NPR1 (natriuretic peptide receptor 1) - Rat Genome Database

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Gene: NPR1 (natriuretic peptide receptor 1) Homo sapiens
Analyze
Symbol: NPR1
Name: natriuretic peptide receptor 1
RGD ID: 732882
HGNC Page HGNC:7943
Description: Enables guanylate cyclase activity; natriuretic peptide receptor activity; and peptide hormone binding activity. Involved in cGMP biosynthetic process and receptor guanylyl cyclase signaling pathway. Part of receptor complex. Implicated in myocardial infarction.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ANP-A; ANPa; ANPR-A; ANPRA; atrial natriuretic peptide receptor 1; atrial natriuretic peptide receptor type A; atrionatriuretic peptide receptor A; GC-A; guanylate cyclase A; GUC2A; GUCY2A; natriuretic peptide A type receptor; natriuretic peptide receptor A; natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A); NPR-A; NPRA; testicular tissue protein Li 20
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381153,678,688 - 153,693,992 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1153,678,688 - 153,693,992 (+)EnsemblGRCh38hg38GRCh38
GRCh371153,651,164 - 153,666,468 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361151,917,737 - 151,933,088 (+)NCBINCBI36Build 36hg18NCBI36
Build 341150,464,185 - 150,479,536NCBI
Celera1126,722,358 - 126,737,655 (+)NCBICelera
Cytogenetic Map1q21.3NCBI
HuRef1125,014,421 - 125,029,723 (+)NCBIHuRef
CHM1_11155,047,152 - 155,062,430 (+)NCBICHM1_1
T2T-CHM13v2.01152,815,953 - 152,831,256 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Renal hyporesponsiveness to atrial natriuretic peptide in congestive heart failure results from reduced atrial natriuretic peptide receptor concentrations. Bryan PM, etal., Am J Physiol Renal Physiol. 2007 May;292(5):F1636-44. Epub 2007 Jan 30.
2. Increased natriuretic peptide receptor A and C gene expression in rats with pressure-overload cardiac hypertrophy. Christoffersen TE, etal., Am J Physiol Heart Circ Physiol. 2006 Apr;290(4):H1635-41. Epub 2005 Nov 4.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
5. Novel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1. Koptides M, etal., Mol Cell Probes. 2001 Dec;15(6):357-61.
6. Missense mutation of exon 3 in the type A human natriuretic peptide receptor gene is associated with myocardial infarction. Nakayama T, etal., Med Sci Monit. 2003 Dec;9(12):CR505-10.
7. Natriuretic peptide/natriuretic peptide receptor-A (NPR-A) system has inhibitory effects in renal fibrosis in mice. Nishikimi T, etal., Regul Pept. 2009 Apr 10;154(1-3):44-53. doi: 10.1016/j.regpep.2009.02.006. Epub 2009 Feb 15.
8. Hypertension, cardiac hypertrophy, and sudden death in mice lacking natriuretic peptide receptor A. Oliver PM, etal., Proc Natl Acad Sci U S A 1997 Dec 23;94(26):14730-5.
9. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
10. Allelic variants of natriuretic peptide receptor genes are associated with family history of hypertension and cardiovascular phenotype. Pitzalis MV, etal., J Hypertens. 2003 Aug;21(8):1491-6.
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. Detection of membrane-bound guanylate cyclase activity in rat C6 glioma cells at different growth states following activation by natriuretic peptides. Sorci G, etal., Brain Res. 1995 Jun 12;683(1):51-8.
13. TA repeat variation, Npr1 expression, and blood pressure: impact of the Ace locus. Tremblay J, etal., Hypertension 2003 Jan;41(1):16-24.
Additional References at PubMed
PMID:1309330   PMID:1660465   PMID:1672777   PMID:1979052   PMID:2569967   PMID:7601467   PMID:7857923   PMID:7901875   PMID:7954658   PMID:7982997   PMID:8786123   PMID:9528788  
PMID:9618281   PMID:10581150   PMID:11704663   PMID:11952097   PMID:12121994   PMID:12135318   PMID:12477932   PMID:12483301   PMID:12506509   PMID:12547834   PMID:12727915   PMID:12794112  
PMID:12855709   PMID:14737067   PMID:14960748   PMID:15231748   PMID:15459247   PMID:15489334   PMID:15709752   PMID:15911067   PMID:15911069   PMID:15911610   PMID:16262696   PMID:16710414  
PMID:16778132   PMID:16875975   PMID:16986166   PMID:17460430   PMID:17672826   PMID:18306933   PMID:18360023   PMID:18383440   PMID:18436476   PMID:18713751   PMID:19086053   PMID:19126660  
PMID:19165164   PMID:19326473   PMID:19458086   PMID:19563399   PMID:19679847   PMID:20024606   PMID:20034689   PMID:20360068   PMID:20452482   PMID:20529973   PMID:20673868   PMID:20700369  
PMID:20977274   PMID:21366551   PMID:21375691   PMID:21586128   PMID:21828054   PMID:21873635   PMID:22001395   PMID:22133375   PMID:22199357   PMID:22949736   PMID:23186809   PMID:23382219  
PMID:24699414   PMID:24885858   PMID:25117468   PMID:25631869   PMID:25955817   PMID:26253614   PMID:26374856   PMID:27634171   PMID:28319085   PMID:28322253   PMID:28432261   PMID:28765884  
PMID:29409758   PMID:30169131   PMID:30696704   PMID:31430210   PMID:33375031   PMID:34666996   PMID:34671022   PMID:34930837   PMID:35696571   PMID:37080586   PMID:37356621  


Genomics

Comparative Map Data
NPR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381153,678,688 - 153,693,992 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1153,678,688 - 153,693,992 (+)EnsemblGRCh38hg38GRCh38
GRCh371153,651,164 - 153,666,468 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361151,917,737 - 151,933,088 (+)NCBINCBI36Build 36hg18NCBI36
Build 341150,464,185 - 150,479,536NCBI
Celera1126,722,358 - 126,737,655 (+)NCBICelera
Cytogenetic Map1q21.3NCBI
HuRef1125,014,421 - 125,029,723 (+)NCBIHuRef
CHM1_11155,047,152 - 155,062,430 (+)NCBICHM1_1
T2T-CHM13v2.01152,815,953 - 152,831,256 (+)NCBIT2T-CHM13v2.0
Npr1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39390,357,898 - 90,373,235 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl390,357,898 - 90,373,173 (-)EnsemblGRCm39 Ensembl
GRCm38390,450,591 - 90,465,928 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl390,450,591 - 90,465,866 (-)EnsemblGRCm38mm10GRCm38
MGSCv37390,254,514 - 90,269,788 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36390,536,519 - 90,552,265 (-)NCBIMGSCv36mm8
Celera390,488,131 - 90,503,567 (-)NCBICelera
Cytogenetic Map3F1NCBI
cM Map339.23NCBI
Npr1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82178,231,766 - 178,247,591 (-)NCBIGRCr8
mRatBN7.22175,934,181 - 175,950,118 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2175,934,181 - 175,949,505 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2183,074,109 - 183,089,476 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02181,096,360 - 181,111,730 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02175,696,310 - 175,711,670 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02189,840,403 - 189,857,032 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2189,840,403 - 189,856,090 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02209,271,276 - 209,287,892 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42182,724,916 - 182,740,242 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12182,675,021 - 182,690,348 (-)NCBI
Celera2169,869,831 - 169,885,101 (-)NCBICelera
Cytogenetic Map2q34NCBI
Npr1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955545323,956 - 338,097 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955545323,386 - 338,654 (+)NCBIChiLan1.0ChiLan1.0
NPR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2196,138,643 - 96,160,742 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1195,873,841 - 95,889,322 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01129,034,972 - 129,050,439 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11132,663,941 - 132,679,905 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1132,664,948 - 132,679,327 (+)Ensemblpanpan1.1panPan2
NPR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1743,382,246 - 43,396,464 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl743,283,418 - 43,396,027 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha742,875,275 - 42,888,999 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0743,331,940 - 43,345,662 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl743,153,680 - 43,345,719 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1743,034,052 - 43,047,778 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0743,087,306 - 43,101,030 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0743,370,926 - 43,384,656 (-)NCBIUU_Cfam_GSD_1.0
Npr1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505824,449,225 - 24,465,782 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365803,480,267 - 3,495,643 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365803,479,858 - 3,496,896 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NPR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl495,957,228 - 95,973,430 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1495,957,220 - 95,974,253 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24104,855,577 - 104,870,667 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NPR1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12010,115,319 - 10,131,933 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2010,115,105 - 10,131,200 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660389,492,241 - 9,508,732 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Npr1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248853,460,438 - 3,475,720 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248853,462,334 - 3,475,735 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NPR1
48 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q21.3(chr1:153641117-153752390)x3 copy number gain See cases [RCV000051530] Chr1:153641117..153752390 [GRCh38]
Chr1:153613593..153724866 [GRCh37]
Chr1:151880217..151991490 [NCBI36]
Chr1:1q21.3
benign|uncertain significance|conflicting data from submitters
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2
pathogenic
GRCh38/hg38 1q21.3(chr1:153641117-153752390)x3 copy number gain See cases [RCV000148158] Chr1:153641117..153752390 [GRCh38]
Chr1:153613593..153724866 [GRCh37]
Chr1:151880217..151991490 [NCBI36]
Chr1:1q21.3
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000906.4(NPR1):c.1401T>A (p.Asp467Glu) single nucleotide variant not specified [RCV004321246] Chr1:153683741 [GRCh38]
Chr1:153656217 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.17G>T (p.Arg6Leu) single nucleotide variant not specified [RCV004289640] Chr1:153679125 [GRCh38]
Chr1:153651601 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.983A>G (p.Gln328Arg) single nucleotide variant not specified [RCV004326625] Chr1:153681241 [GRCh38]
Chr1:153653717 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.2252T>A (p.Ile751Asn) single nucleotide variant not specified [RCV004288454] Chr1:153688056 [GRCh38]
Chr1:153660532 [GRCh37]
Chr1:1q21.3
uncertain significance
Single allele duplication not provided [RCV000677956] Chr1:153615996..153724866 [GRCh37]
Chr1:1q21.3
uncertain significance
GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3 copy number gain not provided [RCV000684655] Chr1:150853044..154647786 [GRCh37]
Chr1:1q21.3
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q21.3(chr1:153488723-153750339)x3 copy number gain not provided [RCV000749192] Chr1:153488723..153750339 [GRCh37]
Chr1:1q21.3
benign
NM_000906.4(NPR1):c.2899G>A (p.Glu967Lys) single nucleotide variant not provided [RCV000948565] Chr1:153689947 [GRCh38]
Chr1:153662423 [GRCh37]
Chr1:1q21.3
benign
NM_000906.4(NPR1):c.2406C>T (p.Arg802=) single nucleotide variant not provided [RCV000892463] Chr1:153688210 [GRCh38]
Chr1:153660686 [GRCh37]
Chr1:1q21.3
benign
NM_000906.4(NPR1):c.1485-10C>T single nucleotide variant not provided [RCV000883588] Chr1:153684954 [GRCh38]
Chr1:153657430 [GRCh37]
Chr1:1q21.3
likely benign
NM_000906.4(NPR1):c.1605+9G>A single nucleotide variant not provided [RCV000883589] Chr1:153685093 [GRCh38]
Chr1:153657569 [GRCh37]
Chr1:1q21.3
likely benign
GRCh37/hg19 1q21.3(chr1:153321482-153835605)x3 copy number gain not provided [RCV000847221] Chr1:153321482..153835605 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.1452C>G (p.Leu484=) single nucleotide variant not provided [RCV001200365] Chr1:153683792 [GRCh38]
Chr1:153656268 [GRCh37]
Chr1:1q21.3
likely benign
NM_000906.4(NPR1):c.2661G>A (p.Ala887=) single nucleotide variant not provided [RCV000925546] Chr1:153689284 [GRCh38]
Chr1:153661760 [GRCh37]
Chr1:1q21.3
likely benign
NM_000906.4(NPR1):c.1854G>A (p.Gly618=) single nucleotide variant not provided [RCV000892462] Chr1:153686741 [GRCh38]
Chr1:153659217 [GRCh37]
Chr1:1q21.3
benign
NM_000906.4(NPR1):c.2401T>C (p.Leu801=) single nucleotide variant not provided [RCV000886468] Chr1:153688205 [GRCh38]
Chr1:153660681 [GRCh37]
Chr1:1q21.3
likely benign
GRCh37/hg19 1q21.3(chr1:153659094-154307972)x3 copy number gain not provided [RCV001005142] Chr1:153659094..154307972 [GRCh37]
Chr1:1q21.3
uncertain significance
GRCh37/hg19 1q21.3(chr1:153061323-153904594)x3 copy number gain not provided [RCV001005141] Chr1:153061323..153904594 [GRCh37]
Chr1:1q21.3
uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NC_000001.10:g.(?_149895434)_(156851434_?)dup duplication Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001958273]|Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001958271]|Kostmann syndrome [RCV003120769]|MHC class II deficiency [RCV001992607] Chr1:149895434..156851434 [GRCh37]
Chr1:1q21.2-23.1
uncertain significance
NM_000906.4(NPR1):c.3091G>C (p.Glu1031Gln) single nucleotide variant not specified [RCV004310693] Chr1:153693165 [GRCh38]
Chr1:153665641 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.1574G>A (p.Arg525Gln) single nucleotide variant not specified [RCV004113753] Chr1:153685053 [GRCh38]
Chr1:153657529 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.2885G>A (p.Arg962His) single nucleotide variant not specified [RCV004239846] Chr1:153689933 [GRCh38]
Chr1:153662409 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.1340A>G (p.Tyr447Cys) single nucleotide variant not specified [RCV004148221] Chr1:153683452 [GRCh38]
Chr1:153655928 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.1667C>T (p.Thr556Ile) single nucleotide variant not specified [RCV004146068] Chr1:153685867 [GRCh38]
Chr1:153658343 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.2068G>A (p.Glu690Lys) single nucleotide variant not specified [RCV004160605] Chr1:153687332 [GRCh38]
Chr1:153659808 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.2620A>G (p.Ser874Gly) single nucleotide variant not specified [RCV004191845] Chr1:153689243 [GRCh38]
Chr1:153661719 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.203C>A (p.Ala68Glu) single nucleotide variant not specified [RCV004176422] Chr1:153679311 [GRCh38]
Chr1:153651787 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.1531C>T (p.Arg511Cys) single nucleotide variant not specified [RCV004129607] Chr1:153685010 [GRCh38]
Chr1:153657486 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.175G>A (p.Val59Met) single nucleotide variant not specified [RCV004188565] Chr1:153679283 [GRCh38]
Chr1:153651759 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.1703G>A (p.Arg568His) single nucleotide variant not specified [RCV004082763] Chr1:153686145 [GRCh38]
Chr1:153658621 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.1016T>C (p.Phe339Ser) single nucleotide variant not specified [RCV004104470] Chr1:153681274 [GRCh38]
Chr1:153653750 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.2105C>T (p.Thr702Met) single nucleotide variant not specified [RCV004095964] Chr1:153687646 [GRCh38]
Chr1:153660122 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.773C>G (p.Ala258Gly) single nucleotide variant not specified [RCV004103445] Chr1:153680552 [GRCh38]
Chr1:153653028 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.2399C>T (p.Thr800Met) single nucleotide variant not specified [RCV004262469] Chr1:153688203 [GRCh38]
Chr1:153660679 [GRCh37]
Chr1:1q21.3
likely benign
NM_000906.4(NPR1):c.346C>T (p.Pro116Ser) single nucleotide variant not specified [RCV004276123] Chr1:153679454 [GRCh38]
Chr1:153651930 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.1884C>G (p.Ser628Arg) single nucleotide variant not specified [RCV004273394] Chr1:153687036 [GRCh38]
Chr1:153659512 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.789G>C (p.Leu263Phe) single nucleotide variant not specified [RCV004276344] Chr1:153680568 [GRCh38]
Chr1:153653044 [GRCh37]
Chr1:1q21.3
uncertain significance
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV003329522] Chr1:142535935..157648813 [GRCh37]
Chr1:1q12-23.1
pathogenic
NM_000906.4(NPR1):c.2120T>C (p.Leu707Pro) single nucleotide variant not specified [RCV004351330] Chr1:153687661 [GRCh38]
Chr1:153660137 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.3164G>C (p.Arg1055Thr) single nucleotide variant not specified [RCV004363802] Chr1:153693392 [GRCh38]
Chr1:153665868 [GRCh37]
Chr1:1q21.3
uncertain significance
GRCh37/hg19 1q21.3(chr1:153460453-153737619)x3 copy number gain not provided [RCV003484040] Chr1:153460453..153737619 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.1359C>T (p.Pro453=) single nucleotide variant not provided [RCV003409043] Chr1:153683471 [GRCh38]
Chr1:153655947 [GRCh37]
Chr1:1q21.3
likely benign
NM_000906.4(NPR1):c.1620C>T (p.Tyr540=) single nucleotide variant not provided [RCV003409044] Chr1:153685820 [GRCh38]
Chr1:153658296 [GRCh37]
Chr1:1q21.3
likely benign
GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 copy number gain not specified [RCV003986717] Chr1:144368497..158992086 [GRCh37]
Chr1:1q21.1-23.1
pathogenic
GRCh37/hg19 1q21.3(chr1:153354333-153703053)x3 copy number gain not specified [RCV003987106] Chr1:153354333..153703053 [GRCh37]
Chr1:1q21.3
uncertain significance
GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3 copy number gain not specified [RCV003987261] Chr1:146577511..157155587 [GRCh37]
Chr1:1q21.1-23.1
pathogenic
NM_000906.4(NPR1):c.1013A>G (p.Asn338Ser) single nucleotide variant not specified [RCV004491092] Chr1:153681271 [GRCh38]
Chr1:153653747 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.1417G>A (p.Glu473Lys) single nucleotide variant not specified [RCV004491093] Chr1:153683757 [GRCh38]
Chr1:153656233 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.1492C>G (p.Gln498Glu) single nucleotide variant not specified [RCV004491094] Chr1:153684971 [GRCh38]
Chr1:153657447 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.2195T>C (p.Ile732Thr) single nucleotide variant not specified [RCV004491097] Chr1:153687736 [GRCh38]
Chr1:153660212 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.2812G>A (p.Gly938Arg) single nucleotide variant not specified [RCV004491099] Chr1:153689860 [GRCh38]
Chr1:153662336 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.2839C>A (p.Arg947Ser) single nucleotide variant not specified [RCV004491100] Chr1:153689887 [GRCh38]
Chr1:153662363 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.2884C>T (p.Arg962Cys) single nucleotide variant not specified [RCV004491101] Chr1:153689932 [GRCh38]
Chr1:153662408 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.1952A>G (p.His651Arg) single nucleotide variant not specified [RCV004491095] Chr1:153687216 [GRCh38]
Chr1:153659692 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.20C>A (p.Pro7His) single nucleotide variant not specified [RCV004491096] Chr1:153679128 [GRCh38]
Chr1:153651604 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.2629A>G (p.Ile877Val) single nucleotide variant not specified [RCV004491098] Chr1:153689252 [GRCh38]
Chr1:153661728 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.781G>A (p.Ala261Thr) single nucleotide variant not specified [RCV004491103] Chr1:153680560 [GRCh38]
Chr1:153653036 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.793G>A (p.Gly265Arg) single nucleotide variant not specified [RCV004491104] Chr1:153680572 [GRCh38]
Chr1:153653048 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.1906C>T (p.Arg636Trp) single nucleotide variant not specified [RCV004644107] Chr1:153687058 [GRCh38]
Chr1:153659534 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.2597C>T (p.Thr866Met) single nucleotide variant not specified [RCV004644108] Chr1:153689220 [GRCh38]
Chr1:153661696 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000906.4(NPR1):c.577G>A (p.Glu193Lys) single nucleotide variant not specified [RCV004650320] Chr1:153679685 [GRCh38]
Chr1:153652161 [GRCh37]
Chr1:1q21.3
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR320Ahsa-miR-320aMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI22134529

Predicted Target Of
Summary Value
Count of predictions:516
Count of miRNA genes:372
Interacting mature miRNAs:416
Transcripts:ENST00000368677, ENST00000368680
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407009161GWAS658137_Hmean arterial pressure QTL GWAS658137 (human)0.0000004mean arterial pressuremean arterial blood pressure (CMO:0000009)1153689947153689948Human
407395973GWAS1044949_Hsystolic blood pressure QTL GWAS1044949 (human)5e-14systolic blood pressuresystolic blood pressure (CMO:0000004)1153689947153689948Human
406985519GWAS634495_Hsystolic blood pressure QTL GWAS634495 (human)1e-22systolic blood pressuresystolic blood pressure (CMO:0000004)1153689947153689948Human
407199829GWAS848805_Hsystolic blood pressure QTL GWAS848805 (human)3e-09systolic blood pressuresystolic blood pressure (CMO:0000004)1153688056153688057Human
1357381BW57_HBody weight QTL 57 (human)10.0001Body weightfat free mass after exercise training1140630236166630236Human
407210676GWAS859652_Hsystolic blood pressure QTL GWAS859652 (human)1e-09systolic blood pressuresystolic blood pressure (CMO:0000004)1153689947153689948Human
407417531GWAS1066507_Hdiastolic blood pressure QTL GWAS1066507 (human)2e-15diastolic blood pressurediastolic blood pressure (CMO:0000005)1153689947153689948Human
407089941GWAS738917_Hdiastolic blood pressure QTL GWAS738917 (human)0.000009diastolic blood pressurediastolic blood pressure (CMO:0000005)1153685821153685822Human
407008052GWAS657028_Hsystolic blood pressure QTL GWAS657028 (human)6e-08systolic blood pressuresystolic blood pressure (CMO:0000004)1153689947153689948Human
407415646GWAS1064622_Hpulse pressure measurement QTL GWAS1064622 (human)9e-08pulse pressure measurementpulse pressure (CMO:0000292)1153689947153689948Human
407114653GWAS763629_Hcardiovascular disease QTL GWAS763629 (human)8e-10cardiovascular disease1153689947153689948Human
407399602GWAS1048578_Hmean arterial pressure QTL GWAS1048578 (human)8e-14mean arterial pressuremean arterial blood pressure (CMO:0000009)1153689947153689948Human
407354619GWAS1003595_Hdiastolic blood pressure QTL GWAS1003595 (human)4e-12diastolic blood pressurediastolic blood pressure (CMO:0000005)1153689947153689948Human
406996511GWAS645487_Heducational attainment QTL GWAS645487 (human)0.000002educational attainment1153686004153686005Human
407389493GWAS1038469_Hsystolic blood pressure QTL GWAS1038469 (human)4e-14systolic blood pressuresystolic blood pressure (CMO:0000004)1153689947153689948Human
407395830GWAS1044806_Hsystolic blood pressure QTL GWAS1044806 (human)1e-15systolic blood pressuresystolic blood pressure (CMO:0000004)1153689947153689948Human

Markers in Region
RH99065  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371153,666,320 - 153,666,439UniSTSGRCh37
Build 361151,932,944 - 151,933,063RGDNCBI36
Celera1126,737,507 - 126,737,626RGD
Cytogenetic Map1q21-q22UniSTS
HuRef1125,029,575 - 125,029,694UniSTS
GeneMap99-GB4 RH Map1555.98UniSTS
NPR1_7841  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371153,665,837 - 153,666,602UniSTSGRCh37
Build 361151,932,461 - 151,933,226RGDNCBI36
Celera1126,737,024 - 126,737,789RGD
HuRef1125,029,091 - 125,029,857UniSTS
G15870  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371153,666,148 - 153,666,281UniSTSGRCh37
Build 361151,932,772 - 151,932,905RGDNCBI36
Celera1126,737,335 - 126,737,468RGD
Cytogenetic Map1q21-q22UniSTS
HuRef1125,029,403 - 125,029,536UniSTS
RH68403  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371153,666,219 - 153,666,413UniSTSGRCh37
Build 361151,932,843 - 151,933,037RGDNCBI36
Celera1126,737,406 - 126,737,600RGD
Cytogenetic Map1q21-q22UniSTS
HuRef1125,029,474 - 125,029,668UniSTS
GeneMap99-GB4 RH Map1552.61UniSTS
NCBI RH Map11270.6UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2370 2788 2226 4907 1719 2308 5 620 1739 462 2246 7045 6271 47 3693 842 1723 1577 172 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_000906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005245218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB010491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB012188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB046463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB046472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF190631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU326310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S72628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X15357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000368677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1153,688,724 - 153,693,968 (+)Ensembl
Ensembl Acc Id: ENST00000368680   ⟹   ENSP00000357669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1153,678,688 - 153,693,992 (+)Ensembl
Ensembl Acc Id: ENST00000413826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1153,680,801 - 153,681,792 (+)Ensembl
RefSeq Acc Id: NM_000906   ⟹   NP_000897
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381153,678,688 - 153,693,992 (+)NCBI
GRCh371153,651,093 - 153,666,468 (+)NCBI
Build 361151,917,737 - 151,933,088 (+)NCBI Archive
HuRef1125,014,421 - 125,029,723 (+)ENTREZGENE
CHM1_11155,047,152 - 155,062,430 (+)NCBI
T2T-CHM13v2.01152,815,953 - 152,831,256 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005245218   ⟹   XP_005245275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381153,678,688 - 153,693,992 (+)NCBI
GRCh371153,651,093 - 153,666,468 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001374   ⟹   XP_016856863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381153,678,688 - 153,687,681 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054336796   ⟹   XP_054192771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01152,815,953 - 152,831,256 (+)NCBI
RefSeq Acc Id: XM_054336797   ⟹   XP_054192772
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01152,815,953 - 152,824,946 (+)NCBI
RefSeq Acc Id: NP_000897   ⟸   NM_000906
- Peptide Label: precursor
- UniProtKB: Q5SR08 (UniProtKB/Swiss-Prot),   B0ZBF0 (UniProtKB/Swiss-Prot),   Q6P4Q3 (UniProtKB/Swiss-Prot),   P16066 (UniProtKB/Swiss-Prot),   A0A140VJE6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005245275   ⟸   XM_005245218
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016856863   ⟸   XM_017001374
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000357669   ⟸   ENST00000368680
RefSeq Acc Id: XP_054192771   ⟸   XM_054336796
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054192772   ⟸   XM_054336797
- Peptide Label: isoform X2
Protein Domains
Guanylate cyclase   Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P16066-F1-model_v2 AlphaFold P16066 1-1061 view protein structure

Promoters
RGD ID:6786147
Promoter ID:HG_KWN:5212
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3
Transcripts:ENST00000368680
Position:
Human AssemblyChrPosition (strand)Source
Build 361151,916,976 - 151,918,427 (+)MPROMDB
RGD ID:6857266
Promoter ID:EPDNEW_H1798
Type:initiation region
Name:NPR1_1
Description:natriuretic peptide receptor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381153,678,688 - 153,678,748EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7943 AgrOrtholog
COSMIC NPR1 COSMIC
Ensembl Genes ENSG00000169418 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000368680 ENTREZGENE
  ENST00000368680.4 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.70.1230 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.2300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.250.780 UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000169418 GTEx
HGNC ID HGNC:7943 ENTREZGENE
Human Proteome Map NPR1 Human Proteome Map
InterPro A/G_cyclase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A/G_cyclase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANF_lig-bd_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANPR/GUC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyclic_nucleotide_synthase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide_cyclase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peripla_BP_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4881 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4881 ENTREZGENE
OMIM 108960 OMIM
PANTHER ATRIAL NATRIURETIC PEPTIDE RECEPTOR 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GUANYLYL CYCLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ANF_receptor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Guanylate_cyc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase_Tyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31736 PharmGKB
PRINTS NATPEPTIDER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ANF_RECEPTORS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GUANYLATE_CYCLASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GUANYLATE_CYCLASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CYCc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53822 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55073 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VJE6 ENTREZGENE, UniProtKB/TrEMBL
  ANPRA_HUMAN UniProtKB/Swiss-Prot
  B0ZBF0 ENTREZGENE
  B0ZBF1_HUMAN UniProtKB/TrEMBL
  L8E7A1_HUMAN UniProtKB/TrEMBL
  P16066 ENTREZGENE
  Q5SR08 ENTREZGENE
  Q6P4Q3 ENTREZGENE
UniProt Secondary B0ZBF0 UniProtKB/Swiss-Prot
  Q5SR08 UniProtKB/Swiss-Prot
  Q6P4Q3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-03-05 NPR1  natriuretic peptide receptor 1  NPR1  natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)  Symbol and/or name change 5135510 APPROVED