ACVR2B - activin A receptor type 2B Gene

Also Known as HTX4; ACTRIIB; ActR-IIB

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 93

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	References	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	References	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	References	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

Pkinase

0
100
200
300
400
512 a.a.

Protein Preferred Names	Protein Names
activin receptor type-2B	activin A receptor, type IIB

ACVR2B Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ACVR2B	Q13705	GDF11	Homo sapiens	O95390	Anti Tag CoIP	33961781
Intra	ACVR2B	Q13705	MSTN	Homo sapiens	O14793	SPR	23829672

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ACVR2B Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7456	ACVR2B Protein, Human/Cynomolgus (HEK293, His)	Q13705-1 (S19-T134)/XP_045242398.1 (S40-T155)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P72813	ACVR2B Protein, Human/Cynomolgus (HEK293, hFc)	Q13705-1 (S19-T134)/XP_045242398.1 (S40-T155)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P700557	ACVR2B Protein, Human/Cynomolgus (P. pastoris, N-His)	Q13705-1 (S19-T137)/XP_045242398.1 (S40-T158)	≥ 90%, as determined by reducing SDS-PAGE.

ACVR2B Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82600	Activin Receptor Type IIB Antibody (YA2345)	WB	Human, Mouse, Rat
HY-P87263	Activin Receptor Type IIB Antibody (YA6947)	WB, IP
HY-P87263A	Activin Receptor Type IIB Antibody (YA6947)(PBS only)	WB, IP

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
Pre-clinical Phase

Clinical Phase

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P99355	Bimagrumab	Inhibitor	99.31%	Phase 3

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-185430	HM-279	Inhibitor	/	Unkown
HY-W1142089	ActRIIB-IN-2	Inhibitor	/	Unkown

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
Others	ACVR2B	NCBI