NDRG4
Chr 16NDRG family member 4
Also known as: BDM1, SMAP-8, SMAP8
The protein maintains intracerebral BDNF levels necessary for spatial learning and neuronal survival during ischemic stress, and modulates growth factor signaling pathways including ERK1/2 phosphorylation. Mutations cause autosomal dominant disease through a dominant-negative mechanism. The low pLI score and moderate LOEUF indicate this gene has some tolerance to loss-of-function variants, consistent with the dominant-negative pathogenic mechanism.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NDRG4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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