CYSLTR2

Chr 13

cysteinyl leukotriene receptor 2

Also known as: CYSLT2, CYSLT2R, GPCR21, HG57, HPN321, KPG_011, PSEC0146, hGPCR21

NCBI Gene: 57105 ENSG00000152207 UniProt: Q9NS75 OMIM: 605666

The protein is a G protein-coupled receptor that binds cysteinyl leukotrienes (LTC4, LTD4, and LTE4) and activates phosphatidylinositol-calcium signaling, playing a major role in endocrine and cardiovascular systems. Mutations in this gene cause uveal coloboma with cleft lip and palate, which follows an autosomal recessive inheritance pattern. The condition affects ocular development and craniofacial structures during embryogenesis.

OMIM ResearchSummary from RefSeq, UniProt

The cysteinyl leukotrienes LTC4, LTD4, and LTE4 are important mediators of human bronchial asthma. Pharmacologic studies have determined that cysteinyl leukotrienes activate at least 2 receptors, the protein encoded by this gene and CYSLTR1. This encoded receptor is a member of the superfamily of G protein-coupled receptors. It seems to play a major role in endocrine and cardiovascular systems. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.77

LOEUF

Multiple*

Mechanism· predicted