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ACVR2A activin A receptor type 2A [ Homo sapiens (human) ]

Gene ID: 92, updated on 2-Nov-2024

Summary

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Official Symbol
ACVR2Aprovided by HGNC
Official Full Name
activin A receptor type 2Aprovided by HGNC
Primary source
HGNC:HGNC:173
See related
Ensembl:ENSG00000121989 MIM:102581; AllianceGenome:HGNC:173
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ACVR2; ACTRII
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]
Expression
Ubiquitous expression in skin (RPKM 13.5), gall bladder (RPKM 6.4) and 25 other tissues See more
Orthologs
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Genomic context

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See ACVR2A in Genome Data Viewer
Location:
2q22.3-q23.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (147844517..147930822)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (148294972..148381274)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (148602086..148688391)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:148484865-148485505 Neighboring gene RNA, 5S ribosomal pseudogene 106 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:148513531-148514185 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:148600948-148601698 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11995 Neighboring gene ribosomal protein L26 pseudogene 14 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11997 Neighboring gene RNA, U6 small nuclear 1275, pseudogene Neighboring gene uncharacterized LOC105373674 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:148765513-148766712 Neighboring gene origin recognition complex subunit 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:148777951-148778548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16614 Neighboring gene uncharacterized LOC105373673 Neighboring gene NANOG hESC enhancer GRCh37_chr2:148795224-148795725 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16615 Neighboring gene methyl-CpG binding domain protein 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Mutational analysis of activin/transforming growth factor-beta type I and type II receptor kinases in human pituitary tumors. D'Abronzo FH, et al. J Clin Endocrinol Metab, 1999 May. PMID 10323406
  2. Iodine-131 dose dependent gene expression in thyroid cancers and corresponding normal tissues following the Chernobyl accident. Abend M, et al. PLoS One, 2012. PMID 22848350, Free PMC Article
  3. Self-regulation of the head-inducing properties of the Spemann organizer. Inui M, et al. Proc Natl Acad Sci U S A, 2012 Sep 18. PMID 22949641, Free PMC Article
  4. Loss of heterozygosity and mutational analyses of the ACTRII gene locus in human colorectal tumors. Olaru A, et al. Lab Invest, 2003 Dec. PMID 14691305
  5. Polymorphisms in the activin A receptor type 2A gene affect the onset time and severity of preeclampsia in the Turkish population. Zeybek B, et al. J Perinat Med, 2013 Jul. PMID 23633461

See all (134) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Circular RNA ACVR2A promotes the progression of hepatocellular carcinoma through mir-511-5p targeting PI3K-Akt signaling pathway.
    Title: Circular RNA ACVR2A promotes the progression of hepatocellular carcinoma through mir-511-5p targeting PI3K-Akt signaling pathway.
  2. Activin A/ACVR2A axis inhibits epithelial-to-mesenchymal transition in colon cancer by activating SMAD2.
    Title: Activin A/ACVR2A axis inhibits epithelial-to-mesenchymal transition in colon cancer by activating SMAD2.
  3. Activin a Receptor Type 2A Mutation Affects the Tumor Biology of Microsatellite Instability-High Gastric Cancer.
    Title: Activin a Receptor Type 2A Mutation Affects the Tumor Biology of Microsatellite Instability-High Gastric Cancer.
  4. Association between ACVR2A gene polymorphisms and risk of hypertensive disorders of pregnancy in the northern Chinese population.
    Title: Association between ACVR2A gene polymorphisms and risk of hypertensive disorders of pregnancy in the northern Chinese population.
  5. Synovial chondromatosis and soft tissue chondroma: extraosseous cartilaginous tumor defined by FN1 gene rearrangement.
    Title: Synovial chondromatosis and soft tissue chondroma: extraosseous cartilaginous tumor defined by FN1 gene rearrangement.
  6. the structure of an activin class member, GDF11, in complex with the type II receptor ActRIIB and the type I receptor Alk5, is reported.
    Title: Structural characterization of an activin class ternary receptor complex reveals a third paradigm for receptor specificity.
  7. A case-control study targeting next generation sequencing of ACVR2A gene by Ion Torrent Personal Genome Sequencing suggested that some variants in the ACVR2A gene are associated with pre-eclampsia.
    Title: Targeted sequencing analysis of ACVR2A gene identifies novel risk variants associated with preeclampsia.
  8. The multifactor dimensionality reduction algorithm identified an interaction between age, body mass index and ACVR2A rs1014064, indicating that context among genetic variants and demographic/clinical factors may be crucial to understanding the pathogenesis of preeclampsia among Filipino women.
    Title: Non-additive effects of ACVR2A in preeclampsia in a Philippine population.
  9. Altered decidual ACVR2A expression impairs the ability of stromal cells to properly decidualise and regulate trophoblast function at the maternalfetal interface, which may result in abnormal placentation that can lead to poor pregnancy outcomes such as pre-eclampsia.
    Title: Decidual ACVR2A regulates extravillous trophoblast functions of adhesion, proliferation, migration and invasion in vitro.
  10. Results showed no association between genotypes and preeclampsia for polymorphisms rs5186, rs4606 in 3'UTR of genes ACVR2A, AGTR1 and RGS2 in women with preeclampsia
    Title: Association between 3'UTR polymorphisms in genes ACVR2A, AGTR1 and RGS2 and preeclampsia.
Submit: New GeneRIF Correction See all GeneRIFs (45)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
EBI GWAS Catalog
Genome-wide association of lipid-lowering response to statins in combined study populations.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables BMP receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables PDZ domain binding IEA
Inferred from Electronic Annotation
more info
  
contributes_to activin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables activin receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
contributes_to activin receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables activin receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables coreceptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables growth factor binding IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
  
enables inhibin binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
contributes_to protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein serine/threonine kinase activity EXP
Inferred from Experiment
more info
 PubMed 
enables transforming growth factor beta receptor activity IEA
Inferred from Electronic Annotation
more info
  
enables transmembrane receptor protein serine/threonine kinase activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in BMP signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within BMP signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in BMP signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in Sertoli cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in activin receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in activin receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in anterior/posterior pattern specification IEA
Inferred from Electronic Annotation
more info
  
involved_in cell surface receptor protein serine/threonine kinase signaling pathway TAS
Traceable Author Statement
more info
 PubMed 
involved_in cellular response to BMP stimulus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cellular response to growth factor stimulus IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in determination of left/right symmetry IEA
Inferred from Electronic Annotation
more info
  
involved_in embryonic skeletal system development IEA
Inferred from Electronic Annotation
more info
  
involved_in gastrulation with mouth forming second IEA
Inferred from Electronic Annotation
more info
  
involved_in mesoderm development IEA
Inferred from Electronic Annotation
more info
  
involved_in odontogenesis of dentin-containing tooth IEA
Inferred from Electronic Annotation
more info
  
involved_in pattern specification process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in penile erection IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of SMAD protein signal transduction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of activin receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of bone mineralization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of erythrocyte differentiation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of osteoblast differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within positive regulation of protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein phosphorylation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of nitric oxide biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in sperm ejaculation IEA
Inferred from Electronic Annotation
more info
  
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of activin receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cell surface IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
part_of inhibin-betaglycan-ActRII complex IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
part_of receptor complex IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
activin receptor type-2A
Names
activin A receptor, type IIA
NP_001265508.1
NP_001265509.1
NP_001607.1
XP_047302248.1
XP_054200482.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001278579.2 → NP_001265508.1  activin receptor type-2A isoform 1 precursor

    See identical proteins and their annotated locations for NP_001265508.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AK301629, AW162986, BG616903, BM503220, BU676046, DA531622, DN918410, M93415, T07746, W03601
    Consensus CDS
    CCDS33301.1
    UniProtKB/Swiss-Prot
    B2RAB8, B4DWQ2, D3DP85, P27037, Q53TH4, Q6NWV2, Q92474
    Related
    ENSP00000384338.1, ENST00000404590.1
    Conserved Domains (2) summary
    cd14141
    Location:196 → 485
    STKc_ACVR2a; Catalytic domain of the Serine/Threonine Kinase, Activin Type IIA Receptor
    pfam01064
    Location:38 → 114
    Activin_recp; Activin types I and II receptor domain

  2. NM_001278580.2 → NP_001265509.1  activin receptor type-2A isoform 2

    See identical proteins and their annotated locations for NP_001265509.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon and uses an alternate splice site in an internal exon, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK301629, AW162986, BG616903, BM503220, BU676046, DA531622, DN918410, M93415, T07746, W03601
    Consensus CDS
    CCDS63030.1
    UniProtKB/Swiss-Prot
    P27037
    Related
    ENSP00000439988.1, ENST00000535787.5
    Conserved Domains (1) summary
    cd14141
    Location:88 → 377
    STKc_ACVR2a; Catalytic domain of the Serine/Threonine Kinase, Activin Type IIA Receptor

  3. NM_001616.5 → NP_001607.1  activin receptor type-2A isoform 1 precursor

    See identical proteins and their annotated locations for NP_001607.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AW162986, BC067417, BG616903, BM503220, BU676046, DA531622, DN918410, T07746, W03601, X62381
    Consensus CDS
    CCDS33301.1
    UniProtKB/Swiss-Prot
    B2RAB8, B4DWQ2, D3DP85, P27037, Q53TH4, Q6NWV2, Q92474
    Related
    ENSP00000241416.7, ENST00000241416.12
    Conserved Domains (2) summary
    cd14141
    Location:196 → 485
    STKc_ACVR2a; Catalytic domain of the Serine/Threonine Kinase, Activin Type IIA Receptor
    pfam01064
    Location:38 → 114
    Activin_recp; Activin types I and II receptor domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    147844517..147930822
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047446292.1 → XP_047302248.1  activin receptor type-2A isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    148294972..148381274
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344507.1 → XP_054200482.1  activin receptor type-2A isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P27037.1 GenPept UniProtKB/Swiss-Prot:P27037

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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