NMNAT2 Gene Summary [Human]
This gene product belongs to the nicotinamide mononucleotide adenylyltransferase (NMNAT) enzyme family, members of which catalyze an essential step in NAD (NADP) biosynthetic pathway. Unlike the other human family member, which is localized to the nucleus, and is ubiquitously expressed; this enzyme is cytoplasmic, and is predominantly expressed in the brain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | NMNAT2 |
| Official Name | nicotinamide nucleotide adenylyltransferase 2 [Source:HGNC Symbol;Acc:HGNC:16789] |
| Ensembl ID | ENSG00000157064 |
| Bio databases IDs | |
| Aliases | nicotinamide nucleotide adenylyltransferase 2 |
| Synonyms | AI843915, C1orf15, D030041I09RIK, nicotinamide nucleotide adenylyltransferase 2, PNAT1, PNAT2 |
| 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 NMNAT2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- nicotinate-nucleotide adenylyltransferase
- nicotinate (nicotinamide) nucleotide adenylyltransferase
- cytidyltransferase-like domain
- protein binding activity, bridging
- enzyme
- nicotinamide-nucleotide adenylyltransferase
- nucleotidyl transferase superfamily
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- ovarian cancer
- systemic lupus erythematosus
- insulin-dependent diabetes mellitus
- neurodegeneration
- hereditary disorder
- spontaneous preterm birth
regulates
- agar
- NAD+
- COX20
- ribosomal protein
role in cell
- cell death
- growth
- development
- aggregation in
- polysome loading in
- mono-ADP-ribosylation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- extranuclear space
- cellular membrane
- Golgi Apparatus
- cytosol
- synaptic membrane
- Golgi membrane
- trans Golgi network
- synaptic vesicles
- synapse
- late endosomes
- transport vesicles
- cytoplasmic vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NMNAT2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- nucleotide biosynthetic process
- NAD biosynthetic process
- negative regulation of cytoplasmic translation
Cellular Component
Where in the cell the gene product is active
- cytoplasmic vesicle membrane
- trans-Golgi network
- late endosome
- cytosol
- Golgi membrane
- Golgi apparatus
- synapse
- axon
Molecular Function
What the gene product does at the molecular level
- ATP binding
- nicotinate-nucleotide adenylyltransferase activity
- nicotinamide-nucleotide adenylyltransferase activity