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

Summary

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: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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

Go to the top of the page Help

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 EBI GWAS CatalogPubMed
Genome-wide association of lipid-lowering response to statins in combined study populations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

G63177 (e-PCR)
- UniSTS:140294

ksks388 (e-PCR)
- UniSTS:514439

STS-X62381 (e-PCR)
- UniSTS:67721

84 (e-PCR), detects polymorphism
- UniSTS:275849

MARC_17905-17906:1025019334:1 (e-PCR)
- UniSTS:268437

SHGC-83971 (e-PCR)
- UniSTS:183481

RH98206 (e-PCR)
- UniSTS:90327

Acvr2b (e-PCR), detects polymorphism
- UniSTS:141023

RH68541 (e-PCR)
- UniSTS:4324

Acvr2a (e-PCR), detects polymorphism
- UniSTS:496631

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
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 activin receptor activity, type I	IDA Inferred from Direct Assay more info	PubMed
enables activin receptor activity, type II	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 protein serine/threonine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables transforming growth factor beta receptor activity, type I	IEA Inferred from Electronic Annotation more info
enables transforming growth factor beta receptor activity, type II	IEA Inferred from Electronic Annotation more info
enables transforming growth factor beta receptor activity, type III	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 osteoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
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 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

Go to the top of the page Help

Preferred Names: activin receptor type-2A

Names: activin A receptor, type IIA

NP_001265508.1

EC 2.7.11.30

NP_001265509.1

EC 2.7.11.30

NP_001607.1

EC 2.7.11.30

XP_047302248.1

EC 2.7.11.30

XP_054200482.1

EC 2.7.11.30

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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)

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
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
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