NPFFR2

Chr 4

neuropeptide FF receptor 2

Also known as: GPR74, HLWAR77, NPFF2, NPGPR

NCBI Gene: 10886 ENSG00000056291 UniProt: Q9Y5X5 OMIM: 607449

The protein functions as a G-protein-coupled receptor that binds neuropeptides NPAF and NPFF to regulate pain modulation and opioid system function through phosphatidylinositol-calcium signaling. Biallelic mutations cause autosomal recessive normosmic congenital hypogonadotropic hypogonadism, a disorder affecting reproductive hormone regulation that typically presents with delayed or absent puberty. The gene shows very low constraint against loss-of-function variants, consistent with recessive inheritance where one functional copy is insufficient.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of a subfamily of G-protein-coupled neuropeptide receptors. This protein is activated by the neuropeptides A-18-amide (NPAF) and F-8-amide (NPFF) and may function in pain modulation and regulation of the opioid system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.13

LOEUF

Multiple*

Mechanism· predicted