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Aliases for NPR2 Gene

Aliases for NPR2 Gene

  • Natriuretic Peptide Receptor 2 2 3 5
  • Guanylate Cyclase B 2 3 4
  • Atrial Natriuretic Peptide Receptor Type B 3 4
  • EC 4.6.1.2 4 63
  • ANPR-B 3 4
  • ANPRB 3 4
  • ANP-B 3 4
  • NPR-B 3 4
  • 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
  • Atrionatriuretic Peptide Receptor B 2
  • Natriuretic Peptide Receptor B 2
  • GUCY2B 3
  • GUC2B 3
  • NPRBi 3
  • ANPb 3
  • ECDM 3
  • SNSK 3
  • AMDM 3
  • NPRB 3

External Ids for NPR2 Gene

Previous HGNC Symbols for NPR2 Gene

  • ANPRB
  • NPRB
  • AMDM

Previous GeneCards Identifiers for NPR2 Gene

  • GC09P036104
  • GC09P035961
  • GC09P035782
  • GC09P035792
  • GC09P035748

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 epiphyseal chondrodysplasia, miura type. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Cardiac conduction. GO annotations related to this gene include identical protein binding and protein kinase activity. An important paralog of this gene is GUCY1A3.

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; NPR1-3, which have conserved catalytic and regulatory domains and divergent ligand binding domains.

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

Regulatory Elements for NPR2 Gene

Genomic Location for NPR2 Gene

Chromosome:
9
Start:
35,752,945 bp from pter
End:
35,809,732 bp from pter
Size:
56,788 bases
Orientation:
Plus strand

Genomic View for NPR2 Gene

Genes around NPR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NPR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NPR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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.
  • Glycosylation at Asn 24, Asn 35, Asn 161, Asn 195, Asn 244, Asn 277, and Asn 349
  • Modification sites at PhosphoSitePlus

Other Protein References for NPR2 Gene

Domains & Families for NPR2 Gene

Gene Families for NPR2 Gene

Suggested Antigen Peptide Sequences for NPR2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P20594

UniProtKB/Swiss-Prot:

ANPRB_HUMAN :
  • Contains 1 guanylate cyclase domain.
  • Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
Domain:
  • Contains 1 guanylate cyclase domain.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
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:0004016 NOT adenylate cyclase activity IBA --
GO:0004672 protein kinase activity IEA --
GO:0004888 transmembrane signaling receptor activity TAS 1327579
GO:0016849 phosphorus-oxygen lyase activity IEA --
genes like me logo Genes that share ontologies with NPR2: view
genes like me logo Genes that share phenotypes with NPR2: view

Human Phenotype Ontology for NPR2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NPR2 Gene

MGI Knock Outs for NPR2:

Animal Model Products

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

Localization for NPR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NPR2 Gene

Cell 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 5
cytosol 4
endoplasmic reticulum 2
extracellular 2
nucleus 2
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for NPR2 Gene

Pathways & Interactions 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:0006182 cGMP biosynthetic process IEA,IDA 1672777
GO:0007165 signal transduction NAS 10082481
GO:0008217 regulation of blood pressure TAS 10082481
GO:0009190 cyclic nucleotide biosynthetic process IEA --
GO:0097011 cellular response to granulocyte macrophage colony-stimulating factor stimulus IEP 14687666
genes like me logo Genes that share ontologies with NPR2: view

No data available for SIGNOR curated interactions for NPR2 Gene

Drugs & Compounds for NPR2 Gene

(20) Drugs for NPR2 Gene - From: Novoseek, HMDB, IUPHAR, DGIdb, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Erythrityl Tetranitrate Approved Pharma stimulator, Target, agonist 0
Nesiritide Approved, Investigational Pharma binder, Target 0
Cyclic GMP Experimental Pharma 0
Diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0

(10) Additional Compounds for NPR2 Gene - From: IUPHAR, Tocris, Novoseek, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
monoclonal antibody 3G12
Antagonist
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
AP 811
124833-45-0
Atrial natriuretic factor (1-28) (human, porcine)
91917-63-4
Atrial natriuretic factor (1-28) (rat)
88898-17-3
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

Protein differential expression in normal tissues from HIPED for NPR2 Gene

This gene is overexpressed in Liver (66.2).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with NPR2: view

Protein tissue co-expression partners for NPR2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NPR2 Gene

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
  • 100 (a)
OneToOne
NPR2 35
  • 99.71 (n)
  • 99.81 (a)
cow
(Bos Taurus)
Mammalia -- 36
  • 99 (a)
OneToMany
NPR2 36
  • 97 (a)
OneToMany
dog
(Canis familiaris)
Mammalia NPR2 36
  • 95 (a)
OneToOne
NPR2 35
  • 94.87 (n)
  • 98.91 (a)
mouse
(Mus musculus)
Mammalia Npr2 36
  • 99 (a)
OneToOne
Npr2 16
Npr2 35
  • 92.23 (n)
  • 98.66 (a)
oppossum
(Monodelphis domestica)
Mammalia NPR2 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NPR2 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Npr2 35
  • 92.1 (n)
  • 98.57 (a)
chicken
(Gallus gallus)
Aves NPR2 35
  • 74.03 (n)
  • 80.23 (a)
NPR2 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NPR2 36
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.907 35
zebrafish
(Danio rerio)
Actinopterygii NPR2 36
  • 66 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003283 35
  • 53.44 (n)
  • 49.69 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31183 35
  • 54.45 (n)
  • 48.09 (a)
CG10738 37
  • 36 (a)
Gyc32E 37
  • 34 (a)
CG31183 36
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gcy-28 36
  • 35 (a)
OneToMany
gcy-28 35
  • 51.52 (n)
  • 47.78 (a)
daf-11 37
  • 28 (a)
gcy-12 37
  • 32 (a)
gcy-19 37
  • 27 (a)
gcy-22 37
  • 30 (a)
gcy-8 37
  • 27 (a)
gcy-9 37
  • 27 (a)
T01A4.1a 37
  • 57 (a)
T01A4.1b 37
  • 57 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13928 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 68 (a)
ManyToMany
-- 36
  • 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

Paralogs for NPR2 Gene

(7) 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
rs5816 - 35,806,172(+) GGGCT(C/G)AGGAC reference, missense
rs28931581 Acromesomelic dysplasia, Maroteaux type (AMDM) 35,792,502(+) TGCTG(A/C)CAGAA intron-variant, reference, missense
rs28931582 Acromesomelic dysplasia, Maroteaux type (AMDM) 35,792,751(+) CCCAC(G/T)GGCGC intron-variant, reference, missense
rs28929479 Acromesomelic dysplasia, Maroteaux type (AMDM) 35,792,936(+) ACAGA(A/T)GACCG intron-variant, reference, missense
VAR_022586 Acromesomelic dysplasia, Maroteaux type (AMDM)

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

Variation tolerance for NPR2 Gene

Residual Variation Intolerance Score: 3.01% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.44; 28.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NPR2 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NPR2 Gene

Disorders for NPR2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for NPR2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
acromesomelic dysplasia, maroteaux type
  • acromesomelic dysplasia maroteaux type
epiphyseal chondrodysplasia, miura type
  • ecdm
short stature with nonspecific skeletal abnormalities
  • short stature with non-specific skeletal abnormalities
acromesomelic dysplasia
  • acromesomelic dwarfism
tall stature-scoliosis-macrodactyly of the great toes syndrome
  • tall stature-scoliosis-macrodactyly of the halluces syndrome
- elite association - COSMIC cancer census association via MalaCards
Search NPR2 in MalaCards View complete list of genes associated with diseases

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.
  • Short stature with non-specific skeletal abnormalities (SNSK) [MIM:616255]: A condition characterized by short stature, defined as a height less than 2 SD below normal, and no endocrine abnormalities. {ECO:0000269 PubMed:24001744, ECO:0000269 PubMed:24471569}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NPR2

Genetic Association Database (GAD)
NPR2
Human Genome Epidemiology (HuGE) Navigator
NPR2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NPR2
genes like me logo Genes that share disorders with NPR2: view

No data available for Genatlas for NPR2 Gene

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 48 67
  2. Visinin-like protein 1 regulates natriuretic peptide receptor B in the heart. (PMID: 20079378) Buttgereit J. … Bader M. (Regul. Pept. 2010) 3 23
  3. Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux. (PMID: 18945719) Hume A.N. … Ali B.R. (Hum. Mol. Genet. 2009) 3 23
  4. NO donors. Part 18: Bioactive metabolites of GTN and PETN--synthesis and vasorelaxant properties. (PMID: 19406636) Lange K. … Lehmann J. (Bioorg. Med. Chem. Lett. 2009) 25 26
  5. Natriuretic peptide receptor B signaling in the cardiovascular system: protection from cardiac hypertrophy. (PMID: 17429599) Pagel-Langenickel I. … Langenickel T.H. (J. Mol. Med. 2007) 3 23

Products for NPR2 Gene

Sources for NPR2 Gene

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