NPR2 (Natriuretic Peptide Receptor 2) is a Protein Coding gene. Diseases associated with NPR2 include acromesomelic dysplasia, maroteaux type and epiphyseal chondrodysplasia, miura type. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Cardiac conduction. GO annotations related to this gene include identical protein binding and protein kinase activity. An important paralog of this gene is GUCY1A3. This gene encodes natriuretic peptide receptor B, one of two integral membrane receptors for natriuretic peptides. Both NPR1 and NPR2 contain five functional domains: an extracellular ligand-binding domain, a single membrane-spanning region, and intracellularly a protein kinase homology domain, a helical hinge region involved in oligomerization, and a carboxyl-terminal guanylyl cyclase catalytic domain. The protein is the primary receptor for C-type natriuretic peptide (CNP), which upon ligand binding exhibits greatly increased guanylyl cyclase activity. Mutations in this gene are the cause of acromesomelic dysplasia Maroteaux type.
Receptor for the C-type natriuretic peptide NPPC/CNP hormone. Has guanylate cyclase activity upon binding of its ligand. May play a role in the regulation of skeletal growth. Acromesomelic dysplasia, Maroteaux type (AMDM) [MIM:602875]: An autosomal recessive acromesomelic chondrodysplasia. Acromesomelic chondrodysplasias are rare hereditary skeletal disorders characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMDM is characterized by axial skeletal involvement with wedging of vertebral bodies. In AMDM all skeletal elements are present but show abnormal rates of linear growth. Note=The disease is caused by mutations affecting the gene represented in this entry. Epiphyseal chondrodysplasia, Miura type (ECDM) [MIM:615923]: An overgrowth syndrome characterized by tall stature, long hands and feet with arachnodactyly, macrodactyly of the great toes, scoliosis, coxa valga and slipped capital femoral epiphysis. Short stature with non-specific skeletal abnormalities (SNSK) [MIM:616255]: A condition characterized by short stature, defined as a height less than 2 SD below normal, and no endocrine abnormalities. Natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B), also known as NPR2, is an atrial natriuretic peptide receptor. In humans it is encoded by the NPR2 gene. 0The function about NPR2 antigen include ATP binding; GTP binding; guanylate cyclase activity; hormone binding; identical protein binding; natriuretic peptide receptor activity; nucleotide binding; peptide hormone binding; protein kinase activity; receptor activity; transferase activity, transfe.
Purine metabolism, organism-specific biosystem; Purine metabolism, conserved biosystem; Vascular smooth muscle contraction, organism-specific biosystem; Vascular smooth muscle contraction, conserved biosystem.