ACVR2A - activin A receptor type 2A Gene

Homo sapiens

Also known as ACVR2; ACTRII

Gene ID: 92 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 (HEK293, His, solution)	P27037 (A20-P134)	≥95%
HY-P75537	ACVR2A/Activin RIIA Protein, Human (HEK293, Fc)	P27037-1 (A20-P135)	≥95%
HY-P7455A	ACVR2A/Activin RIIA Protein, Human (HEK293, C-His)	P27037-1 (A20-P134)	≥95%

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

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P99590	Sotatercept		99.61%	Unkown

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
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

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