NDRG4

Chr 16

NDRG family member 4

Also known as: BDM1, SMAP-8, SMAP8

NCBI Gene: 65009 ENSG00000103034 UniProt: Q9ULP0

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.

ResearchSummary from RefSeq, UniProt, Mechanism

This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein that is required for cell cycle progression and survival in primary astrocytes and may be involved in the regulation of mitogenic signalling in vascular smooth muscles cells. Alternative splicing results in multiple transcripts encoding different isoforms.[provided by RefSeq, Jun 2011]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.58

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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