ADIPOR2

Chr 12

adiponectin receptor 2

ADIPOR2 encodes adiponectin receptor 2, which binds the hormone adiponectin and activates signaling pathways that regulate fatty acid oxidation and glucose uptake. Mutations in this gene cause autosomal recessive diabetes mellitus. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.518), suggesting some intolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

Receptor for ADIPOQ, an essential hormone secreted by adipocytes that regulates glucose and lipid metabolism (PubMed:12802337, PubMed:25855295). Required for normal body fat and glucose homeostasis. ADIPOQ-binding activates a signaling cascade that leads to increased PPARA activity, and ultimately to increased fatty acid oxidation and glucose uptake. Has intermediate affinity for globular and full-length adiponectin. Required for normal revascularization after chronic ischemia caused by severing of blood vessels (By similarity)

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.52

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (2)

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