Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4882
Gene name	Natriuretic peptide receptor 2
Gene symbol	NPR2
Synonyms (NCBI Gene)	AMD1AMDMANPRBANPbECDMGC-BGCBGUC2BGUCY2BNPRBNPRBiSNSK
Chromosome	9
Chromosome location	9p13.3
Summary	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 intracell

Show/Hide all (29)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28929479	T>A	Pathogenic	Intron variant, missense variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs28931581	C>A,G	Pathogenic	Intron variant, missense variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs28931582	T>G	Pathogenic	Intron variant, missense variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs121912739	C>T	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, stop gained, coding sequence variant, upstream transcript variant
rs139036657	G>A,C	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs587777596	C>T	Pathogenic	Missense variant, coding sequence variant
rs587777597	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs753644648	G>A,T	Likely-pathogenic	Missense variant, intron variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs757744435	A>G,T	Likely-pathogenic	Missense variant, intron variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs758478717	C>T	Pathogenic	Missense variant, intron variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs766256429	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs796065355	T>A,C	Pathogenic	Upstream transcript variant, coding sequence variant, missense variant, genic upstream transcript variant, intron variant
rs796065356	C>A,G	Pathogenic	Upstream transcript variant, coding sequence variant, missense variant, genic upstream transcript variant, 5 prime UTR variant
rs879255257	T>-	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant
rs886042851	ATCA>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs969576919	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057518817	GTGGTCCTTTC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057519324	C>T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1057519333	T>C	Pathogenic	Coding sequence variant, missense variant
rs1057519334	C>-	Pathogenic	Coding sequence variant, stop gained
rs1057519335	T>A	Pathogenic	Genic upstream transcript variant, intron variant, missense variant, coding sequence variant, upstream transcript variant
rs1085307906	G>A	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant
rs1085308030	C>T	Likely-pathogenic	Genic upstream transcript variant, intron variant, missense variant, coding sequence variant, upstream transcript variant
rs1554672061	G>C	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant, upstream transcript variant, intron variant
rs1554672893	G>C	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, upstream transcript variant, splice donor variant
rs1554673485	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1554673888	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1588057922	T>G	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, stop gained, coding sequence variant, upstream transcript variant
rs1588068987	G>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (12)

miRTarBase ID	miRNA	Experiments
MIRT1191215	hsa-miR-129-5p	CLIP-seq
MIRT1191216	hsa-miR-2113	CLIP-seq
MIRT1191217	hsa-miR-4464	CLIP-seq
MIRT1191218	hsa-miR-4474-3p	CLIP-seq
MIRT1191219	hsa-miR-4748	CLIP-seq
MIRT1191220	hsa-miR-548ag	CLIP-seq
MIRT1191221	hsa-miR-548ai	CLIP-seq
MIRT2055382	hsa-miR-153	CLIP-seq
MIRT1191218	hsa-miR-4474-3p	CLIP-seq
MIRT2055383	hsa-miR-448	CLIP-seq
MIRT2055384	hsa-miR-4687-3p	CLIP-seq
MIRT2055385	hsa-miR-587	CLIP-seq

103

Show/Hide all (103)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0001503	Process	Ossification	IEA
GO:0001541	Process	Ovarian follicle development	IEA
GO:0001549	Process	Cumulus cell differentiation	IEA
GO:0001568	Process	Blood vessel development	IEA
GO:0001570	Process	Vasculogenesis	IEA
GO:0001945	Process	Lymph vessel development	IEA
GO:0001958	Process	Endochondral ossification	IEA
GO:0001964	Process	Startle response	IEA
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0003417	Process	Growth plate cartilage development	IEA
GO:0004383	Function	Guanylate cyclase activity	IBA
GO:0004383	Function	Guanylate cyclase activity	IDA	1672777
GO:0004383	Function	Guanylate cyclase activity	IEA
GO:0004383	Function	Guanylate cyclase activity	IMP	26980729
GO:0004672	Function	Protein kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	16870210
GO:0005524	Function	ATP binding	IEA
GO:0005525	Function	GTP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	24001744, 24471569, 26980729
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005929	Component	Cilium	IEA
GO:0006182	Process	CGMP biosynthetic process	IBA
GO:0006182	Process	CGMP biosynthetic process	IDA	1672777
GO:0006182	Process	CGMP biosynthetic process	IEA
GO:0007033	Process	Vacuole organization	IEA
GO:0007168	Process	Receptor guanylyl cyclase signaling pathway	IBA
GO:0007168	Process	Receptor guanylyl cyclase signaling pathway	IDA	1672777
GO:0007168	Process	Receptor guanylyl cyclase signaling pathway	IEA
GO:0007168	Process	Receptor guanylyl cyclase signaling pathway	IMP	26980729
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IEA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007281	Process	Germ cell development	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007338	Process	Single fertilization	IEA
GO:0007409	Process	Axonogenesis	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0008015	Process	Blood circulation	IEA
GO:0008217	Process	Regulation of blood pressure	TAS	10082481
GO:0009190	Process	Cyclic nucleotide biosynthetic process	IEA
GO:0009611	Process	Response to wounding	IEA
GO:0009725	Process	Response to hormone	IEA
GO:0016020	Component	Membrane	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0016849	Function	Phosphorus-oxygen lyase activity	IEA
GO:0016941	Function	Natriuretic peptide receptor activity	IBA
GO:0016941	Function	Natriuretic peptide receptor activity	IDA	1660465, 1672777
GO:0016941	Function	Natriuretic peptide receptor activity	IEA
GO:0016941	Function	Natriuretic peptide receptor activity	IMP	26980729
GO:0017046	Function	Peptide hormone binding	IBA
GO:0017046	Function	Peptide hormone binding	IEA
GO:0017046	Function	Peptide hormone binding	IPI	1660465, 26980729
GO:0019228	Process	Neuronal action potential	IEA
GO:0021562	Process	Vestibulocochlear nerve development	IEA
GO:0021647	Process	Vestibulocochlear nerve maturation	IEA
GO:0021675	Process	Nerve development	IEA
GO:0030540	Process	Female genitalia development	IEA
GO:0034699	Process	Response to luteinizing hormone	IEA
GO:0035108	Process	Limb morphogenesis	IEA
GO:0035112	Process	Genitalia morphogenesis	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0035483	Process	Gastric emptying	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035988	Process	Chondrocyte proliferation	IEA
GO:0036342	Process	Post-anal tail morphogenesis	IEA
GO:0042562	Function	Hormone binding	IPI	1672777
GO:0042802	Function	Identical protein binding	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0045202	Component	Synapse	IEA
GO:0046068	Process	CGMP metabolic process	IEA
GO:0048546	Process	Digestive tract morphogenesis	IEA
GO:0048565	Process	Digestive tract development	IEA
GO:0048599	Process	Oocyte development	IEA
GO:0048668	Process	Collateral sprouting	IEA
GO:0048745	Process	Smooth muscle tissue development	IEA
GO:0050872	Process	White fat cell differentiation	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0051276	Process	Chromosome organization	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051447	Process	Negative regulation of meiotic cell cycle	IEA
GO:0060173	Process	Limb development	IEA
GO:0060348	Process	Bone development	IEA
GO:0060385	Process	Axonogenesis involved in innervation	IEA
GO:0060466	Process	Activation of meiosis involved in egg activation	IEA
GO:0061042	Process	Vascular wound healing	IEA
GO:0061939	Process	C-di-GMP signaling	IEA
GO:0071321	Process	Cellular response to cGMP	IEA
GO:0071774	Process	Response to fibroblast growth factor	IEA
GO:0097011	Process	Cellular response to granulocyte macrophage colony-stimulating factor stimulus	IEP	14687666
GO:0097194	Process	Execution phase of apoptosis	IEA
GO:0098868	Process	Bone growth	IEA
GO:0098868	Process	Bone growth	ISS
GO:1900194	Process	Negative regulation of oocyte maturation	IEA
GO:1901653	Process	Cellular response to peptide	IEA
GO:1902074	Process	Response to salt	IEA
GO:1903537	Process	Meiotic cell cycle process involved in oocyte maturation	IEA

MIM	HGNC	e!Ensembl
108961	7944	ENSG00000159899

P20594

Protein name

Atrial natriuretic peptide receptor 2 (EC 4.6.1.2) (Atrial natriuretic peptide receptor type B) (ANP-B) (ANPR-B) (NPR-B) (Guanylate cyclase B) (GC-B)

Protein 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. {ECO:0000269|PubMed:15146390, ECO:0000269|PubMed:1672777, ECO:0000269|

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01094	ANF_receptor	44 → 399	Receptor family ligand binding region	Family
PF07714	PK_Tyr_Ser-Thr	518 → 786	Protein tyrosine and serine/threonine kinase	Domain
PF00211	Guanylate_cyc	852 → 1038	Adenylate and Guanylate cyclase catalytic domain	Domain

Sequence

MALPSLLLLVAALAGGVRPPGARNLTLAVVLPEHNLSYAWAWPRVGPAVALAVEALGRAL
PVDLRFVSSELEGACSEYLAPLSAVDLKLYHDPDLLLGPGCVYPAASVARFASHWRLPLL
TAGAVASGFSAKNDHYRTLVRTGPSAPKLGEFVVTLHGHFNWTARAALLYLDARTDDRPH
YFTIEGVFEALQGSNLSVQHQVYAREPGGPEQATHFIRANGRIVYICGPLEMLHEILLQA
QRENLTNGDYVFFYLDVFGESLRAGPTRATGRPWQDNRTREQAQALREAFQTVLVITYRE
PPNPEYQEFQNRLLIRAREDFGVELGPSLMNLIAGCFYDGILLYAEVLNETIQEGGTRED
GLRIVEKMQGRRYHGVTGLVVMDKNNDRETDFVLWAMGDLDSGDFQPAAHYSGAEKQIWW
TGRPIPWVKGAPPSDNPPCAFDLDDPSCDKTPLSTLAIVALGTGITFIMFGVSSFLIFRK
LMLEKELASMLWRIRWEELQFGNSERYHKGAGSRLTLSLRGSSYGSLMTAHGKYQIFANT
GHFKGNVVAIKHVNKKRIELTRQVLFELKHMRDVQFNHLTRFIGACIDPPNICIVTEYCP
RGSLQDILENDSINLDWMFRYSLINDLVKGMAFLHNSIISSHGSLKSSNCVVDSRFVLKI
TDYGLASFRSTAEPDDSHALYAKKLWTAPELLSGNPLPTTGMQKADVYSFGIILQEIALR
SGPFYLEGLDLSPKEIVQKVRNGQRPYFRPSIDRTQLNEELVLLMERCWAQDPAERPDFG
QIKGFIRRFNKEGGTSILDNLLLRMEQYANNLEKLVEERTQAYLEEKRKAEALLYQILPH
SVAEQLKRGETVQAEAFDSVTIYFSDIVGFTALSAESTPMQVVTLLNDLYTCFDAIIDNF
DVYKVETIGDAYMVVSGLPGRNGQRHAPEIARMALALLDAVSSFRIRHRPHDQLRLRIGV
HTGPVCAGVVGLKMPRYCLFGDTVNTASRMESNGQALKIHVSSTTKDALDELGCFQLELR
GDVEMKGKGKMRTYWLLGERKGPPGLL

Sequence length

1047

Interactions

View interactions

	KEGG		Reactome
	Purine metabolism Metabolic pathways cGMP-PKG signaling pathway Hormone signaling Vascular smooth muscle contraction Oxytocin signaling pathway		Physiological factors

910

Show/Hide Causal Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acromesomelic dysplasia 1, Maroteaux type	Likely pathogenic; Pathogenic	rs2132081744, rs2132090317, rs61758531, rs756858649, rs1828094222, rs2132066003, rs2132066904, rs2132082975, rs1180840764, rs370158184, rs768852284, rs2132090998, rs1452208078, rs2132090468, rs2132066161 View all (39 more)	RCV001378048 RCV001730000 RCV001808015 RCV001808224 RCV001808880 RCV001999856 RCV001887174 RCV002037864 RCV001942099 RCV002026180 RCV001951316 RCV001959140 RCV001944334 RCV002227899 RCV002238732 RCV002238733 RCV002264895 RCV002264896 RCV002615434 RCV002612397 RCV000190426 RCV002885024 RCV002880521 RCV003016365 RCV003232887 RCV003781100 RCV003781102 RCV003792529 RCV003806068 RCV000019363 RCV000019364 RCV000019365 RCV000416343 RCV000416349 RCV000416331 RCV000416364 RCV000416371 RCV003766658 RCV001851496 RCV000526471 RCV005209511 RCV000702502 RCV000856598 RCV001805952 RCV001860592 RCV001260934 RCV001261879 RCV001262118 RCV001263189 RCV001263531 RCV001263532 RCV001264759 RCV001264761 RCV001248807 RCV003770477
Craniosynostosis syndrome	Likely pathogenic	rs757744435, rs1057518817	RCV000414841 RCV000415200
Disproportionate short stature	Pathogenic	rs2132082177	RCV002260545
Epilepsy, familial focal, with variable foci 2	Likely pathogenic; Pathogenic	rs771373457, rs1588057922	RCV000985136 RCV000985134 RCV000985135
Growth delay	Likely pathogenic	rs757744435, rs1057518817	RCV000414841 RCV000415200
Intellectual disability	Likely pathogenic	rs1828368702	RCV001255361
Limb undergrowth	Likely pathogenic	rs757744435, rs1057518817	RCV000414841 RCV000415200
Monogenic short statue	Pathogenic	rs1554674642	RCV005865331
NPR2-related disorder	Likely pathogenic; Pathogenic	rs879255257, rs2491053131, rs897171604, rs771373457, rs1554674642, rs969576919	RCV005406920 RCV003324476 RCV004534452 RCV002469165 RCV004737596 RCV003994041
Short stature	Likely pathogenic	rs1828199038	RCV001813605
Short stature with nonspecific skeletal abnormalities	Likely pathogenic; Pathogenic	rs2132081744, rs2132101022, rs879255257, rs796065355, rs2491029660, rs1057519324, rs1311857509, rs796065356, rs753472316	RCV001535596 RCV002225247 RCV000190427 RCV000190429 RCV004759338 RCV001262820 RCV002283524 RCV001293679 RCV001293708
Tall stature-scoliosis-macrodactyly of the great toes syndrome	Likely pathogenic; Pathogenic	rs2132081744, rs2132081428, rs61758531, rs2132066003, rs2132066904, rs2132082975, rs1180840764, rs370158184, rs768852284, rs2132090998, rs1452208078, rs587777595, rs587777596, rs587777597, rs767258629 View all (22 more)	RCV001378048 RCV001730465 RCV001885286 RCV001999856 RCV001887174 RCV002037864 RCV001942099 RCV002026180 RCV001951316 RCV001959140 RCV001944334 RCV000132560 RCV000132561 RCV000132562 RCV003774832 RCV002615434 RCV002612397 RCV001385132 RCV002885024 RCV002880521 RCV003016365 RCV003781100 RCV003781102 RCV003792529 RCV003806068 RCV001385133 RCV003766174 RCV003766658 RCV001851496 RCV000526471 RCV005209511 RCV000702502 RCV001860592 RCV003769034 RCV001385134 RCV001253230 RCV003770477
Trident hand	Likely pathogenic	rs757744435, rs1057518817	RCV000414841 RCV000415200

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acromesomelic dysplasia	Benign	rs58759471	RCV000352779
Clear cell carcinoma of kidney	Benign; Likely benign	rs201550050	RCV005907241
Colon adenocarcinoma	Conflicting classifications of pathogenicity	rs200129431	RCV005903205
Short stature with nonspecific skeletal abnormalities 1	Uncertain significance; Conflicting classifications of pathogenicity	rs764963912, rs140014632, rs138315850, rs144940095	RCV005395001 RCV005406887 RCV005394839 RCV005361506

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acromesomelic dysplasia	Associate	22691581, 29322508, 34565054, 35455946
Acromesomelic dysplasia Maroteaux type	Associate	15146390, 18945719, 22691581, 25703509, 32506268, 32720985, 35455946, 40551241
Adamantinoma	Associate	28661490, 33713577
Bicuspid Aortic Valve Disease	Associate	36071494
Bone Diseases Developmental	Associate	34565054
Brachyolmia Type 2	Associate	22691581, 25703509, 35455946
Cardiomyopathy Dilated	Associate	33713577
Carotid Stenosis	Associate	22421372
CATSHL syndrome	Associate	25703509, 32282051
Chromosome Aberrations	Associate	33713577
Diabetes Mellitus Type 2	Associate	33788629
Disorders of Excessive Somnolence	Associate	26888452
Dwarfism	Associate	18945719
Dwarfism Pituitary	Associate	36714562
Dwarfism tall vertebrae	Associate	22691581
Essential Hypertension	Associate	10082481
Growth Disorders	Associate	18945719, 25703509, 32282051, 32720985, 34565054, 35250876, 35455946, 35741827, 36714562, 37501190, 37605180, 39994698
Heart Failure	Associate	11511425, 25117468
Heart Septal Defects Ventricular	Associate	33713577
HEM dysplasia	Associate	15146390, 28661490, 28768959
Leri Weil syndrome	Associate	34565054
Megalodactyly	Associate	32282051
Musculoskeletal Abnormalities	Associate	37501190, 40551241
Obesity	Associate	37399741
Omodysplasia type 1	Associate	34565054
Osteochondrodysplasias	Associate	32282051
Salter Harris Fractures	Associate	36714562
Severe Acute Respiratory Syndrome	Associate	32720985
Short Stature Idiopathic Autosomal	Associate	25703509, 28661490, 32720985, 33713577, 33850126, 34565054, 35741827
Simpson Golabi Behmel syndrome	Associate	23827346, 28450398
Sleep Apnea Syndromes	Associate	26888452
Vaginosis Bacterial	Associate	35455946
Ventricular Dysfunction Left	Associate	25117468

NPR2 (natriuretic peptide receptor 2)