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Aliases for NPR2 Gene

Aliases for NPR2 Gene

  • Natriuretic Peptide Receptor 2 2 3
  • Guanylate Cyclase B 2 3 4
  • ANPRB 3 4 6
  • Atrial Natriuretic Peptide Receptor Type B 3 4
  • EC 4.6.1.2 4 64
  • ANPR-B 3 4
  • ANP-B 3 4
  • NPR-B 3 4
  • AMDM 3 6
  • GC-B 3 4
  • Natriuretic Peptide Receptor B/Guanylate Cyclase B (Atrionatriuretic Peptide Receptor B) 3
  • Atrial Natriuretic Peptide B-Type Receptor 3
  • Acromesomelic Dysplasia, Maroteaux Type 2
  • Atrial Natriuretic Peptide Receptor 2 3
  • Atrionatriuretic Peptide Receptor B 2
  • Natriuretic Peptide Receptor B 2
  • GUCY2B 3
  • GUC2B 3
  • NPRBi 3
  • ANPb 3
  • ECDM 3
  • NPRB 3

External Ids for NPR2 Gene

Previous Symbols for NPR2 Gene

  • ANPRB
  • NPRB
  • AMDM

Summaries for NPR2 Gene

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 acromesomelic dysplasia, maroteaux type and acromesomelic dysplasia. Among its related pathways are CREB Pathway and Nanog in Mammalian ESC Pluripotency. GO annotations related to this gene include identical protein binding and receptor activity. An important paralog of this gene is ADCY5.

UniProtKB/Swiss-Prot for NPR2 Gene

  • 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.

Tocris 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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NPR2 Gene

Genomics for NPR2 Gene

Genomic Location for NPR2 Gene

Start:
35,754,654 bp from pter
End:
35,809,732 bp from pter
Size:
55,079 bases
Orientation:
Plus strand

Genomic View for NPR2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NPR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NPR2 Gene

Regulatory Elements for NPR2 Gene

Proteins for NPR2 Gene

  • Protein details for NPR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20594-ANPRB_HUMAN
    Recommended name:
    Atrial natriuretic peptide receptor 2
    Protein Accession:
    P20594
    Secondary Accessions:
    • B0ZBF2
    • B0ZBF3
    • D3DRP3
    • D3DRP4
    • O60871
    • Q4VAK7
    • Q5TCV2
    • Q8TA93
    • Q9UQ50

    Protein attributes for NPR2 Gene

    Size:
    1047 amino acids
    Molecular mass:
    117022 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for NPR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NPR2 Gene

Proteomics data for NPR2 Gene at MOPED

Post-translational modifications for NPR2 Gene

  • Phosphorylation of the protein kinase-like domain is required for full activation by CNP.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn24, Asn35, Asn161, Asn195, Asn244, Asn277, and Asn349

Other Protein References for NPR2 Gene

Domains for NPR2 Gene

Gene Families for NPR2 Gene

UniProtKB/Swiss-Prot:

ANPRB_HUMAN
Domain:
  • Contains 1 guanylate cyclase domain.:
    • P20594
  • Contains 1 protein kinase domain.:
    • P20594
Family:
  • Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.:
    • P20594
genes like me logo Genes that share domains with NPR2: view

Function for NPR2 Gene

Molecular function for NPR2 Gene

GENATLAS Biochemistry: natriuretic peptide,receptor B,strongly expressed in the brain,including the pituitary gland and potentially playing a role in neuroendocrine regulation
UniProtKB/Swiss-Prot CatalyticActivity: GTP = 3,5-cyclic GMP + diphosphate
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for NPR2 Gene

Gene Ontology (GO) - Molecular Function for NPR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004383 guanylate cyclase activity IDA 1672777
GO:0004672 protein kinase activity IEA --
GO:0004713 protein tyrosine kinase activity --
GO:0004872 receptor activity TAS 10082481
GO:0004888 transmembrane signaling receptor activity TAS 1327579
genes like me logo Genes that share ontologies with NPR2: view
genes like me logo Genes that share phenotypes with NPR2: view

Animal Models for NPR2 Gene

MGI Knock Outs for NPR2:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for NPR2 Gene

Localization for NPR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NPR2 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NPR2 Gene COMPARTMENTS Subcellular localization image for NPR2 gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 2
cytosol 1
extracellular 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for NPR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NPR2: view

Pathways for NPR2 Gene

genes like me logo Genes that share pathways with NPR2: view

Gene Ontology (GO) - Biological Process for NPR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IEA --
GO:0006182 cGMP biosynthetic process IDA 1672777
GO:0006468 protein phosphorylation IEA --
GO:0007165 signal transduction NAS 10082481
GO:0007166 cell surface receptor signaling pathway TAS 1327579
genes like me logo Genes that share ontologies with NPR2: view

Compounds for NPR2 Gene

(4) Tocris Compounds for NPR2 Gene

Compound Action Cas Number
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]
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]

(5) HMDB Compounds for NPR2 Gene

Compound Synonyms Cas Number PubMed IDs
Cyclic GMP
  • 3',5'-cyclic GMP
7665-99-8
Guanosine monophosphate
  • 5'-GMP
85-32-5
Guanosine triphosphate
  • 5'-GTP
86-01-1
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8

(2) Drugbank Compounds for NPR2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Erythrityl Tetranitrate
  • 1,2,3,4-Butanetetralyl tetranitrate
7297-25-8 target agonist
Nesiritide
  • BNP
124584-08-3 target

(4) IUPHAR Ligand for NPR2 Gene

Ligand Type Action Affinity Pubmed IDs
C-type natriuretic peptide Agonist Agonist
[Ser11](N-CNP,C-ANP)pBNP2-15 Antagonist Antagonist
[125I]CNP (human) None None
monoclonal antibody 3G12 Antagonist Antagonist

(12) Novoseek inferred chemical compound relationships for NPR2 Gene

Compound -log(P) Hits PubMed IDs
cgmp 79.3 23
guanylate 62.7 10
ionomycin 16.4 4
sodium nitroprusside 15.7 1
forskolin 14.2 1
genes like me logo Genes that share compounds with NPR2: view

Transcripts for NPR2 Gene

Unigene Clusters for NPR2 Gene

Natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NPR2 Gene

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:
SP6:
SP7:

Relevant External Links for NPR2 Gene

GeneLoc Exon Structure for
NPR2
ECgene alternative splicing isoforms for
NPR2

Expression for NPR2 Gene

mRNA expression in normal human tissues for NPR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NPR2 Gene

SOURCE GeneReport for Unigene cluster for NPR2 Gene Hs.78518

genes like me logo Genes that share expressions with NPR2: view

Orthologs for NPR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NPR2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NPR2 36
  • 99.71 (n)
  • 99.81 (a)
NPR2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 37
  • 99 (a)
OneToMany
NPR2 37
  • 97 (a)
OneToMany
dog
(Canis familiaris)
Mammalia NPR2 36
  • 94.87 (n)
  • 98.91 (a)
NPR2 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Npr2 36
  • 92.23 (n)
  • 98.66 (a)
Npr2 16
Npr2 37
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NPR2 37
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NPR2 37
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Npr2 36
  • 92.1 (n)
  • 98.57 (a)
chicken
(Gallus gallus)
Aves NPR2 36
  • 74.03 (n)
  • 80.23 (a)
NPR2 37
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NPR2 37
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.907 36
zebrafish
(Danio rerio)
Actinopterygii NPR2 37
  • 66 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003283 36
  • 53.44 (n)
  • 49.69 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31183 36
  • 54.45 (n)
  • 48.09 (a)
CG31183 37
  • 32 (a)
OneToMany
Gyc32E 38
  • 34 (a)
CG10738 38
  • 36 (a)
worm
(Caenorhabditis elegans)
Secernentea gcy-28 36
  • 51.52 (n)
  • 47.78 (a)
gcy-28 37
  • 35 (a)
OneToMany
gcy-19 38
  • 27 (a)
T01A4.1a 38
  • 57 (a)
T01A4.1b 38
  • 57 (a)
daf-11 38
  • 28 (a)
gcy-9 38
  • 27 (a)
gcy-22 38
  • 30 (a)
gcy-8 38
  • 27 (a)
gcy-12 38
  • 32 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13928 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 68 (a)
ManyToMany
-- 37
  • 45 (a)
ManyToMany
Species with no ortholog for NPR2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for NPR2 Gene

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

Paralogs for NPR2 Gene

Selected SIMAP similar genes for NPR2 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for NPR2 Gene

genes like me logo Genes that share paralogs with NPR2: view

Variants for NPR2 Gene

Sequence variations from dbSNP and Humsavar for NPR2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs5812 -- 35,802,586(+) GAATA(C/T)TGTCC reference, synonymous-codon
rs5813 -- 35,805,600(+) CTCAA(A/G)ATCAC reference, synonymous-codon
rs5815 -- 35,805,975(+) GACCT(C/G)AGCCC reference, synonymous-codon
rs5816 - 35,806,172(+) GGGCT(C/G)AGGAC reference, missense
rs1078081 -- 35,801,439(-) TGAAA(A/G)TTCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NPR2 Gene

Variant ID Type Subtype PubMed ID
dgv8168n71 CNV Gain 21882294
esv2399025 CNV Deletion 18987734
esv2571756 CNV Deletion 19546169
esv2900 CNV Deletion 18987735
esv2738411 CNV Deletion 23290073
esv1010658 CNV Deletion 20482838
nsv416447 CNV Loss 16902084

Relevant External Links for NPR2 Gene

HapMap Linkage Disequilibrium report
NPR2
Human Gene Mutation Database (HGMD)
NPR2

Disorders for NPR2 Gene

(1) OMIM Diseases for NPR2 Gene (108961)

UniProtKB/Swiss-Prot

ANPRB_HUMAN
  • 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. {ECO:0000269 PubMed:15146390}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epiphyseal chondrodysplasia, Miura type (ECDM) [MIM:615923]: An overgrowth syndrome characterized by tall stature, long hands and feet with arachnodactyly, macrodactyly of the great toes, scoliosis, coxa valga and slipped capital femoral epiphysis. {ECO:0000269 PubMed:22870295, ECO:0000269 PubMed:23827346, ECO:0000269 PubMed:24057292, ECO:0000269 PubMed:24259409}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for NPR2 Gene

(10) Novoseek inferred disease relationships for NPR2 Gene

Disease -log(P) Hits PubMed IDs
acromesomelic dysplasia, maroteaux type 93.9 4
dwarfism 66 3
heart failure 36.8 3
short stature 36 4
cardiac hypertrophy 35.9 1

Relevant External Links for NPR2

Genetic Association Database (GAD)
NPR2
Human Genome Epidemiology (HuGE) Navigator
NPR2
genes like me logo Genes that share disorders with NPR2: view

Publications for NPR2 Gene

  1. Structure of the type B human natriuretic peptide receptor gene and association of a novel microsatellite polymorphism with essential hypertension. (PMID: 10082481) Rehemudula D. … Ozawa Y. (Circ. Res. 1999) 3 4 23 49
  2. Selective activation of the B natriuretic peptide receptor by C-type natriuretic peptide (CNP). (PMID: 1672777) Koller K.J. … Goeddel D.V. (Science 1991) 3 4 23
  3. A C2077T polymorphism of the type B human natriuretic peptide receptor gene is not associated with myocardial infarction. (PMID: 11208455) Rahmutula D. … Ozawa Y. (Med. Sci. Monit. 2000) 3 23 49
  4. Systematic screening of type B human natriuretic peptide receptor gene polymorphisms and association with essential hypertension. (PMID: 11464256) Rahmutula D. … Ozawa Y. (J Hum Hypertens 2001) 3 23 49
  5. Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. (PMID: 15146390) Bartels C.F. … Warman M.L. (Am. J. Hum. Genet. 2004) 2 3 4

Products for NPR2 Gene

  • Addgene plasmids for NPR2

Sources for NPR2 Gene

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