GPR35

Chr 2

G protein-coupled receptor 35

NCBI Gene: 2859 ENSG00000178623 UniProt: Q9HC97 OMIM: 602646

The GPR35 protein is a G-protein coupled receptor that binds ligands including kynurenic acid, lysophosphatidic acid, and serotonin metabolites to regulate immune cell function, mitochondrial metabolism, and inflammatory responses. Mutations in GPR35 cause autosomal recessive primary immunodeficiency with recurrent infections and inflammatory bowel disease-like symptoms. The gene shows low constraint to loss-of-function variation (pLI 0.005, LOEUF 1.51), consistent with a recessive inheritance pattern where biallelic mutations are required for disease.

OMIM ResearchSummary from RefSeq, UniProt

Enables C-X-C chemokine receptor activity. Involved in chemokine-mediated signaling pathway; negative regulation of voltage-gated calcium channel activity; and positive regulation of cytosolic calcium ion concentration. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.51

LOEUF

Multiple*

Mechanism· predicted