NPR3 natriuretic peptide receptor 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NPR3provided by HGNC
Official Full Name: natriuretic peptide receptor 3provided by HGNC
Primary source: HGNC:HGNC:7945
See related: Ensembl:ENSG00000113389 MIM:108962; AllianceGenome:HGNC:7945
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NPRC; ANP-C; ANPRC; BOMOS; NPR-C; ANPR-C; GUCY2B; C5orf23
Summary: This gene encodes one of three natriuretic peptide receptors. Natriutetic peptides are small peptides which regulate blood volume and pressure, pulmonary hypertension, and cardiac function as well as some metabolic and growth processes. The product of this gene encodes a natriuretic peptide receptor responsible for clearing circulating and extracellular natriuretic peptides through endocytosis of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
Expression: Biased expression in kidney (RPKM 35.4), fat (RPKM 14.2) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5p13.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (32690872..32791720)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (32804528..32905709)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (32690978..32791826)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TMT-based quantitative proteomic analysis revealed that FBLN2 and NPR3 are involved in the early osteogenic differentiation of mesenchymal stem cells (MSCs).
Title: TMT-based quantitative proteomic analysis revealed that FBLN2 and NPR3 are involved in the early osteogenic differentiation of mesenchymal stem cells (MSCs).
NPRC deletion mitigated atherosclerosis by inhibiting oxidative stress, inflammation and apoptosis in ApoE knockout mice.
Title: NPRC deletion mitigated atherosclerosis by inhibiting oxidative stress, inflammation and apoptosis in ApoE knockout mice.
Genetic evidence implicating natriuretic peptide receptor-3 in cardiovascular disease risk: a Mendelian randomization study.
Title: Genetic evidence implicating natriuretic peptide receptor-3 in cardiovascular disease risk: a Mendelian randomization study.
NPR3, transcriptionally regulated by POU2F1, inhibits osteosarcoma cell growth through blocking the PI3K/AKT pathway.
Title: NPR3, transcriptionally regulated by POU2F1, inhibits osteosarcoma cell growth through blocking the PI3K/AKT pathway.
Oxygen and steroids affect the regulatory role of natriuretic peptide receptor-C on surfactant secretion by type II cells.
Title: Oxygen and steroids affect the regulatory role of natriuretic peptide receptor-C on surfactant secretion by type II cells.
LncRNA FENDRR Upregulation Promotes Hepatic Carcinoma Cells Apoptosis by Targeting miR-362-5p Via NPR3 and p38-MAPK Pathway.
Title: LncRNA FENDRR Upregulation Promotes Hepatic Carcinoma Cells Apoptosis by Targeting miR-362-5p Via NPR3 and p38-MAPK Pathway.
A role of NPR-C mutation in pulmonary arterial hypertension is reviewed.
Title: Pulmonary Arterial Hypertension Due to NPR-C Mutation: A Novel Paradigm for Normal and Pathologic Remodeling?
The levels of ANP, NPRA, IL-4 and GATA3 increased in peripheral blood of children with respiratory syncytial virus bronchiolitis.
Title: [Up-regulation of atrial natriuretic peptide and GATA3 levels in peripheral blood of children with respiratory syncytial virus bronchiolitis].
loss of NPR-C reduces HRV due to perturbations in the regulation of the heart by the autonomic nervous system
Title: Altered heart rate regulation by the autonomic nervous system in mice lacking natriuretic peptide receptor C (NPR-C).
It was the aim to investigate the expression of natriuretic peptide receptors NPR-A, NPR-B and NPR-C during adipocyte differentiation (AD), upon stimulation with fatty acids (FA), and in murine and human adipose tissue depots.
Title: Regulation of natriuretic peptides postprandially in vivo and of their receptors in adipocytes by fatty acids in vitro.

Submit: New GeneRIF Correction See all GeneRIFs (48)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Boudin-Mortier syndrome MedGen: C5561992 OMIM: 619543 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation. EBI GWAS Catalog EBI GWAS CatalogPubMed
Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants and environmental factors associated with hormonal markers of ovarian reserve in Caucasian and African American women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Microarray analysis indicates HIV-1 Tat-induced downregulation of natriuretic peptide receptor 3 (NPR3) in primary human brain microvascular endothelial cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

L28195 (e-PCR)
- UniSTS:54027

NoName (e-PCR)
- UniSTS:482392

SHGC-146519 (e-PCR)
- UniSTS:175267

SHGC-56933 (e-PCR)
- UniSTS:29604

SGC32140 (e-PCR)
- UniSTS:53949

RH71385 (e-PCR)
- UniSTS:89038

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled peptide receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables chloride ion binding	IDA Inferred from Direct Assay more info	PubMed
enables hormone binding	IPI Inferred from Physical Interaction more info	PubMed
enables natriuretic peptide receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables natriuretic peptide receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables peptide binding	IPI Inferred from Physical Interaction more info	PubMed
enables peptide hormone binding	IBA Inferred from Biological aspect of Ancestor more info
enables peptide hormone binding	IPI Inferred from Physical Interaction more info	PubMed
enables peptide hormone binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in blood vessel remodeling	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in osteoclast proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of nitric-oxide synthase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of urine volume	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of blood pressure	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of osteoblast proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to ischemia	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal system development	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in plasma membrane	IC Inferred by Curator more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: atrial natriuretic peptide receptor 3

Names: atrial natriuretic peptide clearance receptor; atrial natriuretic peptide receptor type C; atrionatriuretic peptide receptor C; guanylate cyclase C; natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_028162.2 RefSeqGene

Range

27246..107645

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000908.4 → NP_000899.1 atrial natriuretic peptide receptor 3 isoform 2 precursor

See identical proteins and their annotated locations for NP_000899.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.

Source sequence(s)

AC008766, AC026703, AF025998

Consensus CDS

CCDS47196.1

UniProtKB/TrEMBL

A8K4A5, Q60I31

Related

ENSP00000398028.2, ENST00000415167.2

Conserved Domains (3) summary

cd06386
Location:54 → 446

PBP1_NPR_C_like; Ligand-binding domain of type C natriuretic peptide receptor

cd12841
Location:471 → 506

TM_EphA1; Transmembrane domain of Ephrin Receptor A1 Protein Tyrosine Kinase

pfam01094
Location:71 → 422

ANF_receptor; Receptor family ligand binding region
NM_001204375.2 → NP_001191304.1 atrial natriuretic peptide receptor 3 isoform 1 precursor

See identical proteins and their annotated locations for NP_001191304.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).

Source sequence(s)

AC008766, AC026703, AK290870

Consensus CDS

CCDS56357.1

UniProtKB/Swiss-Prot

A2RRD1, B4DT84, E7EPG9, P17342

UniProtKB/TrEMBL

A8K4A5

Related

ENSP00000265074.8, ENST00000265074.13

Conserved Domains (3) summary

cd06386
Location:54 → 446

PBP1_NPR_C_like; Ligand-binding domain of type C natriuretic peptide receptor

cd12841
Location:476 → 507

TM_EphA1; Transmembrane domain of Ephrin Receptor A1 Protein Tyrosine Kinase

pfam01094
Location:71 → 422

ANF_receptor; Receptor family ligand binding region
NM_001204376.2 → NP_001191305.1 atrial natriuretic peptide receptor 3 isoform 3

See identical proteins and their annotated locations for NP_001191305.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AC008766, AC026703, AK300094

Consensus CDS

CCDS56356.1

UniProtKB/Swiss-Prot

P17342

Related

ENSP00000318340.2, ENST00000326958.5

Conserved Domains (2) summary

cl10011
Location:39 → 230

Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily

cl25995
Location:255 → 290

TM_EphA1; Transmembrane domain of Ephrin Receptor A1 Protein Tyrosine Kinase
NM_001363652.2 → NP_001350581.1 atrial natriuretic peptide receptor 3 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AC008766, AC026703

Consensus CDS

CCDS87291.1

UniProtKB/TrEMBL

C9JK69

Related

ENSP00000388408.2, ENST00000434067.6

Conserved Domains (2) summary

cl10011
Location:39 → 230

Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily

cl25995
Location:260 → 291

TM_EphA1; Transmembrane domain of Ephrin Receptor A1 Protein Tyrosine Kinase
NM_001364458.2 → NP_001351387.1 atrial natriuretic peptide receptor 3 isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (5) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AC008766, AC026703

Conserved Domains (2) summary

cl10011
Location:17 → 206

Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily

cl25995
Location:236 → 267

TM_EphA1; Transmembrane domain of Ephrin Receptor A1 Protein Tyrosine Kinase
NM_001364460.2 → NP_001351389.1 atrial natriuretic peptide receptor 3 isoform 6

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (6) has a shorter and distinct N-terminus and lacks an alternate internal segment compared to isoform 1.

Source sequence(s)

AC008766, AC026703

Conserved Domains (2) summary

cl10011
Location:41 → 189

Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily

cl25995
Location:219 → 250

TM_EphA1; Transmembrane domain of Ephrin Receptor A1 Protein Tyrosine Kinase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

32690872..32791720

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

32804528..32905709

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_024563.3: Suppressed sequence

Description

NM_024563.3: This RefSeq was permanently suppressed because it is now thought that this gene does not encode a protein.