SLC47A2

Chr 17

solute carrier family 47 member 2

Also known as: MATE2, MATE2-B, MATE2-K, MATE2K

NCBI Gene: 146802 ENSG00000180638 UniProt: Q86VL8

This protein functions as a multidrug efflux pump that mediates the excretion of cationic compounds, drugs, toxins and endogenous metabolites including creatinine and thiamine through the kidney via H+/organic cation antiport activity. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, epilepsy, and progressive brain atrophy. The gene shows extremely low constraint against loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein belonging to a family of transporters involved in excretion of toxic electrolytes, both endogenous and exogenous, through urine and bile. This transporter family shares homology with the bacterial MATE (multidrug and toxin extrusion) protein family responsible for drug resistance. This gene is one of two members of the MATE transporter family located near each other on chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.13

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)