IRX5 Gene Summary [Human]
This gene encodes a member of the iroquois homeobox gene family, which are involved in several embryonic developmental processes. Knockout mice lacking this gene show that it is required for retinal cone bipolar cell differentiation, and that it negatively regulates potassium channel gene expression in the heart to ensure coordinated cardiac repolarization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
Details
| Type | Protein Coding |
| Official Symbol | IRX5 |
| Official Name | iroquois homeobox 5 [Source:HGNC Symbol;Acc:HGNC:14361] |
| Ensembl ID | ENSG00000176842 |
| Bio databases IDs | |
| Aliases | iroquois homeobox 5 |
| Synonyms | HMMS, Iroquois homeobox 5, IRX-2a, IRXB2 |
| 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 IRX5 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
- Motif in Iroquois-class homeodomain proteins (only)
- double-stranded DNA binding
- transcription factor binding
- protein binding
- sequence-specific DNA binding
- homeodomain
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- pancreatic adenocarcinoma
- glioblastoma
- glioblastoma cancer
- pancreatic epithelial cancer
- Hamamy syndrome
- papillary renal cell carcinoma
- papillary renal cell neoplasia
- renal cell cancer
- Richter syndrome
- Hutchinson-Gilford progeria syndrome
role in cell
- expression in
- proliferation
- differentiation
- development
- maturation
- generation
- expansion
- abnormal morphology
- damage 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
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human IRX5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- gonad development
- neuron differentiation
- embryonic cranial skeleton morphogenesis
- cell development
- visual perception
- 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
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- vitamin D binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity