Recombinant Human Atrial natriuretic peptide receptor 2 (NPR2), partial

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

Subcellular Location

Cell membrane (Single-pass type I membrane protein)

Disease Association

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. [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. [The disease is caused by variants affecting the gene represented in this entry] | Short stature with non-specific skeletal abnormalities 1 (SNSK1) : An autosomal dominant condition characterized by short stature, defined as a height less than 2 SD below normal, and no endocrine abnormalities. Some SNSK1 patients show delayed bone age. [The disease is caused by variants affecting the gene represented in this entry]

• Chang M.S. et al. Differential activation by atrial and brain natriuretic peptides of two different receptor guanylate cyclases. — Nature (1989)
• Rehemudula D. et al. Structure of the type B human natriuretic peptide receptor gene and association of a novel microsatellite polymorphism with essential hypertension. — Circ. Res. (1999)
• Hirsch J.R. et al. cGMP-dependent and -independent inhibition of a K+ conductance by natriuretic peptides: molecular and functional studies in human proximal tubule cells. — J. Am. Soc. Nephrol. (1999)
• Humphray S.J. et al. DNA sequence and analysis of human chromosome 9. — Nature (2004)
• Mural R.J. et al. PubMed: CI-5GBD0VIIJ7C63 (SEP-)
• PubMed: CI-FDNV2K4FQT0J2 (DEC-)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Bennett B.D. et al. Extracellular domain-IgG fusion proteins for three human natriuretic peptide receptors. Hormone pharmacology and application to solid phase screening of synthetic peptide antisera. — J. Biol. Chem. (1991)