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NPR2 (natriuretic peptide receptor 2)

Identity

Alias_namesANPRB
NPRB
AMDM
acromesomelic dysplasia, Maroteaux type
atrionatriuretic peptide receptor B
natriuretic peptide receptor B
Alias_symbol (synonym)GUCY2B
ANPb
Other aliasECDM
GUC2B
NPRBi
SNSK
HGNC (Hugo) NPR2
LocusID (NCBI) 4882
Atlas_Id 43383
Location 9p13.3  [Link to chromosome band 9p13]
Location_base_pair Starts at 35792406 and ends at 35809728 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CASK (Xp11.4) / NPR2 (9p13.3)NPR2 (9p13.3) / ATHL1 (11p15.5)NPR2 (9p13.3) / RASAL2 (1q25.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)NPR2   7944
Cards
Entrez_Gene (NCBI)NPR2  4882  natriuretic peptide receptor 2
AliasesAMDM; ANPRB; ANPb; ECDM; 
GUC2B; GUCY2B; NPRB; NPRBi; SNSK
GeneCards (Weizmann)NPR2
Ensembl hg19 (Hinxton)ENSG00000159899 [Gene_View]  chr9:35792406-35809728 [Contig_View]  NPR2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000159899 [Gene_View]  chr9:35792406-35809728 [Contig_View]  NPR2 [Vega]
ICGC DataPortalENSG00000159899
TCGA cBioPortalNPR2
AceView (NCBI)NPR2
Genatlas (Paris)NPR2
WikiGenes4882
SOURCE (Princeton)NPR2
Genetics Home Reference (NIH)NPR2
Genomic and cartography
GoldenPath hg19 (UCSC)NPR2  -     chr9:35792406-35809728 +  9p13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NPR2  -     9p13.3   [Description]    (hg38-Dec_2013)
EnsemblNPR2 - 9p13.3 [CytoView hg19]  NPR2 - 9p13.3 [CytoView hg38]
Mapping of homologs : NCBINPR2 [Mapview hg19]  NPR2 [Mapview hg38]
OMIM108961   602875   615923   616255   
Gene and transcription
Genbank (Entrez)AJ005282 BC023017 BC166642 BQ446138 HG501990
RefSeq transcript (Entrez)NM_000907 NM_003995
RefSeq genomic (Entrez)NC_000009 NC_018920 NG_009249 NT_008413 NW_004929342
Consensus coding sequences : CCDS (NCBI)NPR2
Cluster EST : UnigeneHs.78518 [ NCBI ]
CGAP (NCI)Hs.78518
Alternative Splicing GalleryENSG00000159899
Gene ExpressionNPR2 [ NCBI-GEO ]   NPR2 [ EBI - ARRAY_EXPRESS ]   NPR2 [ SEEK ]   NPR2 [ MEM ]
Gene Expression Viewer (FireBrowse)NPR2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4882
GTEX Portal (Tissue expression)NPR2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP20594   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP20594  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP20594
Splice isoforms : SwissVarP20594
Catalytic activity : Enzyme4.6.1.2 [ Enzyme-Expasy ]   4.6.1.24.6.1.2 [ IntEnz-EBI ]   4.6.1.2 [ BRENDA ]   4.6.1.2 [ KEGG ]   
PhosPhoSitePlusP20594
Domaine pattern : Prosite (Expaxy)ANF_RECEPTORS (PS00458)    GUANYLATE_CYCLASE_1 (PS00452)    GUANYLATE_CYCLASE_2 (PS50125)    PROTEIN_KINASE_DOM (PS50011)   
Domains : Interpro (EBI)A/G_cyclase    A/G_cyclase_CS    ANF_lig-bd_rcpt    ANPR/GUC    Kinase-like_dom    Nucleotide_cyclase    Peripla_BP_I    Prot_kinase_dom    Ser-Thr/Tyr_kinase_cat_dom   
Domain families : Pfam (Sanger)ANF_receptor (PF01094)    Guanylate_cyc (PF00211)    Pkinase_Tyr (PF07714)   
Domain families : Pfam (NCBI)pfam01094    pfam00211    pfam07714   
Domain families : Smart (EMBL)CYCc (SM00044)  
Conserved Domain (NCBI)NPR2
DMDM Disease mutations4882
Blocks (Seattle)NPR2
SuperfamilyP20594
Human Protein AtlasENSG00000159899
Peptide AtlasP20594
HPRD00166
IPIIPI00024685   IPI00219001   IPI00640429   IPI00924694   IPI00924924   
Protein Interaction databases
DIP (DOE-UCLA)P20594
IntAct (EBI)P20594
FunCoupENSG00000159899
BioGRIDNPR2
STRING (EMBL)NPR2
ZODIACNPR2
Ontologies - Pathways
QuickGOP20594
Ontology : AmiGOossification  adenylate cyclase activity  guanylate cyclase activity  protein kinase activity  receptor activity  transmembrane signaling receptor activity  ATP binding  GTP binding  plasma membrane  plasma membrane  cGMP biosynthetic process  protein phosphorylation  signal transduction  cell surface receptor signaling pathway  receptor guanylyl cyclase signaling pathway  guanylate cyclase complex, soluble  regulation of blood pressure  integral component of membrane  natriuretic peptide receptor activity  peptide hormone binding  intracellular signal transduction  hormone binding  identical protein binding  single organism reproductive process  negative regulation of meiotic cell cycle  bone development  cellular response to granulocyte macrophage colony-stimulating factor stimulus  negative regulation of oocyte maturation  regulation of cardiac conduction  
Ontology : EGO-EBIossification  adenylate cyclase activity  guanylate cyclase activity  protein kinase activity  receptor activity  transmembrane signaling receptor activity  ATP binding  GTP binding  plasma membrane  plasma membrane  cGMP biosynthetic process  protein phosphorylation  signal transduction  cell surface receptor signaling pathway  receptor guanylyl cyclase signaling pathway  guanylate cyclase complex, soluble  regulation of blood pressure  integral component of membrane  natriuretic peptide receptor activity  peptide hormone binding  intracellular signal transduction  hormone binding  identical protein binding  single organism reproductive process  negative regulation of meiotic cell cycle  bone development  cellular response to granulocyte macrophage colony-stimulating factor stimulus  negative regulation of oocyte maturation  regulation of cardiac conduction  
Pathways : KEGGPurine metabolism    Vascular smooth muscle contraction   
NDEx NetworkNPR2
Atlas of Cancer Signalling NetworkNPR2
Wikipedia pathwaysNPR2
Orthology - Evolution
OrthoDB4882
GeneTree (enSembl)ENSG00000159899
Phylogenetic Trees/Animal Genes : TreeFamNPR2
HOVERGENP20594
HOGENOMP20594
Homologs : HomoloGeneNPR2
Homology/Alignments : Family Browser (UCSC)NPR2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNPR2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NPR2
dbVarNPR2
ClinVarNPR2
1000_GenomesNPR2 
Exome Variant ServerNPR2
ExAC (Exome Aggregation Consortium)NPR2 (select the gene name)
Genetic variants : HAPMAP4882
Genomic Variants (DGV)NPR2 [DGVbeta]
DECIPHER (Syndromes)9:35792406-35809728  ENSG00000159899
CONAN: Copy Number AnalysisNPR2 
Mutations
ICGC Data PortalNPR2 
TCGA Data PortalNPR2 
Broad Tumor PortalNPR2
OASIS PortalNPR2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNPR2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNPR2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch NPR2
DgiDB (Drug Gene Interaction Database)NPR2
DoCM (Curated mutations)NPR2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NPR2 (select a term)
intoGenNPR2
Cancer3DNPR2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM108961    602875    615923    616255   
Orphanet1288    21905   
MedgenNPR2
Genetic Testing Registry NPR2
NextProtP20594 [Medical]
TSGene4882
GENETestsNPR2
Huge Navigator NPR2 [HugePedia]
snp3D : Map Gene to Disease4882
BioCentury BCIQNPR2
ClinGenNPR2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4882
Chemical/Pharm GKB GenePA257
Clinical trialNPR2
Miscellaneous
canSAR (ICR)NPR2 (select the gene name)
Probes
Litterature
PubMed73 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNPR2
EVEXNPR2
GoPubMedNPR2
iHOPNPR2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:12:36 CEST 2017

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