2. Gene
  3. ACVR2B - activin A receptor type 2B Gene

ACVR2B - activin A receptor type 2B Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as HTX4; ACTRIIB; ActR-IIB

Gene ID: 93 | Gene type: protein coding

About ACVR2B

Cytogenetic location: 3p22.2 Genomic coordinates (GRCh38): 3:38,453,890-38,493,142 (from NCBI)

This gene has 3 transcripts (splice variants), 259 orthologues, 11 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 1.5), brain (RPKM 1.3) and 25 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. Type II receptors are considered to be constitutively active kinases. This gene encodes Activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than Activin A type II receptor. [provided by RefSeq, Jul 2008]

ACVR2B Products(5)

mRNA Protein Name
XM_017007515.3 XP_016863004.1 activin receptor type-2B isoform X3
XM_017007516.2 XP_016863005.1 activin receptor type-2B isoform X4
NM_001106.4 NP_001097.2 activin receptor type-2B precursor
XM_005265583.4 XP_005265640.1 activin receptor type-2B isoform X1
XM_017007514.2 XP_016863003.1 activin receptor type-2B isoform X2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables activin receptor activity, type II IDA
IDA: Inferred from direct assay
8395525 GOA
enables growth factor binding IPI
IPI: Inferred from physical interaction
14517293 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
8622651 GOA
enables protein serine/threonine kinase activity EXP
EXP: Inferred from Experiment
8622651 GOA
enables protein serine/threonine kinase activity IMP
IMP: Inferred from mutant phenotype
8622651 GOA
Biological Process GO Annotation Evidence Reference Source
involved in BMP signaling pathway IDA
IDA: Inferred from direct assay
18436533 GOA
involved in BMP signaling pathway IMP
IMP: Inferred from mutant phenotype
19903896 GOA
involved in activin receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
18326817 GOA
involved in anterior/posterior pattern specification IMP
IMP: Inferred from mutant phenotype
9916847 GOA
involved in negative regulation of transcription by RNA polymerase II IGI
IGI: Inferred from genetic interaction
18326817 GOA
involved in positive regulation of activin receptor signaling pathway IDA
IDA: Inferred from direct assay
8622651 GOA
involved in positive regulation of bone mineralization IMP
IMP: Inferred from mutant phenotype
18436533 GOA
involved in positive regulation of osteoblast differentiation IMP
IMP: Inferred from mutant phenotype
18436533 GOA
involved in regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
8622651 GOA
involved in signal transduction IDA
IDA: Inferred from direct assay
8622651 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
14738881 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
24019467 GOA
part of receptor complex IPI
IPI: Inferred from physical interaction
9872992 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

ACVR2B Protein Structure

Activin_recp

Activin_recp: Activin types I and II receptor domain (28 - 116)

Pkinase

Pkinase: Protein kinase domain (191 - 474)

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

activin receptor type-2B

activin A receptor, type IIB

Recombinant ACVR2B Proteins

Cat. No. Product Name Accession Purity
HY-P7456 ACVR2B Protein, Human (HEK293, His) Q13705 (S19-T134) ≥95%
HY-P72813 ACVR2B Protein, Human (HEK293, Fc) Q13705 (S19-T134) ≥95%
HY-P700557 ACVR2B Protein, Human (P. pastoris, N-His) Q13705 (S19-T137) ≥95%

Related Diseases

Diseases Alias
Myopathy

Muscular Diseases

Myopathies
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
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
Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy
Heterotaxy, Visceral, 4, Autosomal

Left-Right Axis Malformations

HTX4

Heterotaxy, Visceral, Autosomal, Type 4
Dextrocardia

Heart Predominantly In Right Hemithorax

Heart In Right Chest

Right-Sided Heart

Congenital Dextrocardia Of Heart

Transposition Of Heart
Right Aortic Arch
Right Atrial Isomerism

Ivemark Syndrome

Asplenia With Cardiovascular Anomalies

RAI

Asplenia Syndrome

Asplenia

Right Isomerism

Splenic Agenesis Syndrome

Bilateral Right-Sidedness Sequence

Right Sided Atrial Isomerism

Isomerism Of Right Atrial Appendage

Heterotaxy, Visceroatrial, Autosomal Recessive

Polyasplenia

Vah, Autosomal Recessive

Atrial Isomerism, Right

Congenital Absence Of Spleen

Bilateral Right-Sidedness
Kartagener Syndrome

Kartagener'S Syndrome
Primary Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary
Visceral Heterotaxy

Situs Ambiguus

Heterotaxia

Heterotaxy Syndrome

Heterotaxy

Lateralization Defect

Situs Ambiguous

Left Isomerism

Htx

Ivemark Syndrome

Right Isomerism

Situs Ambiguus Viscerum

Incomplete Situs Inversus

Partial Situs Inversus

Heterotaxy, Visceral

Asplenia Syndrome

Bilateral Left-Sidedness

Polysplenia Syndrome

Moller Syndrome
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
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

Clinical Phase
Inhibitory Antibodies (1)
Cat. No. Product Name Effect
Purity Phase
HY-P99355 Bimagrumab Inhibitor 99.07% Phase 3

Orthologs Information

Species Symbol Source ID
Macaca mulatta ACVR2B VGNC VGNC:69450
Canis familiaris ACVR2B VGNC VGNC:37565
Mus musculus ACVR2B MGD MGI:87912
Bos taurus ACVR2B VGNC VGNC:25596
Felis catus ACVR2B VGNC VGNC:59566
Rattus norvegicus ACVR2B RGD RGD:2028
Macaca fascicularis ACVR2B NCBI NCBI:102118668
Others ACVR2B NCBI