ACVR2A

Official Full Name

activin A receptor type 2A

Organism

Homo sapiens

GeneID

Background

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]

Synonyms

ACVR2; ACTRII;

Bio Chemical Class

Kinase

Protein Sequence

MGAAAKLAFAVFLISCSSGAILGRSETQECLFFNANWEKDRTNQTGVEPCYGDKDKRRHCFATWKNISGSIEIVKQGCWLDDINCYDRTDCVEKKDSPEVYFCCCEGNMCNEKFSYFPEMEVTQPTSNPVTPKPPYYNILLYSLVPLMLIAGIVICAFWVYRHHKMAYPPVLVPTQDPGPPPPSPLLGLKPLQLLEVKARGRFGCVWKAQLLNEYVAVKIFPIQDKQSWQNEYEVYSLPGMKHENILQFIGAEKRGTSVDVDLWLITAFHEKGSLSDFLKANVVSWNELCHIAETMARGLAYLHEDIPGLKDGHKPAISHRDIKSKNVLLKNNLTACIADFGLALKFEAGKSAGDTHGQVGTRRYMAPEVLEGAINFQRDAFLRIDMYAMGLVLWELASRCTAADGPVDEYMLPFEEEIGQHPSLEDMQEVVVHKKKRPVLRDYWQKHAGMAMLCETIEECWDHDAEARLSAGCVGERITQMQRLTNIITTEDIVTVVTMVTNVDFPPKESSL

Open

Disease

Acute myeloid leukaemia, Idiopathic inflammatory myopathy, Muscle disorder

Approved Drug

Clinical Trial Drug

1 +

Discontinued Drug

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Detailed Information

Activin A Receptor Type 2A (ACVR2A) is a vital TGF-β superfamily member. This receptor mediates activins, multifunctional cytokines involved in many physiological and pathological processes. Understanding ACVR2A's structure, signaling processes, and human disease consequences illuminates its biological relevance and therapeutic promise.

Structure of ACVR2A

ACVR2A is a transmembrane serine-threonine kinase receptor with extracellular ligand-binding, transmembrane, and cytoplasmic kinase domains. ACVR2A interacts with Activin A, B, and Inhibin A via this configuration. ACVR2A forms heterodimeric complexes with type I receptors such ALK4, ALK5, and ALK2 after ligand binding. Type II and type I receptors must connect to start downstream signaling cascades.

Activin binding to ACVR2A forms a receptor complex with two type II and two type I receptors, starting the signaling cascade. Active ACVR2A phosphorylates type I receptors, which autophosphorylate and attach to SMAD transcription factors. SMAD proteins must be phosphorylated to enter the nucleus and control target genes involved in cell growth, differentiation, and death.

Due to its great evolutionary conservation across species, ACVR2A is biologically important. The amino acid sequence of ACVR2A is quite stable, indicating its functions have stayed constant throughout evolution.

Biological Functions of ACVR2A

ACVR2A is crucial to embryonic tissue and organ development. Its signaling pathways control cell proliferation, differentiation, and death throughout critical development. The receptor's capacity to form complexes with other type I receptors enables it to respond precisely to changing activin concentrations, controlling developmental processes.

Adipogenesis, the process by which preadipocytes develop, is one of ACVR2A's roles. ACVR2A regulates fat cell growth via GDF6 and other ligands. This function is crucial to metabolic health since adipogenesis dysregulation may cause obesity and associated diseases.

In addition, ACVR2A modulates immune cell function. It affects T cell differentiation and immunological response. ACVR2A maintains immunological homeostasis by balancing pro- and anti-inflammatory signals.

Figure 1 provides a comprehensive view of how ACVR2A mediates critical cellular functions through its interactions in the cytokine-cytokine receptor network. Figure 1. KEGG Pathway: Cytokine-Cytokine Receptor Interaction Involving ACVR2A.

Associations with Disease

The links of ACVR2A with many illnesses highlight its clinical importance. Changes in ACVR2A signaling have been linked to disorders including preeclampsia, a pregnancy-related illness marked by elevated blood pressure and possible harm to other organ systems. Given its significance in mother and fetal health, dysregulation of ACVR2A function may help to explain vulnerability to this disorder.

ACVR2A has also been related to 2Q23.1 microduplication syndrome, a genetic condition connected with developmental delays and neurological abnormalities. Knowing how ACVR2A contributes to various disorders could help one to understand their pathogenesis and guide possible treatment plans.

The participation of ACVR2A in cancer biology has attracted much interest. Many malignancies, including hematological tumors like multiple myeloma, have aberrant signaling via ACVR2A. In this setting, ACVR2A may interact with other receptors to encourage survival and proliferation of tumor cells. For certain forms of cancer, aiming targeting ACVR2A and its related pathways might provide a good treatment approach.

Clarifying the functions of ACVR2A in health and sickness will help us to value the complex network of signaling pathways controlling cellular behavior and investigate fresh options for future therapy.

References:

Glotov AS, Kazakov SV, Vashukova ES, et al. Targeted sequencing analysis of ACVR2A gene identifies novel risk variants associated with preeclampsia. J Matern Fetal Neonatal Med. 2019 Sep;32(17):2790-2796.
Yanan F, Rui L, Xiaoying L, Shuang Z, et al. Association between ACVR2A gene polymorphisms and risk of hypertensive disorders of pregnancy in the northern Chinese population. Placenta. 2020 Jan 15;90:1-8.
Fitzpatrick E, Johnson MP, Dyer TD et al. Genetic association of the activin A receptor gene (ACVR2A) and pre-eclampsia. Mol Hum Reprod. 2009 Mar;15(3):195-204.

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