NOVA2 Gene Summary [Human]
Enables sequence-specific mRNA binding activity. Involved in neuron differentiation and regulation of alternative mRNA splicing, via spliceosome. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | NOVA2 |
| Official Name | NOVA alternative splicing regulator 2 [Source:HGNC Symbol;Acc:HGNC:7887] |
| Ensembl ID | ENSG00000104967 |
| Bio databases IDs | |
| Aliases | NOVA alternative splicing regulator 2, neuro-oncological ventral antigen 3, astrocytic NOVA1-like |
| Synonyms | ANOVA, Gm1424, NEDASB, NOVA3, NOVA alternative splicing regulator 2 |
| 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 NOVA2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- K homology (KH) RNA-binding domain, type I
- KH domain
- mRNA binding
- spacer domain
- protein binding
- K homology RNA-binding domain
- RNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
- organismal death
- Alzheimer disease
- neurodevelopmental disorder with autistic features and structural brain abnormalities
- gastric cancer
- gastric adenocarcinoma
- gastric epithelial cancer
- neurodevelopmental disorder with autistic features without structural brain abnormalities
- epilepsy
- neurodevelopmental disorder without autistic features and with structural brain abnormalities
regulated by
role in cell
- apoptosis
- differentiation
- alternative splicing in
- alternative splicing by
- guidance
- development
- long-term potentiation
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
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NOVA2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of alternative nuclear mRNA splicing, via spliceosome
- neuron differentiation
- regulation of RNA metabolic process
- central nervous system neuron development
- nuclear mRNA splicing, via spliceosome
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
Molecular Function
What the gene product does at the molecular level
- RNA binding
- mRNA binding