BMPR1B - bone morphogenetic protein receptor type 1B Gene

Also Known as ALK6; AMD3; AMDD; BDA2; ALK-6; BDA1D; CDw293

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 658

About BMPR1B

Cytogenetic location: 4q22.3 Genomic coordinates (GRCh38): 4:94,757,955-95,158,450 (from NCBI)

This gene has 9 transcripts (splice variants), 290 orthologues, 11 paralogues and is associated with 9 phenotypes. Biased expression in prostate (RPKM 14.5), brain (RPKM 5.7) and 7 other tissues.

Summary

This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which 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 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

BMPR1B Products (12)

mRNA	Protein	Name
XM_011532201.3	XP_011530503.1	bone morphogenetic protein receptor type-1B isoform X1
XM_017008560.2	XP_016864049.1	bone morphogenetic protein receptor type-1B isoform X1
NM_001203.3	NP_001194.1	bone morphogenetic protein receptor type-1B isoform b precursor
XM_047416091.1	XP_047272047.1	bone morphogenetic protein receptor type-1B isoform X1
XM_047416093.1	XP_047272049.1	bone morphogenetic protein receptor type-1B isoform X1
NM_001256793.2	NP_001243722.1	bone morphogenetic protein receptor type-1B isoform a precursor
NM_001256792.2	NP_001243721.1	bone morphogenetic protein receptor type-1B isoform b precursor
XM_047416094.1	XP_047272050.1	bone morphogenetic protein receptor type-1B isoform X1
XM_047416095.1	XP_047272051.1	bone morphogenetic protein receptor type-1B isoform X1
NM_001256794.1	NP_001243723.1	bone morphogenetic protein receptor type-1B isoform b precursor
XM_017008558.2	XP_016864047.1	bone morphogenetic protein receptor type-1B isoform X1
XM_017008559.2	XP_016864048.1	bone morphogenetic protein receptor type-1B isoform X1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables ATP binding	IDA IDA: Inferred from direct assay	12065756	GOA
enables BMP binding	IPI IPI: Inferred from physical interaction	18184661	GOA
enables BMP receptor activity	IDA IDA: Inferred from direct assay	12065756	GOA
enables SMAD binding	IDA IDA: Inferred from direct assay	12065756	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10854429	GOA
enables protein serine/threonine kinase activity	IDA IDA: Inferred from direct assay	12065756	GOA
enables transmembrane signaling receptor activity	IDA IDA: Inferred from direct assay	18184661	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in BMP signaling pathway	IDA IDA: Inferred from direct assay	12065756	GOA
involved in cellular response to BMP stimulus	IMP IMP: Inferred from mutant phenotype	18326817	GOA
involved in osteoblast differentiation	IMP IMP: Inferred from mutant phenotype	28214897	GOA
involved in positive regulation of bone mineralization	IMP IMP: Inferred from mutant phenotype	18436533	GOA
acts upstream of positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	28214897	GOA
involved in positive regulation of osteoblast differentiation	IMP IMP: Inferred from mutant phenotype	18436533	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	18326817	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

BMPR1B Protein Structure

Activin_recp

TGF_beta_GS

Pkinase

0
100
200
300
400
502 a.a.

Protein Preferred Names	Protein Names
bone morphogenetic protein receptor type-1B	BMP type-1B receptor BMPR-1B activin receptor-like kinase 6 bone morphogenetic protein receptor, type IB serine/threonine receptor kinase

BMPR1B Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	BMPR1B	O00238	BMP2	Homo sapiens	P12643	SPR	19229295
Intra	BMPR1B	O00238	GDF5	Homo sapiens	P43026	SPR	16127465
Intra	BMPR1B	O00238	GDF5	Homo sapiens	P43026	SPR	19229295

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant BMPR1B Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76174	BMPRIB/ALK-6 Protein, Human (sf9, His-GST)	O00238 (R149-L502)	≥ 90%, as determined by reducing SDS-PAGE.
HY-P76175	BMPRIB/ALK-6 Protein, Human (HEK293, Fc)	O00238 (K14-R126)	≥ 90%, as determined by reducing SDS-PAGE.

BMPR1B Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811243	BMPR1B Antibody	WB, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Persistent Mullerian Duct Syndrome	Persistent Müllerian Duct Syndrome Pmds Persistent Oviduct Syndrome Persistent Muellerian Duct Syndrome Female Genital Ducts In Otherwise Normal Male Hernia Uteri Inguinale Persistent Mullerian Duct Syndrome, Types 1 And 2 Persistent Mullerian Derivatives
Chronic Tympanitis
Brachydactyly, Type A2	Brachydactyly Type A2 BDA2 Mohr-Wriedt Type Brachydactyly Brachymesophalangy Ii Brachymesophalangy Type 2 Brachymesophalangy 2 Brachydactyly, Mohr-Wriedt Type Brachydactyly A2
Brachydactyly, Type B2	Brachydactyly Type B2 BDB2 Brachydactyly B2
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
Brachydactyly, Type C	Brachydactyly Type C BDC Brachydactyly Haws Type Brachydactyly, Haws Type Brachydactyly C
Orofacial Cleft 11	OFC11 Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 11 Nonsyndromic Cleft Lip With Or Without Cleft Palate 11 Non-Syndromic Orofacial Cleft 11 Chcl Cleft Lip Congenital Healed Congenital Healed Cleft Lip Non-Syndromic Cleft Lip/Palate 11 Non-Syndromic Cleft Lip With Or Without Cleft Palate 11 Orofacial Cleft, Type 11 Cleft Lip, Congenital Healed
Klippel-Feil Syndrome 1
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
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
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
Acromesomelic Dysplasia 3	AMD3 Acromesomelic Dysplasia, Demirhan Type Amdd Chondrodysplasia, Acromesomelic, With Or Without Genital Anomalies Acromesomelic Chondrodysplasia, With Genital Anomalies
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
Brachydactyly, Type A1, D	Brachydactyly Type A1d BDA1D Brachydactyly A1, D
Heritable Pulmonary Arterial Hypertension	Fpah Familial Pulmonary Arterial Hypertension Hpah Hereditary Pulmonary Arterial Hypertension Familial Primary Pulmonary Hypertension
Acromesomelic Dysplasia 2c	Acromesomelic Dysplasia, Hunter-Thompson Type Acromesomelic Dysplasia 2c, Hunter-Thompson Type AMD2C Acromesomelic Dwarfism Amdh Acromesomelic Dwarfism Acromesomelic Dysplasia Hunter Thompson Type Acromesomelic Chondrodysplasia, Hunter-Thompson Type Amdh Dysplasia, Acromesomelic, Type 2c, Hunter-Thompson Acromesomelic Dysplasia Hunter-Thompson Type
Chronic Pulmonary Heart Disease
Brachydactyly
Leber Congenital Amaurosis 17	LCA17 Leber Congenital Amaurosis, Type 17
Chondrodysplasia Acromesomelic With Genital Anomalies
Synostoses, Tarsal, Carpal, And Digital	Calcaneonavicular Coalition Multiple Synostosis Syndrome Synostoses, Tarsal, Carpal And Digital
Acromesomelic Dysplasia	Acromesomelic Dwarfism Dysplasia, Acromesomelic Acromesomelic Dysplasia Hunter-Thompson Type
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 A1	Brachydactyly Type A1 BDA1 Farabee-Type Brachydactyly Farabee Type Brachydactyly Brachydactyly Farabee Type Brachydactyly, Farabee Type Brachydactyly A1 Brachydactyly
Acromesomelic Dysplasia 2a	Chondrodysplasia, Grebe Type Acromesomelic Dysplasia, Grebe Type Grebe Chondrodysplasia Amdg Grebe Syndrome AMD2A Grebe Dysplasia Achondrogenesis, Brazilian Achondrogenesis, Type Ii, Formerly Achondrogenesis Type Ii Brazilian Achondrogenesis Acromesomelic Chondrodysplasia, Grebe Type
Sugarman Brachydactyly	Brachydactyly With Major Proximal Phalangeal Shortening Brachydactyly Of The Hands And Feet With Duplication Of The First Toes Sugarman-Hager-Kulik Syndrome Orofaciodigital Syndrome 3
Parietal Foramina	Enlarged Parietal Foramina Hereditary Cranium Bifidum Symmetric Parietal Foramina Catlin Marks Foramina Parietalia Permagna Caitlin Marks Cranium Bifidum Cranium Bifidum Occultum Fenestrae Parietals Symmetricae Fpp Giant Parietal Foramina Pfm Fenestrae Parietales Symmetricae Foramina, Parietal
Acromesomelic Dysplasia 2b	Fibular Hypoplasia And Complex Brachydactyly Du Pan Syndrome AMD2B Dupans Fibular Aplasia-Complex Brachydactyly Syndrome
Pulmonary Hypertension	Primary Pulmonary Hypertension Hypertension Pulmonary Hypertension, Pulmonary Idiopathic Pulmonary Hypertension Idiopathic Pulmonary Arterial Hypertension Pulmonary Htn - [Hypertension]
Breast Giant Fibroadenoma	Giant Fibroadenoma Giant Fibroadenoma Of Breast
Proximal Symphalangism	Cushing'S Symphalangism Symphalangism, Proximal Hereditary Absence Of Proximal Interphalangeal Joints Strasburger-Hawkins-Eldridge Syndrome Strasburger-Hawkins-Eldridge-Hargrave-Mckusick Syndrome Symphalangism, Proximal, 1a Symphalangism, Proximal, 1b Vessel'S Syndrome Symphalangism, Cushing Type
Infertility

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

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01549	BMPR1B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS01550	Bmpr1b Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS01551	Bmpr1b Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-174774	Human BMPR1B mRNA		/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P991882	Anti-BMPR1B Antibody		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	BMPR1B	VGNC	VGNC:70267
Canis familiaris	BMPR1B	VGNC	VGNC:38485
Rattus norvegicus	BMPR1B	RGD	RGD:1595863
Bos taurus	BMPR1B	VGNC	VGNC:26525
Felis catus	BMPR1B	VGNC	VGNC:60138
Mus musculus	BMPR1B	MGD	MGI:107191
Others	BMPR1B	NCBI