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FLASH GENE

Symbol

NPR3

contributors: mct/npt - updated : 16-01-2024

HGNC name	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)
HGNC id	7945

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BOMOS Boudin-Mortier syndrome
Location	5p13.3      Physical location : 32.711.664 - 32.787.252
Synonym name	atrial natriuretic peptide C-type receptor
	atrial natriuretic peptide clearance receptor precursor
	guanylate cyclase C
Synonym symbol(s)	ANPRC, GUCY2B, NPRC, ANP-C, CNPR, ANP-C, BOMOS, C5orf23, NPR-C, FLJ14054, MGC22189
EC.number	4.6.1.2.

DNA

TYPE	functioning gene
STRUCTURE	100.85 kb     8 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 NM_000908 8 - 7454 NP_000899 - 540 - 2023 37543430 NM_001364458 8 - 6294 NP_001351387 - 301 - 2023 37543430 NM_001363652 8 - 6367 NP_001350581 - 325 - 2023 37543430 NM_001204376 8 - 6364 NP_001191305 - 324 - 2023 37543430 NM_001364460 7 - 6244 NP_001351389 - 284 - 2023 37543430 NM_001204375 8 - 7457 NP_001191304 - 541 - 2023 37543430

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 pancreas       highly Nervous nerve       highly Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...)

cell lineage

cell lines

fluid/secretion

at STAGE

Text	expressed in the dorsal horn of the embryonic spinal cord (Schmidt 2009)

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one transmembrane segment (1TM) and
	an intracellular domain, without guanylate cyclase activity

mono polymer

homomer , dimer

HOMOLOGY

Homologene

FAMILY

ANF receptor family, natriuretic peptides family

CATEGORY

enzyme , signaling hormone , receptor

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular

basic FUNCTION	involved in the systemic clearance of circulating natriuretic peptides and in the control of local effects of the natriuretic peptide system
	playing a role for in the regulation of glucagon secretion from human alpha cells (Burgess 2009)
	NPR3 protects cardiomyocytes from apoptosis through inhibition of cytosolic BRCA1 and TNF, which are regulators of apoptosis
	anti-apoptosis role of NPR3 in protecting cardiomyocytes suggesting molecular link between natriuretic peptides (NPs) system and programmed cell death
	NPR3 lacks the guanylate cyclase activity of NPR1 and NPR2 and is reportedly coupled to Gi-dependent signaling
	plays a pivotal role by differentially regulating two developmental programs through its dual function as clearance and signaling receptor
	regulates neural crest and cranial placode progenitors formation through its dual function as clearance and signaling receptor

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cardiovascular

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	could interact with OSTN (modulating NPR3 actions on the skeleton) (Moffatt 2007)
	OSTN binds to NPR3 competitively with NPPA and may affect NPPA concentrations in a local or systemic manner
	role of NPR3 in anti-apoptosis via the breast cancer type 1 susceptibility protein (BRCA1) and TNF
	OSTN binds to natriuretic peptide receptor 3 (NPR3) in periosteal osteoprogenitors, thereby preventing NPR3-mediated clearance of NPPC and consequently facilitating NPPC-signal-mediated bone growth

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

BOMOS

Susceptibility

to cerebrovascular disease

Variant & Polymorphism other	NPR3 promoter gene variant could have a role on cerebrovascular disease susceptibility

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	its complete absence, unexpectidly produces skeletal abnormalities in mice
	continuous infusion of the peptide Ostn, an endogenous ligand of Npr3 secreted by bone and muscle cells, lowered blood pressure in wild-type mice, suggesting that endogenous natriuretic peptides play major roles in the regulation of blood pressure