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

    Gene ID: 4883, updated on 23-Nov-2023

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NPR3 in Genome Data Viewer
    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_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15959 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15960 Neighboring gene SUB1 regulator of transcription Neighboring gene long intergenic non-protein coding RNA 2061 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:32653566-32654765 Neighboring gene Sharpr-MPRA regulatory region 158 Neighboring gene NPR3 intron CAGE-defined low expression enhancer Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:32767828-32769027 Neighboring gene uncharacterized LOC124900956 Neighboring gene uncharacterized LOC124900955 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:32933642-32934142 Neighboring gene long intergenic non-protein coding RNA 2120

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

    HIV-1 interactions

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ14054, MGC22189

    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
     

    General protein information

    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)

    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_028162.2 RefSeqGene

      Range
      27246..107645
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000908.4NP_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:54446
      PBP1_NPR_C_like; Ligand-binding domain of type C natriuretic peptide receptor
      cd12841
      Location:471506
      TM_EphA1; Transmembrane domain of Ephrin Receptor A1 Protein Tyrosine Kinase
      pfam01094
      Location:71422
      ANF_receptor; Receptor family ligand binding region
    2. NM_001204375.2NP_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:54446
      PBP1_NPR_C_like; Ligand-binding domain of type C natriuretic peptide receptor
      cd12841
      Location:476507
      TM_EphA1; Transmembrane domain of Ephrin Receptor A1 Protein Tyrosine Kinase
      pfam01094
      Location:71422
      ANF_receptor; Receptor family ligand binding region
    3. NM_001204376.2NP_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:39230
      Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
      cl25995
      Location:255290
      TM_EphA1; Transmembrane domain of Ephrin Receptor A1 Protein Tyrosine Kinase
    4. NM_001363652.2NP_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:39230
      Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
      cl25995
      Location:260291
      TM_EphA1; Transmembrane domain of Ephrin Receptor A1 Protein Tyrosine Kinase
    5. NM_001364458.2NP_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:17206
      Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
      cl25995
      Location:236267
      TM_EphA1; Transmembrane domain of Ephrin Receptor A1 Protein Tyrosine Kinase
    6. NM_001364460.2NP_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:41189
      Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
      cl25995
      Location:219250
      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

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      32690872..32791720
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      32804528..32905709
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. 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.