GPR15

Chr 3

G protein-coupled receptor 15

Also known as: BOB

NCBI Gene: 2838 ENSG00000154165 UniProt: P49685 OMIM: 601166

This protein functions as a G protein-coupled receptor that regulates immune homeostasis by controlling migration of regulatory T-cells to the large intestine and skin through chemokine signaling. Mutations cause autosomal recessive severe combined immunodeficiency with absence of peripheral T and NK cells and oral candidiasis. The gene is not highly constrained against loss-of-function variants, which is consistent with the recessive inheritance pattern observed in affected patients.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a G protein-coupled receptor that acts as a chemokine receptor for human immunodeficiency virus type 1 and 2. The encoded protein localizes to the cell membrane. [provided by RefSeq, Nov 2012]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.71

LOEUF

Multiple*

Mechanism· predicted