NPR2 natriuretic peptide receptor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NPR2provided by HGNC
Official Full Name: natriuretic peptide receptor 2provided by HGNC
Primary source: HGNC:HGNC:7944
See related: Ensembl:ENSG00000159899 MIM:108961; AllianceGenome:HGNC:7944
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: GCB; AMD1; AMDM; ANPb; ECDM; GC-B; NPRB; SNSK; ANPRB; GUC2B; NPRBi; GUCY2B
Summary: This gene encodes natriuretic peptide receptor B, one of two integral membrane receptors for natriuretic peptides. Both NPR1 and NPR2 contain five functional domains: an extracellular ligand-binding domain, a single membrane-spanning region, and intracellularly a protein kinase homology domain, a helical hinge region involved in oligomerization, and a carboxyl-terminal guanylyl cyclase catalytic domain. The protein is the primary receptor for C-type natriuretic peptide (CNP), which upon ligand binding exhibits greatly increased guanylyl cyclase activity. Mutations in this gene are the cause of acromesomelic dysplasia Maroteaux type. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in endometrium (RPKM 8.6), fat (RPKM 6.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9p13.3

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (35791591..35809731)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (35777317..35830398)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (35791588..35809728)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH.
Title: Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH.
Identification of Diagnostic Variants in FGFR2 and NPR2 Genes in a Chinese Family Affected by Crouzon Syndrome and Acromesomelic Dysplasia, Type Maroteaux.
Title: Identification of Diagnostic Variants in FGFR2 and NPR2 Genes in a Chinese Family Affected by Crouzon Syndrome and Acromesomelic Dysplasia, Type Maroteaux.
Heterozygous NPR2 Variants in Idiopathic Short Stature.
Title: Heterozygous NPR2 Variants in Idiopathic Short Stature.
Novel NPR2 Gene Mutations Affect Chondrocytes Function via ER Stress in Short Stature.
Title: Novel NPR2 Gene Mutations Affect Chondrocytes Function via ER Stress in Short Stature.
NPR2 gene variants in familial short stature: a single-center study.
Title: NPR2 gene variants in familial short stature: a single-center study.
Acromesomelic dysplasia-Maroteaux type, nine patients with two novel NPR2 variants.
Title: Acromesomelic dysplasia-Maroteaux type, nine patients with two novel NPR2 variants.
Clinical Characteristics of Short-Stature Patients With an NPR2 Mutation and the Therapeutic Response to rhGH.
Title: Clinical Characteristics of Short-Stature Patients With an NPR2 Mutation and the Therapeutic Response to rhGH.
Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience.
Title: Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience.
C-type natriuretic peptide (CNP)/guanylate cyclase B (GC-B) system and endothelin-1(ET-1)/ET receptor A and B system in human vasculature.
Title: C-type natriuretic peptide (CNP)/guanylate cyclase B (GC-B) system and endothelin-1(ET-1)/ET receptor A and B system in human vasculature.
Low and elevated B-type natriuretic peptide levels are associated with increased mortality in patients with preserved ejection fraction undergoing transcatheter aortic valve replacement: an analysis of the PARTNER II trial and registry.
Title: Low and elevated B-type natriuretic peptide levels are associated with increased mortality in patients with preserved ejection fraction undergoing transcatheter aortic valve replacement: an analysis of the PARTNER II trial and registry.

Submit: New GeneRIF Correction See all GeneRIFs (78)

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
Acromesomelic dysplasia 1, Maroteaux type MedGen: C1864356 OMIM: 602875 GeneReviews: Not available	Compare labs
Short stature with nonspecific skeletal abnormalities MedGen: C4225399 OMIM: 616255 GeneReviews: Not available	Compare labs
Tall stature-scoliosis-macrodactyly of the great toes syndrome MedGen: C4014690 OMIM: 615923 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Npr2 (e-PCR), detects polymorphism
- UniSTS:526955

SHGC-12605 (e-PCR)
- UniSTS:42636

STS-S83157 (e-PCR)
- UniSTS:67251

NPR2_7842 (e-PCR)
- UniSTS:466361

RH47078 (e-PCR)
- UniSTS:89030

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables guanylate cyclase activity	IBA Inferred from Biological aspect of Ancestor more info
enables guanylate cyclase activity	IDA Inferred from Direct Assay more info	PubMed
enables guanylate cyclase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables hormone binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IEA Inferred from Electronic Annotation more info
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 natriuretic peptide receptor activity	IMP Inferred from Mutant Phenotype 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 protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in activation of meiosis involved in egg activation	IEA Inferred from Electronic Annotation more info
involved_in axonogenesis involved in innervation	IEA Inferred from Electronic Annotation more info
involved_in blood vessel remodeling	IEA Inferred from Electronic Annotation more info
involved_in c-di-GMP signaling	IEA Inferred from Electronic Annotation more info
involved_in cGMP biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of cGMP biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to cGMP	IEA Inferred from Electronic Annotation more info
involved_in cellular response to granulocyte macrophage colony-stimulating factor stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to peptide	IEA Inferred from Electronic Annotation more info
involved_in chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in chondrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in chondrocyte proliferation	IEA Inferred from Electronic Annotation more info
involved_in chromosome organization	IEA Inferred from Electronic Annotation more info
involved_in collateral sprouting	IEA Inferred from Electronic Annotation more info
involved_in cumulus cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in digestive tract morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in endochondral ossification	IEA Inferred from Electronic Annotation more info
involved_in epidermal growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in execution phase of apoptosis	IEA Inferred from Electronic Annotation more info
involved_in female genitalia development	IEA Inferred from Electronic Annotation more info
involved_in gastric emptying	IEA Inferred from Electronic Annotation more info
involved_in genitalia morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in growth plate cartilage development	IEA Inferred from Electronic Annotation more info
involved_in limb morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in lymph vessel development	IEA Inferred from Electronic Annotation more info
involved_in meiotic cell cycle process involved in oocyte maturation	IEA Inferred from Electronic Annotation more info
involved_in multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of meiotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of oocyte maturation	IEA Inferred from Electronic Annotation more info
involved_in neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in neuronal action potential	IEA Inferred from Electronic Annotation more info
involved_in post-anal tail morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in receptor guanylyl cyclase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in receptor guanylyl cyclase signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in receptor guanylyl cyclase signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of blood pressure	TAS Traceable Author Statement more info	PubMed
involved_in response to fibroblast growth factor	IEA Inferred from Electronic Annotation more info
involved_in response to luteinizing hormone	IEA Inferred from Electronic Annotation more info
involved_in response to salt	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of sound	IEA Inferred from Electronic Annotation more info
involved_in smooth muscle tissue development	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info
involved_in startle response	IEA Inferred from Electronic Annotation more info
involved_in vacuole organization	IEA Inferred from Electronic Annotation more info
involved_in vascular wound healing	IEA Inferred from Electronic Annotation more info
involved_in vasculogenesis	IEA Inferred from Electronic Annotation more info
involved_in vestibulocochlear nerve maturation	IEA Inferred from Electronic Annotation more info
involved_in white fat cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cilium	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in neuron projection	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: atrial natriuretic peptide receptor 2

Names: atrial natriuretic peptide B-type receptor; atrial natriuretic peptide receptor type B; guanylate cyclase 2B; guanylate cyclase B; guanylyl cyclase B; natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)

NP_001365852.1

EC 4.6.1.2

NP_003986.2

EC 4.6.1.2

XP_024303329.1

EC 4.6.1.2

XP_047279387.1

EC 4.6.1.2

XP_054218985.1

EC 4.6.1.2

XP_054218986.1

EC 4.6.1.2

XP_054218987.1

EC 4.6.1.2

XP_054218988.1

EC 4.6.1.2

XP_054218989.1

EC 4.6.1.2

XP_054218990.1

EC 4.6.1.2

XP_054218991.1

EC 4.6.1.2

XP_054218992.1

EC 4.6.1.2

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_009249.1 RefSeqGene

Range

4183..22323

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001378923.1 → NP_001365852.1 atrial natriuretic peptide receptor 2 isoform 2 precursor

Status: REVIEWED

Source sequence(s)

AL133410

UniProtKB/TrEMBL

A0A8I5KSX8

Conserved Domains (4) summary

smart00044
Location:828 → 1012

CYCc; Adenylyl- / guanylyl cyclase, catalytic domain

cd14042
Location:521 → 795

PK_GC-A_B; Pseudokinase domain of the membrane Guanylate Cyclase receptors, GC-A and GC-B

cd06384
Location:26 → 421

PBP1_NPR_B; ligand-binding domain of type B natriuretic peptide receptor

pfam07701
Location:801 → 849

HNOBA; Heme NO binding associated
NM_003995.4 → NP_003986.2 atrial natriuretic peptide receptor 2 isoform 1 precursor

See identical proteins and their annotated locations for NP_003986.2

Status: REVIEWED

Source sequence(s)

AL133410

Consensus CDS

CCDS6590.1

UniProtKB/Swiss-Prot

B0ZBF2, B0ZBF3, D3DRP3, D3DRP4, O60871, P20594, Q4VAK7, Q5TCV2, Q8TA93, Q9UQ50

UniProtKB/TrEMBL

A0A8I5KSX8

Related

ENSP00000341083.2, ENST00000342694.7

Conserved Domains (4) summary

smart00044
Location:825 → 1009

CYCc; Adenylyl- / guanylyl cyclase, catalytic domain

cd14042
Location:518 → 792

PK_GC-A_B; Pseudokinase domain of the membrane Guanylate Cyclase receptors, GC-A and GC-B

cd06384
Location:26 → 421

PBP1_NPR_B; ligand-binding domain of type B natriuretic peptide receptor

pfam07701
Location:798 → 846

HNOBA; Heme NO binding associated

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

35791591..35809731

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047423431.1 → XP_047279387.1 atrial natriuretic peptide receptor 2 isoform X1
XM_024447561.2 → XP_024303329.1 atrial natriuretic peptide receptor 2 isoform X2

Related

ENST00000687625.1

Conserved Domains (3) summary

smart00044
Location:357 → 541

CYCc; Adenylyl- / guanylyl cyclase, catalytic domain

cd14042
Location:50 → 324

PK_GC-A_B; Pseudokinase domain of the membrane Guanylate Cyclase receptors, GC-A and GC-B

pfam07701
Location:333 → 378

HNOBA; Heme NO binding associated

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

35777317..35830398

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054363013.1 → XP_054218988.1 atrial natriuretic peptide receptor 2 isoform X3
XM_054363012.1 → XP_054218987.1 atrial natriuretic peptide receptor 2 isoform X3
XM_054363015.1 → XP_054218990.1 atrial natriuretic peptide receptor 2 isoform X3
XM_054363011.1 → XP_054218986.1 atrial natriuretic peptide receptor 2 isoform X3
XM_054363014.1 → XP_054218989.1 atrial natriuretic peptide receptor 2 isoform X3
XM_054363010.1 → XP_054218985.1 atrial natriuretic peptide receptor 2 isoform X3
XM_054363016.1 → XP_054218991.1 atrial natriuretic peptide receptor 2 isoform X1
XM_054363017.1 → XP_054218992.1 atrial natriuretic peptide receptor 2 isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_000907.2: Suppressed sequence

Description

NM_000907.2: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.