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

    Gene ID: 4882, updated on 23-Nov-2023

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NPR2 in Genome Data Viewer
    Location:
    9p13.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (35791591..35809731)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (35777317..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 ATAC-STARR-seq lymphoblastoid silent region 19876 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19877 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19878 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:35752887-35754086 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19879 Neighboring gene RGP1 homolog, RAB6A GEF complex partner 1 Neighboring gene microseminoprotein, prostate associated Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:35811777-35812333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19881 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28338 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19882 Neighboring gene sperm associated antigen 8 Neighboring gene histidine triad nucleotide binding protein 2 Neighboring gene family with sequence similarity 221 member B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28339

    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

    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 adenylate cyclase activity IBA
    Inferred from Biological aspect of Ancestor
    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

    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
    XP_054218985.1
    XP_054218986.1
    XP_054218987.1
    XP_054218988.1
    XP_054218989.1
    XP_054218990.1
    XP_054218991.1
    XP_054218992.1

    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
      UniProtKB/TrEMBL
      A0A8I5KSX8
      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
      B0ZBF2, B0ZBF3, D3DRP3, D3DRP4, O60871, P20594, Q4VAK7, Q5TCV2, Q8TA93, Q9UQ50
      UniProtKB/TrEMBL
      A0A8I5KSX8
      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: 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

    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
      35777317..35830398
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363013.1XP_054218988.1  atrial natriuretic peptide receptor 2 isoform X3

    2. XM_054363012.1XP_054218987.1  atrial natriuretic peptide receptor 2 isoform X3

    3. XM_054363015.1XP_054218990.1  atrial natriuretic peptide receptor 2 isoform X3

    4. XM_054363011.1XP_054218986.1  atrial natriuretic peptide receptor 2 isoform X3

    5. XM_054363014.1XP_054218989.1  atrial natriuretic peptide receptor 2 isoform X3

    6. XM_054363010.1XP_054218985.1  atrial natriuretic peptide receptor 2 isoform X3

    7. XM_054363016.1XP_054218991.1  atrial natriuretic peptide receptor 2 isoform X1

    8. XM_054363017.1XP_054218992.1  atrial natriuretic peptide receptor 2 isoform X2

    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.