 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. Mutations in this particular gene cause synpolydactyly. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | HOXD13 |
| Official Name | homeobox D13 [Source:HGNC Symbol;Acc:HGNC:5136] |
| Ensembl ID | ENSG00000128714 |
| Bio databases IDs | |
| Aliases | homeobox D13, synpolydactyly |
| Synonyms | BDE, BDSD, homeo box D13, Hox-4.8, HOX4I, SPD, SPD1, spdh |
| 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 HOXD13 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
- DNA binding domain
- nucleic acid binding
- double-stranded DNA binding
- chromatin 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
- synpolydactyly
- agenesis
- glioblastoma
- glioblastoma cancer
- acute myeloid leukemia
- synpolydactyly 1
- brachydactyly-syndactly syndrome
- dystopia
- brachydactyly type D
- brachyphalangia
role in cell
- proliferation
- expression in
- migration
- 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 HOXD13 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- embryonic hindgut morphogenesis
- morphogenesis of an epithelial fold
- anterior/posterior pattern specification
- branch elongation of an epithelium
- regulation of transcription, DNA-dependent
- transcription from RNA polymerase II promoter
- prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis
- positive regulation of transcription from RNA polymerase II promoter
- regulation of branching involved in prostate gland morphogenesis
- regulation of cell proliferation
- regulation of transcription from RNA polymerase II promoter
- embryonic digit morphogenesis
- skeletal system development
- male genitalia development
- response to testosterone stimulus
Cellular Component
Where in the cell the gene product is active
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- sequence-specific DNA binding transcription factor activity
- 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