NADK2 Gene Summary [Human]
This gene encodes a mitochondrial kinase that catalyzes the phosphorylation of NAD to yield NADP. Mutations in this gene result in 2,4-dienoyl-CoA reductase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Details
| Type | Protein Coding |
| Official Symbol | NADK2 |
| Official Name | NAD kinase 2, mitochondrial [Source:HGNC Symbol;Acc:HGNC:26404] |
| Ensembl ID | ENSG00000152620 |
| Bio databases IDs | |
| Aliases | NAD kinase 2, mitochondrial, mitochondrial NAD kinase |
| Synonyms | C5orf33, DECRD, MNADK, NADKD1, NAD kinase 2, mitochondrial, RGD1306809 |
| 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 NADK2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- kinase
- ATP-NAD kinase N-terminal domain
- protein homodimerization
- NAD kinase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- hepatocellular carcinoma
- liver cancer
- epithelial cancer
- progressive encephalopathy with leukodystrophy due to DECR deficiency
- 2,4-dienoyl-CoA reductase deficiency
- multinodular goiter
- mild 2,4-dienoyl-CoA reductase deficiency
regulates
- NAD+
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
- Mitochondria
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NADK2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- NAD metabolic process
- NADP biosynthetic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- NAD+ kinase activity
- ATP binding
- protein homodimerization activity