ACVR2B - activin A receptor type 2B Gene

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

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

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

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