NPY4R

Chr 10

neuropeptide Y receptor Y4

Also known as: NPY4-R, PP1, PPYR1, Y4

NCBI Gene: 5540 ENSG00000204174 UniProt: P50391 OMIM: 601790

The NPY4R protein is a G protein-coupled receptor that binds pancreatic polypeptide, neuropeptide Y, and peptide YY to regulate cAMP signaling. Mutations in NPY4R cause autosomal recessive intellectual disability with obesity, short stature, and behavioral abnormalities. This gene shows very low constraint against loss-of-function variants (pLI near 0, LOEUF 1.75), consistent with recessive inheritance requiring biallelic mutations.

OMIM ResearchSummary from RefSeq, UniProt

Enables pancreatic polypeptide receptor activity and peptide hormone binding activity. Involved in G protein-coupled receptor signaling pathway. Located in 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

1.75

LOEUF

Multiple*

Mechanism· predicted