SLC20A2

Chr 8

solute carrier family 20 member 2

Also known as: GLVR-2, GLVR2, IBGC1, IBGC2, IBGC3, MLVAR, PIT-2, PIT2

NCBI Gene: 6575 ENSG00000168575 UniProt: Q08357

The protein functions as a sodium-phosphate symporter that transports phosphate across cell membranes and is critical for maintaining normal cerebrospinal fluid phosphate levels and bone mineralization. Mutations cause familial idiopathic basal ganglia calcification, which follows an autosomal dominant inheritance pattern. The gene is highly constrained against loss-of-function variants (pLI 0.97, LOEUF 0.33), indicating intolerance to haploinsufficiency.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the inorganic phosphate transporter family. The encoded protein is a type 3 sodium-dependent phosphate symporter that plays an important role in phosphate homeostasis by mediating cellular phosphate uptake. The encoded protein also confers susceptibility to viral infection as a gamma-retroviral receptor. Mutations in this gene may play a role in familial idiopathic basal ganglia calcification. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtBasal ganglia calcification, idiopathic, 1

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

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P/LP missense

0.33

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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