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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4882
Gene name Gene Name - the full gene name approved by the HGNC.	Natriuretic peptide receptor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NPR2
Synonyms (NCBI Gene) Gene synonyms aliases	AMD1, AMDM, ANPRB, ANPb, ECDM, GC-B, GCB, GUC2B, GUCY2B, NPRB, NPRBi, SNSK
Disease Acronyms (UniProt) Disease acronyms from UniProt database	AMD1, ECDM
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9p13.3
Summary Summary of gene provided in NCBI Entrez 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 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

Show/Hide all(36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001503	Process	Ossification	IEA
GO:0001653	Function	Peptide receptor activity	IBA	21873635
GO:0004383	Function	Guanylate cyclase activity	IBA	21873635
GO:0004383	Function	Guanylate cyclase activity	IDA	1672777
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:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	24001744, 24471569
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IDA	26980729
GO:0006182	Process	CGMP biosynthetic process	IBA	21873635
GO:0006182	Process	CGMP biosynthetic process	IDA	1672777
GO:0006468	Process	Protein phosphorylation	IEA
GO:0007165	Process	Signal transduction	IBA	21873635
GO:0007168	Process	Receptor guanylyl cyclase signaling pathway	IBA	21873635
GO:0007168	Process	Receptor guanylyl cyclase signaling pathway	IDA	1672777
GO:0007168	Process	Receptor guanylyl cyclase signaling pathway	IMP	26980729
GO:0008217	Process	Regulation of blood pressure	TAS	10082481
GO:0010753	Process	Positive regulation of cGMP-mediated signaling	IEA
GO:0016941	Function	Natriuretic peptide receptor activity	IBA	21873635
GO:0016941	Function	Natriuretic peptide receptor activity	IDA	1660465, 1672777
GO:0016941	Function	Natriuretic peptide receptor activity	IMP	26980729
GO:0017046	Function	Peptide hormone binding	IBA	21873635
GO:0017046	Function	Peptide hormone binding	IPI	1660465, 26980729
GO:0019934	Process	CGMP-mediated signaling	IEA
GO:0022414	Process	Reproductive process	IEA
GO:0042562	Function	Hormone binding	IPI	1672777
GO:0042802	Function	Identical protein binding	IEA
GO:0051447	Process	Negative regulation of meiotic cell cycle	IEA
GO:0060348	Process	Bone development	IEA
GO:0097011	Process	Cellular response to granulocyte macrophage colony-stimulating factor stimulus	IEP	14687666
GO:1900194	Process	Negative regulation of oocyte maturation	IEA
GO:1903779	Process	Regulation of cardiac conduction	TAS

MIM	HGNC	e!Ensembl
108961	7944	ENSG00000159899

Protein

UniProt ID

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

Show/Hide Causal Diseases (8)

Disease term	Disease name	dbSNP ID	References
Causal
Acromesomelic dysplasia	ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, Acromesomelic dysplasia, Maroteaux type	rs863223287, rs28936683, rs121909350, rs121909351, rs28931582, rs28929479, rs121912739, rs879255257, rs863225041, rs863225042, rs745854387, rs1057519324, rs1057519335, rs1057519334, rs1057519333 View all (12 more)	22691581, 15146390, 17652215, 23065701, 26980729
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852 View all (22 more)
Craniosynostosis	Craniosynostosis	rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350
Epilepsy	EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670 View all (165 more)
Epiphyseal dysplasia	Epiphyseal dysplasia	rs137852652, rs28936668, rs1600786629, rs1600786748, rs606231367, rs1569763139, rs1569763108, rs1085307973, rs1555821817
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Short stature with nonspecific skeletal abnormalities	SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES	rs879255257, rs796065355, rs1057519324, rs1311857509	24001744, 24471569
Tall stature, scoliosis, macrodactyly of great toe syndrome	Tall stature-scoliosis-macrodactyly of the great toes syndrome	rs587777595, rs587777596, rs587777597

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Source
Unknown
Short Stature With Nonspecific Skeletal Abnormalities	short stature with nonspecific skeletal abnormalities 1	GenCC
Restless Legs Syndrome	Restless Legs Syndrome	GWAS
Diabetes	Diabetes	GWAS

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References
Associations from Text Mining
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)