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... See more...

Aliases for NPR2 Gene

Aliases for NPR2 Gene

  • Natriuretic Peptide Receptor 2 2 3 5
  • Atrial Natriuretic Peptide Receptor Type B 3 4
  • Atrial Natriuretic Peptide Receptor 2 3 4
  • Guanylate Cyclase 2B 2 3
  • Guanylate Cyclase B 3 4
  • EC 4.6.1.2 4 54
  • 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 Oxytocin signaling pathway and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include identical protein binding and protein kinase activity. An important paralog of this gene is NPR1.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for NPR2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NPR2 Gene

Genomics for NPR2 Gene

GeneHancer (GH) Regulatory Elements for NPR2 Gene

Promoters and enhancers for NPR2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J035755 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 755.9 +4.5 4475 3.8 ZNF785 CTCF RBPJ POLR2A CC2D1A ELF1 MNT ZBTB33 NKRF ELF3 NPR2 ENSG00000228843 MSMP lnc-MSMP-2 YBX1P10 TPM2 TLN1 TMEM8B ARHGEF39 CCDC107
GH09J035754 Promoter 0.5 EPDnew 750.6 +1.4 1350 0.1 ZIC2 GLIS1 MSMP NPR2 piR-56667 lnc-MSMP-2 RGP1 L13304-037 RF00017-7531
GH09J035753 Enhancer 0.2 ENCODE 750.6 +0.7 674 0.2 NPR2 piR-56667 MSMP RGP1 lnc-MSMP-2 L13304-037 RF00017-7531
GH09J035679 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 20.5 -66.8 -66828 12.8 SIN3A RBPJ POLR2A NR2F6 L3MBTL2 ZNF148 ZFX ZNF384 SP7 PRDM1 TPM2 GBA2 TMEM8B TLN1 NPR2 CCDC107 SIT1 CREB3 RGP1 ENSG00000228843
GH09J035656 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 13.2 -91.9 -91929 10 GTF3C2 ZNF785 SIN3A ZNF24 SP1 ZBTB40 CTCF ZBTB6 MLX RBPJ ARHGEF39 CCDC107 lnc-SIT1-1 VCP RECK RGP1 PHF24 C9orf131 PIGO TMEM8B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NPR2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NPR2 gene promoter:
  • AhR
  • Arnt
  • ATF
  • Bach2
  • COMP1
  • GATA-3
  • MAZR
  • NF-1
  • NF-1/L
  • SEF-1 (1)

Genomic Locations for NPR2 Gene

Genomic Locations for NPR2 Gene
chr9:35,752,945-35,809,732
(GRCh38/hg38)
Size:
56,788 bases
Orientation:
Plus strand
chr9:35,792,151-35,809,729
(GRCh37/hg19)
Size:
17,579 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

Selected DME Specific Peptides for NPR2 Gene

P20594:
  • SINLDWMFRYSLIND
  • RGSSYGSL
  • GSLQDILEN
  • DLSPKEIVQKVRNGQ
  • LVEERTQAYLEEKRKAE
  • TAHGKYQ
  • RMEQYANNLE
  • IAGCFYDG
  • QLRLRIG
  • SFRIRHRP
  • YKVETIGDAY
  • LLYQILPHSVAEQLKRGETVQAEAFDSVTIYFSDIVGF
  • GACSEYLAPL
  • MLWRIRWEELQF
  • VLFELKHMRDVQ
  • LLNDLYT
  • NGRIVYICGPL
  • FSDIVGFT
  • LKSSNCVVD
  • AKKLWTAPELL
  • SGDFQPAAHYSGAEKQIWWTGRPIPWVKG
  • PRYCLFGDTVNTASRMES
  • GVTGLVVMDKNNDRETDFVLWAMGDL
  • MPRYCLFG
  • ARMALALLDAV
  • FIGACID
  • ESNGQALKIHVSSTTKDALDELGCFQLELRGDVEMKGKGK

Post-translational modifications for NPR2 Gene

  • Phosphorylated (PubMed:26980729). Phosphorylation of the protein kinase-like domain is required for full activation by CNP (By similarity).
  • Glycosylated.
  • Glycosylation at Asn24, Asn35, Asn161, Asn195, Asn244, Asn277, and Asn349
  • Modification sites at PhosphoSitePlus

Domains & Families for NPR2 Gene

Gene Families for NPR2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for NPR2 Gene

GenScript: Design optimal peptide antigens:
  • Guanylate cyclase B (ANPRB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P20594

UniProtKB/Swiss-Prot:

ANPRB_HUMAN :
  • Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
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

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=GTP = 3',5'-cyclic GMP + diphosphate; Xref=Rhea:RHEA:13665, ChEBI:CHEBI:33019, ChEBI:CHEBI:37565, ChEBI:CHEBI:57746; EC=4.6.1.2; Evidence=. ;.
GENATLAS Biochemistry:
natriuretic peptide,receptor B,strongly expressed in the brain,including the pituitary gland and potentially playing a role in neuroendocrine regulation

Enzyme Numbers (IUBMB) for NPR2 Gene

Phenotypes From GWAS Catalog for NPR2 Gene

Gene Ontology (GO) - Molecular Function for NPR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001653 peptide receptor activity IBA 21873635
GO:0004383 guanylate cyclase activity IEA,IMP 26980729
GO:0004672 protein kinase activity IEA --
GO:0005515 protein binding IPI 16870210
GO:0005524 ATP binding 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

  • Taconic Biosciences Mouse Models for NPR2

CRISPR Products

Clone Products

  • Addgene plasmids for NPR2

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NPR2 gene
Compartment Confidence
plasma membrane 5
extracellular 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for NPR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA,TAS --
GO:0005887 integral component of plasma membrane IDA 26980729
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NPR2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NPR2 Gene

Pathways & Interactions for NPR2 Gene

PathCards logo

SuperPathways for NPR2 Gene

SuperPathway Contained pathways
1 G-Beta Gamma Signaling
.44
.37
.30
2 Cardiac conduction
3 Oxytocin signaling pathway
4 Sweet Taste Signaling
.46
.37
5 cGMP-PKG signaling pathway
genes like me logo Genes that share pathways with NPR2: view

Pathways by source for NPR2 Gene

9 Qiagen pathways for NPR2 Gene
  • Cellular Effects of Sildenafil
  • CRHR Pathway
  • eNOS Signaling
  • Intracellular Calcium Signaling
  • Relaxin Pathway

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 IEA,IDA 1672777
GO:0006468 protein phosphorylation IEA --
GO:0007165 signal transduction IBA 21873635
GO:0007168 receptor guanylyl cyclase signaling pathway IBA,IMP 26980729
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

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

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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
monoclonal antibody 3G12
Antagonist
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
AP 811
124833-45-0

(5) Tocris Compounds for NPR2 Gene

Compound Action Cas Number
AP 811 High affinity, selective NPR3 antagonist 124833-45-0
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
genes like me logo Genes that share compounds with NPR2: view

Transcripts for NPR2 Gene

mRNA/cDNA for NPR2 Gene

CRISPR Products

Clone Products

  • Addgene plasmids for NPR2

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for NPR2 Gene



Protein tissue co-expression partners for NPR2 Gene

NURSA nuclear receptor signaling pathways regulating expression of NPR2 Gene:

NPR2

SOURCE GeneReport for Unigene cluster for NPR2 Gene:

Hs.78518

Evidence on tissue expression from TISSUES for NPR2 Gene

  • Nervous system(4.5)
  • Kidney(4.4)
  • Blood(4.3)
  • Heart(2.4)
  • Muscle(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NPR2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • respiratory
  • skeleton
Regions:
Head and neck:
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with NPR2: view

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 33 32
  • 99.71 (n)
OneToOne
cow
(Bos Taurus)
Mammalia -- 33
  • 99 (a)
OneToMany
NPR2 33
  • 97 (a)
OneToMany
dog
(Canis familiaris)
Mammalia NPR2 33 32
  • 94.87 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NPR2 33
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Npr2 17 33 32
  • 92.23 (n)
rat
(Rattus norvegicus)
Mammalia Npr2 32
  • 92.1 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NPR2 33
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves NPR2 33 32
  • 74.03 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NPR2 33
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.907 32
zebrafish
(Danio rerio)
Actinopterygii NPR2 33
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG31183 33 32
  • 54.45 (n)
OneToMany
CG10738 34
  • 36 (a)
Gyc32E 34
  • 34 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003283 32
  • 53.44 (n)
worm
(Caenorhabditis elegans)
Secernentea T01A4.1b 34
  • 57 (a)
T01A4.1a 34
  • 57 (a)
gcy-28 33 32
  • 51.52 (n)
OneToMany
gcy-12 34
  • 32 (a)
gcy-22 34
  • 30 (a)
daf-11 34
  • 28 (a)
gcy-9 34
  • 27 (a)
gcy-19 34
  • 27 (a)
gcy-8 34
  • 27 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 68 (a)
ManyToMany
-- 33
  • 45 (a)
ManyToMany
Cin.13928 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13928 32
Species where no ortholog for NPR2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NPR2: view image

Paralogs for NPR2 Gene

(7) SIMAP similar genes for NPR2 Gene using alignment to 5 proteins:

  • ANPRB_HUMAN
  • A6NJF2_HUMAN
  • H7C056_HUMAN
  • H7C1A1_HUMAN
  • H7C1X0_HUMAN

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 Variation AA Info Type
rs1057518817 likely-pathogenic, Craniosynostosis, Growth delay, Limb undergrowth, Trident hand 35,805,944(+) GTGGTCCTTTC/ coding_sequence_variant, frameshift
rs1057519324 pathogenic, Acromesomelic dysplasia Maroteaux type 35,801,153(+) C/T coding_sequence_variant, missense_variant, stop_gained
rs1057519333 pathogenic, Acromesomelic dysplasia Maroteaux type 35,806,163(+) T/C coding_sequence_variant, missense_variant
rs1057519334 pathogenic, Acromesomelic dysplasia Maroteaux type 35,802,550(+) C/ coding_sequence_variant, stop_gained
rs1057519335 pathogenic, Acromesomelic dysplasia Maroteaux type 35,792,968(+) T/A coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv1010658 CNV deletion 20482838
esv2399025 CNV deletion 18987734
esv2571756 CNV deletion 19546169
esv2738411 CNV deletion 23290073
esv2900 CNV loss 18987735
esv3544806 CNV deletion 23714750
nsv1077103 CNV deletion 25765185
nsv1110014 CNV deletion 24896259
nsv1125318 OTHER inversion 24896259
nsv416447 CNV deletion 16902084
nsv957142 CNV deletion 24416366

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)

Additional Variant Information for NPR2 Gene

Human Gene Mutation Database (HGMD)
NPR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NPR2

SNP Genotyping and Copy Number Assay Products

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

Disorders for NPR2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for NPR2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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, ECO:0000269 PubMed:17652215, ECO:0000269 PubMed:26980729}. 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.

Additional Disease Information for NPR2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Circulation research 1999) 3 4 23 43 56
  2. Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development. (PMID: 17652215) Hachiya R … Ogawa Y (The Journal of clinical endocrinology and metabolism 2007) 3 4 23 56
  3. Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. (PMID: 15146390) Bartels CF … Warman ML (American journal of human genetics 2004) 2 3 4 56
  4. Systematic screening of type B human natriuretic peptide receptor gene polymorphisms and association with essential hypertension. (PMID: 11464256) Rahmutula D … Ozawa Y (Journal of human hypertension 2001) 3 23 43 56
  5. A C2077T polymorphism of the type B human natriuretic peptide receptor gene is not associated with myocardial infarction. (PMID: 11208455) Rahmutula D … Ozawa Y (Medical science monitor : international medical journal of experimental and clinical research 2000) 3 23 43 56

Products for NPR2 Gene

Sources for NPR2 Gene