Gene Symbol | NPR2 |
Entrez Gene ID | 4882 |
Full Name | natriuretic peptide receptor 2 |
Synonyms | AMDM,ANPRB,ANPb,ECDM,GUC2B,GUCY2B,NPRB,NPRBi,SNSK |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Acromesomelic dysplasia, Maroteaux type, 602875 (3); Epiphyseal chondrodysplasia, Miura type, 615923 (3); Short stature with nonspecific skeletal abnormalities, 616255 (3) |