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

Gene ID: 4882, updated on 14-Jun-2020

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
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; 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

Genomic context

See NPR2 in Genome Data Viewer
Location:
9p13.3
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (35782086..35809731)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (35789962..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 family with sequence similarity 221 member B Neighboring gene histidine triad nucleotide binding protein 2 Neighboring gene transmembrane protein 8B

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, Maroteaux type
MedGen: C1864356 OMIM: 602875 GeneReviews: Not available
Compare labs
Epiphyseal chondrodysplasia, miura type
MedGen: C4014690 OMIM: 615923 GeneReviews: Not available
Compare labs
Short stature with nonspecific skeletal abnormalities
MedGen: C4225399 OMIM: 616255 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.
NHGRI GWA 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
ATP binding IEA
Inferred from Electronic Annotation
more info
 
GTP binding IEA
Inferred from Electronic Annotation
more info
 
guanylate cyclase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
guanylate cyclase activity IDA
Inferred from Direct Assay
more info
PubMed 
guanylate cyclase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
hormone binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
natriuretic peptide receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
natriuretic peptide receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
natriuretic peptide receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptide hormone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptide hormone binding IPI
Inferred from Physical Interaction
more info
PubMed 
peptide receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
bone development IEA
Inferred from Electronic Annotation
more info
 
cGMP biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cGMP biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
cGMP-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
cellular response to granulocyte macrophage colony-stimulating factor stimulus IEP
Inferred from Expression Pattern
more info
PubMed 
negative regulation of meiotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
negative regulation of oocyte maturation IEA
Inferred from Electronic Annotation
more info
 
ossification IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cGMP-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
receptor guanylyl cyclase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
receptor guanylyl cyclase signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
receptor guanylyl cyclase signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of blood pressure TAS
Traceable Author Statement
more info
PubMed 
regulation of cardiac conduction TAS
Traceable Author Statement
more info
 
reproductive process IEA
Inferred from Electronic Annotation
more info
 
signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
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
natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)
NP_001365852.1
NP_003986.2
XP_024303324.1
XP_024303325.1
XP_024303326.1
XP_024303327.1
XP_024303328.1
XP_024303329.1

NCBI Reference Sequences (RefSeq)

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
    5001..22323
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AL133410
  2. NM_003995.4NP_003986.2  atrial natriuretic peptide receptor 2 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
    Related
    ENSP00000341083.2, ENST00000342694.6
    Conserved Domains (4) summary
    cd06384
    Location:26421
    PBP1_NPR_B; Ligand-binding domain of type B natriuretic peptide receptor
    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
    pfam07701
    Location:801846
    HNOBA; Heme NO binding associated

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    35782086..35809731
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447558.1XP_024303326.1  atrial natriuretic peptide receptor 2 isoform X4

    Conserved Domains (4) summary
    smart00044
    Location:552736
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    cd14042
    Location:192519
    PK_GC-A_B; Pseudokinase domain of the membrane Guanylate Cyclase receptors, GC-A and GC-B
    pfam07701
    Location:528573
    HNOBA; Heme NO binding associated
    cl10011
    Location:192
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
  2. XM_024447556.1XP_024303324.1  atrial natriuretic peptide receptor 2 isoform X1

    Conserved Domains (4) summary
    smart00044
    Location:8811065
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    cd14042
    Location:521848
    PK_GC-A_B; Pseudokinase domain of the membrane Guanylate Cyclase receptors, GC-A and GC-B
    pfam07701
    Location:857902
    HNOBA; Heme NO binding associated
    cl10011
    Location:26421
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
  3. XM_024447557.1XP_024303325.1  atrial natriuretic peptide receptor 2 isoform X2

    Conserved Domains (4) summary
    smart00044
    Location:8781062
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    cd14042
    Location:518845
    PK_GC-A_B; Pseudokinase domain of the membrane Guanylate Cyclase receptors, GC-A and GC-B
    pfam07701
    Location:854899
    HNOBA; Heme NO binding associated
    cl10011
    Location:26421
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
  4. XM_024447561.1XP_024303329.1  atrial natriuretic peptide receptor 2 isoform X7

    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
  5. XM_024447560.1XP_024303328.1  atrial natriuretic peptide receptor 2 isoform X6

    Conserved Domains (3) summary
    smart00044
    Location:410594
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    cd14042
    Location:50377
    PK_GC-A_B; Pseudokinase domain of the membrane Guanylate Cyclase receptors, GC-A and GC-B
    pfam07701
    Location:386431
    HNOBA; Heme NO binding associated
  6. XM_024447559.1XP_024303327.1  atrial natriuretic peptide receptor 2 isoform X5

    Conserved Domains (3) summary
    smart00044
    Location:413597
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    cd14042
    Location:53380
    PK_GC-A_B; Pseudokinase domain of the membrane Guanylate Cyclase receptors, GC-A and GC-B
    pfam07701
    Location:389434
    HNOBA; Heme NO binding associated

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.
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