ACVR2A - activin A receptor type 2A Gene

Also Known as ACVR2; ACTRII

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 92

About ACVR2A

Cytogenetic location: 2q22.3-q23.1 Genomic coordinates (GRCh38): 2:147,844,517-147,930,822 (from NCBI)

This gene has 7 transcripts (splice variants), 275 orthologues, 11 paralogues and is associated with 81 phenotypes. Ubiquitous expression in skin (RPKM 13.5), gall bladder (RPKM 6.4) and 25 other tissues.

Summary

This gene encodes a receptor that mediates the functions of activins, which are members of the transforming growth factor-beta (TGF-beta) superfamily involved in diverse biological processes. The encoded protein is a transmembrane serine-threonine kinase receptor which mediates signaling by forming heterodimeric complexes with various combinations of type I and type II receptors and ligands in a cell-specific manner. The encoded type II receptor is primarily involved in ligand-binding and includes an extracellular ligand-binding domain, a transmembrane domain and a cytoplasmic serine-threonine kinase domain. This gene may be associated with susceptibility to preeclampsia, a pregnancy-related disease which can result in maternal and fetal morbidity and mortality. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jun 2013]

ACVR2A Products (4)

mRNA	Protein	Name
NM_001278580.2	NP_001265509.1	activin receptor type-2A isoform 2
XM_047446292.1	XP_047302248.1	activin receptor type-2A isoform X1
NM_001616.5	NP_001607.1	activin receptor type-2A isoform 1 precursor
NM_001278579.2	NP_001265508.1	activin receptor type-2A isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
contributes to activin binding	IPI IPI: Inferred from physical interaction	9032295	GOA
contributes to activin receptor activity	IDA IDA: Inferred from direct assay	12665502	GOA
enables activin receptor activity	IDA IDA: Inferred from direct assay	25368322	GOA
enables coreceptor activity	IDA IDA: Inferred from direct assay	10746731	GOA
contributes to protein binding	IPI IPI: Inferred from physical interaction	10746731	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	8242742	GOA
enables protein serine/threonine kinase activity	EXP EXP: Inferred from Experiment	8622651	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in BMP signaling pathway	IDA IDA: Inferred from direct assay	18436533	GOA
acts upstream of or within BMP signaling pathway	IMP IMP: Inferred from mutant phenotype	17472960	GOA
involved in BMP signaling pathway	IMP IMP: Inferred from mutant phenotype	19366699	GOA
involved in activin receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	12665502	GOA
involved in cellular response to BMP stimulus	IMP IMP: Inferred from mutant phenotype	18326817	GOA
involved in positive regulation of SMAD protein signal transduction	IMP IMP: Inferred from mutant phenotype	19366699	GOA
involved in positive regulation of activin receptor signaling pathway	IDA IDA: Inferred from direct assay	12665502	GOA
involved in positive regulation of bone mineralization	IMP IMP: Inferred from mutant phenotype	18436533	GOA
involved in positive regulation of erythrocyte differentiation	IDA IDA: Inferred from direct assay	9032295	GOA
involved in positive regulation of osteoblast differentiation	IMP IMP: Inferred from mutant phenotype	18436533	GOA
acts upstream of or within positive regulation of protein phosphorylation	IMP IMP: Inferred from mutant phenotype	17472960	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	18326817	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	14738881	GOA
part of inhibin-betaglycan-ActRII complex	IDA IDA: Inferred from direct assay	10746731	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

ACVR2A Protein Structure

Activin_recp

Pkinase

0
100
200
300
400
513 a.a.

Protein Preferred Names	Protein Names
activin receptor type-2A	activin A receptor, type IIA

Recombinant ACVR2A Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7455	ACVR2A/Activin RIIA Protein, Human/Cynomolgus (HEK293, His, solution)	P27037-1/G7PKJ4 (A20-P134)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P75537	ACVR2A/Activin RIIA Protein, Human/Cynomolgus (HEK293, Fc)	P27037-1/G7PKJ4 (A20-P135)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P7455A	ACVR2A/Activin RIIA Protein, Human/Cynomolgus (HEK293, His)	P27037-1/G7PKJ4 (A20-P134)	≥ 95%, as determined by reducing SDS-PAGE.

ACVR2A Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83050	Activin Receptor Type IIA Antibody (YA2795)	WB	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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
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
Mbd5 Haploinsufficiency	2q23.1 Microdeletion Syndrome 2q23.1 Microduplication Syndrome Del(2)(Q23.1) Monosomy 2q23.1 Pseudo-Angelman Syndrome Mbd5 Associated Neurodevelopmental Disorder Chromosome 2q23.1 Microdeletion Syndrome Mbd5-Associated Neurodevelopmental Disorder Mand Dup(2)(Q23.1) Trisomy 2q23.1
Chondroma	Central Chondroma Enchondroma
Pre-Eclampsia	Preeclampsia Gestational Hypertension Hypertension Induced By Pregnancy Pre-Eclamptic Toxaemia Pregnancy Associated Hypertension Proteinuric Hypertension Of Pregnancy Hypertension, Pregnancy-Induced, Susceptibility To Preeclampsia/Eclampsia Pregnancy Toxemia Toxaemia Of Pregnancy Gestational Proteinuric Hypertension Pregnancy-Induced Hypertension Toxemia Of Pregnancy Preeclampsia, Susceptibility To Transient Hypertension Of Pregnancy Gestational [Pregnancy-Induced] Hypertension Without Significant Proteinuria Gestational Hypertension Nos Mild Proteinuric Hypertension Of Pregnancy Pih - [Pregnancy-Induced Hypertension] Pregnancy-Induced Hypertension Nos Gestational [Pregnancy-Induced] Hypertension With Significant Proteinuria Pe - [Pre-Eclampsia] Pre-Eclampsia Nos Pre-Eclamptic Nos Pregnancy Pre-Eclampsia Puerperal Pre-Eclampsia Pre-Eclampsia Toxaemia Toxaemia In Pregnancy Pet - [Pre-Eclamptic Toxaemia] Maternal Toxaemia
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
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Soft Tissue Chondroma	Extraskeletal Chondroma

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

Approval
Clinical Phase
Pre-clinical Phase

Approval

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P99590	Sotatercept		99.94%	Unkown

Clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Phase
HY-117887	Fidrisertib	Inhibitor	98.58%	Phase 2
HY-157442	GLPG3312	Antagonist	98.63%	Phase 1

Inhibitory Antibodies (1)

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

Pre-clinical Phase

Bioactive Molecules (1)

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

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ACVR2A	MGD	MGI:102806
Felis catus	ACVR2A	VGNC	VGNC:59565
Macaca mulatta	ACVR2A	VGNC	VGNC:69447
Bos taurus	ACVR2A	VGNC	VGNC:25595
Rattus norvegicus	ACVR2A	RGD	RGD:70911
Canis familiaris	ACVR2A	VGNC	VGNC:37564
Others	ACVR2A	NCBI