BMPR1A - bone morphogenetic protein receptor type 1A Gene

Also Known as ALK3; SKR5; ALK-3; CD292; ACVRLK3; BMPR-1A; 10q23del

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 657

About BMPR1A

Cytogenetic location: 10q23.2 Genomic coordinates (GRCh38): 10:86,755,763-86,927,969 (from NCBI)

This gene has 5 transcripts (splice variants), 221 orthologues, 11 paralogues and is associated with 83 phenotypes. Ubiquitous expression in thyroid (RPKM 14.8), endometrium (RPKM 10.0) and 23 other tissues.

Summary

The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta Superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 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. [provided by RefSeq, Jul 2008]

BMPR1A Products (42)

mRNA Protein Name
XM_011540103.3 XP_011538405.1 bone morphogenetic protein receptor type-1A isoform X1
NM_001406574.1 NP_001393503.1 bone morphogenetic protein receptor type-1A isoform 3
XM_047425678.1 XP_047281634.1 bone morphogenetic protein receptor type-1A isoform X1
NM_001406589.1 NP_001393518.1 bone morphogenetic protein receptor type-1A isoform 6
NM_001406588.1 NP_001393517.1 bone morphogenetic protein receptor type-1A isoform 5
NM_001406559.1 NP_001393488.1 bone morphogenetic protein receptor type-1A isoform 1
XM_047425677.1 XP_047281633.1 bone morphogenetic protein receptor type-1A isoform X1
NM_001406580.1 NP_001393509.1 bone morphogenetic protein receptor type-1A isoform 3 precursor
NM_001406579.1 NP_001393508.1 bone morphogenetic protein receptor type-1A isoform 3
NM_001406570.1 NP_001393499.1 bone morphogenetic protein receptor type-1A isoform 3 precursor
NM_001406564.1 NP_001393493.1 bone morphogenetic protein receptor type-1A isoform 3 precursor
NM_001406566.1 NP_001393495.1 bone morphogenetic protein receptor type-1A isoform 3 precursor
NM_001406575.1 NP_001393504.1 bone morphogenetic protein receptor type-1A isoform 3
NM_001406567.1 NP_001393496.1 bone morphogenetic protein receptor type-1A isoform 3
NM_001406562.1 NP_001393491.1 bone morphogenetic protein receptor type-1A isoform 3 precursor
NM_001406565.1 NP_001393494.1 bone morphogenetic protein receptor type-1A isoform 3
NR_176211.1
XM_047425679.1 XP_047281635.1 bone morphogenetic protein receptor type-1A isoform X1
NM_001406584.1 NP_001393513.1 bone morphogenetic protein receptor type-1A isoform 5
XM_047425680.1 XP_047281636.1 bone morphogenetic protein receptor type-1A isoform X1
NM_001406578.1 NP_001393507.1 bone morphogenetic protein receptor type-1A isoform 3
NM_001406586.1 NP_001393515.1 bone morphogenetic protein receptor type-1A isoform 5
XM_047425676.1 XP_047281632.1 bone morphogenetic protein receptor type-1A isoform X1
NR_176213.1
NM_001406581.1 NP_001393510.1 bone morphogenetic protein receptor type-1A isoform 3 precursor
NM_004329.3 NP_004320.2 bone morphogenetic protein receptor type-1A isoform 3 precursor
NM_001406576.1 NP_001393505.1 bone morphogenetic protein receptor type-1A isoform 3 precursor
NM_001406561.1 NP_001393490.1 bone morphogenetic protein receptor type-1A isoform 3
NM_001406568.1 NP_001393497.1 bone morphogenetic protein receptor type-1A isoform 3 precursor
NM_001406560.1 NP_001393489.1 bone morphogenetic protein receptor type-1A isoform 2
NM_001406587.1 NP_001393516.1 bone morphogenetic protein receptor type-1A isoform 5
XM_011540104.3 XP_011538406.1 bone morphogenetic protein receptor type-1A isoform X1
NM_001406583.1 NP_001393512.1 bone morphogenetic protein receptor type-1A isoform 4
NM_001406585.1 NP_001393514.1 bone morphogenetic protein receptor type-1A isoform 5
NM_001406569.1 NP_001393498.1 bone morphogenetic protein receptor type-1A isoform 3
NM_001406571.1 NP_001393500.1 bone morphogenetic protein receptor type-1A isoform 3 precursor
NM_001406572.1 NP_001393501.1 bone morphogenetic protein receptor type-1A isoform 3
NM_001406582.1 NP_001393511.1 bone morphogenetic protein receptor type-1A isoform 3
NM_001406573.1 NP_001393502.1 bone morphogenetic protein receptor type-1A isoform 3 precursor
NR_176212.1
NM_001406563.1 NP_001393492.1 bone morphogenetic protein receptor type-1A isoform 3 precursor
NM_001406577.1 NP_001393506.1 bone morphogenetic protein receptor type-1A isoform 3
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
10881198 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
18436533 GOA
enables protein serine/threonine kinase activity IDA
IDA: Inferred from direct assay
12065756 GOA
enables transforming growth factor beta receptor activity, type I IDA
IDA: Inferred from direct assay
9136927 GOA
Biological Process GO Annotation Evidence References Source
involved in BMP signaling pathway IDA
IDA: Inferred from direct assay
9389648 GOA
involved in BMP signaling pathway IMP
IMP: Inferred from mutant phenotype
24882581 GOA
involved in angiogenesis IMP
IMP: Inferred from mutant phenotype
24882581 GOA
involved in cellular response to BMP stimulus IMP
IMP: Inferred from mutant phenotype
18326817 GOA
involved in immune response IMP
IMP: Inferred from mutant phenotype
16886151 GOA
involved in negative regulation of smooth muscle cell migration IMP
IMP: Inferred from mutant phenotype
18667463 GOA
involved in positive regulation of SMAD protein signal transduction IDA
IDA: Inferred from direct assay
9389648 GOA
involved in positive regulation of SMAD protein signal transduction IMP
IMP: Inferred from mutant phenotype
24882581 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
24882581 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
involved in positive regulation of vascular associated smooth muscle cell proliferation IMP
IMP: Inferred from mutant phenotype
18667463 GOA
involved in transforming growth factor beta receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
36641752 GOA
Cellular Component GO Annotation Evidence References Source
colocalizes with caveola IMP
IMP: Inferred from mutant phenotype
15657086 GOA
located in external side of plasma membrane IDA
IDA: Inferred from direct assay
24904118 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
15657086 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

BMPR1A Protein Structure

Activin_recp

Activin_recp: Activin types I and II receptor domain (59 - 137)

TGF_beta_GS

TGF_beta_GS: Transforming growth factor beta type I GS-motif (204 - 232)

Pkinase

Pkinase: Protein kinase domain (235 - 519)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 532 a.a.
Protein Preferred Names Protein Names

bone morphogenetic protein receptor type-1A

  • BMP type-1A receptor

  • activin A receptor, type II-like kinase 3

  • activin receptor-like kinase 3

  • bone morphogenetic protein receptor, type IA

  • serine/threonine-protein kinase receptor R5

BMPR1A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
BMPR1A P36894 BMP2 Homo sapiens P12643 19804412
Intra
BMPR1A P36894 BMP4 Homo sapiens P12644
SPR
20860622
Intra
BMPR1A P36894 GDF5 Homo sapiens P43026
SPR
19229295
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant BMPR1A Proteins

Cat. No. Product Name Accession Purity
HY-P7484 BMPR1A/ALK-3 Protein, Human (HEK293, Fc-His) P36894 (Q24-R152) ≥ 95%, as determined by reducing SDS-PAGE.
HY-P75594 BMPR1A/ALK-3 Protein, Human (HEK293, His) P36894 (Q24-R152) ≥ 85%, as determined by reducing SDS-PAGE.

BMPR1A Antibodies

Cat. No. Product Name Application Reactivity
HY-P84287 BMPR1A Antibody (YA3984) WB, IHC-P, ICC/IF, FC, ELISA Human
HY-P84287A BMPR1A Antibody (YA3984)(PBS only) WB, IHC-P, ICC/IF, FC, ELISA Human
HY-P87255 BMPR1A Antibody WB, IHC-P, IHC-F, IF-Tissue Human, Rat

Related Diseases

Diseases Alias
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

Generalized Juvenile Polyposis/Juvenile Polyposis Coli
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

Tumor Predisposition Syndrome
  • TPDS

  • Tumor Predisposition

Lipoma Of Colon
  • Colonic Lipoma

  • Colon Lipoma

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

Microcephaly
  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly

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
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
  • Cronkhite-Canada Syndrome

  • Gastric Cronkhite Canada Polyposis

  • Cronkhite-Canada Disease

  • Polyposis Skin Pigmentation Alopecia Fingernail Changes

  • Gastrointestinal Polyposis-Ectodermal Changes Syndrome

  • Gastrointestinal Polyposis-Skin Pigmentation-Alopecia-Fingernail Changes Syndrome

  • Polyposis, Gastrointestinal, With Ectodermal Changes

Desmoid Tumor
  • Aggressive Fibromatosis

  • Desmoid Type Fibromatosis

  • Familial Infiltrative Fibromatosis

  • Desmoid Disorder, Hereditary

  • Fif

  • Fibromatosis, Familial Infiltrative

  • Deep Fibromatosis

  • Desmoid Fibromatosis

  • Hereditary Desmoid Disease

  • Musculoaponeurotic Fibromatosis

  • Desmoid-Type Fibromatosis

  • Fibromatosis, Aggressive

  • Desmoid Disease, Hereditary

  • Musculo-Aponeurotic Fibromatosis

Cowden Syndrome
  • Cowden Disease

  • Multiple Hamartoma Syndrome

  • Cowden'S Disease

  • Lhermitte-Duclos Disease

  • Cd

  • Cs

  • Mham

  • Dysplastic Gangliocytoma Of Cerebellum

  • Cowden'S Syndrome

  • Hamartoma Syndrome, Multiple

Diffuse Gastric Cancer
  • Hereditary Diffuse Gastric Adenocarcinoma

  • Hereditary Diffuse Gastric Cancer

  • Signet Cell Adenocarcinoma

  • Signet Ring Cell Carcinoma

  • Signet Ring Cell Gastric Carcinoma

  • Signet Ring Gastric Carcinoma

  • Fdgc

  • Familial Diffuse Cancer Of Stomach

  • Familial Diffuse Gastric Cancer

  • Gastric Cancer, Familial Diffuse

  • Gastric Cancer, Hereditary Diffuse

  • Hdgc

  • Hereditary Diffuse Cancer Of Stomach

  • Diffuse Gastric Cancer Syndrome

  • Cancer, Gastric, Diffuse

  • Carcinoma, Signet Ring Cell

  • Gastric Signet Ring Carcinoma

Hereditary Breast Ovarian Cancer Syndrome
  • Hereditary Breast And Ovarian Cancer Syndrome

  • Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

  • Breast And/Or Ovarian Cancer

  • Breast And Ovarian Cancer Syndrome

  • Hboc Syndrome

  • Hereditary Breast And Ovarian Cancer

  • Brca1- Brca2-Associated Hboc

Pseudohermaphroditism
  • Indeterminate Sex And Pseudohermaphroditism

Arteriovenous Malformation
  • Arteriovenous Malformations

  • Arteriovenous Hemangioma

  • Cirsoid Aneurysm

  • Racemose Aneurysm

  • Racemose Angioma

  • Racemose Hemangioma

  • Congenital Arteriovenous Malformation

Hemochromatosis Type 2
  • Juvenile Hemochromatosis

  • Juvenile Hereditary Hemochromatosis

  • Hfe2

  • Jhh

  • Hemochromatosis Juvenile

  • Iron Overload Disease Juvenile

  • Hemochromatosis, Juvenile

  • Hemochromatosis, Type 2

  • Hemochromatosis

  • Hemochromatosis, Type 1

Diffuse Gastric And Lobular Breast Cancer Syndrome
  • Hereditary Diffuse Gastric Cancer

  • HDGC

  • LBC

  • Familial Diffuse Gastric Cancer

  • Fdgc

  • Hereditary Diffuse Gastric Adenocarcinoma

  • Breast Cancer, Lobular

  • Gastric Cancer, Familial Diffuse, And Cleft Lip With Or Without Cleft Palate

  • DGLBC

  • Gastric Cancer, Hereditary Diffuse

  • Gastric Cancer, Familial Diffuse Breast Cancer, Lobular

  • Diffuse Gastric And Lobular Breast Cancer Syndrome With Or Without Cleft Lip And/Or Palate

  • E-Cadherin-Associated Hereditary Gastric Cancer

  • Familial Diffuse Cancer Of Stomach

  • Hereditary Diffuse Cancer Of Stomach

  • Gastric Cancer Familial Diffuse

  • Gastric Cancer Familial Diffuse And Cleft Lip With Or Without Cleft Palate

  • Cancer, Gastric, Hereditary Diffuse

Large Intestine Lipoma
  • Lipoma Of Large Intestine

  • Colorectal Lipoma

Intussusception
  • Intussusception Of Intestine

  • Invagination Of Intestine Or Colon

Atrioventricular Septal Defect
  • AVSD

  • Atrioventricular Canal Defect

  • Avcd

  • Endocardial Cushion Defect

  • Ecd

  • Avc Defect

  • Atrioventricular Septal Defect, Susceptibility To, 1

  • Atrioventricular Septal Defect 1

  • Endocardial Cushion Defects

  • Septal Defect, Atrioventricular

  • Atrioventricular Defect With Atrial Shunting Only

  • Incomplete Atrioventricular Septal Defect With Isolated Atrial Component

  • Incomplete Atrioventricular Canal Defect With Isolated Atrial Component

  • Primum Atrial Septal Defect

  • Partial Atrioventricular Canal Defect With Isolated Atrial Component

  • Partial Atrioventricular Septal Defect, Ostium Primum Type

  • Ostium Primum Atrial Septal Defect

  • Partial Atrioventricular Canal Defect

  • Partial Atrioventricular Septal Defect

  • Atrial Septum Primum Defect

  • Atrioventricular Canal Defect With Isolated Ventricular Component

  • Atrioventricular Canal Defect With Isolated Ventricular Communication

  • Atrioventricular Septal Defect With Isolated Ventricular Component

  • Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting

  • Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve

  • Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves

  • Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect

  • Intermediate Atrioventricular Canal Defect

  • Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices

  • Intermediate Atrioventricular Septal Defect

  • Transitional Atrioventricular Canal Defect

  • Transitional Atrioventricular Septal Defect

  • Complete Atrioventricular Canal With Atrial And Ventricular Components

  • Complete Atrioventricular Canal Defect

  • Complete Atrioventricular Septal Defect

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

Hereditary Mixed Polyposis Syndrome
  • Hmps

Cowden Syndrome 1
  • Pten Hamartoma Tumor Syndrome

  • Bannayan-Riley-Ruvalcaba Syndrome

  • Lhermitte-Duclos Disease

  • Bannayan-Zonana Syndrome

  • Phts

  • Riley-Smith Syndrome

  • Bzs

  • Ruvalcaba-Myhre-Smith Syndrome

  • Multiple Hamartoma Syndrome

  • Rmss

  • Brrs

  • Dysplastic Gangliocytoma Of The Cerebellum

  • CWS1

  • Cs

  • Cd

  • Mham

  • Pten Hamartoma Tumor Syndrome With Granular Cell Tumor

  • Macrocephaly Multiple Lipomas And Hemangiomata

  • Bannayan-Ruvalcaba-Riley Syndrome

  • Myhre-Riley-Smith Syndrome

  • LDD

  • Cerebelloparenchymal Disorder Vi

  • Hamartoma Syndrome, Multiple

  • Bbrs

  • Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata

  • Macrocephaly, Multiple Lipomas, And Hemangiomata

  • Macrocephaly Pseudopapilledema And Multiple Hemangiomas

  • Ruvalcaba -Myhre-Smith Syndrome

  • Ruvalcaba-Myhre Syndrome

  • Cowden Disease

  • Macrocephaly Pseudopapilledema And Multiple Hemangiomata

  • Cerebellar Granule Cell Hypertrophy And Megalencephaly

  • Cpd6

  • Lhermitte-Duclos Syndrome

  • Pten Hamartoma Tumor Syndromes

  • Cowden Syndrome, Type 1

Familial Adenomatous Polyposis
  • Adenomatous Polyposis Coli

  • Fap

  • Familial Multiple Polyposis Syndrome

  • Adenomatous Polyposis Of The Colon

  • Familial Intestinal Polyposis

  • Familial Polyposis Coli

  • Fpc

  • Familial Adenomatous Polyposis Of The Colon

  • Familial Multiple Polyposis

  • Familial Polyposis Of The Colon

  • Hereditary Polyposis Coli

  • Polyposis, Adenomatous Intestinal

  • Adenomatous Familial Polyposis

  • Adenomatous Familial Polyposis Syndrome

  • Myh-Associated Polyposis

  • Colorectal Adenomatous Polyposis

  • Adenomatous Polyposis, Familial

  • Mutyh-Associate Polyposis

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

Chromosome 10q23 Deletion Syndrome
Telangiectasis
  • Telangiectasia

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

Tooth Agenesis
  • Oligodontia

  • Hypodontia

  • Selective Tooth Agenesis

  • Tooth Agenesis, Selective

  • Familial Tooth Agenesis

  • Anodontia

  • Congenital Absence Of One Tooth

Leber Congenital Amaurosis 17
  • LCA17

  • Leber Congenital Amaurosis, Type 17

Li-Fraumeni Syndrome
  • Sarcoma Family Syndrome Of Li And Fraumeni

  • Sbla Syndrome

  • LFS

  • Li-Fraumeni Familiar Cancer Susceptibility Syndrome

  • Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome

  • Lfs1

  • Li Fraumeni Syndrome

  • Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome

  • Lfl

  • Sbla Syndrome Li-Fraumeni-Like Syndrome

  • Li-Fraumeni Syndrome 1

Juvenile Polyposis Of Infancy
  • Infantile Juvenile Polyposis Syndrome

Lung Combined Large Cell Neuroendocrine Carcinoma
  • Combined Large Cell Neuroendocrine Carcinoma Of Lung

  • Pulmonary Combined Large Cell Neuroendocrine Carcinoma

  • Combined Large Cell Lung Neuroendocrine Carcinoma

Inherited Cancer-Predisposing Syndrome
  • Hereditary Cancer-Predisposing Syndrome

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

Lynch Syndrome
  • Hereditary Nonpolyposis Colon Cancer

  • Hereditary Nonpolyposis Colorectal Cancer

  • Hereditary Nonpolyposis Colorectal Carcinoma

  • Hereditary Nonpolyposis Colorectal Neoplasms

  • Familial Nonpolyposis Colon Cancer

  • Hnpcc

  • Coca 1

  • Hereditary Defective Mismatch Repair Syndrome

  • Hereditary Non-Polyposis Colon Cancer

  • Hereditary Non-Polyposis Colon Cancer Syndrome

  • Hereditary Non-Polyposis Colorectal Cancer

  • Hereditary Non-Polyposis Colorectal Cancer Syndrome

  • Hereditary Nonpolyposis Colon Cancer Syndrome

  • Hereditary Nonpolyposis Colorectal Cancer Syndrome

  • Hereditary Nonpolyposis Colorectal Neoplasm

  • Hnpcc - Hereditary Nonpolyposis Colon Cancer

  • Cancer Family Syndrome

  • Familial Nonpolyposis Colorectal Cancer

  • Colon Cancer, Familial Nonpolyposis

  • Colorectal Neoplasms, Hereditary Nonpolyposis

  • Cancer, Colorectal, Nonpolyposis, Hereditary

  • Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Familial Adenomatous Polyposis 2
  • Mutyh-Related Attenuated Familial Adenomatous Polyposis

  • FAP2

  • Colorectal Adenomatous Polyposis, Autosomal Recessive

  • Adenomas, Multiple Colorectal

  • Mutyh-Associated Polyposis

  • Mutyh-Related Attenuated Familial Polyposis Coli

  • Mutyh-Related Attenuated Fap

  • Adenomas, Multiple Colorectal, Autosomal Recessive

  • Mutyh-Related Afap

  • Adenomas Multiple Colorectal Autosomal Recessive

  • Colorectal Adenomatous Polyposis Autosomal Recessive

  • Adenomatous Polyposis, Familial, Type 2

Protein-Losing Enteropathy
  • Protein-Losing Enteropathies

  • Enteropathy, Exudative

  • Exudative Enteropathy

  • Ple - [Protein-Losing Enteropathy]

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

Double Outlet Right Ventricle
  • Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect

  • Taussig-Bing Syndrome

  • Dextrotransposition Of Aorta

  • Taussig-Bing Syndrome Or Defect

  • Dorv

  • Dorv With Subpulmonary Vsd

  • Dorv-Tga

  • Double Outlet Right Ventricle With Transposition Of The Great Arteries

  • Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type

  • Taussig-Bing Heart

  • Taussig-Bing Malformation

  • Taussig-Bing Complex

  • Taussig-Bing Defect

  • Taussig-Bing

  • Double Outlet Right Ventricle With Remote Ventricular Septal Defect

  • Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect

  • Double Outlet Right Ventricle With Non-Committed Interventricular Communication

  • Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis

  • Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis

Cleft Palate, Isolated
  • Cleft Palate

  • Isolated Cleft Palate

  • CPI

  • Cp

  • Palatoschisis

  • Cleft Palate Isolated

  • Uranostaphyloschisis

  • Congenital Fissure Of Palate

  • Cleft Of Secondary Palate

Pulmonary Hypertension
  • Primary Pulmonary Hypertension

  • Hypertension Pulmonary

  • Hypertension, Pulmonary

  • Idiopathic Pulmonary Hypertension

  • Idiopathic Pulmonary Arterial Hypertension

  • Pulmonary Htn - [Hypertension]

Orofacial Cleft
  • Cleft, Orofacial

Polyposis Syndrome, Hereditary Mixed, 2
  • HMPS2

  • Hereditary Mixed Polyposis Syndrome 2

  • Polyposis Syndrome, Mixed Hereditary 2

  • Polyposis Syndrome, Hereditary Mixed, Type 2

Split-Hand/Foot Malformation 2
  • SHFM2

  • Shfd2

  • Shsf2

  • Split Hand/Foot Malformation 2

  • Split Hand-Foot Malformation 2

  • Split-Hand/Split-Foot Anomaly, X-Linked

  • Split-Hand/Foot Deformity 2

  • Split Hand/Foot Malformation X-Linked

  • Split Hand Foot Anomaly - X-Linked

  • Split Hand Foot Deformity 2

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

Familial Colorectal Cancer Type X
  • Fcctx

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

Orthologs Information

Species Symbol Source ID
Canis familiaris BMPR1A VGNC VGNC:38484
Macaca mulatta BMPR1A VGNC VGNC:100301
Mus musculus BMPR1A MGD MGI:1338938
Felis catus BMPR1A VGNC VGNC:60137
Rattus norvegicus BMPR1A RGD RGD:70989
Bos taurus BMPR1A VGNC VGNC:26524
Others BMPR1A NCBI