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Entry version 210 (18 Sep 2019)
Sequence version 1 (01 Feb 1991)
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Protein

Atrial natriuretic peptide receptor 2

Gene

NPR2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.5 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionLyase, Receptor
Biological processcGMP biosynthesis, Osteogenesis
LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

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BRENDAi
4.6.1.2 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-5578768 Physiological factors

Protein family/group databases

Transport Classification Database

More...
TCDBi
8.A.85.1.2 the guanylate cyclase (gc) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Atrial natriuretic peptide receptor 2 (EC:4.6.1.21 Publication)
Alternative name(s):
Atrial natriuretic peptide receptor type B
Short name:
ANP-B
Short name:
ANPR-B
Short name:
NPR-B
Guanylate cyclase B
Short name:
GC-B
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NPR2
Synonyms:ANPRB
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7944 NPR2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
108961 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P20594

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini23 – 458ExtracellularSequence analysisAdd BLAST436
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei459 – 478HelicalSequence analysisAdd BLAST20
Topological domaini479 – 1047CytoplasmicSequence analysisAdd BLAST569

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Acromesomelic dysplasia, Maroteaux type (AMDM)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_02258332P → T in AMDM. 1 PublicationCorresponds to variant dbSNP:rs28931581EnsemblClinVar.1
Natural variantiVAR_022584115W → G in AMDM; markedly deficient activity. 1 PublicationCorresponds to variant dbSNP:rs28931582EnsemblClinVar.1
Natural variantiVAR_022585176D → E in AMDM. 1 PublicationCorresponds to variant dbSNP:rs28929479EnsemblClinVar.1
Natural variantiVAR_022586297T → M in AMDM; markedly deficient activity. 1 PublicationCorresponds to variant dbSNP:rs1313765432Ensembl.1
Natural variantiVAR_022587338Y → C in AMDM. 1 Publication1
Natural variantiVAR_022588409A → T in AMDM. 1 Publication1
Natural variantiVAR_022589413G → E in AMDM; markedly deficient activity. 1 Publication1
Natural variantiVAR_076481658L → F in AMDM; no effect on subcellular location; changed glycosylation; no effect on C-type natriuretic peptide binding; decreased guanylate cyclase activity; loss of natriuretic peptide receptor activity; dominant negative effect. 2 PublicationsCorresponds to variant dbSNP:rs1314542724Ensembl.1
Natural variantiVAR_022590708Y → C in AMDM; no effect on subcellular location; changed glycosylation; no effect on C-type natriuretic peptide binding; decreased guanylate cyclase activity. 2 PublicationsCorresponds to variant dbSNP:rs1305337032Ensembl.1
Natural variantiVAR_022591776R → W in AMDM; no effect on subcellular location; changed glycosylation; no effect on C-type natriuretic peptide binding; decreased guanylate cyclase activity. 2 PublicationsCorresponds to variant dbSNP:rs1303913631Ensembl.1
Natural variantiVAR_022592957R → C in AMDM. 1 PublicationCorresponds to variant dbSNP:rs370158184Ensembl.1
Natural variantiVAR_022593959G → A in AMDM; no effect on subcellular location; changed glycosylation; no effect on C-type natriuretic peptide binding; decreased guanylate cyclase activity. 2 Publications1
Epiphyseal chondrodysplasia, Miura type (ECDM)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071875488A → P in ECDM; mutant and wild-type alleles have similar expression levels; the mutation results in increased guanylate cyclase activity. 1 PublicationCorresponds to variant dbSNP:rs587777597EnsemblClinVar.1
Natural variantiVAR_071876655R → C in ECDM; the mutation results in increased guanylate cyclase activity. 1 PublicationCorresponds to variant dbSNP:rs587777596EnsemblClinVar.1
Natural variantiVAR_071877882V → M in ECDM; the mutation results in higher guanylate cyclase activity; causes a 15-fold increase in basal Vmax; has higher affinity for GTP than wild-type in the presence of NPPC; might lead to a structural change that locks the enzyme in a conformation mimicking the ATP-bound state. 2 Publications1
Short stature with non-specific skeletal abnormalities (SNSK)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA condition characterized by short stature, defined as a height less than 2 SD below normal, and no endocrine abnormalities.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07467876S → P in SNSK; loss of C-type natriuretic peptide-induced signaling; dominant negative effect; loss of localization to the plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs796065355EnsemblClinVar.1
Natural variantiVAR_074679110R → C in SNSK; loss of C-type natriuretic peptide-induced signaling; dominant negative effect; retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs758478717EnsemblClinVar.1
Natural variantiVAR_074681263R → P in SNSK; loss of C-type natriuretic peptide-induced signaling; dominant negative effect; loss of localization to the plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs139036657EnsemblClinVar.1
Natural variantiVAR_074682417Q → E in SNSK; loss of C-type natriuretic peptide-induced signaling; dominant negative effect; no effect on cell surface expression. 1 PublicationCorresponds to variant dbSNP:rs796065356EnsemblClinVar.1
Natural variantiVAR_074683819R → C in SNSK; loss of C-type natriuretic peptide-induced signaling; dominant negative effect; no effect on cell surface expression. 1 PublicationCorresponds to variant dbSNP:rs766256429EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi24N → D or Q: Decreased glycosylation. Decreased guanylate cyclase activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNET

More...
DisGeNETi
4882

MalaCards human disease database

More...
MalaCardsi
NPR2
MIMi602875 phenotype
615923 phenotype
616255 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000159899

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
40 Acromesomelic dysplasia, Maroteaux type
329191 Tall stature-scoliosis-macrodactyly of the great toes syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA257

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2111337

Drug and drug target database

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DrugBanki
DB01613 Erythrityl tetranitrate
DB04899 Nesiritide

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
1748

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NPR2

Domain mapping of disease mutations (DMDM)

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DMDMi
113916

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 22Sequence analysisAdd BLAST22
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001236423 – 1047Atrial natriuretic peptide receptor 2Add BLAST1025

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi24N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi35N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi75 ↔ 101By similarity
Glycosylationi161N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi195N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi244N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi277N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi349N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi439InterchainCurated
Disulfide bondi448InterchainCurated
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei513Phosphoserine1 Publication1
Modified residuei516Phosphothreonine1 Publication1
Modified residuei518Phosphoserine1 Publication1
Modified residuei522PhosphoserineBy similarity1
Modified residuei523Phosphoserine1 Publication1
Modified residuei526Phosphoserine1 Publication1
Modified residuei529Phosphothreonine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated (PubMed:26980729). Phosphorylation of the protein kinase-like domain is required for full activation by CNP (By similarity).By similarity1 Publication
Glycosylated.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P20594

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P20594

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P20594

MaxQB - The MaxQuant DataBase

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MaxQBi
P20594

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P20594

PeptideAtlas

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PeptideAtlasi
P20594

PRoteomics IDEntifications database

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PRIDEi
P20594

ProteomicsDB human proteome resource

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ProteomicsDBi
53766 [P20594-1]
53767 [P20594-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P20594

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P20594

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000159899 Expressed in 220 organ(s), highest expression level in right uterine tube

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P20594 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P20594 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
110942, 10 interactors

Protein interaction database and analysis system

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IntActi
P20594, 3 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000341083

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P20594

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P20594

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini513 – 786Protein kinasePROSITE-ProRule annotationAdd BLAST274
Domaini861 – 991Guanylate cyclasePROSITE-ProRule annotationAdd BLAST131

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.PROSITE-ProRule annotation

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1023 Eukaryota
COG2114 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156985

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P20594

KEGG Orthology (KO)

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KOi
K12324

Identification of Orthologs from Complete Genome Data

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OMAi
NYAIFYL

Database of Orthologous Groups

More...
OrthoDBi
686369at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P20594

TreeFam database of animal gene trees

More...
TreeFami
TF106338

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.30.70.1230, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001054 A/G_cyclase
IPR018297 A/G_cyclase_CS
IPR001828 ANF_lig-bd_rcpt
IPR001170 ANPR/GUC
IPR011009 Kinase-like_dom_sf
IPR029787 Nucleotide_cyclase
IPR028082 Peripla_BP_I
IPR000719 Prot_kinase_dom
IPR001245 Ser-Thr/Tyr_kinase_cat_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01094 ANF_receptor, 1 hit
PF00211 Guanylate_cyc, 1 hit
PF07714 Pkinase_Tyr, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00255 NATPEPTIDER

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00044 CYCc, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53822 SSF53822, 1 hit
SSF55073 SSF55073, 1 hit
SSF56112 SSF56112, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00458 ANF_RECEPTORS, 1 hit
PS00452 GUANYLATE_CYCLASE_1, 1 hit
PS50125 GUANYLATE_CYCLASE_2, 1 hit
PS50011 PROTEIN_KINASE_DOM, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform Long (identifier: P20594-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

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        10         20         30         40         50
MALPSLLLLV AALAGGVRPP GARNLTLAVV LPEHNLSYAW AWPRVGPAVA
60 70 80 90 100
LAVEALGRAL PVDLRFVSSE LEGACSEYLA PLSAVDLKLY HDPDLLLGPG
110 120 130 140 150
CVYPAASVAR FASHWRLPLL TAGAVASGFS AKNDHYRTLV RTGPSAPKLG
160 170 180 190 200
EFVVTLHGHF NWTARAALLY LDARTDDRPH YFTIEGVFEA LQGSNLSVQH
210 220 230 240 250
QVYAREPGGP EQATHFIRAN GRIVYICGPL EMLHEILLQA QRENLTNGDY
260 270 280 290 300
VFFYLDVFGE SLRAGPTRAT GRPWQDNRTR EQAQALREAF QTVLVITYRE
310 320 330 340 350
PPNPEYQEFQ NRLLIRARED FGVELGPSLM NLIAGCFYDG ILLYAEVLNE
360 370 380 390 400
TIQEGGTRED GLRIVEKMQG RRYHGVTGLV VMDKNNDRET DFVLWAMGDL
410 420 430 440 450
DSGDFQPAAH YSGAEKQIWW TGRPIPWVKG APPSDNPPCA FDLDDPSCDK
460 470 480 490 500
TPLSTLAIVA LGTGITFIMF GVSSFLIFRK LMLEKELASM LWRIRWEELQ
510 520 530 540 550
FGNSERYHKG AGSRLTLSLR GSSYGSLMTA HGKYQIFANT GHFKGNVVAI
560 570 580 590 600
KHVNKKRIEL TRQVLFELKH MRDVQFNHLT RFIGACIDPP NICIVTEYCP
610 620 630 640 650
RGSLQDILEN DSINLDWMFR YSLINDLVKG MAFLHNSIIS SHGSLKSSNC
660 670 680 690 700
VVDSRFVLKI TDYGLASFRS TAEPDDSHAL YAKKLWTAPE LLSGNPLPTT
710 720 730 740 750
GMQKADVYSF GIILQEIALR SGPFYLEGLD LSPKEIVQKV RNGQRPYFRP
760 770 780 790 800
SIDRTQLNEE LVLLMERCWA QDPAERPDFG QIKGFIRRFN KEGGTSILDN
810 820 830 840 850
LLLRMEQYAN NLEKLVEERT QAYLEEKRKA EALLYQILPH SVAEQLKRGE
860 870 880 890 900
TVQAEAFDSV TIYFSDIVGF TALSAESTPM QVVTLLNDLY TCFDAIIDNF
910 920 930 940 950
DVYKVETIGD AYMVVSGLPG RNGQRHAPEI ARMALALLDA VSSFRIRHRP
960 970 980 990 1000
HDQLRLRIGV HTGPVCAGVV GLKMPRYCLF GDTVNTASRM ESNGQALKIH
1010 1020 1030 1040
VSSTTKDALD ELGCFQLELR GDVEMKGKGK MRTYWLLGER KGPPGLL
Length:1,047
Mass (Da):117,022
Last modified:February 1, 1991 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i817FB74D6B31F7EF
GO
Isoform Short (identifier: P20594-2) [UniParc]FASTAAdd to basket
Also known as: NPR-BI

The sequence of this isoform differs from the canonical sequence as follows:
     964-1047: PVCAGVVGLK...GERKGPPGLL → KADSHSSPSLHLSQTLPTCFFSKGQSVLGLLA

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:995
Mass (Da):111,208
Checksum:i745D41E451E0D7DF
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C1A1H7C1A1_HUMAN
Atrial natriuretic peptide receptor...
NPR2
275Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C056H7C056_HUMAN
Atrial natriuretic peptide receptor...
NPR2
164Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C1X0H7C1X0_HUMAN
Atrial natriuretic peptide receptor...
NPR2
76Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti755T → S in BAA81737 (PubMed:10082481).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02258332P → T in AMDM. 1 PublicationCorresponds to variant dbSNP:rs28931581EnsemblClinVar.1
Natural variantiVAR_07467876S → P in SNSK; loss of C-type natriuretic peptide-induced signaling; dominant negative effect; loss of localization to the plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs796065355EnsemblClinVar.1
Natural variantiVAR_074679110R → C in SNSK; loss of C-type natriuretic peptide-induced signaling; dominant negative effect; retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs758478717EnsemblClinVar.1
Natural variantiVAR_022584115W → G in AMDM; markedly deficient activity. 1 PublicationCorresponds to variant dbSNP:rs28931582EnsemblClinVar.1
Natural variantiVAR_022585176D → E in AMDM. 1 PublicationCorresponds to variant dbSNP:rs28929479EnsemblClinVar.1
Natural variantiVAR_074680187V → I Rare polymorphism; does not affect C-type natriuretic peptide-induced signaling. 1 PublicationCorresponds to variant dbSNP:rs768423636Ensembl.1
Natural variantiVAR_042219232M → I1 PublicationCorresponds to variant dbSNP:rs55747238Ensembl.1
Natural variantiVAR_074681263R → P in SNSK; loss of C-type natriuretic peptide-induced signaling; dominant negative effect; loss of localization to the plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs139036657EnsemblClinVar.1
Natural variantiVAR_022586297T → M in AMDM; markedly deficient activity. 1 PublicationCorresponds to variant dbSNP:rs1313765432Ensembl.1
Natural variantiVAR_022587338Y → C in AMDM. 1 Publication1
Natural variantiVAR_022588409A → T in AMDM. 1 Publication1
Natural variantiVAR_022589413G → E in AMDM; markedly deficient activity. 1 Publication1
Natural variantiVAR_074682417Q → E in SNSK; loss of C-type natriuretic peptide-induced signaling; dominant negative effect; no effect on cell surface expression. 1 PublicationCorresponds to variant dbSNP:rs796065356EnsemblClinVar.1
Natural variantiVAR_071875488A → P in ECDM; mutant and wild-type alleles have similar expression levels; the mutation results in increased guanylate cyclase activity. 1 PublicationCorresponds to variant dbSNP:rs587777597EnsemblClinVar.1
Natural variantiVAR_071876655R → C in ECDM; the mutation results in increased guanylate cyclase activity. 1 PublicationCorresponds to variant dbSNP:rs587777596EnsemblClinVar.1
Natural variantiVAR_076481658L → F in AMDM; no effect on subcellular location; changed glycosylation; no effect on C-type natriuretic peptide binding; decreased guanylate cyclase activity; loss of natriuretic peptide receptor activity; dominant negative effect. 2 PublicationsCorresponds to variant dbSNP:rs1314542724Ensembl.1
Natural variantiVAR_022590708Y → C in AMDM; no effect on subcellular location; changed glycosylation; no effect on C-type natriuretic peptide binding; decreased guanylate cyclase activity. 2 PublicationsCorresponds to variant dbSNP:rs1305337032Ensembl.1
Natural variantiVAR_011968771Q → E. Corresponds to variant dbSNP:rs5816Ensembl.1
Natural variantiVAR_022591776R → W in AMDM; no effect on subcellular location; changed glycosylation; no effect on C-type natriuretic peptide binding; decreased guanylate cyclase activity. 2 PublicationsCorresponds to variant dbSNP:rs1303913631Ensembl.1
Natural variantiVAR_074683819R → C in SNSK; loss of C-type natriuretic peptide-induced signaling; dominant negative effect; no effect on cell surface expression. 1 PublicationCorresponds to variant dbSNP:rs766256429EnsemblClinVar.1
Natural variantiVAR_042220882V → I1 PublicationCorresponds to variant dbSNP:rs55700371EnsemblClinVar.1
Natural variantiVAR_071877882V → M in ECDM; the mutation results in higher guanylate cyclase activity; causes a 15-fold increase in basal Vmax; has higher affinity for GTP than wild-type in the presence of NPPC; might lead to a structural change that locks the enzyme in a conformation mimicking the ATP-bound state. 2 Publications1
Natural variantiVAR_022592957R → C in AMDM. 1 PublicationCorresponds to variant dbSNP:rs370158184Ensembl.1
Natural variantiVAR_022593959G → A in AMDM; no effect on subcellular location; changed glycosylation; no effect on C-type natriuretic peptide binding; decreased guanylate cyclase activity. 2 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_001810964 – 1047PVCAG…PPGLL → KADSHSSPSLHLSQTLPTCF FSKGQSVLGLLA in isoform Short. 1 PublicationAdd BLAST84

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB005647 Genomic DNA Translation: BAA81737.1
AJ005282 mRNA Translation: CAA06466.1
AL133410 Genomic DNA No translation available.
EU326311 Genomic DNA Translation: ACA05920.1
EU326311 Genomic DNA Translation: ACA05921.1
CH471071 Genomic DNA Translation: EAW58338.1
CH471071 Genomic DNA Translation: EAW58337.1
CH471071 Genomic DNA Translation: EAW58339.1
CH471071 Genomic DNA Translation: EAW58340.1
BC023017 mRNA Translation: AAH23017.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS6590.1 [P20594-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
S05514 OYHUBR

NCBI Reference Sequences

More...
RefSeqi
NP_003986.2, NM_003995.3 [P20594-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000342694; ENSP00000341083; ENSG00000159899 [P20594-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
4882

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:4882

UCSC genome browser

More...
UCSCi
uc003zyd.4 human [P20594-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB005647 Genomic DNA Translation: BAA81737.1
AJ005282 mRNA Translation: CAA06466.1
AL133410 Genomic DNA No translation available.
EU326311 Genomic DNA Translation: ACA05920.1
EU326311 Genomic DNA Translation: ACA05921.1
CH471071 Genomic DNA Translation: EAW58338.1
CH471071 Genomic DNA Translation: EAW58337.1
CH471071 Genomic DNA Translation: EAW58339.1
CH471071 Genomic DNA Translation: EAW58340.1
BC023017 mRNA Translation: AAH23017.1
CCDSiCCDS6590.1 [P20594-1]
PIRiS05514 OYHUBR
RefSeqiNP_003986.2, NM_003995.3 [P20594-1]

3D structure databases

SMRiP20594
ModBaseiSearch...

Protein-protein interaction databases

BioGridi110942, 10 interactors
IntActiP20594, 3 interactors
STRINGi9606.ENSP00000341083

Chemistry databases

BindingDBiP20594
ChEMBLiCHEMBL2111337
DrugBankiDB01613 Erythrityl tetranitrate
DB04899 Nesiritide
GuidetoPHARMACOLOGYi1748

Protein family/group databases

TCDBi8.A.85.1.2 the guanylate cyclase (gc) family

PTM databases

iPTMnetiP20594
PhosphoSitePlusiP20594

Polymorphism and mutation databases

BioMutaiNPR2
DMDMi113916

Proteomic databases

EPDiP20594
jPOSTiP20594
MassIVEiP20594
MaxQBiP20594
PaxDbiP20594
PeptideAtlasiP20594
PRIDEiP20594
ProteomicsDBi53766 [P20594-1]
53767 [P20594-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
4882
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000342694; ENSP00000341083; ENSG00000159899 [P20594-1]
GeneIDi4882
KEGGihsa:4882
UCSCiuc003zyd.4 human [P20594-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
4882
DisGeNETi4882

GeneCards: human genes, protein and diseases

More...
GeneCardsi
NPR2
HGNCiHGNC:7944 NPR2
MalaCardsiNPR2
MIMi108961 gene
602875 phenotype
615923 phenotype
616255 phenotype
neXtProtiNX_P20594
OpenTargetsiENSG00000159899
Orphaneti40 Acromesomelic dysplasia, Maroteaux type
329191 Tall stature-scoliosis-macrodactyly of the great toes syndrome
PharmGKBiPA257

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1023 Eukaryota
COG2114 LUCA
GeneTreeiENSGT00940000156985
InParanoidiP20594
KOiK12324
OMAiNYAIFYL
OrthoDBi686369at2759
PhylomeDBiP20594
TreeFamiTF106338

Enzyme and pathway databases

BRENDAi4.6.1.2 2681
ReactomeiR-HSA-5578768 Physiological factors

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
NPR2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
NPR2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
4882

Pharos

More...
Pharosi
P20594

Protein Ontology

More...
PROi
PR:P20594

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000159899 Expressed in 220 organ(s), highest expression level in right uterine tube
ExpressionAtlasiP20594 baseline and differential
GenevisibleiP20594 HS

Family and domain databases

Gene3Di3.30.70.1230, 1 hit
InterProiView protein in InterPro
IPR001054 A/G_cyclase
IPR018297 A/G_cyclase_CS
IPR001828 ANF_lig-bd_rcpt
IPR001170 ANPR/GUC
IPR011009 Kinase-like_dom_sf
IPR029787 Nucleotide_cyclase
IPR028082 Peripla_BP_I
IPR000719 Prot_kinase_dom
IPR001245 Ser-Thr/Tyr_kinase_cat_dom
PfamiView protein in Pfam
PF01094 ANF_receptor, 1 hit
PF00211 Guanylate_cyc, 1 hit
PF07714 Pkinase_Tyr, 1 hit
PRINTSiPR00255 NATPEPTIDER
SMARTiView protein in SMART
SM00044 CYCc, 1 hit
SUPFAMiSSF53822 SSF53822, 1 hit
SSF55073 SSF55073, 1 hit
SSF56112 SSF56112, 1 hit
PROSITEiView protein in PROSITE
PS00458 ANF_RECEPTORS, 1 hit
PS00452 GUANYLATE_CYCLASE_1, 1 hit
PS50125 GUANYLATE_CYCLASE_2, 1 hit
PS50011 PROTEIN_KINASE_DOM, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiANPRB_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P20594
Secondary accession number(s): B0ZBF2
, B0ZBF3, D3DRP3, D3DRP4, O60871, Q4VAK7, Q5TCV2, Q8TA93, Q9UQ50
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1991
Last sequence update: February 1, 1991
Last modified: September 18, 2019
This is version 210 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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