IRX2 Gene Summary [Human]
IRX2 is a member of the Iroquois homeobox gene family. Members of this family appear to play multiple roles during pattern formation of vertebrate embryos.[supplied by OMIM, Apr 2004]
Details
| Type | Protein Coding |
| Official Symbol | IRX2 |
| Official Name | iroquois homeobox 2 [Source:HGNC Symbol;Acc:HGNC:14359] |
| Ensembl ID | ENSG00000170561 |
| Bio databases IDs | |
| Aliases | iroquois homeobox 2 |
| Synonyms | Iroquois homeobox 2, IRXA2 |
| 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 IRX2 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
- Motif in Iroquois-class homeodomain proteins (only)
- protein binding
- sequence-specific DNA binding
- homeodomain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- neoplasia
- cardiac remodeling
- renal clear cell adenocarcinoma
- renal clear cell cancer
- osteosarcomagenesis
- androgenic alopecia
- heart disease
- Cornelia de Lange syndrome
- dilated cardiomyopathy
role in cell
- expression in
- cellular infiltration 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
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human IRX2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- specification of loop of Henle identity
- proximal/distal pattern formation involved in metanephric nephron development
- neuron differentiation
- cell development
- 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
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- 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