NPR2 - natriuretic peptide receptor 2 Gene

Also Known as GCB; AMD1; AMDM; ANPb; ECDM; GC-B; NPRB; SNSK; ANPRB; GUC2B; NPRBi; GUCY2B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4882

About NPR2

Cytogenetic location: 9p13.3 Genomic coordinates (GRCh38): 9:35,791,591-35,809,731 (from NCBI)

This gene has 27 transcripts (splice variants), 260 orthologues, 17 paralogues and is associated with 6 phenotypes. Ubiquitous expression in endometrium (RPKM 8.6), fat (RPKM 6.1) and 25 other tissues.

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 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]

NPR2 Products (2)

mRNA	Protein	Name
NM_001378923.1	NP_001365852.1	atrial natriuretic peptide receptor 2 isoform 2 precursor
NM_003995.4	NP_003986.2	atrial natriuretic peptide receptor 2 isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables guanylate cyclase activity	IDA IDA: Inferred from direct assay	1672777	GOA
enables guanylate cyclase activity	IMP IMP: Inferred from mutant phenotype	26980729	GOA
enables hormone binding	IPI IPI: Inferred from physical interaction	1672777	GOA
enables natriuretic peptide receptor activity	IDA IDA: Inferred from direct assay	1660465	GOA
enables natriuretic peptide receptor activity	IMP IMP: Inferred from mutant phenotype	26980729	GOA
enables peptide hormone binding	IPI IPI: Inferred from physical interaction	1660465	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16870210	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of cGMP biosynthetic process	IDA IDA: Inferred from direct assay	1672777	GOA
involved in cellular response to granulocyte macrophage colony-stimulating factor stimulus	IEP IEP: Inferred from expression pattern	14687666	GOA
involved in receptor guanylyl cyclase signaling pathway	IDA IDA: Inferred from direct assay	1672777	GOA
involved in receptor guanylyl cyclase signaling pathway	IMP IMP: Inferred from mutant phenotype	26980729	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	24001744	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NPR2 Protein Structure

ANF_receptor

Pkinase_Tyr

Guanylate_cyc

0
200
400
600
800
1000
1047 a.a.

Protein Preferred Names	Protein Names
atrial natriuretic peptide receptor 2	atrial natriuretic peptide B-type receptor

Recombinant NPR2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72303	NPR2 Protein, Human (P. pastoris, His)	P20594-1 (R23-I458)	≥ 90%, as determined by reducing SDS-PAGE.

NPR2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811186	NPR2 Antibody	WB, ICC/IF	Human, Mouse, Rat
HY-P83168	ANPR B Antibody (YA2913)	WB	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Acromesomelic Dysplasia 1	Acromesomelic Dysplasia, Maroteaux Type Amdm Acromesomelic Dysplasia 1, Maroteaux Type AMD1 St. Helena Dysplasia Acromesomelic Dysplasia-1 Acromesomelic Dysplasia Maroteaux Type Acromesomelic Dwarfism Maroteux Type Dysplasia, Acromesomelic, Type 1, Maroteaux Acromesomelic Dysplasia Hunter-Thompson Type
Epiphyseal Chondrodysplasia, Miura Type	ECDM Tall Stature-Scoliosis-Macrodactyly Of The Great Toes Syndrome Miura Type Epiphyseal Chondrodysplasia Tall Stature-Scoliosis-Macrodactyly Of The Halluces Syndrome Tall Stature-Long Halluces-Multiple Extra-Epiphyses Syndrome Chondrodysplasia, Epiphyseal, Miura Type
Short Stature With Nonspecific Skeletal Abnormalities	SNSK Short Stature With Non-Specific Skeletal Abnormalities Stature, Short, With Nonspecific Skeletal Abnormalities
Acromesomelic Dysplasia	Acromesomelic Dwarfism Dysplasia, Acromesomelic Acromesomelic Dysplasia Hunter-Thompson Type
Epilepsy, Familial Focal, With Variable Foci 2	FFEVF2
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis
Overgrowth Syndrome	Overgrowth Congenital Malformation Syndromes Involving Early Overgrowth
Macrodactyly	Macrodactyly, Somatic Congenital Macrodactylia Megalodactyly MADAC Type I Macrodactyly
Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome	Catshl Syndrome Camptodactyly-Tall Stature-Scoliosis-Deafness Syndrome
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Asphyxiating Thoracic Dystrophy 5 SRTD5 Atd5 Jatd Jeune Asphyxiating Thoracic Dystrophy Jeune Syndrome 5
Paraphimosis
Spondyloepiphyseal Dysplasia, Kimberley Type	SEDK Spondyloepiphyseal Dysplasia Kimberley Type Spondyloepiphyseal Dysplasia Type Kimberley Dysplasia, Spondyloepiphyseal, Kimberley Type
Isolated Growth Hormone Deficiency, Type Ia	Ighd Ia Primordial Dwarfism Isolated Growth Hormone Deficiency Type Ia Sexual Ateleiotic Dwarfism Pituitary Dwarfism I IGHD1A Illig-Type Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, Type Ia Congenital Ighd Type Ia Congenital Isolated Gh Deficiency Type Ia Congenital Isolated Growth Hormone Deficiency Type Ia Pituitary Dwarfism 1 Growth Hormone Deficiency, Isolated, Autosomal Recessive Autosomal Recessive Isolated Growth Hormone Deficiency Isolated Growth Hormone Deficiency Type 1a Congenital Ighd Congenital Isolated Gh Deficiency Congenital Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated Autosomal Recessive Illig Type Growth Hormone Deficiency Non-Acquired Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, 1a Growth Hormone Deficiency Isolated Autosomal Recessive Dwarfism, Primordial Dwarfism
Acromesomelic Dysplasia 2c	Acromesomelic Dysplasia, Hunter-Thompson Type Acromesomelic Dysplasia 2c, Hunter-Thompson Type AMD2C Acromesomelic Dwarfism Amdh Acromesomelic Dwarfism Acromesomelic Dysplasia-2c Acromesomelic Dysplasia Hunter Thompson Type Acromesomelic Chondrodysplasia, Hunter-Thompson Type Amdh Dysplasia, Acromesomelic, Type 2c, Hunter-Thompson Acromesomelic Dysplasia Hunter-Thompson Type
Acrocapitofemoral Dysplasia	ACFD Dysplasia, Acrocapitofemoral
Hypochondroplasia	HCH Hypochondrodysplasia Chondrogenesis Imperfecta Hypochondroplastic Dwarfism Hypochondroplastic Short Stature
Brachydactyly
Acromesomelic Dysplasia 2b	Fibular Hypoplasia And Complex Brachydactyly Du Pan Syndrome AMD2B Dupans Acromesomelic Dysplasia-2b Fibular Aplasia-Complex Brachydactyly Syndrome
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
Leri-Weill Dyschondrosteosis	LWD Dyschondrosteosis Dco Léri-Weill Dyschondrosteosis Leri Weill Dyschondrosteosis Leri-Weill Syndrome Leri-Weil Syndrome Dyschondrosteosis, Leri-Weill
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	SADDAN Saddan Dysplasia Severe Achondroplasia With Developmental Delay And Acanthosis Nigricans Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome Ssb Syndrome Skeleton Skin Brain Syndrome Skeleton-Skin-Brain Syndrome Achondroplasia
Thanatophoric Dysplasia, Type I	Thanatophoric Dysplasia Thanatophoric Dwarfism Thanatophoric Dysplasia Type 1 TD1 Td Thanatophoric Short Stature Thanatophoric Dwarfism Type 1 Thanatophoric Dysplasia Type I Platyspondylic Lethal Skeletal Dysplasia, San Diego Type Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type Skeletal Dysplasia, San Diego Type Plsd San Diego Type Thanatophoric Dwarfism 1 Dwarfism Thanatophoric Dwarf, Thanatophoric Thanatophoric Dysplasia 1 Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type Platyspondylic Lethal Skeletal Dysplasia San Diego Type Thanatophoric Dwarf Thanatophoric Dwarfism Or Short Stature Thanatophoric Dwarfism Syndrome Td - [Thanatophoric Dwarfism]
Acromesomelic Dysplasia 2a	Chondrodysplasia, Grebe Type Acromesomelic Dysplasia, Grebe Type Grebe Chondrodysplasia Amdg Grebe Syndrome AMD2A Grebe Dysplasia Achondrogenesis, Brazilian Achondrogenesis, Type Ii, Formerly Acromesomelic Dysplasia-2a Achondrogenesis Type Ii Brazilian Achondrogenesis Acromesomelic Chondrodysplasia, Grebe Type
Myocardial Infarction	Heart Attack Myocardial Infarction, Susceptibility To Myocardial Infarction 1 Myocardial Infarction, Protection Against Myocardial Infarction, Decreased Susceptibility To Myocardial Infarction, Decreased Myocardial Infarct MCI1 Premature Myocardial Infarction Myocardial Infarction, Susceptibility To, Type 1
Scoliosis
Bone Development Disease
Brachydactyly, Type A1	Brachydactyly Type A1 BDA1 Farabee-Type Brachydactyly Farabee Type Brachydactyly Brachydactyly Farabee Type Brachydactyly, Farabee Type Brachydactyly A1 Brachydactyly
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Crouzon Syndrome	Crouzon Craniofacial Dysostosis Craniofacial Dysostosis Cfd1 Craniofacial Dysostosis Type 1 Crouzon Disease Crouzon'S Disease Craniofacial Dysostosis, Type I Craniofacial Dysarthrosis Craniofacial Dysostosis Syndrome CS Craniofacial Dysostosis Type I Vogt Cephalosyndactyly
Aortic Valve Disease 1	Aortic Valve Disease Bicuspid Aortic Valve Aortic Valve Disorder AOVD1 Bav Bicuspid Aortic Valve Disease Familial Bicuspid Aortic Valve Aortic Valve Calcification Aovd Aortic Valve, Bicuspid Aortic Valve, Calcification Of Aortic Stenosis, Calcific Familial Bav Calcific Aortic Stenosis Calcification Of Aortic Valve Abnormality Of The Aortic Valve Aortic Valve Disease, Type 1 Aortic Valve Disease 2 Bicommissural Aortic Valve
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P3503A	Vosoritide acetate	Inhibitor	99.96%	Unkown

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09498	NPR2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS09500	NPRL2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21394	Npr2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27913	Npr2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	NPR2	VGNC	VGNC:106847
Mus musculus	NPR2	MGD	MGI:97372
Felis catus	NPR2	VGNC	VGNC:68534
Canis familiaris	NPR2	VGNC	VGNC:43929
Rattus norvegicus	NPR2	RGD	RGD:620851
Macaca mulatta	NPR2	VGNC	VGNC:75389
Others	NPR2	NCBI