NPR2

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]

Full Name

natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)

Function

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.

Biological Process

Bone developmentIEA:Ensembl
Cellular response to granulocyte macrophage colony-stimulating factor stimulusManual Assertion Based On ExperimentIEP:UniProtKB
cGMP biosynthetic processManual Assertion Based On ExperimentIDA:GO_Central
cGMP-mediated signalingIEA:Ensembl
Negative regulation of meiotic cell cycleIEA:Ensembl
Negative regulation of oocyte maturationIEA:Ensembl
OssificationIEA:UniProtKB-KW
Positive regulation of cGMP-mediated signalingIEA:Ensembl
Receptor guanylyl cyclase signaling pathwayManual Assertion Based On ExperimentIDA:UniProtKB
Regulation of blood pressureManual Assertion Based On ExperimentTAS:ProtInc
Reproductive processIEA:Ensembl
Signal transductionManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Cell membrane

Involvement in disease

Acromesomelic dysplasia 1 (AMD1):
A form of acromesomelic dysplasia, a skeletal disorder 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). AMD1 is an autosomal recessive form characterized by axial skeletal involvement with wedging of vertebral bodies. All skeletal elements are present but show abnormal rates of linear growth.
Epiphyseal chondrodysplasia, Miura type (ECDM):
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):
A condition characterized by short stature, defined as a height less than 2 SD below normal, and no endocrine abnormalities.

Topology

Extracellular: 23-458
Helical: 459-478
Cytoplasmic: 479-1047

PTM

Phosphorylated (PubMed:26980729).
Phosphorylation of the protein kinase-like domain is required for full activation by CNP (By similarity).
Glycosylated.