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FLASH GENE

Symbol

NPR2

contributors: mct/npt - updated : 01-07-2019

HGNC name	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)
HGNC id	7944

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AMDM acromesomelic chondrodysplasia, Maroteaux type OVGS overgrowth syndrome
Location	9p13.3      Physical location : 35.792.405 - 35.809.727
Synonym name	atrial natriuretic peptide B-type receptor
	atrionatriuretic peptide receptor B
	guanylate cyclase B
Synonym symbol(s)	ANPRB, GUC2B, GC-B, NPRB, GUCY2B, NPRBi
EC.number	4.6.1.2.

DNA

TYPE	functioning gene
STRUCTURE	17.32 kb     22 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 2 - - 3482 isoform 2 - 995 - Hirsch also called NPR2 Ia a 71 nucleotide insertion relative to isoform b that results in a different, and shorter, carboxy-terminus that may disrupt the guanylyl cyclase activity NM_003995 21 - 3447 - 1047 brain, adrenal gland ,uterus,growth plate chondrocytes Hirsch, Tamura , Bartels, Hachiya (2007) does not include the alternate exon found in isoform a, and thus isoform b contains a different, and longer, carboxy-terminus.

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine neuroendocrine pituitary     highly Homo sapiens Hearing/Equilibrium ear       highly Homo sapiens Reproductive female system ovary       Mus musculus

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       Homo sapiens Connective cartilage       Homo sapiens Epithelial secretory glandular endocrine   Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol not specific chondrocyte Homo sapiens Reproductive granulosa cell Mus musculus Skeleton osteoblast Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

pancreas

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	five functional domains: an extracellular ligand-binding domain
	a single membrane-spanning region
	an intracellularly a protein kinase homology domain
	a ligand binding domain
	an helical hinge region involved in oligomerization
	cytoplasmic domains of both NPR1 and NPR2 display a guanylate cyclase activity that catalyzes the formation of cyclic GMP 0)
	a carboxyl-terminal guanylyl cyclase catalytic domain

HOMOLOGY

intraspecies

paralog to NPR1

Homologene

FAMILY

adenylyl cyclase class-4/guanylyl cyclase family

CATEGORY

enzyme , signaling hormone , receptor

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	Type I membrane protein

basic FUNCTION	membrane guanylate cyclase GC-B, potentially playing a role in neuroendocrine regulation
	having guanylate cyclase activity on binding of NPPA, stimulated more effectively by brain natriuretic peptide (NPPB) than by NPPA
	involved in the regulation of skeletal growth
	required for bifurcation of the spiral ganglion (SG) central axon
	in preovulatory ovarian follicles, the oocyte is maintained in meiotic prophase arrest by natriuretic peptide precursor C (NPPC) and its receptor natriuretic peptide receptor 2 (NPR2)
	novel role for NPPC/NPR2 in the epididymal epithelium, presumably in context of local water balance
	C-type natriuretic NPPC and its receptor, NPR2 is involved in the longitudinal growth of long bones

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cardiovascular

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	ligand of NPPC (system NPR2/NPPC important in endochondral ossification)
	signaling by NPPC through its receptor, natriuretic peptide receptor 2 (NPR2), was found to be essential for meiotic arrest at the late antral stage
	vasonatrin peptide stimulates both of the natriuretic peptide receptors, NPR1 and NPR2

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AMDM , OVGS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       gain of function its activity is increased in non-myocytes from failing human ventricles, possibly as a result of increased fibrosis constitutional     --low   causes a reduction in the hypertrophic and proliferative zones of the growth plate, but mineralization of skeletal elements is normal constitutional germinal mutation       could be an important cause of nonsyndromic familial short stature

Susceptibility

to have short stature

Variant & Polymorphism other	heterozygous mutations in NPR2 are associated with short stature (1/30 individuals with idiopathic short stature are carriers of NPR2 mutations)

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed diabete     NPR2 agonists can be potential candidates for treating retinal edema in diabetic patients

ANIMAL & CELL MODELS

	dwarf phenotype of the SLW mouse is caused by the disturbed endochondral ossification, and a mutation in the Npr2 gene is expected to be responsible for the phenotypes of the SLW mouse (Sogawa 2007)
	Pwe homozygous mutants exhibit growth delay and disproportionate dwarfism that is evident at 2 weeks of age, with growth insufficiency and female infertility
	spermatozoa from Npr2 mutant mice were not attracted by Nppc, preventing fertilization in vivo