NKX6-2 Gene Summary [Human]
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in cell differentiation; regulation of myelination; and regulation of transcription, DNA-templated. Predicted to act upstream of or within several processes, including negative regulation of transcription by RNA polymerase II; neurogenesis; and neuromuscular process controlling balance. Predicted to be part of chromatin. Predicted to be active in nucleus. Implicated in spastic ataxia 8. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Processed Transcript |
| Official Symbol | NKX6-2 |
| Official Name | NK6 homeobox 2 [Source:HGNC Symbol;Acc:HGNC:19321] |
| Ensembl ID | ENSG00000148826 |
| Bio databases IDs | |
| Aliases | NK6 homeobox 2 |
| Synonyms | GTX, NK6 homeobox 2, NKX6.2, NKX6B, SPAX8 |
| 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 NKX6-2 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
- double-stranded DNA binding
- sequence-specific DNA binding
- transcription factor activity
- homeodomain
- DNA binding
Pathways
Biological processes and signaling networks where the NKX6-2 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
- spastic ataxia 8 with hypomyelinating leukodystrophy
regulates
- DNA promoter
- DNA endogenous promoter
- RNA polymerase II
- GCG
- sodium channel
role in cell
- differentiation
- cell death
- commitment
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 NKX6-2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of transcription, DNA-dependent
- pancreatic A cell differentiation
- negative regulation of oligodendrocyte differentiation
- positive regulation of oligodendrocyte differentiation
- regulation of transcription from RNA polymerase II promoter
- negative regulation of transcription from RNA polymerase II promoter
- central nervous system myelination
- negative regulation of transcription, DNA-dependent
- neuron fate commitment
- cell differentiation
- regulation of myelination
- neuromuscular process controlling balance
- positive regulation of cell fate commitment
- negative regulation of cell fate commitment
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
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 negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity