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  2. NPR2 - natriuretic peptide receptor 2 Gene

NPR2 - natriuretic peptide receptor 2 Gene

中文名称:利钠肽受体 2

种属: Homo sapiens

同用名: GCB; AMD1; AMDM; ANPb; ECDM; GC-B; NPRB; SNSK; ANPRB; GUC2B; NPRBi; GUCY2B

基因 ID: 4882 | 基因类型: protein coding

关于 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.

功能概要

该基因编码利钠肽受体 B,利钠肽的两个完整膜受体之一。 NPR1 和 NPR2 均包含五个功能域:细胞外配体结合域、单个跨膜区域和细胞内蛋白激酶同源域、参与寡聚化的螺旋铰链区和羧基末端鸟苷酸环化酶催化域。该蛋白质是 C 型钠尿肽 (CNP) 的主要受体,其在配体结合后表现出大大增加的鸟苷酸环化酶活性。该基因的突变是 Maroteaux 型肢端发育不良的原因。[RefSeq 提供,2008 年 7 月]

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 基因产物(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

NPR2 蛋白结构

ANF_receptor

ANF_receptor: Receptor family ligand binding region (46 - 397)

Pkinase_Tyr

Pkinase_Tyr: Protein tyrosine kinase (540 - 783)

Guanylate_cyc

Guanylate_cyc: Adenylate and Guanylate cyclase catalytic domain (852 - 1037)

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  • 1047 a.a.
蛋白主名 其他名称

atrial natriuretic peptide receptor 2

atrial natriuretic peptide B-type receptor

重组 NPR2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72303 Atrial natriuretic peptide receptor 2/NPR2, Human (His) P20594 (R23-I458) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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