NPR2
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.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated (PubMed:26980729). Phosphorylation of the protein kinase-like domain is required for full activation by CNP (By similarity).
Glycosylated.
Sequence Similarities
Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
Alternative names
ANPRB, NPR2, Atrial natriuretic peptide receptor 2, Atrial natriuretic peptide receptor type B, Guanylate cyclase B, ANP-B, ANPR-B, NPR-B, GC-B