BMPR1B - bone morphogenetic protein receptor type 1B Gene

Homo sapiens

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

Gene ID: 658 | Gene type: protein coding

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

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

Recombinant BMPR1B Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76174	BMPRIB/ALK-6 Protein, Human (sf9, His-GST)	O00238 (R149-L502)	≥95%
HY-P76175	BMPRIB/ALK-6 Protein, Human (HEK293, Fc)	O00238 (K14-R126)	≥95%

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

Bioactive Molecules (3)

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