NKX3-2 Gene Summary [Human]
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in cell differentiation; negative regulation of chondrocyte differentiation; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including animal organ development; embryonic skeletal system development; and intestinal epithelial cell development. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | NKX3-2 |
| Official Name | NK3 homeobox 2 [Source:HGNC Symbol;Acc:HGNC:951] |
| Ensembl ID | ENSG00000109705 |
| Bio databases IDs | |
| Aliases | NK3 homeobox 2 |
| Synonyms | BAPX1, NK3 homeobox 2, NKX3.2, NKX3B, SMMD |
| 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 NKX3-2 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
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- nucleic acid binding
- double-stranded DNA binding
- protein binding
- sequence-specific DNA binding
- homeodomain
Pathways
Biological processes and signaling networks where the NKX3-2 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
- hepatocellular carcinoma
- liver cancer
- epithelial cancer
- hypoplasia
- spondylo-megaepiphyseal-metaphyseal dysplasia
- organismal death
- connective tissue disorder
- dysplasia
role in cell
- activation in
- apoptosis
- differentiation
- development
- hypertrophy
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 NKX3-2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- middle ear morphogenesis
- transcription from RNA polymerase II promoter
- spleen development
- organ formation
- intestinal epithelial cell development
- embryonic skeletal system development
- skeletal system morphogenesis
- determination of left/right symmetry
- regulation of transcription from RNA polymerase II promoter
- negative regulation of transcription from RNA polymerase II promoter
- skeletal system development
- negative regulation of apoptotic process
- cell differentiation
- negative regulation of chondrocyte differentiation
- pancreas 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
- protein binding
- 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