The npr2 gene encodes a membrane-bound receptor known as natriuretic peptide receptor 2, which functions as a guanylyl cyclase. This receptor is activated by the ligand c-type natriuretic peptide (cnp)...[+]

The npr2 gene encodes a membrane-bound receptor known as natriuretic peptide receptor 2, which functions as a guanylyl cyclase. This receptor is activated by the ligand c-type natriuretic peptide (cnp) to produce the second messenger cyclic gmp. It is expressed in the brain, spinal cord, neural tube, eye, otic vesicle, branchial arches, pronephros, and heart during development. The protein localizes to the apical membrane of tissues such as the renal tubules within the pronephros. Signaling through this receptor is involved in the regulation of endochondral bone formation and cilia length control within the Kupffer's vesicle, which is analogous to the mammalian node. [-]

             Miura type epiphyseal chondrodysplasia

          EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE; ECDM
          SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 1; SNSK1

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD