GENETIC ENCYCLOPEDIA
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gene: NPR2

id4882
symbolNPR2
organismHomo sapiens
full namenatriuretic peptide receptor 2
summaryThis 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]
variant-disease

NM_003995.3(NPR2):c.1162C>T (p.Arg388Ter) AND Acromesomelic dysplasia Maroteaux type

NM_003995.3(NPR2):c.226T>C (p.Ser76Pro) AND Short stature with nonspecific skeletal abnormalities

NM_003995.3(NPR2):c.328C>T (p.Arg110Cys) AND Short stature with nonspecific skeletal abnormalities

NM_003995.3(NPR2):c.668-1G>C AND Inborn genetic diseases

NM_003995.3(NPR2):c.477C>T (p.His159=) AND multiple conditions

... 142 more


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