NKX2-5 Gene Summary [Human]
This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | NKX2-5 |
| Official Name | NK2 homeobox 5 [Source:HGNC Symbol;Acc:HGNC:2488] |
| Ensembl ID | ENSG00000183072 |
| Bio databases IDs | |
| Aliases | NK2 homeobox 5, tinman (Drosophila) homolog |
| Synonyms | CHNG5, CSX, CSX1, HLHS2, NK2 homeobox 5, NKX2.5, NKX2E, NKX4-1, tinman, VSD3 |
| 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 NKX2-5 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
- transcription regulator
- DNA binding domain
- nucleic acid binding
- transcription factor binding
- histone deacetylase binding
- chromatin binding
- protein binding
- sequence-specific DNA binding
- identical protein binding
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- protein homodimerization
- homeodomain
- transcription factor activity
Pathways
Biological processes and signaling networks where the NKX2-5 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- heart failure
- stenosis
- atrial septal defect type 7
- edema
- hereditary disorder
- congenital heart disease
- psoriasis
- hypoplasia
- atrial septal defect 7 with atrioventricular conduction defects
- dilated cardiomyopathy
role in cell
- expression in
- quantity
- apoptosis
- morphology
- differentiation
- activation in
- proliferation
- development
- proliferation by
- cardiomyogenesis
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
- Cytoplasm
- cytosol
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NKX2-5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of cardiac muscle cell proliferation
- transcription from RNA polymerase II promoter
- cardiac muscle contraction
- cardiac ventricle formation
- atrioventricular node cell fate commitment
- heart morphogenesis
- epithelial cell proliferation
- negative regulation of transcription, DNA-dependent
- positive regulation of transcription, DNA-dependent
- atrioventricular node cell development
- heart looping
- ventricular cardiac myofibril development
- positive regulation of epithelial cell proliferation
- cardiac muscle tissue morphogenesis
- aortic valve morphogenesis
- pharyngeal system development
- proepicardium development
- right ventricular cardiac muscle tissue morphogenesis
- cardiac muscle cell proliferation
- ventricular trabecula myocardium morphogenesis
- epithelial cell differentiation
- positive regulation of cardioblast differentiation
- positive regulation of gene expression
- cardiac muscle cell development
- atrial cardiac muscle cell development
- ventricular cardiac muscle cell development
- negative regulation of cardiac muscle cell apoptotic process
- positive regulation of transcription initiation from RNA polymerase II promoter
- hemopoiesis
- positive regulation of cell proliferation
- positive regulation of neuron differentiation
- spleen development
- pulmonary myocardium development
- vasculogenesis
- positive regulation of heart contraction
- positive regulation of transcription from RNA polymerase II promoter
- apoptotic process involved in heart morphogenesis
- heart trabecula formation
- adult heart development
- outflow tract septum morphogenesis
- negative regulation of transcription from RNA polymerase II promoter
- heart development
- atrial cardiac muscle tissue development
- negative regulation of myotube differentiation
- embryonic heart tube left/right pattern formation
- cardiac conduction system development
- atrioventricular node development
- regulation of transcription, DNA-dependent
- septum secundum development
- embryonic heart tube development
- cardiac septum morphogenesis
- bundle of His development
- ventricular septum morphogenesis
- cardiac Purkinje fiber cell differentiation
- atrial septum morphogenesis
- regulation of transcription from RNA polymerase II promoter
- negative regulation of canonical Wnt receptor signaling pathway
- thyroid gland development
- negative regulation of apoptotic process
- positive regulation of sodium ion transport
- cell differentiation
- regulation of cardiac muscle contraction
Cellular Component
Where in the cell the gene product is active
- nucleus
- transcription factor complex
- cytoplasm
- protein-DNA complex
- macromolecular complex
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- sequence-specific DNA binding transcription factor activity
- protein homodimerization activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- 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 bacterial-type RNA polymerase transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity