ACVR1 - activin A receptor type 1 Gene

Also Known as FOP; ALK2; SKR1; TSRI; ACTRI; ACVR1A; ACVRLK2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 90

About ACVR1

Cytogenetic location: 2q24.1 Genomic coordinates (GRCh38): 2:157,736,446-157,876,330 (from NCBI)

This gene has 26 transcripts (splice variants), 174 orthologues, 11 paralogues and is associated with 77 phenotypes. Ubiquitous expression in thyroid (RPKM 15.1), gall bladder (RPKM 9.4) and 23 other tissues.

Summary

Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes Activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008]

ACVR1 Products (7)

mRNA Protein Name
NM_001347667.2 NP_001334596.1 activin receptor type-1 precursor
NM_001347664.1 NP_001334593.1 activin receptor type-1 precursor
NM_001111067.4 NP_001104537.1 activin receptor type-1 precursor
NM_001105.5 NP_001096.1 activin receptor type-1 precursor
NM_001347663.1 NP_001334592.1 activin receptor type-1 precursor
NM_001347666.1 NP_001334595.1 activin receptor type-1 precursor
NM_001347665.1 NP_001334594.1 activin receptor type-1 precursor
Molecular Function GO Annotation Evidence References Source
enables ATP binding IDA
IDA: Inferred from direct assay
12065756 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 activin binding IDA
IDA: Inferred from direct assay
8242742 GOA
contributes to activin receptor activity, type I IDA
IDA: Inferred from direct assay
8242742 GOA
enables cadherin binding IPI
IPI: Inferred from physical interaction
26598555 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
8242742 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
18436533 GOA
enables protein kinase activity IDA
IDA: Inferred from direct assay
19736306 GOA
enables protein serine/threonine kinase activity IDA
IDA: Inferred from direct assay
12065756 GOA
enables protein tyrosine kinase binding IPI
IPI: Inferred from physical interaction
26598555 GOA
enables transforming growth factor beta binding IDA
IDA: Inferred from direct assay
8242742 GOA
enables transmembrane receptor protein serine/threonine kinase activity IDA
IDA: Inferred from direct assay
19506109 GOA
Biological Process GO Annotation Evidence References Source
involved in BMP signaling pathway IDA
IDA: Inferred from direct assay
12065756 GOA
involved in activin receptor signaling pathway IDA
IDA: Inferred from direct assay
19506109 GOA
involved in activin receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
18326817 GOA
involved in atrial septum primum morphogenesis IMP
IMP: Inferred from mutant phenotype
19506109 GOA
involved in cardiac muscle cell fate commitment IMP
IMP: Inferred from mutant phenotype
19506109 GOA
involved in cellular response to BMP stimulus IMP
IMP: Inferred from mutant phenotype
18326817 GOA
involved in embryonic heart tube morphogenesis IMP
IMP: Inferred from mutant phenotype
19506109 GOA
involved in endocardial cushion cell fate commitment IMP
IMP: Inferred from mutant phenotype
19506109 GOA
involved in mitral valve morphogenesis IMP
IMP: Inferred from mutant phenotype
19506109 GOA
involved in negative regulation of G1/S transition of mitotic cell cycle IMP
IMP: Inferred from mutant phenotype
9884026 GOA
involved in negative regulation of activin receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
9884026 GOA
involved in negative regulation of extrinsic apoptotic signaling pathway IMP
IMP: Inferred from mutant phenotype
9884026 GOA
involved in negative regulation of signal transduction IMP
IMP: Inferred from mutant phenotype
9884026 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
8242742 GOA
involved in positive regulation of SMAD protein signal transduction IDA
IDA: Inferred from direct assay
19506109 GOA
involved in positive regulation of bone mineralization IMP
IMP: Inferred from mutant phenotype
18436533 GOA
involved in positive regulation of cell migration IGI
IGI: Inferred from genetic interaction
19736306 GOA
involved in positive regulation of determination of dorsal identity IDA
IDA: Inferred from direct assay
19506109 GOA
involved in positive regulation of osteoblast differentiation IMP
IMP: Inferred from mutant phenotype
18436533 GOA
involved in positive regulation of peptidyl-tyrosine phosphorylation IMP
IMP: Inferred from mutant phenotype
26598555 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
19506109 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
18326817 GOA
involved in regulation of ossification IMP
IMP: Inferred from mutant phenotype
16642017 GOA
involved in transforming growth factor beta receptor signaling pathway IDA
IDA: Inferred from direct assay
8242742 GOA
Cellular Component GO Annotation Evidence References Source
part of activin receptor complex IDA
IDA: Inferred from direct assay
8242742 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
8242742 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

ACVR1 Protein Structure

Activin_recp

Activin_recp: Activin types I and II receptor domain (33 - 105)

TGF_beta_GS

TGF_beta_GS: Transforming growth factor beta type I GS-motif (178 - 206)

Pkinase

Pkinase: Protein kinase domain (209 - 493)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 509 a.a.
Protein Preferred Names Protein Names

activin receptor type-1

  • TGF-B superfamily receptor type I

  • activin A receptor, type I

  • activin A receptor, type II-like kinase 2

  • activin receptor type I

  • activin receptor-like kinase 2

  • hydroxyalkyl-protein kinase

  • serine/threonine-protein kinase receptor R1

Recombinant ACVR1 Proteins

Cat. No. Product Name Accession Purity
HY-P7482 Activin RIA Protein, Human (HEK293, His) Q04771 (M21-V124) ≥ 80%, as determined by reducing SDS-PAGE.
HY-P72812 Activin RIA Protein, Human (HEK293, His-Fc) Q04771 (M21-V124) ≥ 95%, as determined by reducing SDS-PAGE.

ACVR1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82249 Activin Receptor Type IA Antibody (YA1994) WB, IP Human, Mouse
HY-P82249A Activin Receptor Type IA Antibody (YA1994)(PBS only) WB, IP Human, Mouse
HY-P83198 Activin Receptor Type I Antibody (YA2943) WB, IP Human, Mouse, Rat
HY-P84482 ACVR1 Antibody (YA4179) IHC-P, ICC/IF, FC, ELISA Human
HY-P84482A ACVR1 Antibody (YA4179)(PBS only) IHC-P, ICC/IF, FC, ELISA Human

Related Diseases

Diseases Alias
Epicanthus
Brachydactyly, Type E2
  • Brachydactyly Type E2

  • BDE2

  • Brachydactyly E2

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

Diffuse Midline Glioma, H3 K27m-Mutant
  • Diffuse Intrinsic Pontine Glioma

  • Dipg

  • Infiltrative Brainstem Glioma

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

Hyperostosis
  • Hypertrophy Of Bone

  • Bone Hypertrophy

  • Bone Thickening

  • Periosteum Thickening

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

Brain Stem Cancer
  • Brain Stem Neoplasms

  • Malignant Neoplasm Of Brain Stem

  • Malignant Neoplasm Of Brainstem

  • Neoplasm Of Adult Brain Stem

  • Neoplasm Of Brain Stem

  • Primary Brain Stem Neoplasm

  • Primary Brain Stem Tumor

  • Brain Stem Neoplasm

  • Brain Stem--Cancer

  • Brain Stem Neoplasms, Primary

Craniometaphyseal Dysplasia, Autosomal Dominant
  • Craniometaphyseal Dysplasia

  • CMDD

  • Cmdj

  • Cmd

  • Autosomal Dominant Craniometaphyseal Dysplasia

  • Craniometaphyseal Dysplasia, Jackson Type

  • Craniometaphyseal Dysplasia Jackson Type

  • Autosomal Recessive Craniometaphyseal Dysplasia

  • Cmdr

  • Dysplasia, Craniometaphyseal, Autosomal Dominant

  • Craniometaphyseal Dysplasia, Autosomal Recessive Type

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

Diffuse Idiopathic Skeletal Hyperostosis
  • Hyperostosis, Diffuse Idiopathic Skeletal

  • Ankylosing Vertebral Hyperostosis

  • Dish

  • Disseminated Idiopathic Skeletal Hyperostosis

  • Forestier Disease

  • Forestier'S Disease

  • Hyperostosis Diffuse Idiopathic Skeletal

Leber Congenital Amaurosis 17
  • LCA17

  • Leber Congenital Amaurosis, Type 17

Microphthalmia, Syndromic 6
  • MCOPS6

  • Microphthalmia And Pituitary Anomalies

  • Microphthalmia With Brain And Digit Anomalies

  • Microphthalmia With Brain And Digit Developmental Anomalies

  • Syndromic Microphthalmia Type 6

  • Syndromic Microphthalmia 6

  • Anophthalmia Clinical With Micrognathia Malformed Ears Digital Anomalies And Abnormal External Genitalia

  • Bakrania-Ragge Syndrome

  • Orofacial Cleft 11

  • Anophthalmia, Clinical, With Micrognathia, Malformed Ears, Digital Anomalies, And Abnormal External Genitalia

  • Microphthalmia Syndromic 6

  • Microphthalmia, Syndromic, 6

  • Clinical Anophthalmia With Micrognathia, Malformed Ears, Digital Anomalies And Abnormal External Genitalia

  • Microphthalmia Syndromic, Type 6

Childhood Brain Stem Glioma
  • Pediatric Glioma Of The Brainstem

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

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

Pseudohypoparathyroidism, Type Ia
  • Albright'S Hereditary Osteodystrophy

  • Albright Hereditary Osteodystrophy

  • Pseudohypoparathyroidism Type 1a

  • PHP1A

  • Albright Hereditary Osteodystrophy With Multiple Hormone Resistance

  • Pseudohypoparathyroidism Ia

  • AHO

  • Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy

  • Pseudo-Pseudohypoparathyroidism

  • Pseudohypoparathyroidism Type I A

  • Php Ia

  • Pseudopseudohypoparathyroidism

  • Albright Hereditary Osteodystrophy Without Multiple Hormone Resistance

  • Pphp

  • Pseudopseudo-Hypoparathyroidism

  • Aho-Php Syndrome Ia

  • Albright Hereditary Osteodystrophy-Php Syndrome Ia

  • Pseudohypoparathyroidism 1a

  • Pseudohypoparathyroidism

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

Pulmonary Hypertension
  • Primary Pulmonary Hypertension

  • Hypertension Pulmonary

  • Hypertension, Pulmonary

  • Idiopathic Pulmonary Hypertension

  • Idiopathic Pulmonary Arterial Hypertension

  • Pulmonary Htn - [Hypertension]

Heel Spur
  • Calcaneal Spur

Brain Stem Glioma
  • Brainstem Neuroglial Tumor

  • Brainstem Glioma

  • Glioma Of Brainstem

Chronic Pulmonary Heart Disease
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

Camurati-Engelmann Disease
  • Progressive Diaphyseal Dysplasia

  • Ced

  • Engelmann Disease

  • Diaphyseal Dysplasia 1, Progressive

  • Pdd

  • Diaphyseal Dysplasia

  • Dpd1

  • Camurati-Engelmann Syndrome

  • CAEND

  • Engelman'S Disease

  • Diaphyseal Hyperostosis

  • Diaphyseal Osteosclerosis

Ankylosis
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1a
  • Multiple Pterygium Syndrome, Autosomal Dominant

  • CPSFS1A

  • Contractures, Pterygia, And Spondylocarpostarsal Fusion Syndrome 1a

  • Autosomal Dominant Disease

  • Contractures, Pterygia, And Variable Skeletal Fusions Syndrome 1a

  • Cpskf1a

  • Pterygium Syndrome, Multiple

  • Autosomal Dominant

  • Arthrogryposis, Distal, Type 8, Formerly

  • Da8, Formerly

  • Autosomal Dominant Multiple Pterygium Syndrome

  • Distal Arthrogryposis Type 8

  • Arthrogryposis, Distal, Type 8

  • Da8

  • Pterygium Syndrome, Multiple, Autosomal Dominant

  • Autosomal Dominant Disorder

Myositis Ossificans
  • Myisitis Ossificans

  • Ossification - Muscle

Synostoses, Tarsal, Carpal, And Digital
  • Calcaneonavicular Coalition

  • Multiple Synostosis Syndrome

  • Synostoses, Tarsal, Carpal And Digital

Histone Mutated Tumor
  • Histone Mutated Tumour

Joubert Syndrome 21
  • JBTS21

  • Joubert Syndrome, Type 21

Gastric Adenocarcinoma
  • Adenocarcinoma Of Stomach

  • Stomach Adenocarcinoma

  • Adenocarcinoma Gastric

  • Intestinal Type Adenocarcinoma Of Unspecified Site

  • Diffuse Type Adenocarcinoma Of Unspecified Site

Osseous Heteroplasia, Progressive
  • Progressive Osseous Heteroplasia

  • POH

  • Osteoma Cutis

  • Familial Ectopic Ossification

  • Ectopic Ossification Familial Type

  • Ectopic Ossification

  • Heterotopic Ossification

  • Ectopic Ossification, Familial

  • Cutaneous Ossification

  • Myositis Ossificans Progressiva

  • Osteodermia

  • Osteosis Cutis

  • Ossification Heterotopic

  • Heteroplasia, Osseous, Progressive

  • Fibrodysplasia Ossificans Progressiva

Tarsal-Carpal Coalition Syndrome
  • TCC

  • Tarsal Carpal Coalition Syndrome

  • Nog-Related-Symphalangism Spectrum Disorder

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

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

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

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 ACVR1 VGNC VGNC:37561
Mus musculus ACVR1 MGD MGI:87911
Macaca mulatta ACVR1 VGNC VGNC:69438
Rattus norvegicus ACVR1 RGD RGD:620200
Felis catus ACVR1 VGNC VGNC:59562
Bos taurus ACVR1 VGNC VGNC:25592
Others ACVR1 NCBI