Property Summary

NCBI Gene PubMed Count 73
Grant Count 44
R01 Count 24
Funding $6,955,727.71
PubMed Score 135.10
PubTator Score 295.25

Knowledge Summary

Patent (6,827)

Expression

  Differential Expression (6)

Disease log2 FC p
malignant mesothelioma -2.200 0.000
lung cancer -1.100 0.001
breast carcinoma -1.100 0.000
ductal carcinoma in situ -1.200 0.002
invasive ductal carcinoma -1.800 0.001
ovarian cancer -1.600 0.000

Gene RIF (53)

PMID Text
26567084 Loss-of-function mutations of the NPR2 gene is associated with acromesomelic dysplasia, type maroteaux.
26075495 NPR2 mutations account for approximately 3% of patients with disproportionate short stature and/or clinical or radiographic indicators of SHOX deficiency and in whom no SHOX defect has been identified.
25959430 3 consanguineous families segregating Acromesomelic dysplasia Maroteaux type in an autosomal recessive manner studied. Linkage in the families was established to the NPR2 gene on chromosome 9p12-21. Sequence analysis revealed 2 novel missense variants (p.Arg601Ser; p.Arg749Trp) in 2 families and a previously reported splice site variant (c.2986+2T>G) in the third family.
25703509 Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature
25117468 Cardiac fibrosis and the endogenous natriuretic peptide system were evaluated in end-stage heart failure to assess the anti-fibrotic actions of the dual GC-A/-B activator.
24699414 Molecular dynamics analysis indicated decreases in the values of Van der Waals, electrostatic energy and potential energy of NPRB/Vasonatrin peptide compared to NPRA/Vasonatrin peptide.
24471569 Identification of heterozygous dominant negative NPR2 mutations in 2% of Japanese patients with short stature.
24431432 In transgenic mice, complete absence of Npr2 activity prohibits the bifurcation of cranial sensory axons.
24259409 Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.
24001744 We identified heterozygous NPR2 mutations in 6% of patients initially classified as idiopathic short stature. Affected patients have mild and variable degrees of short stature without a distinct phenotype.
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AA Sequence

MALPSLLLLVAALAGGVRPPGARNLTLAVVLPEHNLSYAWAWPRVGPAVALAVEALGRALPVDLRFVSSE      1 - 70
LEGACSEYLAPLSAVDLKLYHDPDLLLGPGCVYPAASVARFASHWRLPLLTAGAVASGFSAKNDHYRTLV     71 - 140
RTGPSAPKLGEFVVTLHGHFNWTARAALLYLDARTDDRPHYFTIEGVFEALQGSNLSVQHQVYAREPGGP    141 - 210
EQATHFIRANGRIVYICGPLEMLHEILLQAQRENLTNGDYVFFYLDVFGESLRAGPTRATGRPWQDNRTR    211 - 280
EQAQALREAFQTVLVITYREPPNPEYQEFQNRLLIRAREDFGVELGPSLMNLIAGCFYDGILLYAEVLNE    281 - 350
TIQEGGTREDGLRIVEKMQGRRYHGVTGLVVMDKNNDRETDFVLWAMGDLDSGDFQPAAHYSGAEKQIWW    351 - 420
TGRPIPWVKGAPPSDNPPCAFDLDDPSCDKTPLSTLAIVALGTGITFIMFGVSSFLIFRKLMLEKELASM    421 - 490
LWRIRWEELQFGNSERYHKGAGSRLTLSLRGSSYGSLMTAHGKYQIFANTGHFKGNVVAIKHVNKKRIEL    491 - 560
TRQVLFELKHMRDVQFNHLTRFIGACIDPPNICIVTEYCPRGSLQDILENDSINLDWMFRYSLINDLVKG    561 - 630
MAFLHNSIISSHGSLKSSNCVVDSRFVLKITDYGLASFRSTAEPDDSHALYAKKLWTAPELLSGNPLPTT    631 - 700
GMQKADVYSFGIILQEIALRSGPFYLEGLDLSPKEIVQKVRNGQRPYFRPSIDRTQLNEELVLLMERCWA    701 - 770
QDPAERPDFGQIKGFIRRFNKEGGTSILDNLLLRMEQYANNLEKLVEERTQAYLEEKRKAEALLYQILPH    771 - 840
SVAEQLKRGETVQAEAFDSVTIYFSDIVGFTALSAESTPMQVVTLLNDLYTCFDAIIDNFDVYKVETIGD    841 - 910
AYMVVSGLPGRNGQRHAPEIARMALALLDAVSSFRIRHRPHDQLRLRIGVHTGPVCAGVVGLKMPRYCLF    911 - 980
GDTVNTASRMESNGQALKIHVSSTTKDALDELGCFQLELRGDVEMKGKGKMRTYWLLGERKGPPGLL       981 - 1047
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Text Mined References (75)

PMID Year Title
26980729 2016 Catalytically Active Guanylyl Cyclase B Requires Endoplasmic Reticulum-mediated Glycosylation, and Mutations That Inhibit This Process Cause Dwarfism.
26567084 2016 Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports.
26075495 2015 Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.
25959430 2015 Homozygous sequence variants in the NPR2 gene underlying Acromesomelic dysplasia Maroteaux type (AMDM) in consanguineous families.
25703509 2015 Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature.
25342443 2014 Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.
25117468 2014 Cardiac fibrosis in end-stage human heart failure and the cardiac natriuretic peptide guanylyl cyclase system: regulation and therapeutic implications.
24699414 2014 Vasonatrin peptide stimulates both of the natriuretic peptide receptors, NPRA and NPRB.
24471569 2014 Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature.
24431432 2014 Bifurcation of axons from cranial sensory neurons is disabled in the absence of Npr2-induced cGMP signaling.
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