NIPA2

Chr 15

NIPA magnesium transporter 2

Also known as: SLC57A2

NCBI Gene: 81614 ENSG00000140157 UniProt: Q8N8Q9

The protein functions as a selective magnesium transporter and is highly constrained against loss-of-function variants (pLI=0.92, LOEUF=0.38). Mutations cause autosomal recessive childhood-onset spastic paraplegia with progressive lower limb spasticity and weakness. The gene is located in the Prader-Willi syndrome deletion region on chromosome 15, though NIPA2 mutations cause a distinct neurological phenotype from Prader-Willi syndrome.

ResearchSummary from RefSeq, UniProt

This gene encodes a possible magnesium transporter. This gene is located adjacent to the imprinted domain in the Prader-Willi syndrome deletion region of chromosome 15. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 7 and 21.[provided by RefSeq, May 2010]

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.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.38

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429