1. Gene
  2. BMPR2 - bone morphogenetic protein receptor type 2 Gene

BMPR2 - bone morphogenetic protein receptor type 2 Gene

中文名称:骨形态发生蛋白受体 2 型

种属: Homo sapiens

同用名: BMR2; PPH1; BMPR3; BRK-3; POVD1; T-ALK; BMPR-II

基因 ID: 659 | 基因类型: protein coding

关于 BMPR2

Cytogenetic location: 2q33.1-q33.2 Genomic coordinates (GRCh38): 2:202,376,327-202,567,749 (from NCBI)

This gene has 3 transcripts (splice variants), 265 orthologues, 11 paralogues and is associated with 5 phenotypes. Ubiquitous expression in lung (RPKM 16.2), brain (RPKM 15.1) and 24 other tissues.

功能概要

该基因编码跨膜丝氨酸/苏氨酸激酶的骨形态发生蛋白 (BMP) 受体家族的成员。该受体的配体是 TGF-β 超家族的成员。 BMP 参与软骨内骨形成和胚胎发生。这些蛋白质通过形成两种不同类型的丝氨酸 (苏氨酸) 激酶受体的异聚复合物来转导它们的信号:大约 50-55 kD 的 I 型受体和大约 70-80 kD 的 II 型受体。该基因的突变与家族性和芬氟拉明相关的原发性肺动脉高压以及肺静脉闭塞性疾病有关。[RefSeq 提供,2020 年 5 月]

This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are members of the TGF-beta Superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, May 2020]

BMPR2 基因产物(3)

mRNA Protein Name
XM_011511687.2 XP_011509989.1 bone morphogenetic protein receptor type-2 isoform X1
NM_001204.7 NP_001195.2 bone morphogenetic protein receptor type-2 precursor
NM_033346.2

BMPR2 蛋白结构

Activin_recp

Activin_recp: Activin types I and II receptor domain (58 - 129)

Pkinase

Pkinase: Protein kinase domain (204 - 497)

  • 0
  • 200
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  • 1038 a.a.
蛋白主名 其他名称

bone morphogenetic protein receptor type-2

BMP type II receptor

BMP type-2 receptor

bone morphogenetic protein receptor type II

bone morphogenetic protein receptor, type II (serine/threonine kinase)

type II activin receptor-like kinase

type II receptor for bone morphogenetic protein-4

重组 BMPR2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7669 BMPR-II Protein, Human (HEK293, His) Q13873 (S27-I151) ≥95%
HY-P72855 BMPR-II Protein, Human (HEK293, His-Fc) Q13873 (S27-I151) ≥95%

关联疾病

疾病名称 别名
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome

Juvenile Polyposis-Hereditary Hemorrhagic Telangiectasia Syndrome

JPHT

Jp/Hht Syndrome

Juvenile Polyposis With Hereditary Hemorrhagic Telangiectasia

Jps/Hht

Telangiectasia, Hereditary Hemorrhagic, With Juvenile Polyposis Coli

Polyposis, Generalized Juvenile, With Pulmonary Arteriovenous Malformation

Jp-Hht

JP/HHT

Polyposis, Juvenile/Hereditary Hemorrhagic Telangiectasia Syndrome

Submucous Uterine Fibroid

Submucous Leiomyoma Of Uterus

Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Congenital Anomaly Of Heart

Heart Defect

Heart Malformation

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Colon Adenocarcinoma

Adenocarcinoma Of Colon

Adenocarcinoma Of The Colon

Colonic Adenocarcinoma

Atrial Heart Septal Defect

Atrial Septal Defect

Atrial Septal Defects

Atrioseptal Defect

Auricular Septal Defect

Congenital Atrial Septal Defect

Interatrial Septal Defect

Interauricular Septal Defect

Heart Septal Defects, Atrial

Septal Defect, Atrial

Pulmonary Venoocclusive Disease

Pulmonary Veno-Occlusive Disease

Obstructive Disease Of The Pulmonary Veins

Pvod

Isolated Pulmonary Venous Sclerosis

Venous Form Of Primary Pulmonary Hypertension

Pulmonary Venoocclusive Disease 1, Autosomal Dominant

Hepatic Vascular Disease

Vascular Disorder Of Liver

Arteriovenous Malformation

Arteriovenous Malformations

Arteriovenous Hemangioma

Cirsoid Aneurysm

Racemose Aneurysm

Racemose Angioma

Racemose Hemangioma

Congenital Arteriovenous Malformation

Mixed Connective Tissue Disease

Sharp Syndrome

Mctd

Connective Tissue Disease Overlap Syndrome

Mixed Collagen Vascular Disease

Mctd - [Mixed Connective Tissue Disease]

Pulmonary Hypertension

Primary Pulmonary Hypertension

Hypertension Pulmonary

Hypertension, Pulmonary

Idiopathic Pulmonary Hypertension

Idiopathic Pulmonary Arterial Hypertension

Pulmonary Htn - [Hypertension]

Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension

Small Patella Syndrome

Ischiopatellar Dysplasia

Coxopodopatellar Syndrome

Scott-Taor Syndrome

Sps

Ischiocoxopodopatellar Syndrome

Patella Aplasia, Coxa Vara, And Tarsal Synostosis

ICPPS

Congenital Coxa Vara, Patella Aplasia And Tarsal Synostosis

Coxo-Podo-Patellar Syndrome

Patella Aplasia, Coxa Vara, Tarsal Synostosis

Coxopodipatellar Syndrome

Pulmonary Valve Insufficiency

Pulmonary Regurgitation

Pulmonary Incompetence

Pulmonary Incompetence, Non-Rheumatic

Pulmonary Insufficiency Following Trauma And Surgery

Pulmonary Regurg.

Pulmonic Insufficiency

Pulmonic Valve Regurgitation

Pulmonary Valve Incompetence

Pulmonary Valve Incompetency

Pulmonary Valvular Insufficiency

Pulmonary Valvular Regurgitation

Pulmonary Valvular Incompetency

Pulmonary Valve Incompetence Nos

Annular Incompetency Pulmonary Valve

Incompetent Pulmonary Valve

Graham Steell Murmur

Pulmonary Valvular Incompetence

Interstitial Lung Disease 2

Idiopathic Pulmonary Fibrosis

Ipf

Fibrocystic Pulmonary Dysplasia

Pulmonary Fibrosis, Idiopathic

Pulmonary Fibrosis, Idiopathic, Susceptibility To

ILD2

Idiopathic Pulmonary Fibrosis, Familial

Fibrosing Alveolitis, Cryptogenic

Uip

Cryptogenic Fibrosing Alveolitis

Fibrosing Alveolitis

Interstitial Pneumonitis, Usual

Familial Idiopathic Pulmonary Fibrosis

Idiopathic Fibrosing Alveolitis, Chronic Form

Usual Interstitial Pneumonia

Fibrosing Alveolitis Cryptogenic

Hamman-Rich Disease

Idiopathic Pulmonary Fibrosis Familial

Interstitial Pneumonitis Usual

Fibrosis Idiopathic Pulmonary

Fibrosis, Pulmonary, Idiopathic

Hamman-Rich Syndrome

Chronic Idiopathic Pulmonary Fibrosis

Acute Interstitial Pneumonia

Interstitial Pulmonary Fibrosis

Ipf - [Idiopathic Pulmonary Fibrosis]

Idiopathic Lung Fibrosis

Fibrosing Lung Disease

Pulmonary Fibrosis Nos

Fibrosing Pneumonitis

Drug- Or Toxin-Induced Pulmonary Arterial Hypertension

Drug- Or Toxin-Induced Pah

Patent Foramen Ovale

Atrial Septal Defect Within Oval Fossa

Foramen Ovale Patent

Ostium Secundum Atrial Septal Defect

Atrial Septal Defect, Ostium Secundum Type

Foramen Ovale, Patent

Defect, Patent Or Persistent, Ostium Secundum

Ostium Secundum Type Atrial Septal Defect

Persistent Ostium Secundum

Asd Ostium Secundum Type

Ostium Secundum Asd

Osasd

Asd, Ostium Secundum Type

Pfo - [Patent Foramen Ovale]

Open Foramen Ovale

Open Oval Foramen

Persistent Foramen Ovale

Secundum Atrial Septal Defect

Hepatopulmonary Syndrome
Pulmonary Venoocclusive Disease 1, Autosomal Dominant

Pulmonary Venoocclusive Disease 1

PVOD1

Pvod

Pulmonary Veno-Occlusive Disease

Pulmonary Veno-Occlusive Disease, Type 1

Tricuspid Valve Disease

Rheumatic Tricuspid Valve Disease

Disease Of Tricuspid Valve

Rh. Tricuspid Valve Disease

Rheumatic Disease Of Tricuspid Valve

Tricuspid Disease

Tricuspid Valve Disorder

Breast Cancer

Breast Carcinoma

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Male Breast Cancer

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Brachydactyly, Type A2

Brachydactyly Type A2

BDA2

Mohr-Wriedt Type Brachydactyly

Brachymesophalangy Ii

Brachymesophalangy Type 2

Brachymesophalangy 2

Brachydactyly, Mohr-Wriedt Type

Brachydactyly A2

Tricuspid Valve Insufficiency

Tricuspid Regurgitation

Tricuspid Valve Regurgitation

Tricuspid Incompetence

Tr - [Tricuspid Regurgitation]

Tricuspid Valve Incompetency

Tricuspid Valve Annular Incompetency

Genetic Non-Acquired Premature Ovarian Failure
Fibrodysplasia Ossificans Progressiva

Myositis Ossificans Progressiva

Progressive Myositis Ossificans

FOP

Progressive Ossifying Myositis

Myositis Ossificans

Stone Man Syndrome

Man Of Stone

Myositis Ossificans Progressive

Diffuse Progressive Ossifying Polymyositis

Fibrodysplasia Ossificans Congenita

Myositis Ossificans Progressiva, Site Unspecified

Münchmeyer Disease

Fop - [Fibrodysplasia Ossificans Progressiva]

Progressive Myositis Ossificans Calcification

Portal Hypertension

Hypertension, Portal

Hypertension Portal

Pht - [Portal Hypertension]

Portal Htn

Pulmonary Arterial Hypertension Associated With Congenital Heart Disease

Pah Associated With Congenital Heart Disease

Glycogen Storage Disease

Glycogenosis

Glycogenoses

Gsd

Storage Disease, Glycogen

Gsd - [Glycogen Storage Disease]

Glycogen Thesaurismosis

Diffuse Glycogenosis

Generalised Glycogen Storage Disease

Generalised Glycogenosis

Generalised Glycogen Storage Disease Of Infants

Glycogen Synthase Deficiency

Connective Tissue Disease

Connective Tissue Diseases

Connective Tissue Disorder

Abnormality Of Connective Tissue

Disorder Of Connective Tissue

Connective Tissue Disorders

Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia

Diaphragmatic Hernia

Hernia, Congenital Diaphragmatic 1

Cdh

Congenital Diaphragmatic Defect

Hernia, Diaphragmatic

Dih

Hernia, Congenital Diaphragmatic

Hcd

Diaphragmatic Defect, Congenital

Diaphragm, Unilateral Agenesis Of

Hemidiaphragm, Agenesis Of

Agenesis Of Hemidiaphragm

Unilateral Agenesis Of Diaphragm

Hernia Diaphragmatic

Hernia Diaphragmatic Congenital

Hiatus Hernia

Oesophageal Hiatus Hernia

Paraoesophageal Hernia

Sliding Hiatus Hernia

Congenital Diaphragm Hernia

Congenital Diaphragm Defect With Hernia

Gross Congenital Diaphragm Defect

Patent Ductus Arteriosus 1

Patent Ductus Arteriosus

PDA1

Pda

Ductus Arteriosus, Patent

Patent Ductus Arteriosus, Susceptibility To

Patent Ductus Botalli

Patency Of The Ductus Arteriosus

Patent Ductus Arteriosus Familial

Ductus Arteriosus Patent

Patent Ductus Arteriosus - Persisting Type

Fragile X Syndrome

FXS

Martin-Bell Syndrome

Fraxa Syndrome

Marker X Syndrome

X-Linked Mental Retardation And Macroorchidism

Fragile X Mental Retardation Syndrome

Fra Syndrome

Mental Retardation, X-Linked, Associated With Marxq28

Frax Syndrome

Symptomatic Form Of Fragile X Syndrome In Female Carriers

Fragile-X Syndrome

Fraxe Syndrome

Vascular Disease

Vascular Diseases

Aneurysm

Spinal Cord Ischemia

Spinal Cord Vascular Diseases

Vascular Tissue Disease

Vascular Anomaly

Juvenile Polyposis Syndrome

JPS

Juvenile Intestinal Polyposis

Jip

Pji

Juvenile Gastrointestinal Polyposis

Juvenile Polyposis

Polyposis, Juvenile Intestinal

Polyposis, Familial, Of Entire Gastrointestinal Tract

Polyposis Familial Of Entire Gastrointestinal Tract

Polyposis Juvenile Intestinal

Polyposis Syndrome, Juvenile

Multiple Synostoses Syndrome

Symphalangism-Brachydactyly Syndrome

Deafness-Hermann Type Symphalangism Syndrome

Facio-Audio-Symphalangism

Hearing Loss-Hermann Type Symphalangism Syndrome

Wl Syndrome

Multiple Synostosis Syndrome

Aortic Valve Prolapse
Idiopathic/Heritable Pulmonary Arterial Hypertension

Idiopathic And/Or Familial Pulmonary Arterial Hypertension

Hereditary Hemorrhagic Telangiectasia

Rendu-Osler-Weber Disease

Hht

Osler-Weber-Rendu Disease

Telangiectasia, Hereditary Hemorrhagic

Osler Hemorrhagic Telangiectasia Syndrome

Orw Disease

Osler Weber Rendu Syndrome

Osler-Rendu-Weber Disease

Osler-Weber-Rendu Syndrome

Rendu-Osler Disease

Telangiectasia Hereditary Hemorrhagic

Telangiectasia Hemorrhagic, Hereditary

Hht - [Hereditary Haemorrhagic Telangiectasia]

Osler Haemorrhagic Telangiectasia 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

Heritable Pulmonary Arterial Hypertension

Fpah

Familial Pulmonary Arterial Hypertension

Hpah

Hereditary Pulmonary Arterial Hypertension

Familial Primary Pulmonary Hypertension

Pulmonary Hypertension, Primary, 1

Pulmonary Arterial Hypertension

Pah

Idiopathic Pulmonary Arterial Hypertension

Idiopathic Pulmonary Hypertension

Primary Pulmonary Hypertension

PPH1

Pulmonary Hypertension, Familial Primary, 1, With Or Without Hht

Pulmonary Hypertension, Primary, Fenfluramine Or Dexfenfluramine-Associated

Pph

Familial Primary Pulmonary Hypertension

Sporadic Primary Pulmonary Hypertension

Pht

Fpah

Familial Pulmonary Arterial Hypertension

Hereditary Pulmonary Arterial Hypertension

Heritable Pulmonary Arterial Hypertension

Ayerza Syndrome

Fpph

Ppht

Ipah

Primary Pulmonary Arterial Hypertension

Pulmonary Hypertension, Familial Primary

Hypertension, Pulmonary, Primary, Type 1

Ayerza'S Syndrome

Pah - [Pulmonary Arterial Hypertension]

Arrillaga Ayerza Syndrome

Telangiectasis

Telangiectasia

Chronic Pulmonary Heart Disease
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
Macaca mulatta BMPR2 VGNC VGNC:70268
Rattus norvegicus BMPR2 RGD RGD:71082
Bos taurus BMPR2 VGNC VGNC:26526
Canis familiaris BMPR2 VGNC VGNC:38486
Mus musculus BMPR2 MGD MGI:1095407
Felis catus BMPR2 VGNC VGNC:60139
Others BMPR2 NCBI