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

Gene ID: 4882, updated on 8-Dec-2022

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
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Genomic context

See NPR2 in Genome Data Viewer
Location:
9p13.3
Exon count:
22
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (35791591..35809731)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (35812259..35830398)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (35791588..35809728)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene cAMP responsive element binding protein 3 Neighboring gene glucosylceramidase beta 2 Neighboring gene RGP1 homolog, RAB6A GEF complex partner 1 Neighboring gene microseminoprotein, prostate associated Neighboring gene sperm associated antigen 8 Neighboring gene histidine triad nucleotide binding protein 2 Neighboring gene family with sequence similarity 221 member B

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
acts_upstream_of cGMP biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cGMP-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
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 positive regulation of cGMP-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
involved_in post-anal tail morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
involved_in receptor guanylyl cyclase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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

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
NP_003986.2
XP_024303329.1
XP_047279387.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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

  1. NG_009249.1 RefSeqGene

    Range
    4183..22323
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AL133410
    Conserved Domains (4) summary
    smart00044
    Location:8281012
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    cd14042
    Location:521795
    PK_GC-A_B; Pseudokinase domain of the membrane Guanylate Cyclase receptors, GC-A and GC-B
    cd06384
    Location:26421
    PBP1_NPR_B; ligand-binding domain of type B natriuretic peptide receptor
    pfam07701
    Location:801849
    HNOBA; Heme NO binding associated
  2. NM_003995.4NP_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
    P20594, Q9UQ50
    Related
    ENSP00000341083.2, ENST00000342694.7
    Conserved Domains (4) summary
    smart00044
    Location:8251009
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    cd14042
    Location:518792
    PK_GC-A_B; Pseudokinase domain of the membrane Guanylate Cyclase receptors, GC-A and GC-B
    cd06384
    Location:26421
    PBP1_NPR_B; ligand-binding domain of type B natriuretic peptide receptor
    pfam07701
    Location:798846
    HNOBA; Heme NO binding associated

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    35791591..35809731
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047423431.1XP_047279387.1  atrial natriuretic peptide receptor 2 isoform X1

  2. XM_024447561.2XP_024303329.1  atrial natriuretic peptide receptor 2 isoform X2

    Related
    ENST00000687625.1
    Conserved Domains (3) summary
    smart00044
    Location:357541
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    cd14042
    Location:50324
    PK_GC-A_B; Pseudokinase domain of the membrane Guanylate Cyclase receptors, GC-A and GC-B
    pfam07701
    Location:333378
    HNOBA; Heme NO binding associated

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    35812259..35830398
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_000907.2: Suppressed sequence

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