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Aliases for NPR2 Gene

Aliases for NPR2 Gene

  • Natriuretic Peptide Receptor 2 2 3 5
  • Atrial Natriuretic Peptide Receptor Type B 3 4
  • Guanylate Cyclase 2B 2 3
  • Guanylate Cyclase B 3 4
  • EC 4.6.1.2 4 61
  • 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
  • Atrial Natriuretic Peptide Receptor 2 3
  • Atrionatriuretic Peptide Receptor B 2
  • Natriuretic Peptide Receptor B 2
  • GUCY2B 3
  • GUC2B 3
  • NPRBi 3
  • ANPb 3
  • ECDM 3
  • 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 Vascular smooth muscle contraction and Sweet Taste Signaling. 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 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 CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NPR2 Gene

Genomics for NPR2 Gene

Regulatory Elements for NPR2 Gene

Enhancers for NPR2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G035679 1.5 Ensembl ENCODE dbSUPER 20.5 -66.8 -66828 12.8 PKNOX1 ARID4B SIN3A GLIS2 ELK1 FOS ZNF263 SP3 SMARCB1 MBD2 TPM2 GBA2 TMEM8B TLN1 NPR2 CCDC107 SIT1 CREB3 RGP1 MSMP
GH09G035904 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.6 +155.2 155223 7.4 FOXA2 SIN3A ZNF48 YY1 SLC30A9 ZNF121 GLIS2 GATA2 ZNF143 FOS HRCT1 SPAAR TMEM8B OR13J1 FAM221B NDUFA5P4 ENSG00000227388 NPR2 SPAG8 OR2S1P
GH09G035726 1.7 FANTOM5 ENCODE dbSUPER 10.3 -22.5 -22531 8.6 CREB3L1 MLX AGO1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 SP3 TMEM8B GBA2 TPM2 TLN1 ARHGEF39 RN7SL22P MSMP ENSG00000228843 CCDC107 CA9
GH09G035913 1.6 Ensembl ENCODE dbSUPER 10.1 +164.3 164297 7.7 HDGF PKNOX1 ARNT ARID4B YBX1 ZBTB7B YY1 ZNF766 ZNF207 ZNF548 YBX1P10 GBA2 SPAAR RECK NDUFA5P4 OR13J1 FAM221B TMEM8B SPAG8 ENSG00000227388
GH09G035616 1.2 ENCODE dbSUPER 10.2 -133.7 -133691 6.4 HDGF PKNOX1 ATF1 WRNIP1 ZBTB40 RFX5 ETS1 EGR1 SCRT2 ZNF143 CCDC107 RN7SL22P ARHGEF39 SIT1 CA9 FAM166B CREB3 TLN1 GBA2 CD72
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NPR2 on UCSC Golden Path with GeneCards custom track

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

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

  • Glycosylated.
  • Phosphorylated (PubMed:26980729). Phosphorylation of the protein kinase-like domain is required for full activation by CNP (By similarity).
  • Glycosylation at posLast=2424, Asn35, posLast=161161, Asn195, Asn244, posLast=277277, and Asn349
  • Modification sites at PhosphoSitePlus

Domains & 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 :
  • 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

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: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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for NPR2

Flow Cytometry 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
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
cytosol 4
extracellular 2
nucleus 2
endoplasmic reticulum 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for NPR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 26980729
GO:0008074 guanylate cyclase complex, soluble IBA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with NPR2: view

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:0001503 ossification IEA --
GO:0006182 cGMP biosynthetic process IDA,IEA 1672777
GO:0006468 protein phosphorylation IEA --
GO:0007168 receptor guanylyl cyclase signaling pathway IMP 26980729
GO:0008217 regulation of blood pressure TAS 10082481
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 Pharma stimulator, Target, agonist 0
Nesiritide Approved, Investigational Pharma binder, Target 0
Phosphoric acid Approved Pharma 0
Cyclic GMP Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
monoclonal antibody 3G12
Antagonist
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
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

Unigene Clusters for NPR2 Gene

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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for NPR2

Flow Cytometry Products

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, PaxDb, 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(2.3)
  • 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
Organs:
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

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

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
rs28929479 Pathogenic, Acromesomelic dysplasia, Maroteaux type (AMDM) [MIM:602875] 35,792,936(+) ACAGA(A/T)GACCG intron-variant, reference, missense
rs28931581 Pathogenic, Acromesomelic dysplasia, Maroteaux type (AMDM) [MIM:602875] 35,792,502(+) TGCTG(A/C)CAGAA intron-variant, reference, missense
rs28931582 Pathogenic, Acromesomelic dysplasia, Maroteaux type (AMDM) [MIM:602875] 35,792,751(+) CCCAC(G/T)GGCGC intron-variant, reference, missense
rs370158184 Acromesomelic dysplasia, Maroteaux type (AMDM) [MIM:602875] 35,808,665(+) GGCTA(C/T)GCATA intron-variant, reference, missense
rs587777596 Pathogenic, Epiphyseal chondrodysplasia, Miura type (ECDM) [MIM:615923] 35,805,586(+) ATAGT(C/T)GTTTT reference, missense

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)

Relevant External Links for NPR2 Gene

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

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

Disorders for NPR2 Gene

MalaCards: The human disease database

(7) 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
  • tall stature-scoliosis-macrodactyly of the great toes syndrome
short stature with nonspecific skeletal abnormalities
  • short stature with non-specific skeletal abnormalities
acromesomelic dysplasia
  • acromesomelic dwarfism
slipped capital femoral epiphysis
  • slipped capital femoral epiphyses
- 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.

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 22 46 64
  2. Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development. (PMID: 17652215) Hachiya R. … Ogawa Y. (J. Clin. Endocrinol. Metab. 2007) 3 4 22 64
  3. Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. (PMID: 15146390) Bartels C.F. … Warman M.L. (Am. J. Hum. Genet. 2004) 2 3 4 64
  4. Systematic screening of type B human natriuretic peptide receptor gene polymorphisms and association with essential hypertension. (PMID: 11464256) Rahmutula D. … Ozawa Y. (J Hum Hypertens 2001) 3 22 46 64
  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. (Med. Sci. Monit. 2000) 3 22 46 64

Products for NPR2 Gene

Sources for NPR2 Gene

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