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NPR2 Gene

protein-coding   GIFtS: 69
GCID: GC09P035792

Natriuretic Peptide Receptor 2

(Previous names: acromesomelic dysplasia, Maroteaux type, atrionatriuretic...)
(Previous symbols: ANPRB, NPRB, AMDM)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Natriuretic Peptide Receptor 21 2     Acromesomelic Dysplasia, Maroteaux Type1
ANPRB1 2 3 5     Atrionatriuretic Peptide Receptor B1
Guanylate Cyclase B1 2 3     Natriuretic Peptide Receptor B1
AMDM1 2 5     ANPb2
NPRB1 2     GUC2B2
Atrial Natriuretic Peptide Receptor Type B2 3     GUCY2B2
ANP-B2 3     NPRBi2
ANPR-B2 3     Atrial Natriuretic Peptide B-Type Receptor2
GC-B2 3     Atrial Natriuretic Peptide Receptor 22
NPR-B2 3     Natriuretic Peptide Receptor B/Guanylate Cyclase B (Atrionatriuretic
Peptide Receptor B)2
EC 4.6.1.23 8     

External Ids:    HGNC: 79441   Entrez Gene: 48822   Ensembl: ENSG000001598997   OMIM: 1089615   UniProtKB: P205943   

Export aliases for NPR2 gene to outside databases

Previous GC identifers: GC09P036104 GC09P035961 GC09P035782 GC09P035748


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NPR2 Gene:
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)

GeneCards Summary for NPR2 Gene:
NPR2 (natriuretic peptide receptor 2) is a protein-coding gene. Diseases associated with NPR2 include tall stature - scoliosis - macrodactyly of the great toes, and acromesomelic dysplasia. GO annotations related to this gene include receptor activity and identical protein binding. An important paralog of this gene is ADCY5.

UniProtKB/Swiss-Prot: ANPRB_HUMAN, P20594
Function: Receptor for the C-type natriuretic peptide NPPC/CNP hormone. Has guanylate cyclase activity upon
binding of its ligand. May play a role in the regulation of skeletal growth

summary for NPR2 Gene:
Natriuretic peptide (NP) receptors are single transmembrane catalytic receptors with intracellular guanylyl
cyclase activity. There are three isoforms of NP receptors; NPR1, NPR2 and NPR3, which have conserved
catalytic and regulatory domains and divergent ligand binding domains. Natruiretic peptide receptors bind
alpha-atrial natriuretic peptide, brain natriuretic peptide and type C-natriuretic peptide with varying
affinity and are found in the brain, vasculature and kidney. The main physiological role of NP receptors is
in homeostasis of body fluid volume.

Gene Wiki entry for NPR2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NT_008413.19  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NPR2 gene promoter:
         AhR   NF-1/L   NF-1   MAZR   GATA-3   Bach2   Arnt   COMP1   SEF-1 (1)   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNPR2 promoter sequence
   Search Chromatin IP Primers for NPR2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NPR2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9p21-p12   Ensembl cytogenetic band:  9p13.3   HGNC cytogenetic band: 9p21-p12

NPR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NPR2 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P035792:  view genomic region     (about GC identifiers)

Start:
35,792,151 bp from pter      End:
35,809,729 bp from pter
Size:
17,579 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ANPRB_HUMAN, P20594 (See protein sequence)
Recommended Name: Atrial natriuretic peptide receptor 2 precursor  
Size: 1047 amino acids; 117022 Da
Secondary accessions: B0ZBF2 B0ZBF3 D3DRP3 D3DRP4 O60871 Q4VAK7 Q5TCV2 Q8TA93 Q9UQ50
Alternative splicing: 2 isoforms:  P20594-1   P20594-2   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for NPR2: NX_P20594

Explore proteomics data for NPR2 at MOPED

Post-translational modifications: 

  • Phosphorylation of the protein kinase-like domain is required for full activation by CNP (By similarity)1
  • Glycosylation2 at Asn24, Asn35, Asn161, Asn195, Asn244, Asn277, Asn349
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for NPR2 (P20594) (see all 27)
     QLRLRIG  TAHGKYQ  LLNDLYT  FIGACID 


    See NPR2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003986.2  
    ENSEMBL proteins: 
     ENSP00000341083   ENSP00000399204   ENSP00000393029   ENSP00000402902  

    NPR2 Human Recombinant Protein Products:

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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for NPR2
    OriGene Custom MassSpec
    OriGene Custom Protein Services for NPR2
    GenScript Custom Purified and Recombinant Proteins Services for NPR2
    Novus Biologicals NPR2 Proteins
    Novus Biologicals NPR2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NPR2

    NPR2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
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    OriGene Custom Antibody Services for NPR2
    Novus Biologicals NPR2 Antibodies
    Abcam antibodies for NPR2
    Cloud-Clone Corp. Antibodies for NPR2
    ThermoFisher Antibodies for NPR2
    LSBio Antibodies in human, mouse, rat for NPR2

    NPR2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NPR2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NPR2
    Cloud-Clone Corp. CLIAs for NPR2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: NPR-B
    Natriuretic peptide receptor family

    Selected InterPro protein domains (see all 8):
     IPR001054 A/G_cyclase
     IPR018297 A/G_cyclase_CS
     IPR028082 Peripla_BP_I
     IPR001245 Ser-Thr/Tyr_kinase_cat_dom
     IPR011009 Kinase-like_dom

    Graphical View of Domain Structure for InterPro Entry P20594

    ProtoNet protein and cluster: P20594

    2 Blocks protein domains:
    IPB001170 Natriuretic peptide receptor
    IPB001828 Extracellular ligand-binding receptor


    UniProtKB/Swiss-Prot: ANPRB_HUMAN, P20594
    Similarity: Belongs to the adenylyl cyclase class-4/guanylyl cyclase family
    Similarity: Contains 1 guanylate cyclase domain
    Similarity: Contains 1 protein kinase domain


    NPR2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ANPRB_HUMAN, P20594
    Function: Receptor for the C-type natriuretic peptide NPPC/CNP hormone. Has guanylate cyclase activity upon
    binding of its ligand. May play a role in the regulation of skeletal growth
    Catalytic activity: GTP = 3',5'-cyclic GMP + diphosphate

         Genatlas biochemistry entry for NPR2:
    natriuretic peptide,receptor B,strongly expressed in the brain,including the pituitary gland and potentially
    playing a role in neuroendocrine regulation

         Enzyme Number (IUBMB): EC 4.6.1.21 2

         Gene Ontology (GO): Selected molecular function terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004383guanylate cyclase activity IDA1672777
    GO:0004672protein kinase activity IEA--
    GO:0004713protein tyrosine kinase activity ----
    GO:0004872receptor activity TAS10082481
    GO:0004888transmembrane signaling receptor activity TAS1327579
         
    NPR2 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for NPR2:
     Decreased Salmonella enterica   Decreased substrate adherent c  Increased cell death in DLD-1   Synthetic lethal with Ras 

         Selected MGI mutant phenotypes (inferred from 6 alleles(MGI details for Npr2) (see all 17):
     behavior/neurological  cardiovascular system  craniofacial  digestive/alimentary  endocrine/exocrine gland 
     growth/size/body  hematopoietic system  homeostasis/metabolism  immune system  limbs/digits/tail 
     mortality/aging  muscle  nervous system  no phenotypic analysis  reproductive system 

    NPR2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Npr2tm1Gar for NPR2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NPR2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NPR2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NPR2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NPR2

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat NPR2 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate NPR2:
    hsa-miR-558 hsa-miR-3145-3p hsa-miR-29b-1*
    SwitchGear 3'UTR luciferase reporter plasmidNPR2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NPR2
    Predesigned siRNA for gene silencing in human, mouse, rat NPR2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NPR2

    Clone
    Products:
         
    OriGene clones in human, mouse for NPR2 (see all 6)
    OriGene ORF clones in mouse, rat for NPR2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NPR2 (NM_003995)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NPR2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPR2

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for NPR2
    Browse ESI BIO Cell Lines and PureStem Progenitors for NPR2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPR2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ANPRB_HUMAN, P20594: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    endoplasmic reticulum2
    cytosol1
    extracellular1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0016021integral component of membrane IEA--

    NPR2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NPR2 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1G-Beta Gamma Signaling
    CRHR Pathway0.44
    Relaxin Pathway0.37
    2Sweet Taste Signaling
    Cellular Effects of Sildenafil0.46
    Sperm Motility0.37
    3Oxytocin signaling pathway
    Oxytocin signaling pathway0.32
    Vascular smooth muscle contraction0.32
    4CREB Pathway
    Intracellular Calcium Signaling0.50
    5Nanog in Mammalian ESC Pluripotency
    eNOS Signaling0.48

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for NPR2 (see all 9)
        Sertoli-Sertoli Cell Junction Dynamics
    Relaxin Pathway
    Intracellular Calcium Signaling
    Visual Cycle in Retinal Rods
    CRHR Pathway


    3 Kegg Pathways  (Kegg details for NPR2):
        Purine metabolism
    Vascular smooth muscle contraction
    Oxytocin signaling pathway


    NPR2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including NPR2: 
              G Protein Coupled Receptors 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NPR2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NPR2 (P205943 ENSP000003410834) via UniProtKB, MINT, STRING, and/or I2D (see all 90)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NPPCP235823, ENSP000002954404I2D: score=2 STRING: ENSP00000295440
    NPPAP011603, ENSP000003656634I2D: score=1 STRING: ENSP00000365663
    NPPBP168603, ENSP000003656514I2D: score=1 STRING: ENSP00000365651
    ITPAENSP000003694564STRING: ENSP00000369456
    PDE11AENSP000002860634STRING: ENSP00000286063
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001503ossification IEA--
    GO:0006182cGMP biosynthetic process IDA1672777
    GO:0006468protein phosphorylation ----
    GO:0007165signal transduction NAS10082481
    GO:0007166cell surface receptor signaling pathway TAS1327579

    NPR2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for NPR2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Brain natriuretic peptide (1-32) (human)Endogenous peptide agonist at ANP receptor A (NPR1)[124584-08-3]
    C-type natriuretic peptide (1-22) (human, rat, swine) Endogenous peptide agonist at NPR2[127869-51-6]
    Atrial natriuretic factor (1-28) (human, porcine) Endogenous peptide regulating blood pressure[91917-63-4]
    Atrial natriuretic factor (1-28) (rat)Endogenous peptide regulating blood pressure[88898-17-3]

    5 HMDB Compounds for NPR2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic GMP3',5'-cyclic GMP (see all 13)7665-99-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    2 DrugBank Compounds for NPR2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Erythrityl Tetranitrate1,2,3,4-Butanetetralyl tetranitrate (see all 13)7297-25-8targetagonist19406636 17139284 17016423
    NesiritideBNP (see all 3)124584-08-3target----

    4 IUPHAR Ligands for NPR2 (NPR-B)    About this table
    LigandTypeActionAffinityPubmed IDs
    C-type natriuretic peptide
    AgonistAgonist1309330
    [Ser11](N-CNP,C-ANP)pBNP2-15
    AntagonistAntagonist15652659
    [125I]CNP (human)
    NoneNone--
    monoclonal antibody 3G12
    AntagonistAntagonist7876238

    Selected Novoseek inferred chemical compound relationships for NPR2 gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cgmp 79.3 35 14691198 (3), 15371450 (2), 8613249 (1), 9950772 (1) (see all 20)
    guanylate 62.7 12 18472099 (1), 9361777 (1), 18664174 (1), 8660352 (1) (see all 10)
    ionomycin 16.4 4 16005434 (3), 12196532 (1)
    sodium nitroprusside 15.7 1 9375582 (1)
    forskolin 14.2 2 15149737 (1)
    calcium 0.329 10 16005434 (3), 15371450 (2), 12196532 (1)
    serine 0.269 2 9485390 (1), 10915802 (1)
    atp 0 2 17848634 (1), 15911610 (1)
    nitric oxide 0 1 9361777 (1)
    threonine 0 1 9485390 (1)



    NPR2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NPR2 gene (2 alternative transcripts): 
    NM_003995.3  NM_000907.2  

    Unigene Cluster for NPR2:

    Natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)
    Hs.78518  [show with all ESTs]
    Unigene Representative Sequence: L13436
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000342694(uc003zyd.3) ENST00000464810(uc010mlb.3) ENST00000421267
    ENST00000447210 ENST00000448821 ENST00000469249
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat NPR2 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate NPR2:
    hsa-miR-558 hsa-miR-3145-3p hsa-miR-29b-1*
    SwitchGear 3'UTR luciferase reporter plasmidNPR2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for NPR2
    Predesigned siRNA for gene silencing in human, mouse, rat NPR2
    Clone
    Products:
         
    OriGene clones in human, mouse for NPR2 (see all 6)
    OriGene ORF clones in mouse, rat for NPR2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NPR2 (NM_003995)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NPR2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPR2
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for NPR2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NPR2
      QuantiTect SYBR Green Assays in human, mouse, rat NPR2
      QuantiFast Probe-based Assays in human, mouse, rat NPR2

    Additional mRNA sequence: 

    BC023017.1 L13436.1 

    7 DOTS entries:

    DT.215817  DT.100022874  DT.100659387  DT.100816353  DT.100816355  DT.92426519  DT.100022873 

    Selected AceView cDNA sequences (see all 126):

    BQ446138 BF112084 BP871636 F10387 BQ186623 BU957197 NM_000907 AI090222 
    BM719471 BQ184647 AA314498 AW172859 AI274470 BM718802 R54901 CA397959 
    F04038 BQ015978 BM682796 AI925370 BM677353 R54893 CA397960 CD513723 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NPR2 (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c · 13d ^ 14 ^ 15 ^ 16 ^ 17 ^ 18
    SP1:                                                                                                                                                      
    SP2:                                                                                            -                                                         
    SP3:                                                                                                                                                      
    SP4:                                                                                                                                                      
    SP5:                                                                                                                                                      


    ECgene alternative splicing isoforms for NPR2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    NPR2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTGCACACA
    NPR2 Expression
    About this image


    NPR2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Cerebral Cortex
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             Zeugopod Long Bone
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Dermis (Integumentary System)    fully expand to see all 2 entries
             Zigzag Dermal Papilla Cells Dermal Papilla
    NPR2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NPR2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.78518
        Pathway & Disease-focused RT2 Profiler PCR Array including NPR2: 
              G Protein Coupled Receptors 384HT in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for NPR2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Npr21 , 5 natriuretic peptide receptor 21, 5 92.23(n)1
    98.66(a)1
      4 (23.05 cM)5
    2301031  NM_173788.31  NP_776149.11 
     436319355 
    chicken
    (Gallus gallus)
    Aves NPR21 natriuretic peptide receptor B/guanylate cyclase B more 74.03(n)
    80.23(a)
      100859339  XM_004937145.1  XP_004937202.1 
    lizard
    (Anolis carolinensis)
    Reptilia NPR26
    natriuretic peptide receptor B/guanylate cyclase B...
    80(a)
    1 ↔ 1
    GL344709.1(991-23105)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.9072 Xenopus laevis XGC-2 mRNA for guanylyl cyclase-2, complete more 78.06(n)    AB025112.1 
    zebrafish
    (Danio rerio)
    Actinopterygii NPR26
    natriuretic peptide receptor B/guanylate cyclase B...
    66(a)
    1 ↔ 1
    5(62785069-62862175) ENSDARG00000011390
    fruit fly
    (Drosophila melanogaster)
    Insecta CG107383
    CG311831
    signal transduction receptor guanylate
    cyclase3
    CG311831
    36(a)
    (best of 2)3
    54.45(n)1
    48.09(a)1
      70B13
    419271  NM_142248.21  NP_650505.21 
    worm
    (Caenorhabditis elegans)
    Secernentea T01A4.1b3
    gcy-281
    guanylyl cyclase3
    gcy-281
    57(a)
    (best of 8)3
    51.52(n)1
    47.78(a)1
      I(4502610-4507720)3
    1720511  NM_001262699.11  NP_001249628.11 


    ENSEMBL Gene Tree for NPR2 (if available)
    TreeFam Gene Tree for NPR2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NPR2 gene
    ADCY52  ADCY92  ADCY22  GUCY2D2  GUCY1B32  ADCY62  GUCY2C2  GUCY1A32  
    ADCY12  NPR12  ADCY42  ADCY82  GUCY2F2  GUCY1A22  ADCY72  ADCY32  
    7 SIMAP similar genes for NPR2 using alignment to 5 protein entries:     ANPRB_HUMAN (see all proteins):
    NPR1    GUCY1A3    GUCY1B3    GUCY2C    GUCY2F    GUCY2D
    NPRC

    NPR2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for NPR2
    PGOHUM00000238626


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NPR2 (see all 478)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289315811,2,,4
    CAcromesomelic dysplasia, Maroteaux type (AMDM)4 pathogenic135760370(+) TGCTGA/CCAGAA 2 T P mis1 ese30--------
    rs289315821,2,,4
    CAcromesomelic dysplasia, Maroteaux type (AMDM)4 pathogenic135760619(+) CCCACG/TGGCGC 2 G W mis1 ese30--------
    rs289294791,2,,4
    CAcromesomelic dysplasia, Maroteaux type (AMDM)4 pathogenic135760804(+) ACAGAA/TGACCG 2 E D mis1 ese30--------
    VAR_0225904
    Acromesomelic dysplasia, Maroteaux type (AMDM)4--see VAR_0225902 Y C mis40--------
    VAR_0225864
    Acromesomelic dysplasia, Maroteaux type (AMDM)4--see VAR_0225862 T M mis40--------
    VAR_0225934
    Acromesomelic dysplasia, Maroteaux type (AMDM)4--see VAR_0225932 G A mis40--------
    VAR_0225894
    Acromesomelic dysplasia, Maroteaux type (AMDM)4--see VAR_0225892 G E mis40--------
    VAR_0225884
    Acromesomelic dysplasia, Maroteaux type (AMDM)4--see VAR_0225882 A T mis40--------
    VAR_0225914
    Acromesomelic dysplasia, Maroteaux type (AMDM)4--see VAR_0225912 R W mis40--------
    VAR_0225924
    Acromesomelic dysplasia, Maroteaux type (AMDM)4--see VAR_0225922 R C mis40--------

    HapMap Linkage Disequilibrium report for NPR2 (35792151 - 35809729 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for NPR2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1010658CNV Deletion20482838
    esv2571756CNV Deletion19546169
    esv2900CNV Deletion18987735
    esv2399025CNV Deletion18987734
    esv2738411CNV Deletion23290073
    nsv416447CNV Loss16902084
    dgv8168n71CNV Gain21882294

    Human Gene Mutation Database (HGMD): NPR2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NPR2
    DNA2.0 Custom Variant and Variant Library Synthesis for NPR2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 108961   
    OMIM disorders: 602875  
    UniProtKB/Swiss-Prot: ANPRB_HUMAN, P20594
  • Acromesomelic dysplasia, Maroteaux type (AMDM) [MIM:602875]: An autosomal recessive acromesomelic
    chondrodysplasia. Acromesomelic chondrodysplasias are rare hereditary skeletal disorders characterized by short
    stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal
    to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like
    fingers). AMDM is characterized by axial skeletal involvement with wedging of vertebral bodies. In AMDM all
    skeletal elements are present but show abnormal rates of linear growth. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for NPR2 (see all 28):    
    About MalaCards
    tall stature - scoliosis - macrodactyly of the great toes    acromesomelic dysplasia    acromesomelic dysplasia, maroteaux type    renovascular hypertension
    aortic valve stenosis    dwarfism    osteochondrodysplasia    short stature
    essential hypertension    brachydactyly    chondrodysplasia    hypertension
    dilated cardiomyopathy    pituitary adenoma    vascular disease    myocardial infarction
    cerebritis    adenoma    choroiditis    hypoxia

    1 disease from the University of Copenhagen DISEASES database for NPR2:
    Osteochondrodysplasia

    NPR2 for disorders           About GeneDecksing

    10 Novoseek inferred disease relationships for NPR2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acromesomelic dysplasia, maroteaux type 93.9 4 17652215 (1), 16291870 (1), 16384845 (1), 16716628 (1)
    dwarfism 66 3 16291870 (1), 16716628 (1), 18945719 (1)
    heart failure 36.8 3 11511425 (1), 16291870 (1), 18848850 (1)
    short stature 36 6 16384845 (3), 16716628 (1)
    cardiac hypertrophy 35.9 1 17429599 (1)
    essential hypertension 30.2 3 11464256 (2), 10082481 (1)
    heart failure congestive 25.9 1 8760130 (1)
    cardiovascular diseases 0 1 11464256 (1)
    hypertension pulmonary 0 1 15911074 (1)
    myocardial infarction 0 1 11208455 (1)

    Genetic Association Database (GAD): NPR2
    Human Genome Epidemiology (HuGE) Navigator: NPR2 (8 documents)

    Export disorders for NPR2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NPR2 gene, integrated from 10 sources (see all 164):
    (articles sorted by number of sources associating them with NPR2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure of the type B human natriuretic peptide receptor gene and association of a novel microsatellite polymorphism with essential hypertension. (PubMed id 10082481)1, 2, 4, 9 Rehemudula D.... Ozawa Y. (Circ. Res. 1999)
    2. Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. (PubMed id 15146390)1, 2, 3 Bartels C.F....Warman M.L. (Am. J. Hum. Genet. 2004)
    3. Systematic screening of type B human natriuretic peptide receptor gene polymorphisms and association with essential hypertension. (PubMed id 11464256)1, 4, 9 Rahmutula D....Ozawa Y. (J Hum Hypertens 2001)
    4. Selective activation of the B natriuretic peptide receptor by C-type natriuretic peptide (CNP). (PubMed id 1672777)1, 2, 9 Koller K.J.... Goeddel D.V. (Science 1991)
    5. A C2077T polymorphism of the type B human natriuretic peptide receptor gene is not associated with myocardial infarction. (PubMed id 11208455)1, 4, 9 Rahmutula D....Ozawa Y. (Med. Sci. Monit. 2000)
    6. Natriuretic peptide system gene variants are associated with ventricular dysfunction after coronary artery bypass grafting. (PubMed id 19326473)1, 4, 9 Fox A.A....Body S.C. (Anesthesiology 2009)
    7. Extracellular domain-IgG fusion proteins for three human natriuretic peptide receptors. Hormone pharmacology and application to solid phase screening of synthetic peptide antisera. (PubMed id 1660465)1, 2, 9 Bennett B.D.... Lowe D.G. (J. Biol. Chem. 1991)
    8. Mass spectrometric identification of phosphorylation sites in guanylyl cyclase A and B. (PubMed id 20977274)1, 2 Yoder A.R.... Potter L.R. (Biochemistry 2010)
    9. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    10. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4882 HGNC: 7944 AceView: NPR2 Ensembl:ENSG00000159899 euGenes: HUgn4882
    ECgene: NPR2 Kegg: 4882 H-InvDB: NPR2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NPR2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NPR2 gene:
    Search GeneIP for patents involving NPR2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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