NADK2
Chr 5ARNAD kinase 2, mitochondrial
Also known as: C5orf33, DECRD, MNADK, NADKD1
The protein is a mitochondrial NAD(+) kinase that phosphorylates NAD(+) to yield NADP(+), using either ATP or inorganic polyphosphate as the phosphoryl donor. Mutations cause 2,4-dienoyl-CoA reductase deficiency, which follows autosomal recessive inheritance. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.52), suggesting some tolerance to complete gene loss.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
327 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 18 | 0 | 18 |
Likely Pathogenic | 1 | 0 | 3 | 0 | 4 |
VUS | 9 | 122 | 11 | 2 | 144 |
Likely Benign | 1 | 2 | 62 | 62 | 127 |
Benign | 0 | 4 | 22 | 3 | 29 |
Conflicting | — | 5 | |||
| Total | 11 | 128 | 116 | 67 | 327 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NADK2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools