NKX2-8 Gene Summary [Human]
The protein encoded by this gene is a homeobox-containing developmental regulator associated with liver development. The encoded protein binds to the alpha-fetoprotein (AFP) gene promoter and increases the expression of AFP. This gene is overexpressed in some lung cancers and is linked to poor patient survival, possibly due to its resistance to cisplatin. This gene is aberrantly methylated in pancreatic cancer, deleted in squamous cell lung carcinomas, and acts as a tumor suppressor in esophageal cancer. Mutations in this gene may also be a cause of neural tube defects. [provided by RefSeq, Dec 2015]
Details
| Type | Protein Coding |
| Official Symbol | NKX2-8 |
| Official Name | NK2 homeobox 8 [Source:HGNC Symbol;Acc:HGNC:16364] |
| Ensembl ID | ENSG00000136327 |
| Bio databases IDs | |
| Aliases | NK2 homeobox 8 |
| Synonyms | NK2 homeobox 8, NK2 homeobox 9, NKX2.8, Nkx-2.9, Nkx2-9, NKX2H, tinman |
| 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 NKX2-8 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
- sequence-specific DNA binding
- homeodomain
- transcription factor activity
- TN domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- pancreatic cancer
- ductal breast carcinoma
- ductal breast cancer
- hyperplasia
- EGFR mutation positive adenocarcinoma of the lung
- EGFR mutation positive non-small cell lung cancer
- lung adenocarcinoma formation
- EGFR expression positive non-squamous non-small cell lung cancer
role in cell
- quantity
- proliferation
- growth
- development
- tumorigenicity
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 NKX2-8 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- epithelial cell proliferation
- transcription, DNA-dependent
- axonogenesis
- liver development
- negative regulation of epithelial cell proliferation
- cell differentiation
- transcription from RNA polymerase II promoter
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
- lung development
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- double-stranded DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity